Publikationen


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Center for penatal diagnosis and human genetics kudamm-199

Publikationen 2011

Wegner RD, Stumm M. Zytogenetische Methoden in der Pränataldiagnostik medgen 2011 · 23:457–462 DOI 10.1007/s11825-011-0298-4, Online publiziert: 12. Dezember 2011, Springer-Verlag 2011. PDF-Download

Schaftenaar W, Fernandes T, Fritsch G, Frey R, Szentiks CA, Wegner RD, Hildebrandt TB, Hermes R.
Dystocia and fetotomy associated with cerebral aplasia in a greater one-horned rhinoceros (Rhinoceros unicornis)
Reprod Domest Anim.2011 Feb;46(1):e97-101. doi: 10.1111/j.1439-0531.2010.01610.x.

Becker R.
Identification of high-risk-patients for adverse pregnancy outcome based on multivariate logistic regression analysis at 20-23 gestational weeks
J Perinat Med 2011;39 accepted

Hagen A, Entezami M, Gasiorek-Wiens A, Albig M, Becker R, Knoll U, Stumm M, Wegner RD.
The Impact of First Trimester Screening and Early Fetal Anomaly Scan on Invasive Testing Rates in Women with Advanced Maternal Age
Ultraschall Med. 2011; 32(3):302-306

Blasi I, Fuchs I, D'Amico R, Vinci V, La Sala GB, Mazza V, Henrich W.
Intrapartum translabial three-dimensional ultrasound visualization of levator trauma
Ultrasound Obstet Gynecol. 2011 Jan;37(1):88-92. PubMed PMID: 20814872.

Publikationen 2010

Gasiorek-Wiens A, Kotsis S, Staboulidou I, Stumm M, Wegner RD, Soergel P, Schippert C, von Kaisenberg CS.
A mixture model of nuchal translucency thickness in screening for chromosomal defects: validation of a single operator dataset
Prenat Diagn. 2010 Nov;30(11):1100-6

Becker R, Vonk R .
Doppler sonography of uterine arteries at 20-23 weeks: depth of notch gives information on probability of adverse pregnancy outcome and degree of fetal growth restriction in a low-risk population
Fetal Diagn Ther 2010; 27(2): 78-86

Becker R, Horn D, Knoll U, Stumm M, Wegner RD, Peters H, Sarioglu N.
First-trimester prenatal diagnosis of Okihiro syndrome
Fetal Diagn Ther 2010; 27(4): 222-226.

Gavvovidis I, Pöhlmann C, Marchal JA, Stumm M, Yamashita D, Hirano T, Schindler D, Neitzel H, Trimborn M.
MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest
Cell Cycle. 2010 Dec 15;9(24):4893-9

Liehr T, Wegner RD, Stumm M, Martin T, Gillessen-Kaesbach G, Kosyakova N, Ewers E, Hamid AB, von Eggeling F, Hentschel J, Ziegler M, Weise A.
Small supernumerary marker chromosomes 1 with a normal phenotype
J Chin Med Assoc. 2010 Apr;73(4):205-7

Blasi I, D'Amico R, Fenu V, Volpe A, Fuchs I, Henrich W, Mazza V.
Sonographic assessment of fetal spine and head position during the first and second stages of labor for the diagnosis of persistent occiput posterior position: a pilot study
Ultrasound Obstet Gynecol. 2010 Feb;35(2):210-5. PubMed PMID: 20101635.

van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP.
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1
Am J Hum Genet. 2010 Feb 12;86(2):262-6

Publikationen 2009

Liehr T, Stumm M, Wegner RD, Bhatt S, Hickmann P, Patsalis PC, Meins M, Morlot S, Klaschka V, Ewers E, Hinreiner S, Mrasek K, Kosyakova N, Cai WW, Cheung SW, Weise A.
10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences
Cytogenet Genome Res. 2009;124(1):102-5. Epub 2009 Apr 15

M. Entezami, L. Liepe, H. Lebek, M. Albig, A. Hagen
125 single examiner cases of ARSA - additional malformations and chromosomal abnormalities
Ultrasound in Obstetrics and Gynecology 34, 2009: 117

M. Albig, A. Hagen, R. H. Becker, A. Gasiorek-Wiens, M. Entezami
Absent septum pellucidum. Associated anomalies and clinical findings in 10 cases
Ultrasound in Obstetrics and Gynecology 34, 2009: 83-84

A. Hagen, M. Albig, R. H. Becker, A. Gasiorek-Wiens, M. Entezami
Association between first trimester PAPP-A and adverse pregnancy outcome
Ultrasound in Obstetrics and Gynecology 34, 2009: 55-56

Kuemmel S, Thomas A, Landt S, Fuger A, Schmid P, Kriner M, Blohmer JU, Sehouli J, Schaller G, Lichtenegger W, Köninger A, Fuchs I.
Circulating vascular endothelial growth factors and their soluble receptors in pre-invasive, invasive and recurrent cervical cancer
Anticancer Res. 2009 Feb;29:641-5.

M. Entezami, H. Lebek, L. Liepe, A. Gasiorek-Wiens, M. Albig, A. Hagen
Congenital diaphragmatic hernia - factors influencing decision making
Ultrasound in Obstetrics and Gynecology 34, 2009: 181

Entezami, M; Hartmann, K; Albig, M; Gasiorek-Wiens, A; Becker, R; Hagen, A
Der leere oder fast leere Magen beim Fehlbildungsscreening – kein guter Marker für die Ösophagusatresie
Zeitschrift für Geburtshilfe und Neonatologie, S 01; 213, April 2009

Wegner RD, Kistner G, Becker R, Stumm M, Knoll U, Entezami M, Trimborn M.
Fetal 46,XX/69,XXY mixoploidy: origin and confirmation by analysis of fetal urine cells
Prenat Diagn. 2009; 29(3):287-9

Wegner RD, Bloechle M. Genetische Diagnostik bei ungewollter Kinderlosigkeit Gynakol Geburtsmed Gynakol Endokrinol 2009;5(3): 168–181 publiziert 30.11.09 www.akademos.de/gyn. PDF-Download

Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dörk T.
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder
Am J Hum Genet. 2009 May;84(5):605-16

A. Hagen, R. D. Wegner, A. Gasiorek-Wiens, M. Stumm, M. Entezami
The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women of advanced maternal age
Ultrasound in Obstetrics and Gynecology 34, 2009: 68

M. Entezami, B. Tillig, A. Hagen, M. Albig, T. Schaible
Intrauterine spontaneous main bronchus obstruction in congenital diaphragmatic hernia mimicking CAM?
Ultrasound in Obstetrics and Gynecology 34, 2009: 182

Entezami, M; Tillig, B; Hagen, A; Albig, M; Schaible, T:
Intrauterine Spontantherapie bei Zwerchfellhernie durch passagere Bronchusobstruktion mit Vortäuschung einer CCAM?
Zeitschrift für Geburtshilfe und Neonatologie, S 01; 213, April 2009

M. Entezami, K. Hartmann, M. Albig, A. Gasiorek-Wiens, R. H. Becker, A. Hagen
The non-visible stomach in routine malformation screening - not a good indicator of esophageal atresia
Ultrasound in Obstetrics and Gynecology 34, 2009: 227-228

Entezami, M; Lebek, H; Liepe, L; Albig, M; Gasiorek-Wiens, A; Hagen, A
Pränatale diagnostizierte Zwerchfellhernie – was entscheidet über das weitere Procedere
Zeitschrift für Geburtshilfe und Neonatologie, S 01; 213, April 2009

M. Entezami, A. Hagen, M. Albig
Uterine artery Doppler - the sampling point is critical
Ultrasound in Obstetrics and Gynecology 34, 2009: 205

Entezami, M; Hagen, A; Albig, M
Uteriner Doppler – der Messpunkt entscheidet!
Zeitschrift für Geburtshilfe und Neonatologie, S 01; 213, April 2009

Publikationen 2008

Hagen A, Albig M, Schmitz L, Hopp H, Entezami M
Intrauterine Therapie eines inkompletten AV-Blocks bei einer Mutter mit Sjögren-Syndrom
Ultraschall Med 2008;29: 268-270

Publikationen 2007

Fuchs I, Dudenhausen JW, Henrich W.
Zervixsonographie: Bedeutung in der Schwangerschaft
gynäl prax 2007, 31, 437-446

Manvelyan M, Schreyer I, Höls-Herpertz I, Köhler S, Niemann R, Hehr U, Belitz B, Bartels I, Götz J, Huhle D, Kossakiewicz M, Tittelbach H, Neubauer S, Polityko A, Mazauric ML, Wegner R, Stumm M, Küpferling P, Süss F, Kunze H, Weise A, Liehr T, Mrasek K.
Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints
Int J Mol Med. 2007 Jun;19(6):855-64

Fuchs I, Muller H, Abdul-Khaliq H, Harder T, Dudenhausen JW, Henrich W.
Immediate and long-term outcomes in children with prenatal diagnosis of selected isolated congenital heart defects
Ultrasound Obstet Gynecol. 2007;29:38-43.

