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Peter Wieacker

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Katharina Schoner; Thomas Schramm; Peter Wieacker; Ralf Schmitz; Juergen Kohlhase; Annette M Müller; Juergen Neesen; Margit Plassmann; Helga Rehder
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Tamara Hansmann; Patricia Kroll; Monika Leubner; Galyna Pliushch; Sabine Preisler-Adams; Peter Wieacker; Daniela Endt; Andrea Gehrig; Thomas Haaf
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer.
S Ledig; K Rall; J Schomburg; G Barresi; Sara Brucker; Peter Wieacker
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.

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2013: Katharina Schoner; Thomas Schramm; Peter Wieacker; Ralf Schmitz; Juergen Kohlhase; Annette M Müller; Juergen Neesen; Margit Plassmann; Helga Rehder
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Prenatal diagnosis 2013;33(1):75-80.
2012: Tamara Hansmann; Patricia Kroll; Monika Leubner; Galyna Pliushch; Sabine Preisler-Adams; Peter Wieacker; Daniela Endt; Andrea Gehrig; Thomas Haaf
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer.
Human molecular genetics 2012;21(21):4669-79.
2012: S Ledig; K Rall; J Schomburg; G Barresi; Sara Brucker; Peter Wieacker
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
Human reproduction (Oxford, England) 2012;27(9):2872-5.
2012: Susanne Ledig; Olaf Hiort; Lutz Wünsch; Peter Wieacker
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.
European journal of endocrinology / European Federation of Endocrine Societies 2012;167(1):119-24.
2011: Olympia E Psathaki; Davood Sabour; Karin Hübner; Petra Pennekamp; Vittorio Sebastiano; Fumihiro Sugawa; Peter Wieacker; Guangming Wu; Hans R Schöler
Ultrastructural characterization of mouse embryonic stem cell-derived oocytes and granulosa cells.
Stem cells and development 2011;20(12):2205-15.
2011: Birgit Köhler; Rolf F Maier; M Pohl; Peter Wieacker; Heike Biebermann; V Friedsam; J Gellermann; Annette Grüters; Olaf Hiort; Heiko Krude
Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development.
The Journal of clinical endocrinology and metabolism 2011;96(7):E1131-6.
2011: Antje-Friederike Pelz; Abbas Agaimy; Marc Daniels; Matthias Evert; Hans-Ulrich Schulz; Petra Lüders; Gudrun Müller; Jerzy Lasota; Albrecht Röpke; Peter Wieacker; Markku Miettinen; Regine Schneider-Stock
Gastrointestinal stromal tumor presenting as a rectovaginal mass. Clinicopathologic and molecular-genetic characterization of a rare tumor with a literature review.
Human pathology 2011;42(4):586-93.
2011: Susanne Ledig; Cordula Schippert; Reiner Strick; Matthias W Beckmann; Patricia G Oppelt; Peter Wieacker
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
Fertility and sterility 2011;95(5):1589-94.
2011: Petra Pennekamp; O E Psathaki; H R Schöler; F J Seesing; Peter Wieacker; S Feldner; Bernd Dworniczak
Bcar3 is expressed in sertoli cells and germ cells of the developing testis in mice.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2011;5(4):197-204.
2011: Frank Tüttelmann; Manuela Simoni; Sabine Kliesch; Susanne Ledig; Bernd Dworniczak; Peter Wieacker; Albrecht Röpke
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.
PloS one 2011;6(4):e19426.
2010: Peter Wieacker; Johannes Steinhard
The prenatal diagnosis of genetic diseases.
Deutsches Ärzteblatt international 2010;107(48):857-62.
2010: S Ledig; O Hiort; G Scherer; M Hoffmann; G Wolff; S Morlot; A Kuechler; Peter Wieacker
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.
Human reproduction (Oxford, England) 2010;25(10):2637-46.
2010: S Ledig; A Röpke; Peter Wieacker
Copy number variants in premature ovarian failure and ovarian dysgenesis.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2010;4(4-5):225-32.
