Publications by authors named "Peter Wieacker"

73Publications

The relevance of ANXA5 genetic variants on male fertility.

J Assist Reprod Genet 2019 Jul 13;36(7):1355-1359. Epub 2019 Jun 13.

Centre of Reproductive Medicine and Andrology, University of Münster, Münster, Germany.

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http://dx.doi.org/10.1007/s10815-019-01458-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642233PMC
July 2019

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.

Mol Genet Genomic Med 2018 11 11;6(6):1225-1228. Epub 2018 Aug 11.

Institute of Human Genetics, University of Münster, Münster, Germany.

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http://doi.wiley.com/10.1002/mgg3.426
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http://dx.doi.org/10.1002/mgg3.426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305658PMC
November 2018

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.

Trends Endocrinol Metab 2018 06 26;29(6):400-419. Epub 2018 Apr 26.

Medical Faculty, Univ. Paris Sud and Paris Saclay, Bicetre Hospital 94275, Le Kremlin Bicêtre, France. Electronic address:

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http://dx.doi.org/10.1016/j.tem.2018.03.010DOI Listing
June 2018

Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.

Med Genet 2018 21;30(1):3-11. Epub 2018 Feb 21.

Institute of Human Genetics, Westfälische Wilhelms-Universität, Vesaliusweg 12-14, 48149 Münster, Germany.

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http://dx.doi.org/10.1007/s11825-018-0173-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838123PMC
February 2018

Maternal carriers of the ANXA5 M2 haplotype are exposed to a greater risk for placenta-mediated pregnancy complications.

J Assist Reprod Genet 2018 May 1;35(5):921-928. Epub 2018 Mar 1.

Hemostasis and Thrombosis Laboratory, Hospital of Infectious Diseases "Dr Francisco J. Muñiz", Uspallata 2272, C1282AEN, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s10815-018-1142-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984886PMC
May 2018

Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.

Sex Dev 2017 1;11(5-6):248-253. Epub 2017 Dec 1.

Gerhard Domagk Institute of Pathology, University Hospital Münster, Münster, Germany.

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http://dx.doi.org/10.1159/000484915DOI Listing
October 2018

Assessment of M2/ANXA5 haplotype as a risk factor in couples with placenta-mediated pregnancy complications.

J Assist Reprod Genet 2018 Jan 13;35(1):157-163. Epub 2017 Sep 13.

Insititute of Human Genetics, UKM and WWU Muenster, Vesaliusweg 12-14, 48149, Muenster, Germany.

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http://dx.doi.org/10.1007/s10815-017-1041-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758464PMC
January 2018

Elevated annexin A5 plasma levels in term pregnancies of M2/ANXA5 carriers.

Thromb Res 2017 08 7;156:87-90. Epub 2017 Jun 7.

Institute of Human Genetics, University Clinic Muenster, Muenster, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2017.06.008DOI Listing
August 2017

Intrafamilial phenotypic variability of Specific Language Impairment.

Brain Lang 2016 Aug 4;159:102-8. Epub 2016 Jul 4.

Department of Phoniatrics and Pedaudiology, University Hospital of Muenster, Kardinal-von-Galen Ring 10, 48149 Muenster, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bandl.2016.06.005DOI Listing
August 2016

Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.

Fertil Steril 2015 May 23;103(5):1313-8. Epub 2015 Mar 23.

Institute of Human Genetics, WWU Münster, Münster, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2015.02.014DOI Listing
May 2015

Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3).

Sex Dev 2015 11;9(2):86-90. Epub 2015 Feb 11.

Institute of Human Genetics, University Hospital Münster, Münster, Germany.

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http://dx.doi.org/10.1159/000373906DOI Listing
February 2016

DMRT1 mutations are rarely associated with male infertility.

Fertil Steril 2014 Sep 14;102(3):816-820.e3. Epub 2014 Jun 14.

Institute of Human Genetics, University of Münster, Münster, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2014.05.022DOI Listing
September 2014

Novel associations in disorders of sex development: findings from the I-DSD Registry.