Stumm M, Klopocki E, Gasiorek-Wiens A, Knoll U, Wirjadi D, Sarioglu N, Wegner RD, Tönnies H.
Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis
Prenat Diagn. 2007 May;27(5):475-8

Schaller G / Fuchs I (Equal contribution), Gonsch T, Weber T, Kleine-Tebbe A, Conrad B, Klare P, Hindenburg HJ, Ruhmland B, Lakner V, Hinke A, Bangemann N.
Phase II Study with Capecitabine and Trastuzumab in HER2-overexpressing Metastatic Breast Cancer pretreated with Anthracyclines and/or Taxanes
J Clin Oncol. 2007; 25:3246-50.

Hagen A, Albig M, Schmitz L, Hopp H, van Baalen A, Becker R, Entezami M
Prenatal Diagnosis of Isolated Foramen ovale Obstruction. A report of two cases
Fetal Diagnosis and Therapy 2005; 20: 70-73

Fuchs I., Vorsteher N., Sehouli S., Bühler H., Evers K., Schaller G., Kuemmel S.
The prognostic significance of the human epidermal growth factor receptor correlations in squamous cell carcinoma of the cervix
Anticancer Res. 2007;27:959-63.

Jakubiczka S, Bettecken T, Mohnike K, Schneppenheim R, Stumm M, Tönnies H, Volleth M, Wieacker P.
Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC
Eur J Pediatr. 2007 Jul;166(7):743-5

Publikationen 2006

M. Entezami, R. Chaoui, K. Heling, A. Hagen, M. Albig, R. D. Wegner, M. Stumm
ARSA (aberrant right subclavian artery, arteria lusoria) - an new marker for trisomy 21 in early prenatal screening
Ultrasound in Obstetrics and Gynecology, 28; 4: 514, 2006

M. Albig, A. Gasiorek-Wiens, R. Becker, A. Hagen, U. Knoll, M. Stumm, R. Wegner, M. Entezami
Cerebral ventriculomegaly: is the prevalence increased for fetuses with trisomy 21?
Ultrasound in Obstetrics and Gynecology, 28; 4: 417, 2006

Becker R, Wegner RD.
Detailed screening for fetal anomalies and cardiac defects at the 11-13-week scan
Ultrasound Obstet Gynecol. 2006; 27(6): 613-618

M. Entezami, K. Heling, R. Chaoui, A. Hagen, M. Albig, R. D. Wegner, M. Stumm
Detection of ARSA at early screening - limitations in routine workup
Ultrasound in Obstetrics and Gynecology, 28; 4: 366, 2006

M. Albig, M. Entezami, R. Becker, A. Hagen, U. Knoll, A. Gasiorek-Wiens, R. Wegner, O. Langolf, M. Stumm
Different degrees of ventriculomegaly: frequency of chromosomal anomalies, associated malformations and congenital infections
Ultrasound in Obstetrics and Gynecology, 28, 4: 436, 2006

Schmid O, Hagen A, Sarioglu N, Hopp H, Entezami M, Albig M, Becker R.
Early diagnosis of conjoined twins by real-time three-dimensional ultrasound – case report and review of the literature
Ultraschall Med 2006; 27(4):384-388.

Fuchs I, Siemer I, Buehler H, Schmider A, Henrich W, Lichtenegger W,Schaller G, Kuemmel S.
Epidermal growth factor receptor changes during breast cancer metastasis
Anticancer Res. 2006;26:4397-401.

M. Entezami, M. Albig, R. Becker, A. Gasiorek-Wiens, A. Hagen
Fetal anomaly scan: is 30 seconds enough?
Ultrasound in Obstetrics and Gynecology, 28; 4: 421, 2006

A. Hagen, L. Schmitz, M. Albig, H. Hopp, J. Lange, M. Entezami
Fetal first-degree heart block - diagnosis and therapy
Ultrasound in Obstetrics and Gynecology, 28; 4: 445, 2006

Wieland I, Muschke P, Volleth M, Röpke A, Pelz AF, Stumm M, Wieacker P.
High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11)
Genes Chromosomes Cancer. 2006 Oct;45(10):945-9

Stumm M, Wegner RD, Bloechle M, Eckel H.
Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics
Cytogenet Genome Res. 2006;114(3-4):296-301

Henrich W, Dudenhausen J, Fuchs I, Kamena A, Tutschek B.
Intrapartum translabial ultrasound (ITU): sonographic landmarks and correlation with successful vacuum extraction
Ultrasound Obstet Gynecol. 2006;28:753-60.

M. Albig, A. Hagen, R. Becker, A. Gasiorek-Wiens, U. Knoll, M. Stumm, R. Wegner, O. Langolf, M. Entezami
Isolated mild cerebral ventriculomegaly: cytogenetic findings and pregnancy outcome
Ultrasound in Obstetrics and Gynecology, 28; 4: 436-437, 2006

Trimborn M, Wegner RD, Tönnies H, Sarioglu N, Albig M, Neitzel H.
Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.
Prenat Diagn. 2006 Mar;26(3):273-6

A. Hagen, P. Schlattmann, M. Entezami
Transabdominal and transvaginal measurement of nuchal translucency - levels of agreement with and without tissue harmonic imaging
Ultrasound in Obstetrics and Gynecology, 28; 4: 513, 2006

M. Entezami, T. Krommydakis, M. Albig, R. Becker, A. Gasiorek-Wiens, A. Hagen
Uterine artery Doppler at early screening - comparison to second-trimester screening
Ultrasound in Obstetrics and Gynecology, 28; 4: 461, 2006

Publikationen 2005

Entezami, M.; Lange, J.; Chaoui, R.; Albig, M.; Wegner, R.; Stumm, M.
Congenital high airway obstruction sequence (chaos) diagnosed at 21 weeks of gestation with normal lung appearance at 12 weeks
Ultraschall in der Medizin - European Journal of Ultrasound; S 1, 2005

A. Hagen, W. Pritze, C. Loddenkemper, A.D. Abert
Die arteriovenöse Malformation (AVM) als uterine Gefäßfehlbildung
Geburtsh. u. Frauenheilk. 2005; 63: 192-194

Entezami, M.; Krommydakis, T.; Knoll, U.; Hagen, A.; Albig, M.; Gasiorek-Wiens, A.; Becker, R.; Wegner, R.; Stumm, M.
First line softmarkers in routine screening – unacceptable high incidence
Ultraschall in der Medizin - European Journal of Ultrasound; S 1, 2005

Volleth M, Stumm M, Bürger J, Muschke P, Wieacker P
Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14
Cytogenet Genome Res 2005; 108:283-286

Czernik C, Stiller B, Hubler M, Hagen A, Henrich W
Hydrops fetalis caused by a large intrapericardial teratoma
Ultrasound Obstet Gynecol 2006 Dec; 28 (7): 973-6

Hagen A, Albig M, Schmitz L, Hopp H, van Baalen A, Becker R, Entezami M.
Prenatal diagnosis of isolated foramen ovale obstruction. A report of two cases
Fetal Diagn Ther 2005; 20(1): 70-73.

Entezami, M.; Weinert, I.; Albig, M.; Gasiorek-Wiens, A.; Becker, R.; Hagen, A.; Knoll, U.; Wegner, R.; Stumm, M.
Single umbilical artery – an indicator of esophageal atresia?
Ultraschall in der Medizin - European Journal of Ultrasound; S 1, 2005

Tsoi E, Fuchs I, Rane S, Geerts L, Nicolaides KH.
Sonographic measurement of cervical length in threatened preterm labor in singleton pregnancies with intact membranes
Ultrasound Obstet Gynecol. 2005;25:353-6.