2010: Nadja Bogdanova; U Siebers; R Kelsch; Arseni Markoff; A Röpke; R Exeler; J Tsokas; Peter Wieacker
Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Müllerian derivatives.
Human reproduction (Oxford, England) 2010;25(5):1339-43.
2010: Roman Makarov; Bernhard Steiner; Zoran Gucev; Velibor Tasic; Peter Wieacker; Ilse Wieland
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.
BMC medical genetics 2010;11():98.
2010: S Jakubiczka; C Schröder; R Ullmann; M Volleth; S Ledig; E Gilberg; P Kroisel; Peter Wieacker
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2010;4(3):143-9.
2010: Andreas Poplinski; Peter Wieacker; Sabine Kliesch; Jörg Gromoll
Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome.
European journal of endocrinology / European Federation of Endocrine Societies 2010;162(1):169-75.
2009: Axel Bohring; Thomas Stamm; Christiane Spaich; Claudia Haase; Kerstin Spree; Ute Hehr; Mandy Hoffmann; Susanne Ledig; Saadettin Sel; Peter Wieacker; Albrecht Röpke
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
American journal of human genetics 2009;85(1):97-105.
2008: Hans Christian Hennies; Uwe Kornak; Haikuo Zhang; Johannes Egerer; Xin Zhang; Wenke Seifert; Jirko Kühnisch; Birgit Budde; Marc Nätebus; Francesco Brancati; William R Wilcox; Dietmar Müller; Paige B Kaplan; Anna Rajab; Giuseppe Zampino; Valentina Fodale; Bruno Dallapiccola; William Newman; Kay Metcalfe; Jill Clayton-Smith; May Tassabehji; Beat Steinmann; Francis A Barr; Peter Nürnberg; Peter Wieacker; Stefan Mundlos
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Nature genetics 2008;40(12):1410-2.
2008: Abbas Agaimy; Antje-Friederike Pelz; Peter Wieacker; Albert Roessner; Peter H Wünsch; Regine Schneider-Stock
Gastrointestinal stromal tumors of the vermiform appendix: clinicopathologic, immunohistochemical, and molecular study of 2 cases with literature review.
Human pathology 2008;39(8):1252-7.
2008: Ilse Wieland; A Bohring; Peter Wieacker
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.
Human genetics 2008;123(1):105.
2008: Ilse Wieland; Peter Wieacker; B Prager
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.
Human genetics 2008;123(1):105.
2008: Ilse Wieland; Roman Makarov; William Reardon; Sigrid Tinschert; Alice Goldenberg; Patrick Thierry; Peter Wieacker
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
European journal of human genetics : EJHG 2008;16(2):184-91.
2008: Solveig Schulz; Claudia Gerloff; Susanne Ledig; Dorothea Langer; Marianne Volleth; Katayoon Shirneshan; Peter Wieacker
Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.
Prenatal diagnosis 2008;28(1):42-5.
2008: Susanne Ledig; Albrecht Röpke; Gabriele Haeusler; Bernd Hinney; Peter Wieacker
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.
American journal of obstetrics and gynecology 2008;198(1):84.e1-5.
2008: Birgit Köhler; Lin Lin; Bruno Ferraz-de-Souza; Peter Wieacker; Peter Heidemann; Vanessa Schröder; Heike Biebermann; Dirk Schnabel; Annette Grüters; John C Achermann
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
Human mutation 2008;29(1):59-64.
2007: Petra Muschke; Uwe Kölsch; Sibylle Jakubiczka; Ilse Wieland; Thomas Brune; Peter Wieacker
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.
American journal of medical genetics. Part A 2007;143A(23):2810-4.
2007: Ilse Wieland; C Weidner; Roberto Ciccone; E Lapi; Donna McDonald-McGinn; Wolfram Kress; Sibylle Jakubiczka; Hartmut Collmann; Orsetta Zuffardi; Elaine Zackai; Peter Wieacker
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
Clinical genetics 2007;72(6):506-16.