J Clin Endocrinol Metab 2014 Feb 3;99(2):E348-55. Epub 2013 Dec 3.

University of Glasgow (K.C., J.B., J.J., M.R., R.S., S.F.A.), Child Health, School of Medicine, Royal Hospital for Sick Children, Yorkhill, and National eScience Centre, Glasgow G3 8SJ, United Kingdom; University of Melbourne (R.S.), eResearch, Melbourne, Parkville VIC 3010, Australia; Al-Amiri Hospital (M.A.), Paediatric Department, MOH, Safat 13015, Kuwait; University of Birmingham (W.A., N.K.), Centre for Endocrinology, Diabetes and Metabolism, School of Clinical & Experimental Medicine, Birmingham B15 2TT, United Kingdom; Vall d'Hebron Research Institute (L.A.) and CIBERER, Barcelona, 08035 Spain; University of Bologna (A.B.), Department of Gynecologic, Obstetric and Pediatric Sciences, Operative Unit Pediatrics, 40138, Bologna, Italy; University Hospital Pisa (S.B.), Servizio di Medicina dell'Adolescenza - UO Pediatria, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy; University Hospital Ghent & University of Ghent (M.C.), Department of Pediatric and Adolescent Endocrinology and Diabetology, 185-9000 Gent, Belgium; Istanbul University (F.D.), Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, 34452 İstanbul, Turkey; Sophia Children's Hospital/Erasmus MC (S.D.), Division of Pediatric Endocrinology, Department of Pediatrics, Rotterdam, The Netherlands; Al-Neelain Medical Research Centre (M.E.), Faculty of Medicine and Health Sciences, Al-Neelain University and Biotechnology Lab, Ahfad University for Women, 00249 Khartoum, Sudan; Marmara University Hospital (T.G.), Istanbul, Pediatric Endocrinology and Diabetes, Fevzi Cakmak Mh. 34899 Ustkaynarca/Pendik-Istanbul-Turkey; University of Lübeck (O.H.), Division of Experimental Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, 23560 Lübeck, Germany; University Hospital of Schleswig Holstein (P.-M. H.), Department of General Pediatrics, University of Kiel, 24105 Kiel, Germany; University of Cambridge (I.H.), Department of Paediatri

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http://dx.doi.org/10.1210/jc.2013-2918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955252PMC
February 2014

Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report.

J Assist Reprod Genet 2013 Dec 24;30(12):1553-8. Epub 2013 Oct 24.

Institute of Human Genetics, University of Münster, Vesaliusweg 12-14, 48149, Münster, Germany.

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http://dx.doi.org/10.1007/s10815-013-0122-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843169PMC
December 2013

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.

Eur J Endocrinol 2012 Jul 9;167(1):119-24. Epub 2012 May 9.

Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Vesaliusweg 12-14, D-48149 Münster, Germany.

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http://dx.doi.org/10.1530/EJE-12-0136DOI Listing
July 2012

Ultrastructural characterization of mouse embryonic stem cell-derived oocytes and granulosa cells.

Stem Cells Dev 2011 Dec 8;20(12):2205-15. Epub 2011 Mar 8.

Department of Cell and Developmental Biology, Max Planck Institute for Molecular Biomedicine, Münster, Germany.

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http://dx.doi.org/10.1089/scd.2010.0575DOI Listing
December 2011

The prenatal diagnosis of genetic diseases.

Dtsch Arztebl Int 2010 Dec 3;107(48):857-62. Epub 2010 Dec 3.

Institut für Humangenetik, Universitätsklinikum Münster, Germany.

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http://dx.doi.org/10.3238/arztebl.2010.0857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004373PMC
December 2010

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.

Fertil Steril 2011 Apr 24;95(5):1589-94. Epub 2010 Aug 24.

Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany.

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http://dx.doi.org/10.1016/j.fertnstert.2010.07.1062DOI Listing
April 2011

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.