Henrich W, Tutschek B, Buhling KJ, Fuchs I, Dudenhausen JW.
Ultrasound finding and operative management of a uterine rupture during vaginal delivery after Cesarean section
Ultrasound Obstet Gynecol. 2005;25:203-5.

Publikationen 2004

Röpke A, Erbersdobler A, Hammerer P, Palisaar J, John K, Stumm M, Wieacker P.
Gain of androgen receptor gene copies in primary prostate cancer due to X chromosome polysomy
Prostate. 2004 Apr 1;59(1):59-68

Zumkeller W, Volleth M, Muschke P, Tönnies H, Heller A, Liehr T, Wieacker P, Stumm M.
Genotype/phenotype analysis in a patient with pure and complete trisomy 12p
Am J Med Genet A. 2004 Sep 1;129A(3):261-4

Steffen J, Varon R, Mosor M, Maneva G, Maurer M, Stumm M, Nowakowska D, Rubach M, Kosakowska E, Ruka W, Nowecki Z, Rutkowski P, Demkow T, Sadowska M, Bidziński M, Gawrychowski K, Sperling K.
Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland
Int J Cancer. 2004 Aug 10;111(1):67-71

Henrich W, Fuchs I, Buhrer C, van Landeghem FK, Albig M, Stoever B, Dudenhausen JW.
Isolated cardiomegaly in the second trimester as an early sign of fetal hydrops due to intracranial arteriovenous malformation
J Clin Ultrasound. 2003 Oct;31(8):445-9. Erratum in: J Clin Ultrasound. 2004 ;32:50-1.

Wegner RD, Entezami M, Knoll U, Horn D, Sohl S, Becker R.:
Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn
Am J Med Genet A. 2004 Jan 1; 124A(1):85-8

A. Hagen, O. Schmid, H. Hopp, M. Albig, C. Knoll, M. Entezami
Prenatal diagnosis of schizencephaly - a case report
Ultrasound in Obstetrics and Gynecology, 24; 3: 370, 2004

Fuchs I, Henrich W, Kalache KD, Lippek F, Dudenhausen JW.
Prenatal sonographic features of a rhabdoid tumor of the kidney
Ultrasound Obstet Gynecol. 2004;23:407-10.

Muschke P, Gola H, Varon R, Röpke A, Zumkeller W, Wieacker P, Stumm M.
Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome
Prenat Diagn. 2004 Feb;24(2):111-3

Dörk T, Bendix-Waltes R, Wegner RD, Stumm M.
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations
Am J Med Genet A. 2004 Apr 30;126A(3):272-7

Fuchs I, Henrich W, Osthues K, Dudenhausen JW.
Sonographic cervical length in singleton pregnancies with intact membranes presenting with threatened preterm labor
Ultrasound Obstet Gynecol. 2004;24:554-7.

Tsoi E, Fuchs I, Henrich W, Dudenhausen JW, Nicolaides KH.
Sonographic measurement of cervical length in preterm prelabor amniorrhexis
Ultrasound Obstet Gynecol. 2004;24:550-3.

Fuchs I, Tsoi E, Henrich W, Dudenhausen JW, Nicolaides KH.
Sonographic measurement of cervical length in twin pregnancies in threatened preterm labor
Ultrasound Obstet Gynecol. 2004;23:42-5.

Publikationen 2003

Fuchs I, Landt S, Buehler H, Kuehl U, Coupland S, Kleine-Tebbe A, Lichtenegger W, Schaller G.
Analysis of HER2 and HER4 in human myocardium to clarify the cardiotoxicity of trastuzumab (Herceptin)
Breast Cancer Res Treat. 2003;82:23-8.

Liehr T, Nietzel A, Starke H, Heller A, Weise A, Kuechler A, Senger G, Ebner S, Martin T, Stumm M, Wegner R, Tönnies H, Hoppe C, Claussen U, Von Eggeling F.
Characterization of Small Marker Chromosomes (SMC) by Recently Developed Molecular Cytogenetic Approaches
J Assoc Genet Technol. 2003;29(1):5-10

Guschmann M, Henrich W, Entezami M, Dudenhausen JW.
Chorioangioma—new insights into a well-known problem. I. Results of a clinical and morphological study of 136 cases
J Perinat Med. 2003; 31(2):163-9.

R. Becker, R. Vonk, W. Vollert, M. Albig, A. Gasiorek-Wiens, M. Entezami
Doppler sonography of uterine arteries at 20-23 weeks - experience of 10 years
Ultrasound in Obstetrics and Gynecology, 22; S1: 54, 2003

Henrich W, Schmider A, Fuchs I, Schmidt F, Dudenhausen JW.
The effects of working conditions and antenatal leave for the risk of premature birth in Berlin
Arch Gynecol Obstet. 2003;269:37-9.

Fuchs I, Henrich W, Schmider A, Lichtenegger W.
Endometriotic cyst after subtotal abdominal hysterectomy mimicking carcinoma of the cervical stump
British Journal Obstet. Gynecol. 2003;110:637-8.

Sarioglu N, Wegner RD, Gasiorek-Wiens A, Entezami M, Schmock J, Hagen A, Becker R.
Epignathus: always a simple teratoma? Report of an exceptional case with two additional fetiforme bodies
Ultrasound Obstet Gynecol. 2003; 21(4): 397-403.

Zoll B, Petersen L, Lange K, Gabriel P, Kiese-Himmel C, Rausch P, Buerger J, Pasche B, Meins M, Gross M, Berger R, Kruse E, Kunz J, Sperling K, Laccone F
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10
Hum Mutat 2003; 21:98

M. Entezami, S. Yildirim, S. Hese, M. Stumm, R. D. Wegner
False negative result in chorionic villi short term culture missing a translocation trisomy 21
Ultrasound in Obstetrics and Gynecology, 22; S1: 135, 2003

M. Entezami, L. Schmitz, M. Albig, A. Gasiorek-Wiens, R. D. Wegner, R. Becker
Fetal Echocardiography between 11 + 0 and 13 + 6 weeks as standard procedure in early fetal screening
Ultrasound in Obstetrics and Gynecology, 22; S1: 57, 2003

Bürger J and Regenauer A
Genetic engineering and the insurance industry - Life insurance and private health insurance
FAIR review 2003; 129:33-51

A. Hagen, O. Schmid, H. Hopp, M. Entezami
Management of fetal tachycardia
Ultrasound in Obstetrics and Gynecology, 22; S1: 160, 2003

Eckel H, Kleinstein J, Wieacker P, Stumm M.
Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytes
Cytogenet Genome Res. 2003;103(1-2):47-53

Dai Y, Kysela B, Hanakahi LA, Manolis K, Riballo E, Stumm M, Harville TO, West SC, Oettinger MA, Jeggo PA.
Nonhomologous end joining and V(D)J recombination require an additional factor
Proc Natl Acad Sci U S A. 2003 Mar 4;100(5):2462-7

Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome
Nat Genet 2003; 35:185-189

Fuchs I, Henrich W, Brauer M, Stover B, Guschmann M, Degenhardt P, Dudenhausen JW.
Prenatal diagnosis of congenital mesoblastic nephroma in 2 siblings
J Ultrasound Med. 2003;22:823-7; quiz 828-9.

Horsthemke B, Lich C, Buiting K, Achmann R, Aulehla-Scholz C, Baumer A, Burger J, Dworniczak B, Glaser D, Holinski-Feder E, Janssen B, Kleinle S, Kochhan L, Krasemann E, Kraus C, Kroisel P, Plendl H, Purmann S, Sander G, Skladny H, Spitzer E, Thamm-Mucke B, Varon-Mateeva R, Weinhausel A, Weirich H
Problems in detecting mosaic DNA methylation in Angelman syndrome
Eur J Hum Genet 2003; 11:913-915

Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification
Hum Genet. 2003 Dec;114(1):51-67

M. Entezami, L. Schmitz, R. Chaoui, A. Hagen, M. Albig, R. Becker
The U-sign- a marker of cardiac outflow tract abnormalities. Presentation of three cases and their clinical implications
Ultrasound in Obstetrics and Gynecology, 22; S1: 150-151, 2003

Publikationen 2002

Henrich W, Fuchs I, Ehrenstein T, Kjos S, Schmider A, Dudenhausen JW.
Antenatal diagnosis of placenta percreta with planned in situ retention and methotrexate therapy in a woman infected with HIV
Ultrasound Obstet Gynecol. 2002;20:90-3.