2007: Peter Wieacker; Constantine Straturis; A Horvath; Silke Klose; Ingrid Nickel; P Buhtz; Petra Muschke
Male infertility as a component of Carney complex.
Andrologia 2007;39(5):196-7.
2007: Abbas Agaimy; Antje-Friederike Pelz; Christopher L Corless; Peter H Wünsch; Michael C Heinrich; Ferdinand Hofstaedter; Wolfgang Dietmaier; Charles D Blanke; Peter Wieacker; Albert Roessner; Arndt Hartmann; Regine Schneider-Stock
Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: a report of three new cases with mutational analysis and comparative genomic hybridization.
Oncology reports 2007;18(1):9-15.
2007: Sibylle Jakubiczka; Thomas Bettecken; Klaus Mohnike; Reinhard Schneppenheim; Markus Stumm; Holger Tönnies; Marianne Volleth; Peter Wieacker
Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
European journal of pediatrics 2007;166(7):743-5.
2007: Rene Cortese; Florian Eckhardt; Marianne Volleth; Manfred Wehnert; Uwe Koelsch; Peter Wieacker; Thomas Brune
The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy.
Journal of molecular endocrinology 2007;38(6):663-71.
2007: S Schulz; Stefan Vielhaber; Petra Muschke; Klaus Mohnike; R Gooding; Peter Wieacker
Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings. A Marinesco-Sjögren-like syndrome.
Neuropediatrics 2007;38(2):88-90.
2007: Antje-Friederike Pelz; Philipp Klawunde; Martin Skalej; Peter Wieacker; Elmar Kirches; Thomas Schneider; Christian Mawrin
Novel chromosomal aberrations in a recurrent malignant meningioma.
Cancer genetics and cytogenetics 2007;174(1):48-53.
2007: Peter Wieacker; Marianne Volleth
WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2007;1(2):111-3.
2007: Peter Wieacker; N Apeshiotis; Sibylle Jakubiczka; Marianne Volleth; Ilse Wieland
Familial translocation t(1;9) associated with macromastia: molecular cloning of the breakpoints.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2007;1(1):35-41.
2007: Albrecht Röpke; Thomas Kalinski; U Kluba; Uwe von Falkenhausen; Peter Wieacker; Martin Röpke
PLAG1 activation in lipoblastoma coinciding with low-level amplification of a derivative chromosome 8 with a deletion del(8)(q13q21.2).
Cytogenetic and genome research 2007;119(1-2):33-8.
2007: Albrecht Röpke; Thomas Kalinski; Klaus Mohnike; Saadettin Sel; Sibylle Jakubiczka; Antje-Friederike Pelz; Albert Roessner; Peter Wieacker
Distribution of sex chromosomes in dysgenetic gonads of mixed type.
Cytogenetic and genome research 2007;116(1-2):146-51.
2006: Mira Mosebach; Andreas Parkner; Sibylle Jakubiczka; Peter Wieacker; Marcell U Heim
Dispermic chimerism identified during blood group determination and HLA typing.
Transfusion 2006;46(11):1978-81.
2006: Ilse Wieland; Petra Muschke; Marianne Volleth; Albrecht Röpke; Antje-Friederike Pelz; Markus Stumm; Peter Wieacker
High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).
Genes, chromosomes & cancer 2006;45(10):945-9.
2006: Ralf Werner; Jenny Schütt; Sabine Hannema; Albrecht Röpke; Peter Wieacker; Olaf Hiort; Paul-Martin Holterhus
Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs.
The Journal of steroid biochemistry and molecular biology 2006;101(1):1-10.
2006: Heike Eckel; Rainer Wimmer; Marianne Volleth; Sibylle Jakubiczka; Petra Muschke; Peter Wieacker
Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.
American journal of medical genetics. Part A 2006;140(11):1219-22.
2006: Sibylle Jakubiczka; Ilse Wieland; K Wohlfahrt; N Niederstrasser; Peter Wieacker
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551.