BMC Med Genet 2010 Jun 17;11:98. Epub 2010 Jun 17.

Institut für Humangenetik, Universitätsklinikum, Otto-von-Guericke-Universität, Magdeburg, Germany.

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http://dx.doi.org/10.1186/1471-2350-11-98DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901216PMC
June 2010

Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.

Sex Dev 2010 4;4(3):143-9. Epub 2010 May 4.

Institute of Human Genetics, University Hospital, Magdeburg, Germany.

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http://dx.doi.org/10.1159/000302403DOI Listing
September 2010

Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome.

Eur J Endocrinol 2010 Jan 7;162(1):169-75. Epub 2009 Oct 7.

Centre of Reproductive Medicine and Andrology, University Clinics Münster, Münster, Germany.

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http://www.eje-online.org/content/early/2009/10/07/EJE-09-07
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http://www.eje-online.org/cgi/doi/10.1530/EJE-09-0768
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http://dx.doi.org/10.1530/EJE-09-0768DOI Listing
January 2010

Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.

Prenat Diagn 2008 Jan;28(1):42-5

Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Germany.

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http://dx.doi.org/10.1002/pd.1904DOI Listing
January 2008

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

Eur J Hum Genet 2008 Feb 28;16(2):184-91. Epub 2007 Nov 28.

Institut für Humangenetik, Otto-von-Guericke-Universität, Magdeburg, Germany.

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http://www.nature.com/articles/5201968
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http://dx.doi.org/10.1038/sj.ejhg.5201968DOI Listing
February 2008

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.

Am J Med Genet A 2007 Dec;143A(23):2810-4

Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.32046
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http://dx.doi.org/10.1002/ajmg.a.32046DOI Listing
December 2007

BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.

Am J Obstet Gynecol 2008 Jan 12;198(1):84.e1-5. Epub 2007 Sep 12.

Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1016/j.ajog.2007.05.029DOI Listing
January 2008

Novel chromosomal aberrations in a recurrent malignant meningioma.

Cancer Genet Cytogenet 2007 Apr;174(1):48-53

Department of Human Genetics, Otto-von-Guericke University, Leipziger Strasse 44, D-39120 Magdeburg, Germany.

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http://dx.doi.org/10.1016/j.cancergencyto.2006.10.008DOI Listing
April 2007

Dispermic chimerism identified during blood group determination and HLA typing.

Transfusion 2006 Nov;46(11):1978-81

Institute of Transfusion Medicine and Immunohematology and the Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1111/j.1537-2995.2006.01005.xDOI Listing
November 2006

Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs.

J Steroid Biochem Mol Biol 2006 Sep 22;101(1):1-10. Epub 2006 Aug 22.

Department of Pediatric and Adolescent Medicine, University of Lübeck, Germany.

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http://dx.doi.org/10.1016/j.jsbmb.2006.06.016DOI Listing
September 2006

High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).

Genes Chromosomes Cancer 2006 Oct;45(10):945-9

Institut für Humangenetik, Otto-von-Guericke-Universität, Magdeburg, Germany.

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http://dx.doi.org/10.1002/gcc.20358DOI Listing
October 2006

Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.

Am J Med Genet A 2006 Jun;140(11):1219-22

Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31237DOI Listing
June 2006

Pseudotrisomy 13: clinical findings and genetic implications.

Fetal Diagn Ther 2005 Nov-Dec;20(6):501-3

Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany.

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http://dx.doi.org/10.1159/000088038DOI Listing
January 2006

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.

Mol Genet Metab 2005 Sep-Oct;86(1-2):110-6

Institut für Humangenetik, Otto-von-Guericke-Universität, Leipziger Str. 44, D-39120 Magdeburg, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2005.07.017DOI Listing
January 2006

Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer.

Oncogene 2005 Oct;24(44):6667-75

Institute of Human Genetics, Otto-von-Guericke-University Magdeburg, Germany.

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http://dx.doi.org/10.1038/sj.onc.1208824DOI Listing
October 2005

Novel and recurrent mutations in patients with androgen insensitivity syndromes.