Digweed M, Rothe S, Demuth I, Scholz R, Schindler D, Stumm M, Grompe M, Jordan A, Sperling K.
Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia
Carcinogenesis. 2002 Jul;23(7):1121-6

Becker R, Kunze J, Horn D, Gasiorek-Wiens A, Entezami M, Rossi R, Guschmann M, Sarioglu N.
Autosomal recessive type of Adams-Oliver syndrome: prenatal diagnosis
Ultrasound Obstet Gynecol. 2002; 20(5): 506-510.

Weise A, Starke H, Heller A, Tönnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T.
Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes
J Med Genet. 2002 Jun;39(6):434-9

Becker R, Vonk R, Vollert W, Entezami M.
Doppler sonography of uterine arteries at 20-23 weeks: risk assessment of adverse pregnancy outcome by quantification of impedance and notch
J Perinat Med. 2002; 30(5): 388-394

Brockmann K, Böhm R, Bürger J
Exceptional mild Angelman syndrome phenotype associated with an incomplete imprinting defect
J Med Genet 2002; 39:e51

Bürger J, Horn D, Tönnies H, Neitzel H, Reis A
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome
Am J Med Genet 2002; 111:233-237

Antoccia A, di Masi A, Maraschio P, Stumm M, Ricordy R, Tanzarella C.
G2-phase radiation response in lymphoblastoid cell lines from Nijmegen breakage syndrome
Cell Prolif. 2002 Apr;35(2):93-104

Fuchs I, Loebbecke M, Buhler H, Stoltenburg-Didinger G, Heine B,Lichtenegger W, Schaller G.
HER2 in brain metastases: issues of concordance, survival, and treatment
J Clin Oncol. 2002;20:4130-3.

Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Ventura M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O.
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
Am J Hum Genet. 2002 Aug;71(2):276-85

Pelz AF, Kröning H, Franke A, Wieacker P, Stumm M.
High reliability and sensitivity of the BCR/ABL1 D-FISH test for the detection of BCR/ABL rearrangements
Ann Hematol. 2002 Mar;81(3):147-53

Starke H, Seidel J, Henn W, Reichardt S, Volleth M, Stumm M, Behrend C, Sandig KR, Kelbova C, Senger G, Albrecht B, Hansmann I, Heller A, Claussen U, Liehr T.
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements
Eur J Hum Genet. 2002 Dec;10(12):790-800

Cox GF*, Bürger J*, Lip V, Mau UA, Sperling K, Wu BL, Horsthemke B
* gemeinsame Erstautoren
Intracytoplasmic sperm injection may increase the risk of imprinting defects
Am J Hum Genet 2002; 71:162-164

Fuchs I, Lichtenegger W, Buehler H, Henrich W, Stein H, Kleine-Tebbe A, Schaller G.
The prognostic significance of epithelial-mesenchymal transition in breast cancer.
Anticancer Res. 2002;22:3415-9.

Stumm M, Müsebeck J, Tönnies H, Volleth M, Lemke J, Chudoba I, Wieacker P.
Partial trisomy 9p12p21.3 with a normal phenotype
J Med Genet. 2002 Feb;39(2):141-4

Henrich W, Fuchs I, Luttkus A, Hauptmann S, Dudenhausen JW.
Pseudoaneurysm of the uterine artery after cesarean delivery: sonographic diagnosis and treatment
J Ultrasound Med. 2002;21:1431-4.

Neubauer S, Arutyunyan R, Stumm M, Dörk T, Bendix R, Bremer M, Varon R, Sauer R, Gebhart E.
Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting
Radiat Res. 2002 Mar;157(3):312-21

Urban M, Bommer C, Tennstedt C, Lehmann K, Thiel G, Wegner RD, Bollmann R, Becker R, Schulzke I, Koerner H.
Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis
Am J Med Genet 2002; 108(2): 97-104.

Schneider-Stock R, Boltze C, Jaeger V, Stumm M, Seiler C, Rys J, Schütze K, Roessner A.
Significance of loss of heterozygosity of the RB1 gene during tumour progression in well-differentiated liposarcomas
J Pathol. 2002 Aug;197(5):654-60

Henrich W, Fuchs I, Schmider A, Buhling KJ, Dudenhausen JW.
Transvaginal and transabdominal extended field-of-view (EFOV) and power Doppler EFOV sonography in gynecology: advantages and applications
J Ultrasound Med. 2002;21:1137-44.

Becker R.
Preimplantation versus prenatal diagnosis - practice of prenatal diagnosis
Z Ärztl Fortbild Qualitätssich. 2002; 96: 409-412.

Publikationen 2001

Vanita, Sarhadi V, Reis A, Jung M, Singh D, Sperling K, Singh J R, Bürger J
A unique form of autosomal dominant cataract explained by gene conversion between β-crystallin B2 and its pseudogene.
J Med Genet 2001; 38:392-396

Chrzanowska KH, Stumm M, Bekiesiska-Figatowska M, Varon R, Biaecka M, Gregorek H, Michakiewicz J, Krajewska-Walasek M, Jówiak S, Reis A.
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain.
J Med Genet. 2001 Jan;38(1):E3

Tönnies H, Stumm M, Wegner RD, Chudoba I, Kalscheuer V, Neitzel H.
Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics.
Cytogenet Cell Genet. 2001;93(3-4):188-94

Runte M, Färber C, Lich C, Zeschnigk M, Buchholz T, Smith A, Van Maldergem L, Bürger J, Muscatelli F, Gillessen-Kaesbach G, Horsthemke B, Buiting K
Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.
Eur J Hum Genet 2001; 9:519-526

Fuchs I, Bühler H, Lichtenegger W, Schaller G.
Die Bedeutung von Intermediärfilamentveränderungen für die Metastasierung und die Prognose des Mammakarzinoms.
Geburtshilfe Frauenheilkunde 2001;61:112-116.

O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P.
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
Mol Cell. 2001 Dec;8(6):1175-85

A. Hagen, A. Ebert, J. Lange, M. Zemlin, H. Hopp
Einfluß eines schwangerschaftsverlängernden Managements auf die mütterliche und neonatale Morbidität beim HELLP-Syndrom
Zentralbl Gynekol 123 (2001) 513-519

Guschmann M, Becker R, Urban M, Entezami M, Hese S, Vogel M
Femur-fibula-ulna (FFU) complex in the 33rd week of gestation: ultrasonography, radiology, pathology and differential diagnosis. Case report.
Klin Paediatr 2001; 213(5): 301-305

Nothwang HG, Kim HG, Aoki J, Geisterfer M, Kübart S, Wegner RD, van Moers A, Ash-worth LK, Haaf T, Bell J, Arai H, Tommerup N, Ropers HH, Wirth J.
Functional hemizygosi-ty of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retarda-tion, ataxia and atrophy of the brain.
Hum Mol Genet. 2001 Apr 1;10(8):797-806

Stumm M, Neubauer S, Keindorff S, Wegner RD, Wieacker P, Sauer R.
High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome.
Cytogenet Cell Genet. 2001;92(3-4):186-91

Lemke J, Chudoba I, Senger G, Stumm M, Loncarevic IF, Henry C, Zabel B, Claussen U.
Improved definition of chromosomal breakpoints using high-resolution multicolour banding.
Hum Genet. 2001 Jun;108(6):478-83

Horsthemke B, Bartsch O, Bürger J, Buiting K, Gillessen-Kaesbach G, Janssen B
Leitlinien für die molekulare und cytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom.
Med Genet 2001; 13:71-73

Guschmann M, Horn D, Entezami M, Urban M, Hähnel S, Kunze J, Vogel: M.
Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings.
Prenat Diagn. 2001 May;21(5):378-82.