Human genetics 2006;118(6):781.
2006: Sibylle Jakubiczka; Ilse Wieland; M Grieger; Peter Wieacker
Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease. Accession #Hm0550.
Human genetics 2006;118(6):781.
2006: Sibylle Jakubiczka; S Schulz; Peter Wieacker
Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0549.
Human genetics 2006;118(6):781.
2005: Solveig Schulz; Claudia Gerloff; Thomas Kalinski; Christian Mawrin; Dimitrios N. Kanakis; Dorothea Haas; Heidi Hahn; Peter Wieacker
Pseudotrisomy 13: clinical findings and genetic implications.
Fetal diagnosis and therapy 2005;20(6):501-3.
2005: Albrecht Röpke; Peter Buhtz; Malte Böhm; Jeannette Seger; Ilse Wieland; Ernst Peter Allhoff; Peter Wieacker
Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer.
Oncogene 2005;24(44):6667-75.
2005: Peter Wieacker; Ilse Wieland
Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.
Molecular genetics and metabolism 2005;86(1-2):110-6.
2005: Ilse Wieland; William Reardon; Sibylle Jakubiczka; Brunella Franco; Wolfram Kress; Catherine Vincent-Delorme; Patrick Thierry; Matt Edwards; Rainer König; Cristina Rusu; Susann Schweiger; Elizabeth Thompson; Sigrid Tinschert; Fiona Stewart; Peter Wieacker
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
Human mutation 2005;26(2):113-8.
2005: Thomas Kalinski; Sabine Krueger; Antje-Friederike Pelz; Peter Wieacker; Roland Hartig; Martin Röpke; Regine Schneider-Stock; Frank Dombrowski; Albert Roessner
Establishment and characterization of the permanent human cell line C3842 derived from a secondary chondrosarcoma in Ollier's disease.
Virchows Archiv : an international journal of pathology 2005;446(3):287-99.
2005: Antje-Friederike Pelz; Gerd Müller; Peter Wieacker
Jumping translocation of 1q in a BCR/ABL-positive acute lymphoblastic leukemia.
Cancer genetics and cytogenetics 2005;157(2):157-9.
2005: Ilse Wieland; Julia Sabathil; Anne Ostendorf; Olaf Rittinger; Albrecht Röpke; Birgitta Winnepenninckx; Frank Kooy; Elke Holinski-Feder; Peter Wieacker
A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.
Neurogenetics 2005;6(1):45-7.
2005: Peter Wieacker; Petra Muschke; Karl-Heinz Pollak; Roberto Müller
Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia.
American journal of medical genetics. Part A 2005;132A(3):318-9.
2005: Susanne Ledig; Sibylle Jakubiczka; Joseph Neulen; Ute Aulepp; Uta Burck-Lehmann; Klaus Mohnike; Hannelore Thiele; Hannelore Zierler; Carole Brewer; Peter Wieacker
Novel and recurrent mutations in patients with androgen insensitivity syndromes.
Hormone research 2005;63(6):263-9.
2005: Marianne Volleth; Markus Stumm; J Bürger; Petra Muschke; Peter Wieacker
Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14.
Cytogenetic and genome research 2005;108(4):283-6.
2005: Janbernd Kirschner; Thomas Brune; Manfred Wehnert; Jonas Denecke; Christina Wasner; Anja Feuer; Thorsten Marquardt; Uwe-Peter Ketelsen; Peter Wieacker; Carsten G Bönnemann; Rudolf Korinthenberg
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
Annals of neurology 2005;57(1):148-51.
2005: Antje-Friederike Pelz; Gisela Weilepp; Peter Wieacker
Re-analysis of the cell line NALM-1 karyotype by GTG-banding, spectral karyotyping, and whole chromosome painting.
Cancer genetics and cytogenetics 2005;156(1):59-61.
2004: Walter Zumkeller; Marianne Volleth; Petra Muschke; Holger Tönnies; Anita Heller; Thomas Liehr; Peter Wieacker; Markus Stumm
Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.
