P Wieacker

Summary

Affiliation: Otto-von-Guericke University
Country: Germany

Publications

  1. ncbi request reprint Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox
    Peter Wieacker
    Institut fur Humangenetik, Otto von Guericke Universitat, Leipziger Str 44, D 39120 Magdeburg, Germany
    Mol Genet Metab 86:110-6. 2005
  2. doi request reprint Familial translocation t(1;9) associated with macromastia: molecular cloning of the breakpoints
    P Wieacker
    Institut fur Humangenetik, Otto von Guericke Universitat, Magdeburg, Germany
    Sex Dev 1:35-41. 2007
  3. doi request reprint WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p
    P Wieacker
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Sex Dev 1:111-3. 2007
  4. ncbi request reprint Female pseudohermaphroditism caused by caudal dysgenesis
    P Wieacker
    Institut fur Humangenetik, Otto von Guericke Universitat Magdeburg, Magdeburg, Germany
    Cytogenet Cell Genet 91:296-9. 2000
  5. ncbi request reprint Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia
    Peter Wieacker
    Institute of Human Genetics, Otto von Guericke University Magdeburg, Germany
    Am J Med Genet A 132:318-9. 2005
  6. ncbi request reprint Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy
    M Volleth
    Institute of Human Genetics, Otto von Guericke University of Magdeburg, Leipziger Strasse 44, D-39120 Magdeburg, Germany
    Hum Hered 52:177-82. 2001
  7. doi request reprint Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome
    S Ledig
    Institute of Human Genetics, Westfalische Wilhelms University, Vesaliusweg 12 14, Munster 48149, Germany
    Hum Reprod 27:2872-5. 2012
  8. ncbi request reprint Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome
    Ilse Wieland
    Otto von Guericke Universitat, Institut fur Humangenetik, Leipziger Str, 44, 39120 Magdeburg, Germany
    Hum Genet 123:105. 2008
  9. pmc The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function
    Roman Makarov
    Institut fur Humangenetik, Universitatsklinikum, Otto von Guericke Universitat, Magdeburg, Germany
    BMC Med Genet 11:98. 2010
  10. ncbi request reprint High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome
    M Stumm
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Cytogenet Cell Genet 92:186-91. 2001