Horm Res 2005 26;63(6):263-9. Epub 2005 May 26.

Institut für Humangenetik der Otto-von-Guericke-Universität Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1159/000086018DOI Listing
October 2005

Establishment and characterization of the permanent human cell line C3842 derived from a secondary chondrosarcoma in Ollier's disease.

Virchows Arch 2005 Mar 25;446(3):287-99. Epub 2005 Feb 25.

Department of Pathology, Otto-von-Guericke-University, Leipziger Strasse 44, 39120 Magdeburg, Germany.

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http://dx.doi.org/10.1007/s00428-004-1194-yDOI Listing
March 2005

Jumping translocation of 1q in a BCR/ABL-positive acute lymphoblastic leukemia.

Cancer Genet Cytogenet 2005 Mar;157(2):157-9

Institute of Human Genetics, Otto-von-Guericke University of Magdeburg, Leipziger Strasse 44, H.26, D-39120 Magdeburg, Germany.

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http://dx.doi.org/10.1016/j.cancergencyto.2004.08.006DOI Listing
March 2005

Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia.

Am J Med Genet A 2005 Jan;132A(3):318-9

Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.30392DOI Listing
January 2005

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

Ann Neurol 2005 Jan;57(1):148-51

Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1002/ana.20359DOI Listing
January 2005

Re-analysis of the cell line NALM-1 karyotype by GTG-banding, spectral karyotyping, and whole chromosome painting.

Cancer Genet Cytogenet 2005 Jan;156(1):59-61

Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Leipziger Strasse 44, H.26 D-39120 Magdeburg, Germany.

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http://dx.doi.org/10.1016/j.cancergencyto.2004.04.021DOI Listing
January 2005

Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.

Am J Med Genet A 2004 Sep;129A(3):261-4

Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.30125
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http://dx.doi.org/10.1002/ajmg.a.30125DOI Listing
September 2004

Complete molecular remission in a patient with Philadelphia-chromosome positive acute myeloid leukemia after conventional therapy and imatinib.

Haematologica 2004 May 1;89(5):ECR15. Epub 2004 May 1.

University Hospital Magdeburg, Division of Hematology/Oncology, Leipziger Str.44, 39120 Magdeburg, Germany.

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May 2004

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Am J Hum Genet 2004 Jun 29;74(6):1209-15. Epub 2004 Apr 29.

Institut fur Humangenetik, Otto-von-Guericke-Universitat Magdeburg, 39120 Magdeburg, Germany.

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http://dx.doi.org/10.1086/421532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182084PMC
June 2004

Gain of androgen receptor gene copies in primary prostate cancer due to X chromosome polysomy.

Prostate 2004 Apr;59(1):59-68

Institute of Human Genetics, Otto-von-Guericke-University Magdeburg, Germany.

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http://dx.doi.org/10.1002/pros.10356DOI Listing
April 2004

Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.

Prenat Diagn 2004 Feb;24(2):111-3

Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany.

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http://dx.doi.org/10.1002/pd.803DOI Listing
February 2004

Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2.

Neurogenetics 2004 Feb 10;5(1):55-9. Epub 2003 Dec 10.

Institut für Humangenetik, Otto von Guericke University, Leipziger Strasse 44, 39120 Magdeburg, Germany.

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http://dx.doi.org/10.1007/s10048-003-0168-6DOI Listing
February 2004

Further delineation of Wittwer syndrome and refinement of the mapping region.

Am J Med Genet A 2003 Jan;116A(1):57-60

Institut für Humangenetik, Otto-von-Guericke-Universität, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.10874DOI Listing
January 2003

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.

Muscle Nerve 2002 Apr;25(4):540-8

Department of Neurology, Otto-von-Guericke University Magdeburg, Medical Center, Leipziger Strasse 44, D-39120 Magdeburg, Germany.

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http://dx.doi.org/10.1002/mus.10070DOI Listing
April 2002