Becker R, Stiemer B, Neumann L, Entezami M.
Mild ventriculomegaly, mild cerebellar hypoplasia and dysplasstic choroids plexus as early prenatal signs of CHARGE association.
Fetal Diagn Ther. 2001;16(5):280-283

Wieland I, Röpke A, Stumm M, Sell C, Weidle UH, Wieacker PF.
Molecular characterization of the DICE1 (DDX26) tumor suppressor gene in lung carcinoma cells.
Oncol Res. 2001;12(11-12):491-500

Dörk T, Schlösser M, Bürger J, Hoffknecht N, Kälin N, Krawczak M, Macek M Jr, Reis A, Will K, Wulbrand U, Wulf B, Reiss J, Tümmler B, Schmidtke J, Stuhrmann M
Mutationsanalyse bei deutschen CF-Patienten.
Med Genetik 2001; 3:24

Stumm M, von Ruskowsky A, Siebert R, Harder S, Varon R, Wieacker P, Schlegelberger B.
No evidence for deletions of the NBS1 gene in lymphomas.
Cancer Genet Cytogenet. 2001 Apr 1;126(1):60-2

Geipel A, Krapp M, Germer U, Becker R, Gembruch U.
Perinatal diagnosis of cardiac tumors.
Ultrasound Obstet Gynecol. 2001;17(1):17-21

Volleth M, Stumm M, Mohnike K, Kalscheuer VM, Jakubiczka S, Wieacker P.
Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy.
Hum Hered. 2001;52(3):177-82

Becker R, Schmitz L, Guschmann M, Wegner RD, Stiemer B, Entezami M.
Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature.
Ultrasound Obstet Gynecol. 2001;17(3):263-267

Becker RH, Vonk R, Mende BC, Ragosch V, Entezami M.
The relevance of placental location at 20-23 gestational weeks for prediction of placenta prevail at delivery: evaluation of 8650 cases.
Ultrasound Obstet Gynecol. 2001;17(6):496-501

Musebeck J, Mohnike K, Beye P, Tönnies H, Neitzel H, Schnabel D, Grüters A, Wieacker PF, Stumm M.
Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
Eur J Pediatr. 2001 Sep;160(9):561-5

Tönnies H, Stumm M, Neumann L, Volleth M, Grumpelt U, Müsebeck J, Annuss G, Neitzel H.
Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH.
J Med Genet. 2001 Jun;38(6):E21

Publikationen 2000

Cai L, Struk B, Adams MD, Ji W, Haaf T, Kang HL, Dho SH, Xu X, Ringpfeil F, Nancarrow J, Zäch S, Schaen L, Stumm M, Niu T, Chung J, Lunze K, Verrecchia B, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Lebwohl M, Uitto J, Richards R, Hohl D, Ramesar R.
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.
J Mol Med. 2000;78(1):36-46

Brückner R, Jentsch-Ullrich K, Franke A, Wieacker P, Stumm M.
A novel translocation (17;19)(p13;p13) in a patient with acute myelomonocytic leukemia.
Cancer Genet Cytogenet. 2000 May;119(1):77-9

Becker R, Wegner RD, Kunze J, Runkel S, Vogel M, Entezami M.
Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.
Clin Genet. 2000; 57(2): 148-150

Wieacker P, Grumpelt U, Schulz T, Gharavi B, Avenarius S, Jakubiczka S, Stumm M.
Female pseudohermaphroditism caused by caudal dysgenesis.
Cytogenet Cell Genet. 2000;91(1-4):296-9

Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A
Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
Eur J Hum Genet 2000; 8:771-776

Jakubiczka S, Mitulla B, Liehr T, Arnemann J, Lehrach H, Sudbrak R, Stumm M, Wieacker PF, Bettecken T.
Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing.
Prenat Diagn. 2000 Oct;20(10):842-6

Stanulla M, Stümm M, Dieckvoss BO, Seidemann K, Schemmel V, Müller Brechlin A, Schrappe M, Welte K, Reiter A.
No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence.
Br J Haematol. 2000 Apr;109(1):117-20

Becker R, Runkel S, Entezami M.
Prenatal diagnosis of body stalk anomaly at 9 weeks of gestation. Case report.
Fetal Diagn Ther 2000; 15(5):301-303.

Girard PM, Foray N, Stumm M, Waugh A, Riballo E, Maser RS, Phillips WP, Petrini J, Arlett CF, Jeggo PA.
Radiosensitivity in Nijmegen Breakage Syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects.
Cancer Res. 2000 Sep 1;60(17):4881-8

Becker R, Mende B, Stiemer B, Entezami M.
Sonographic markers of exencephaly at 9 + 3 weeks of gestation.
Ultrasound Obstet Gynecol. 2000; 16(6): 582-584

Publikationen 1999 - 1990

A. Hagen, O. Schmid, R. Runkel, H. Weitzel, H. Hopp
A randomized trial oft two surgical techniques for cesarean section
European Journal of Obstetrics & Gynecology and Reproductive Biology 86 (1999) 81

Ebert AD, Hopp HS, Entezami M, Runkel S, Weitzel HK.
Acute onset of blindness during labor: report of a case of transient cortical blindness in association with HELLP syndrome.
Eur J Obstet Gynecol Reprod Biol. 1999 May; 84(1):111-3.

Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, We-ber BH, Schindler D.
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Hum Mol Genet. 1999 Jan;8(1):69-79

Yamazaki V, Wegner RD, Kirchgessner CU.
Characterization of cell cycle checkpoint re-sponses after ionizing radiation in Nijmegen breakage syndrome cells.
Cancer Res. 1998 Jun 1;58(11):2316-22

Schaller G, Fuchs I, Ebert A, Gstettenbauer M, Herbst H, Lengyel E.
The clinical importance of keratin 18 in breast cancer
Zentralbl Gynakol. 1999;121:126-30.

König B, Steinbach F, Janocha B, Drynda A, Stumm M, Philipp C, Allhoff EP, König W.
The differential expression of proinflammatory cytokines IL-6, IL-8 and TNF-alpha in renal cell carcinoma.
Anticancer Res. 1999 Mar-Apr;19(2C):1519-24

Waisfisz Q, Saar K, Morgan NV, Altay C, Leegwater PA, de Winter JP, Komatsu K, Evans GR, Wegner RD, Reis A, Joenje H, Arwert F, Mathew CG, Pronk JC, Digweed M.
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.
Am J Hum Genet. 1999 May;64(5):1400-5

Bartsch O, Wagner A, Hinkel GK, Krebs P, Stumm M, Schmalenberger B, Böhm S, Balci S, Majewski F.
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.
Eur J Hum Genet. 1999 Oct-Nov;7(7):748-56

Jakubiczka S, Bettecken T, Stumm M, Nickel I, Müsebeck J, Krebs P, Fischer C, Kleinstein J, Wieacker P.
Frequency of CFTR gene mutations in males participating in an ICSI programme.
Hum Reprod. 1999 Jul;14(7):1833-4

Entezami M, Hardt W, Ebert A, Runkel S, Becker R.
Hepatocellular carcinoma as a rare cause of excessive rise in alpha-fetoprotein in pregnancy.
Zentralbl Gynaekol. 1999; 121(10): 503-505

Antoccia A, Stumm M, Saar K, Ricordy R, Maraschio P, Tanzarella C.
Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines.
Int J Radiat Biol. 1999 May;75(5):583-91

Stumm M, Tönnies H, Wieacker PF.
Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease.
Eur J Pediatr. 1999 Jul;158(7):531-6

Stumm M, Tönnies H, Mandon U, Götze A, Krebs P, Wieacker PF.
Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies.
Eur J Pediatr. 1999 Jul;158(7):571-5

Entezami M, Vonk R, Becker R.
Nuchal cord.
Ultrasound Obstet Gynecol. 1999; 14(5):362-363

Stumm M, Koch A, Wieacker PF, Phillip C, Steinbach F, Allhoff EP, Buhtz P, Walter H, Tönnies H, Wirth J.
Partial monosomy 2p as the single chromosomal anomaly in a case of renal metanephric adenoma.
Cancer Genet Cytogenet. 1999 Nov;115(1):82-5

Winter C, tom Dieck S, Boeckers TM, Bockmann J, Kämpf U, Sanmartí-Vila L, Langnaese K, Altrock W, Stumm M, Soyke A, Wieacker P, Garner CC, Gundelfinger ED.
The presynaptic cytomatrix protein Bassoon: sequence and chromosomal localization of the human BSN gene.
Genomics. 1999 May 1;57(3):389-97

Stumm M, Reuter M, Mandon U, Brückner R, Wieacker P.
Trisomy 4p as result of a maternal translocation t(4;8)(q11;p23)
Klin Padiatr. 1999 Jan-Feb;211(1):35-9. Review. German