American journal of medical genetics. Part A 2004;129A(3):261-4.
2004: Ilse Wieland; Christian Sell; Ulrich H Weidle; Peter Wieacker
Ectopic expression of DICE1 suppresses tumor cell growth.
Oncology reports 2004;12(2):207-11.
2004: Ilse Wieland; Sibylle Jakubiczka; Petra Muschke; Monika Cohen; Hannelore Thiele; Klaus L Gerlach; Ralf H Adams; Peter Wieacker
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.
American journal of human genetics 2004;74(6):1209-15.
2004: Kathleen Jentsch-Ullrich; Antje-Friederike Pelz; Holger Braun; Michael Koenigsmann; Martin Mohren; Peter Wieacker; Astrid Franke
Complete molecular remission in a patient with Philadelphia-chromosome positive acute myeloid leukemia after conventional therapy and imatinib.
Haematologica 2004;89(5):ECR15.
2004: Ilse Wieland; Petra Muschke; Sibylle Jakubiczka; Marianne Volleth; B Freigang; Peter Wieacker
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.
Journal of medical genetics 2004;41(5):e54.
2004: Albrecht Röpke; Antje-Friederike Pelz; Marianne Volleth; Hans-Walter Schlösser; Susanne Morlot; Peter Wieacker
Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes.
American journal of obstetrics and gynecology 2004;190(4):1059-62.
2004: Albrecht Röpke; Andreas Erbersdobler; Peter Hammerer; Jüri Palisaar; Kerstin John; Markus Stumm; Peter Wieacker
Gain of androgen receptor gene copies in primary prostate cancer due to X chromosome polysomy.
The Prostate 2004;59(1):59-68.
2004: Petra Muschke; Hannswerner Gola; Raymonda Varon; Albrecht Röpke; Walter Zumkeller; Peter Wieacker; Markus Stumm
Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.
Prenatal diagnosis 2004;24(2):111-3.
2004: Sibylle Jakubiczka; Stefan Vielhaber; Wolfram Kress; Peter Küpferling; Ulrike Reuner; Bernhard Kunath; Peter Wieacker
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2.
Neurogenetics 2004;5(1):55-9.
2003: H Eckel; Jürgen Kleinstein; Peter Wieacker; Markus Stumm
Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytes.
Cytogenetic and genome research 2003;103(1-2):47-53.
2003: Ilse Wieland; Petra Muschke; Peter Wieacker
Further delineation of Wittwer syndrome and refinement of the mapping region.
American journal of medical genetics. Part A 2003;116A(1):57-60.
2002: Stefan Vielhaber; Sibylle Jakubiczka; J Michael Schröder; Michael Sailer; Helmut Feistner; Hans-Jochen Heinze; Peter Wieacker; Thomas Bettecken
Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.
Muscle & nerve 2002;25(4):540-8.
2002: Antje-Friederike Pelz; H Kröning; Astrid Franke; Peter Wieacker; Markus Stumm
High reliability and sensitivity of the BCR/ABL1 D-FISH test for the detection of BCR/ABL rearrangements.
Annals of hematology 2002;81(3):147-53.
2002: Markus Stumm; J Müsebeck; Holger Tönnies; Marianne Volleth; Johannes Lemke; Ilse Chudoba; Peter Wieacker
Partial trisomy 9p12p21.3 with a normal phenotype.
Journal of medical genetics 2002;39(2):141-4.
2002: Ilse Wieland; Sibylle Jakubiczka; Petra Muschke; A Wolf; L Gerlach; Michael Krawczak; Peter Wieacker
Mapping of a further locus for X-linked craniofrontonasal syndrome.
Cytogenetic and genome research 2002;99(1-4):285-8.
2001: J Musebeck; Klaus Mohnike; P Beye; Holger Tönnies; Heidemarie Neitzel; Dirk Schnabel; A Grüters; Peter Wieacker; Markus Stumm
Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
European journal of pediatrics 2001;160(9):561-5.