Götze A, Krebs P, Stumm M, Wieacker P, Allhoff EP.
Trisomy 8 mosaicism in a with patient tetraamelia.
Am J Med Genet. 1999 Oct 29;86(5):497-8

tom Dieck S, Sanmartí-Vila L, Langnaese K, Richter K, Kindler S, Soyke A, Wex H, Smalla KH, Kämpf U, Fränzer JT, Stumm M, Garner CC, Gundelfinger ED.
Bassoon, a novel zinc-finger CAG/glutamine-repeat protein selectively localized at the active zone of presynaptic nerve terminals.
J Cell Biol. 1998 Jul 27;142(2):499-509

A. Hagen, WJM. Hrushesky, U. Torsten, H. Weitzel
Der Operationszeitpunkt beim prämenopausalen Mammakarzinom – Einfluß auf die Prognose?
Geburtsh. u. Frauenheilk. 58 (1998) 282-289

von Moers A, van Landeghem FKH, Cohn R, Baumgarten E, Bürger J, Stoltenburg-Didinger G
Dystrophinopathy in Chediak-Higashi syndrome.
Neuromusc disord 1998; 8:489-494

Soyke A, Stumm M, Krebs P, Kloos DU, Wieacker P, Mohnike K, Elsner J.
Familial occurrence of a del(Xp-) chromosome: pitfall in karyotype/phenotype correlation.
Am J Med Genet. 1998 Dec 4;80(4):436-8

A. Hagen, C. Becker, S. Runkel, H. Weitzel
Hyperemesis in late pregnancy – should we think of cancer?
European Journal of Obstetrics & Gynecology and Reproductive Biology 80 (1998) 273-274

Saar K, Schindler D, Wegner RD, Reis A, Wienker TF, Hoehn H, Joenje H, Sperling K, Digweed M.
Localisation of a Fanconi anaemia gene to chromosome 9p.
Eur J Hum Genet. 1998 Sep-Oct;6(5):501-8

A. Hagen, WJM Hrushesky
Menstrual Timing of Breast Cancer Surgery – A Review
American Journal of Surgery 1998; 104: 245-261

Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A.
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Cell. 1998 May 1;93(3):467-76

Entezami M, Runkel S, Kunze J, Weitzel HK, Becker R.
Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report.
Fetal Diagn Ther 1998; 13(1): 35-38

Buiting K, Dittrich B, Gross S, Lich C, Farber C, Buchholz T, Smith E, Reis A, Burger J, Nothen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Horsthemke B, et al
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
Am J Hum Genet 1998; 63:170-80

Ragosch V, Entezami M, Hundertmark S, Mutz A, Becker R, Weitzel H.
Accuracy of ultrasound weight assessment – comparison of vertex vs. breech presentation.
Ultraschall Med. 1997; 18(1): 19-25.

Entezami M, Coumbos A, Runkel S, Vogel M, Wegner RD
Combined partial trisomy 3p/monosomy 5p resulting in sonografic abnormalities
Clin. Genet. 52: 96-99, 1997

Sperling K, Neitzel H, Wegner RD
Der Einsatz der Zytogenetik in der Pränataldiagnostik unter qualitätssicherndem Aspekt.
In D. Arndt, G. Obe (Hrsg.) Robert-Koch-Institut Schriften 1/97, MMV Medizin Verlag München 1997

Bürger J, Buiting K, Dittrich B, Groß S, Lich C, Sperling K, Horsthemke B, Reis A
Different mechanisms and recurrence risks of imprinting mutations in Angelman syndrome.
Am J Hum Genet 1997; 61:88-95

Entezami M, Runkel S, Becker R, Weitzel HK, Arabin B.
Feto-feto-fetal triplet transfusion syndrome (FFFTTS).
J Matern Fetal Med 1997; 6(6): 334-337.

Saar K, Chrzanowska KH, Stumm M, Jung M, Nürnberg G, Wienker TF, Seemanová E, Wegner RD, Reis A, Sperling K.
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.
Am J Hum Genet. 1997 Mar;60(3):605-10

Guschmann M, Entezami M, Becker R, Vogel M.
Intrauterine rhabdomyoma of the heart. A case report.
Gen Diagn Pathol. 1997; 143(4): 255-259.

Bruening J, Becker R, Entezami M, Loy V, Vonk R, Weitzel H, Tolxdorff T.
Knowledge-based system ADNEXPERT to assist the sonographic diagnosis of adnexal tumors.
Methods Inf Med 1997; 36(3): 201-206.

Chrzanowska K, Stumm M, Bialecka M, Saar K, Bernatowska-Matuszkiewicz E, Michalkiewicz J, Barszcz S, Reis A, Wegner RD.
Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.
Clin Genet. 1997 May;51(5):309-13

Karim MA, Nagle DL, Kandil HH, Bürger J, Moore KJ, Spritz.RA
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.
Hum Mol Genet 1997; 6:1087-1089

Stumm M, Sperling K, Wegner RD.
Noncomplementation of radiation-induced chromosome aberrations in ataxia-telangiectasia/ataxia-telangiectasia-variant heterodikaryons.
Am J Hum Genet. 1997 May;60(5):1246-51

Wegner RD, Becker R.
Prenatal diagnosis in Germany.
Eur J Hum Genet. 1997;5 Suppl 1:32-8

Mertsalov IB, Stumm M, Wieacker P, tom Dieck S, Gundelfinger E, Tsetlin VI.
Structure and chromosomal localization of human neurogranin gene
Bioorg Khim. 1997 Dec;23(12):961-8. Russian

Holz K, Becker R, Schuermann R.
Ultrasound in the investigation of tubal patency. A meta-analysis of three comparative studies of Echovist-200 including 1007 women.
Zentralbl Gynaekol 1997; 119(8): 366-373

Bürger J, Metzke H, Paternotte C, Schilling F, Hazan J, Reis A
Autosomal dominant spastic paraplegia with anticipation maps to a 4 cM interval on chromosome 2p21-p24 in a large German family.
Hum Genet 1996; 98:371-375

Wegner RD
Cytogenetic reliability of CVS: the BMFT-study in comparison to other multi-center studies
In: Stengel-Rutkowski (Ed), Early Prenatal Diagnosis, Kovac-Verlag, Hamburg, (1996)

Schaller G, Fuchs I, Pritze W, Ebert A, Herbst H, Pantel K, Weitzel H, Lengyel E.
Elevated keratin 18 protein expression indicates a favorable prognosis in patients with breast cancer.
Clin Cancer Res. 1996;2:1879-85.

Wegner RD, Henrichs I, Joenje H, Schroeder-Kurth T.
Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient.
Clin Genet. 1996 Dec;50(6):479-82

Wegner RD
Genetische Untersuchungen von malignen hämatologischen Erkrankungen
MTA 6: 446 - 452 (1996)

Entezami M, Becker R, Ebert A, Pritze W, Weitzel H.
Hepatocellular carcinoma as a rare cause of an excessive increase in alpha-fetoprotein during pregnancy.
Gynecol Oncol. 1996; 62(3): 405-407

Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito H, Bürger J, Spritz RA
Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige (bg) locus.
Am J Hum Genet 1996; 59:620-624

Linss G, Gebel E, Reis A, Wegner RD, Prütz D
Localisation of the gene for the naevoid ba-sal cell carcinoma syndrome (Gorlin-Goltz syndrome) and other cytological investigations in one family
Eur. J. Dermatol. 6: 262-263 (1996)

Wegner RD, Schröck E, Obladen M, Becker R, Stumm M, Sperling K
Partial trisomy/monosomy 6q in fetal cells and CVS long-term culture not present in CVS short-term culture.
Prenat Diagn 1996; 16(8): 741-748

Bürger J, Kunze J, Sperling K, Reis A
Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.
Am J Med Genet 1996; 66:221-226

Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers NG, Gatti RA, Lenoir G, Lavin MF, Tatsumi K, Wegner RD, Shiloh Y, Bar-Shira A.
Predominance of null mutations in ataxia-telangiectasia.
Hum Mol Genet. 1996 Apr;5(4):433-9

D. Grulich, A. Hagen, G. Morack
Prognostic factors and treatment results of endometrial cancer
Zentralbl Gynäkol 118 (1996) 154-163

Jaluvka V, Entezami M, Becker R, Weitzel HK.
Acute torsion of hydrosalpinx. 2 cases after laparoscopic sterilization.
Ultraschall in Med 1995;16(1):33-35.