2001: Sibylle Jakubiczka; Thomas Bettecken; G Koch; B Tüysüz; Bernd Wollnik; Peter Wieacker
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.
Clinical dysmorphology 2001;10(3):197-201.
2001: Markus Stumm; A von Ruskowsky; R Siebert; S Harder; R Varon; Peter Wieacker; B Schlegelberger
No evidence for deletions of the NBS1 gene in lymphomas.
Cancer genetics and cytogenetics 2001;126(1):60-2.
2001: Ilse Wieland; Albrecht Röpke; Markus Stumm; C Sell; Ulrich H Weidle; Peter Wieacker
Molecular characterization of the DICE1 (DDX26) tumor suppressor gene in lung carcinoma cells.
Oncology research 2001;12(11-12):491-500.
2001: Kristina Langnaese; DU Kloos; Manfred Wehnert; B Seidel; Peter Wieacker
Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues.
Cytogenetics and cell genetics 2001;94(3-4):233-40.
2001: Marianne Volleth; Markus Stumm; Klaus Mohnike; Vera Kalscheuer; Sibylle Jakubiczka; Peter Wieacker
Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy.
Human heredity 2001;52(3):177-82.
2001: Markus Stumm; S Neubauer; S Keindorff; Rolf-Dieter Wegner; Peter Wieacker; R Sauer
High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome.
Cytogenetics and cell genetics 2001;92(3-4):186-91.
2000: Sibylle Jakubiczka; Beate Mitulla; Thomas Liehr; Joachim Arnemann; H Lehrach; R Sudbrak; Markus Stumm; Peter Wieacker; Thomas Bettecken
Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing.
Prenatal diagnosis 2000;20(10):842-6.
2000: Kristina Langnaese; Laurence Colleaux; DU Kloos; Michel Fontes; Peter Wieacker
Cloning of Z39Ig, a novel gene with immunoglobulin-like domains located on human chromosome X.
Biochimica et biophysica acta 2000;1492(2-3):522-5.
2000: R Brückner; Kathleen Jentsch-Ullrich; Astrid Franke; Peter Wieacker; Markus Stumm
A novel translocation (17;19)(p13;p13) in a patient with acute myelomonocytic leukemia.
Cancer genetics and cytogenetics 2000;119(1):77-9.
2000: Peter Wieacker; U Grumpelt; T Schulz; B Gharavi; Stefan Avenarius; Sibylle Jakubiczka; Markus Stumm
Female pseudohermaphroditism caused by caudal dysgenesis.
Cytogenetics and cell genetics 2000;91(1-4):296-9.
1999: Markus Stumm; A Koch; Peter Wieacker; C Phillip; F Steinbach; Ernst Peter Allhoff; Peter Buhtz; H Walter; Holger Tönnies; Jutta Wirth
Partial monosomy 2p as the single chromosomal anomaly in a case of renal metanephric adenoma.
Cancer genetics and cytogenetics 1999;115(1):82-5.
1999: A Götze; Peter Krebs; Markus Stumm; Peter Wieacker; Ernst Peter Allhoff
Trisomy 8 mosaicism in a with patient tetraamelia.
American journal of medical genetics 1999;86(5):497-8.
1999: I Knoke; Sibylle Jakubiczka; H Lehnert; Peter Wieacker
A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia.
Andrologia 1999;31(4):199-201.
1999: Markus Stumm; Holger Tönnies; U Mandon; A Götze; Peter Krebs; Peter Wieacker
Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies.
European journal of pediatrics 1999;158(7):571-5.
1999: Markus Stumm; Holger Tönnies; Peter Wieacker
Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease.
European journal of pediatrics 1999;158(7):531-6.
1999: Sibylle Jakubiczka; Thomas Bettecken; Markus Stumm; Ingrid Nickel; J Müsebeck; Peter Krebs; C Fischer; Jürgen Kleinstein; Peter Wieacker
Frequency of CFTR gene mutations in males participating in an ICSI programme.
Human reproduction (Oxford, England) 1999;14(7):1833-4.