Sperling K, Wegner RD
Ätiologie und Pathogenese chromosomal bedingter embryo-fetaler Fehlbildungen und Spontanaborte In: Schneider und Weitzel (Eds), Pränatale Diagnostik und Therapie
Wissenschaftliche Verlagsgesellschaft, Stuttgart (1995).

Stumm M, Gatti RA, Reis A, Udar N, Chrzanowska K, Seemanova E, Sperling K, Wegner RD.
The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.
Am J Hum Genet. 1995 Oct;57(4):960-2

Joenje H, Lo ten Foe JR, Oostra AB, van Berkel CG, Rooimans MA, Schroeder-Kurth T, Wegner RD, Gille JJ, Buchwald M, Arwert F.
Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.
Blood. 1995 Sep 15;86(6):2156-60

Schuffenhauer S, Bartsch O, Stumm M, Buchholz T, Petropoulou T, Kraft S, Belohradsky B, Hinkel GK, Meitinger T, Wegner RD.
DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor.
Hum Genet. 1995 Nov;96(5):562-71

Entezami M, Becker R, Vollert W, Arabin B, Weitzel HK.
Fetal macrosomy and hydramnios. Intrauterine symptoms of a combination of Sturge-Weber-Krabbe- and Klippel-Trenaunay syndrome.
Ultraschall in Med 1995; 16(1): 41-43.

Becker R, Narssia T, Hoffbauer H.
Ultraschalldiagnostik in der Schwangerenberatung: Möglichkeiten – Anspruch –Wirklichkeit.
Perinatalmedizin 1995; 7: 79-82

A. Hagen, G. Morack, D. Grulich
Wertung von epidemiologischen Risikofaktoren für das Endometriumkarzinom auf der Basis einer Fall-Kontroll-Studie
Zentralbl Gynäkol 117 (1995) 368-374

Sperling K, Pelz J, Wegner RD, Dörries A, Grüters A, Mikkelsen M
Bewertung eines Trisomie 21 Clusters im Januar 1987 in Berlin, neun Monate nach dem Reaktorunfall von Tschernobyl
Medizinische Genetik 4: 378-385 (1994)

Sperling K, Digweed M, Wegner RD
Complementation studies in human DNA repair de-fects In: Human Genetics: Health and disease perspectives
J.R. Singh (Ed.), Ess Ess Publ., New Delhi , pp 53-67 (1994)

Wegner RD, Reis A, Digweed M
Cytogenetic and molecular investigations in chromosomal instability syndromes In: Chromosomal alterations; G. Obe, A.T. Natarajan (Eds.)
Springer Verlag Berlin, Heidelberg, New York, Tokio, pp 267-279 (1994)

Wegner HH, Ferszt A, Wegner RD, Dieckmann KP
Die gemischte Gonadendysgenesie - eine seltene Ursache der primären Infertilität Urologie
33: 342-346 (1994)

Sperling K, Pelz J, Wegner RD, Dörries A, Grüters A, Mikkelsen M.
Fallout from Chernobyl. Authors stand by study that Chernobyl increased trisomy 21 in Berlin.
BMJ. 1994 Nov 12;309(6964):1299

Gatti RA, Lange E, Rotman G, Chen X, Uhrhammer N, Liang T, Chiplunkar S, Yang L, Udar N, Dandekar S, Sheikhavandi S, Wang Z, Yang HM, Polikow J, Elashoff M, Teletar M, Sanal O, Chessa L, McConville C, Taylor M, Shiloh Y, Porras O, Borresen AL, Wegner RD, Curry C, Gerken S, Lange K, Concannon P.
Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an approximately 850 kb region on chromosome 11q23.1.
Int J Radiat Biol. 1994 Dec;66(6 Suppl):S57-62

Wegner RD
Genetische Aspekte der Chorionzottendiagnostik
Geburtsh. u. Frauenheilk. 54: LII (1994)

Becker R, Entezami M, Vollert W, Hese S, Weitzel HK.
Gynäkologische Sonographie I: Vorschläge zu standardisierter Befunderhebung, -beschreibung und -darstellung.
Ultraschall Klin Prax 1994; 8: 235-240

Becker R Entezami M, Hese S, Vollert W, Loy V, Weitzel HK.
Gynäkologische Sonographie II: Normalwerte der standardisierten Uterusbiometrie.
Ultraschall Klin Prax 1994; 8: 241-247

Becker R, Entezami M, Vollert W, Hese S, Weitzel HK.
Gynäkologische Sonographie III: Normalwerte der standardisierten Ovarialbiometrie.
Ultraschall Klin Prax 1994; 8: 32-42

Becker R, Arabin B, Entezami M, Vollert W, Loy V, Weitzel HK.
Keimzelltumoren: Epidemiologie und Sonomorphologie.
Gynäkol Prax 1994; 18: 93-108

Overberg-Schmidt U, Wegner RD, Baumgarten E, Günther A, Ebell W, Stein H, Vogel M, Henze G.
Low-grade non-Hodgkin's lymphoma after high-grade non-Hodgkin's lymphoma in a child with ataxia telangiectasia.
Cancer. 1994 Mar 1;73(5):1522-5

Wegner HE, Ferszt A, Wegner RD, Dieckmann KP
Mixed gonadal dysgenesis—a rare cause of primary infertility. Report of 2 cases and review of the literature
Urologe A. 1994 Jul;33(4):342-6

Arabin B, Becker R, Mohnhaupt A, Vollert W, Weitzel HK.
Prediction of fetal distress and poor outcome in prolonged pregnancy using Doppler ultrasound and fetal heart rate moitoring combined with stress tests (II).
Fetal Diagn Ther 1994;9(1):1-6

Sperling K, Pelz J, Wegner RD, Dörries A, Grüters A, Mikkelsen M.
Significant increase in trisomy 21 in Berlin nine months after the Chernobyl reactor accident: temporal correlation or causal relation?
BMJ. 1994 Jul 16;309(6948):158-62

Becker R, Hoffbauer H, Entezami M, Waldschmid J, Weitzel HK.
Thoracic manifestation of Klippel-Trenaunay syndrome. Case report and brief review of the literature.
Ultraschall Med. 1994;15(1):45-48

Zouboulis CC, Stratakis CA, Rinck G, Wegner RD, Gollnick H, Orfanos CE.
Ulerythema ophryogenes and keratosis pilaris in a child with monosomy 18p.
Pediatr Dermatol. 1994 Jun;11(2):172-5

Becker R, Novak A, Rudolph KH. J
A case of occipital encephalocele combined with right lung aplasia in twin pregnancy - prenatal diagnosis, perinatal management, clinical outcome and review of the literature.
Perinat Med 1993; 21: 253-258

Maerzke S, Neumann L, Hofstaetter C, Plieth M, Reis A, Wegner RD
A novel partial monosomy 8q ascertained by sonografic abnormalities (Abstract)
Medizinische Genetik 5: 121 (1993)

Wegner RD
Chorionic villi analysis in: Advances in mutagenesis research 4; G. Obe (Ed)
Springer Verlag Berlin, Heidelberg, New York, Tokio, pp 204-235 (1993)

Wegner RD, Lindenau S, Eiberger M
Chorionic villi mosaicism: extreme local differences in the distribution of the cell lines involved (Abstract)
Medizinische Genetik 5: 128 (1993)

Tommerup N, Mortensen E, Nielsen MH, Wegner RD, Schindler D, Mikkelsen M.
Chromo-somal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosy-nostosis and microcephaly.
Hum Genet. 1993 Oct;92(4):339-46

The Cystic Fibrosis Genotype-Phenotype Consortium
Correlation between genotype and phenotype in patients with cystic fibrosis.
N Engl J Med 1993; 329:1308

Becker R, Arabin B, Entezami M, Novak A, Weitzel HK.
Fetal hydrothorax - successful treatment by long-time drainage from week 23.
Fetal Diagn Ther 1993; 8: 331-337

Stiemer B, Becker R, Waldschmidt J.
Intrauterine Mekoniumperitonitis. Eine seltene Ursache des nicht immunologischen Hydrops fetalis: Fallbericht.
Ultraschall in Med 1993; 14: 44-47