1999: C Winter; Susanne tom Dieck; Tobias M Boeckers; Jürgen Bockmann; U Kämpf; L Sanmartí-Vila; Kristina Langnaese; Wilko D Altrock; Markus Stumm; A Soyke; Peter Wieacker; Craig C Garner; Eckart D Gundelfinger
The presynaptic cytomatrix protein Bassoon: sequence and chromosomal localization of the human BSN gene.
Genomics 1999;57(3):389-97.
1999: I Knoke; A Allera; Peter Wieacker
Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR.
Human genetics 1999;104(3):257-61.
1999: Markus Stumm; M Reuter; U Mandon; R Brückner; Peter Wieacker
[Trisomy 4p as result of a maternal translocation t(4;8)(q11;p23)].
Klinische Pädiatrie 1999;211(1):35-9.
1998: A Soyke; Markus Stumm; Peter Krebs; DU Kloos; Peter Wieacker; Klaus Mohnike; J Elsner
Familial occurrence of a del(Xp-) chromosome: pitfall in karyotype/phenotype correlation.
American journal of medical genetics 1998;80(4):436-8.
1998: E Bannier; B Degen; U Mittler; F Zintl; T Reiss; K Rieske; R Brückner; S Kropf; Peter Wieacker
[Multiplication of chromosomes and primary leucocyte number in childhood ALL and hyperdiploid karyotype].
Klinische Pädiatrie 1998;210(6):395-9.
1998: Peter Wieacker; I Knoke; Sibylle Jakubiczka
Clinical and molecular aspects of androgen receptor defects.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 1998;106(6):446-53.
1997: I Knoke; Sibylle Jakubiczka; T Ottersen; A Göppinger; Peter Wieacker
A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and Sertoli cell tumor.
Cancer genetics and cytogenetics 1997;98(2):139-41.
1997: DU Kloos; Sibylle Jakubiczka; T Wienker; G Wolff; Peter Wieacker
Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome.
Human genetics 1997;100(3-4):426-30.
1997: Peter Wieacker; Sibylle Jakubiczka
Genetic causes of male infertility.
Andrologia 1997;29(2):63-9.
1997: Sibylle Jakubiczka; S Nedel; E A Werder; E Schleiermacher; U Theile; G Wolff; Peter Wieacker
Mutations of the androgen receptor gene in patients with complete androgen insensitivity.
Human mutation 1997;9(1):57-61.
1996: Peter Wieacker; K E Mühlendahl
[Disorder of 17 beta-hydroxysteroid dehydrogenase as the cause of hypergonadotropic hypogonadism in 2 siblings with primary amenorrhea].
Geburtshilfe und Frauenheilkunde 1996;56(9):491-3.
1996: Peter Wieacker; D Missbach; Sibylle Jakubiczka; S Borgmann; N Albers
Sex reversal in a child with the karyotype 46,XY, dup (1) (p22.3p32.3).
Clinical genetics 1996;49(5):271-3.
1993: A König; Sibylle Jakubiczka; Peter Wieacker; H W Schlösser; Manfred Gessler
Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome.
Human molecular genetics 1993;2(11):1967-8.
1992: Sibylle Jakubiczka; E A Werder; Peter Wieacker
Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS).
Human genetics 1992;90(3):311-2.
1991: Peter Wieacker; D Emmerich; M Runge; M Breckwoldt
[Primary ovarian insufficiency in polyendocrinopathy syndrome].
Geburtshilfe und Frauenheilkunde 1991;51(12):1004-5.
1987: Peter Wieacker; J E Griffin; T Wienker; J M Lopez; J D Wilson; M Breckwoldt
Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment.
Human genetics 1987;76(3):248-52.
1985: Andreas Gal; C Stolzenberger; T Wienker; Peter Wieacker; Hans-Hilger Ropers; U Friedrich; L Bleeker-Wagemakers; P Pearson; M Warburg
Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome.
Clinical genetics 1985;27(3):282-3.