Wegner HE, Klän R, Wegner RD, Knispel HH, Ferszt A, Dieckmann KP.
Mixed gonadal dysgenesis associated with unilateral cavernosal fibrosis and presenting as a cystic lower abdominal mass.
Eur Urol. 1993;24(3):428-30

Baumgarten E, Wegner RD, Fengler R, Koch H, Henze G.
Partial trisomy 1q, an uncom-mon chromosomal aberration in erythroleukemia.
Leuk Lymphoma. 1993 Jun;10(3):237-40

Arabin B, Becker R, Mohnhaupt A, Entezami M, Weitzel HK.
Prediction of fetal distress and poor outcome in intrauterine growth retardation--a comparison of fetal heart rate monitoring combined with stress tests and Doppler ultrasound.
Fetal Diagn Ther 1993;8(4):234-40

Becker R, Stiemer B, Patt S, Vogel M, Sperner J.
Prenatal diagnosis of fetal polymicrogyria - case report.
Ultraschall Med. 1993;14(1):32-34

Bommer C, Körner H, Wegner RD
Trisomy 18 and 21, each in cells of the mesenchymal chore not detected in the cytotrophoblast (Abstract)
Medizinische Genetik 5: 125 (1993)

Arabin B, Mohnhaupt A, Becker R, Weitzel HK.
Comparison of the prognostic value of pulsed Doppler blood flow parameters to predict SGA and fetal distress.
Ultrasound Obstet Gynecol 1992; 2: 272-278

Hamosh A, King TM, Rosenstein BJ, Corey M, Levison H, Durie P, Tsui LC, McIntosh I, Keston M, Brock DJ, Bürger J, et al.
Cystic fibrosis patients bearing both the common missense mutation Gly-Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.
Am J Hum Genet 1992; 51:245

Becker R, Brinnel C, Arabin B.
Der Kopfindex - ein vernachlässigter Parameter der fetalen Standardbiometrie.
Ultraschall in Med 1992; 13: 2-6

Wegner RD
Derzeitige und zukünftige Indikationen für die prä- und postnatale zytogeneti-sche Diagnostik Fortschritt und Fortbildung in der Medizin
16: 193-198, 1992

Lindenau S, Haferburg J, Wegner RD
Enzymatic digestion of chorionic villi for direct chro-mosome preparation and lang term culture in Early Fetal diagnosis: recent progress and public health impact; M. Macek, M. A. Ferguson-Smith, M. Spala (Eds.)
Karolinum - Charles University Press, Prague (1992)

Bommer Ch, Körner H, Wegner RD
False negative findings in short term cultures of chori-onic villi (Abstract)
Pren. Diagn. 12 (Suppl.): 53, 1992

Schmidt K, Sperling K, Wegner RD, Horsthemke B, Kunze J
Genetic aspects of Angelman syndrome: evidence for genomic imprinting (Abstract)
Am. J. Med. Genet. 42: 257-258, 1992

Osborne L, Santis G, Schwarz M, Klinger K, Dörk T, McIntosh I, Schwartz M, Nunes V, Bürger J, et al.
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.
Hum Genet 1992; 89:653

Wegner RD, Lindenau S, Eiberger M, Becker R, Sperling K
Local and intravillous differences in the chromosomal constitution of chorionic villi in a case of trisomy 18 (Abstract)
Pren. Diagn. 12 (Suppl.): 174, 1992

Reis A, Küster W, Linss G, Gebel E, Hamm H, Fuhrmann W, Wolff G, Groth W, Gustafson G, Kuklik M, Bürger J, Wegner RD, Neitzel H
Localisation of gene for the naevoid basal-cell carcinoma syndrome.
Lancet 1992; 339:617

Macek M Jr, Ladanyi L, Bürger J, Reis A
Missense Variations in the Cystic Fibrosis Gene: Heteroduplex Formation in the F508C Mutation.
Am J Hum Genet 1992; 51:1173

Sperling K, Pelz J, Wegner RD, Schulzke I, Struck E, Macek jr M, Neizel H:
Monitoring of chromosomal anomalies in Berlin (West) between 1980 and 1988 in Early fe-tal diagnosis: recent progress and public health inpact; M. Macek, M. A. Ferguson-Smith, M. Spala (Eds.)
Karolinum - Charles University Press, Prague (1992)

Wegner RD, Scherer G, Pohlschmidt M, L'Allemand D, Gal A.
Ring Y chromosome: cyto-genetic and molecular characterization.
Clin Genet. 1992 Aug;42(2):71-5

Kombaecher P, Hamm B, Becker R, Hese S, Weitzel HK, Wolf KJ.
Tumoren der Adnexe - Vergleich von Magnetresonanztomographie, Endosonographie und histologischen Befunden.
Fortschr Roentgenstr 1992; 156: 303-308

Becker R, Jaluvka V.
Vaginalsonographische Darstellung einer sigmoidouterinen Fistel.
Ultraschall Klin Prax 1992; 7: 78-79

Rodloff AC, Becker R, Harnoss BM, Goertz G, Hopf
Anaerobic bacteria - exotic microorganisms?
U. Eur. J. Hosp. Pharm. 1991; 1: 21-26

Becker R, Mende B, Rodloff AC, Wegner RD, Karkut G, Weitzel HK
Bakteriologische Befunde vor und bei transzervikaler Chorionzottenbiopsie und deren klinische Relevanz.
Geburtsh Frauenheilk 1991; 51: 704-709

Bürger J, Macek M Jr, Stuhrmann M, Reis A, Krawczak M, Schmidtke J
Genetic influences in the formation of nasal polyps.
Lancet 1991; 337:974

Fobbe F, Becker R, Koch HC, Hammerstein J, Wolf KJ.
Nachweis der Durchgängigkeit der Tubae uterinae mit der farbkodierten Duplexsonographie in Kombination mit Ultraschallkontrastmittel.
Fortschr Röntgenstr 1991; 154: 349-353

Jaluvka V, Becker R.
Präoperativ als Adnextumor diagnostizierte Mukozele der Appendix.
Zentralbl Gynäkol 1991; 113: 879-882

Publikationen vor 1990

Becker R., Weitzel H K.
Derzeitiger Stand der gynäkologischen Endosonographie.
Klinikarzt 1989; 18(4): 180-195

Karkut G, Becker R, Starzinski K, Schulzke I, Wegner RD, Weitzel HK.
Erfahrungen mit der transzervikalen Chorionzottenbiopsie bei 274 Untersuchungen.
Geburtsh u Frauenheilk 1989; 49: 701-704

Rodloff AC, Becker R, Hahn H.
In vitro-Wirksamkeit von Ciprofloxacin bei Chlamydien.
Fortschr. Antimikrob. Antineoplast. Chemother 1989; 8: 27-31

Barzen G, Mayr AC, Langer M, Becker R, Cordes M, Zwicker C, Koppenhagen K, Felix R.
Radioimmunoscintigraphy of ovarian cancer with 131-iodine labeled OC-125 antibody fragments.
Eur J Nucl Med 1989; 15: 42-48

Ponnath H, Becker R, Rodloff A.C., Weitzel HK, Hahn H.
Perioperative Anwendung von Mezlocillin bei abdominaler Schnittentbindung.
Fortschr. Antimikrob. Antineoplast. Chemother 1986; 5-3: 579-584

Nigam S, Becker R, Rosendahl U, Hammerstein J, Benedetto C, Barbero M, Slater TF
The concentrations of 6-Keto-PGF1-alpha and TXB2 in plasma samples from patients with benign and malignant tumours of the breast.
Prostaglandins 1985; 29 (4): 513-528

Becker R, Karkut G. Z.
Der Stellenwert der kontinuierlichen Atemüberwachung bei der Früherkennung potentiell lebensbedrohlicher Erkrankungen des Neugeborenen.
Geburtsh Perinat 1985; 189: 136-139

Becker R, Moltz L.
Vor- und Nachteile der transurethralen und suprapubischen Harnableitung nach gynäkologischen Operationen.
Geburtsh Frauenheilk 1984; 44: 587-590

Nigam S., Becker R., Hammerstein J, Benedetto C, Slater TF
The possible role of prostaglandins and thromboxanes in tumor growth and metastasis; follow-up of impaired prostacyclin-thromboxane-balance in plasma of breast cancer patients.
Acta Endocrinol 1983; 103: 104