Detail Information

Publications61

  1. ncbi request reprint Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox
    Peter Wieacker
    Institut fur Humangenetik, Otto von Guericke Universitat, Leipziger Str 44, D 39120 Magdeburg, Germany
    Mol Genet Metab 86:110-6. 2005
    ..The more severe manifestation in females may be explained by cellular interference that is caused by the combination of ephrin ligand/receptor promiscuity and the consequences of random X inactivation in distinct cellular compartments...
  2. doi request reprint Familial translocation t(1;9) associated with macromastia: molecular cloning of the breakpoints
    P Wieacker
    Institut fur Humangenetik, Otto von Guericke Universitat, Magdeburg, Germany
    Sex Dev 1:35-41. 2007
    ..Therefore, a position effect compromising the regulation of a still to be identified gene in the vicinity of the breakpoints can be assumed...
  3. doi request reprint WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p
    P Wieacker
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Sex Dev 1:111-3. 2007
    ..Therefore, it can be assumed that in male-to-female sex reversal associated with duplication of 1p, other genetic factors may be involved...
  4. ncbi request reprint Female pseudohermaphroditism caused by caudal dysgenesis
    P Wieacker
    Institut fur Humangenetik, Otto von Guericke Universitat Magdeburg, Magdeburg, Germany
    Cytogenet Cell Genet 91:296-9. 2000
    ..We suggest that this form of female pseudohermaphroditism is an extreme manifestation of the caudal type of VATER association...
  5. ncbi request reprint Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia
    Peter Wieacker
    Institute of Human Genetics, Otto von Guericke University Magdeburg, Germany
    Am J Med Genet A 132:318-9. 2005
  6. ncbi request reprint Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy
    M Volleth
    Institute of Human Genetics, Otto von Guericke University of Magdeburg, Leipziger Strasse 44, D-39120 Magdeburg, Germany
    Hum Hered 52:177-82. 2001
    ..Possible mechanisms explaining this unexpected finding are discussed...
  7. doi request reprint Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome
    S Ledig
    Institute of Human Genetics, Westfalische Wilhelms University, Vesaliusweg 12 14, Munster 48149, Germany
    Hum Reprod 27:2872-5. 2012
    ..The LHX1 gene, which is located in the deletion interval, has been suggested to be a strong candidate, because targeting inactivation of Lhx1 causes a complex phenotype including aplasia of the Müllerian ducts...
  8. ncbi request reprint Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome
    Ilse Wieland
    Otto von Guericke Universitat, Institut fur Humangenetik, Leipziger Str, 44, 39120 Magdeburg, Germany
    Hum Genet 123:105. 2008
  9. pmc The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function
    Roman Makarov
    Institut fur Humangenetik, Universitatsklinikum, Otto von Guericke Universitat, Magdeburg, Germany
    BMC Med Genet 11:98. 2010
    ..406 + 2T > C and two missense mutations p.P54L and p.T111I. Both missense mutations are located in the extracellular ephrin domain involved in Eph-ephrin-B1 recognition and higher order complex formation...
  10. ncbi request reprint High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome
    M Stumm
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Cytogenet Cell Genet 92:186-91. 2001
    ..These increased levels of nonspecific translocations could be an important risk factor for the development of malignancies in homozygotes and heterozygotes for ATM or NBS1 gene mutations...
  11. ncbi request reprint Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome
    Ilse Wieland
    Otto von Guericke Universitat, Institut fur Humangenetik, Leipziger Str, 44, 39120 Magdeburg, Germany
    Hum Genet 123:105. 2008
  12. ncbi request reprint Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551
    S Jakubiczka
    Department of Human Genetics, Otto von Guericke University, Leipziger Strasse 44, 39120 Magdeburg, Germany
    Hum Genet 118:781. 2006
  13. ncbi request reprint Mapping of a further locus for X-linked craniofrontonasal syndrome
    I Wieland
    Institut fur Humangenetik, Otto von Guericke Universitat, Magdeburg, Germany
    Cytogenet Genome Res 99:285-8. 2002
    ..The most plausible interpretation for this unusual pattern of X-linked inheritance is metabolic interference. Consequently, we propose that the CFNS gene escapes X inactivation...
  14. doi request reprint Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Müllerian derivatives
    N Bogdanova
    Institute of Human Genetics, ZMBE Westfalian Wilhelms University of Münster and University Clinics Münster, Munster, Germany
    Hum Reprod 25:1339-43. 2010
    ..This disorder of sex development is known as freemartin phenomenon in female cattle from sex-discordant twin pairs...
  15. doi request reprint Bcar3 is expressed in sertoli cells and germ cells of the developing testis in mice
    P Pennekamp
    Institut fur Humangenetik, Universitatsklinikum Munster, Germany
    Sex Dev 5:197-204. 2011
    ..This deletion could result in the generation of a truncated BCAR3 protein lacking functional domains including the SH2 domain. The data presented here suggest that Bcar3 could play a role in gonad development...
  16. ncbi request reprint Genotype/phenotype analysis in a patient with pure and complete trisomy 12p
    Walter Zumkeller
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Am J Med Genet A 129:261-4. 2004
    ..These findings contribute to the genotype/phenotype correlation in trisomy 12p patients...
  17. pmc Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome
    Ilse Wieland
    Institut fur Humangenetik, Otto von Guericke Universitat Magdeburg, 39120 Magdeburg, Germany
    Am J Hum Genet 74:1209-15. 2004
    ..In all cases, mutations were found consistently in obligate male carriers, clinically affected males, and affected heterozygous females. We conclude that mutations in EFNB1 cause CFNS...
  18. ncbi request reprint Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues
    K Langnaese
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Cytogenet Cell Genet 94:233-40. 2001
    ..High expression was detected in specific brain regions and in the interstitium of testes. Five SNPs in the coding region of human MAGED2 were characterized and their allele frequencies determined in a German and Turkish population...
  19. ncbi request reprint No evidence for deletions of the NBS1 gene in lymphomas
    M Stumm
    Department of Human Genetics, Otto von Guericke University, Leipziger Strasse 44, 39120, Magdeburg, Germany
    Cancer Genet Cytogenet 126:60-2. 2001
    ..None of the tumors showed a deletion of the NBS1 gene, demonstrating that deletion of the NBS1 gene is not a major cause or a primary event in tumorigenesis of human B- and T-cell lymphomas...
  20. ncbi request reprint Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease. Accession #Hm0550
    S Jakubiczka
    Department of Human Genetics, Otto von Guericke University, Leipziger Strasse 44, 39120 Magdeburg, Germany
    Hum Genet 118:781. 2006
  21. ncbi request reprint Pseudotrisomy 13: clinical findings and genetic implications
    Solveig Schulz
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Fetal Diagn Ther 20:501-3. 2005
    ..Clinical overlap with hydrolethalus syndrome, Smith-Lemli-Opitz syndrome, Meckel syndrome, and Pallister-Hall syndrome is discussed...
  22. ncbi request reprint Gain of androgen receptor gene copies in primary prostate cancer due to X chromosome polysomy
    Albrecht Röpke
    Institute of Human Genetics, Otto von Guericke University Magdeburg, Germany
    Prostate 59:59-68. 2004
    ..In this study prostatectomy specimens from patients without preoperative therapy were analyzed to determine the possible mechanism of primary antiandrogen resistance...
  23. doi request reprint Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family
    Solveig Schulz
    Institute of Human Genetics, Otto von Guericke University Magdeburg, Germany
    Prenat Diagn 28:42-5. 2008
    ..We report two siblings with Roberts syndrome (RBS), and an attempt to delineate the underlying molecular mechanism leading to familial recurrence...
  24. ncbi request reprint Dispermic chimerism identified during blood group determination and HLA typing
    Mira Mosebach
    Institute of Transfusion Medicine and Immunohematology and the Institute of Human Genetics, Otto von Guericke University Magdeburg, Magdeburg, Germany
    Transfusion 46:1978-81. 2006
    ..Chimerism is the presence of two or more genetically distinct cell populations in one organism...
  25. ncbi request reprint Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC
    Sibylle Jakubiczka
    Institut fur Humangenetik, Otto von Guericke Universitat, Leipziger Str 44, 39120 Magdeburg, Germany
    Eur J Pediatr 166:743-5. 2007
    ....
  26. ncbi request reprint Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p
    Heike Eckel
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Am J Med Genet A 140:1219-22. 2006
    ..Moreover, as a consequence of the chromosomal aberration in the son it can be concluded that a gonadal mosaicism is present in the mother...
  27. ncbi request reprint Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic
    Ilse Wieland
    Institut fur Humangenetik, Otto von Guericke Universitat, Magdeburg, Germany
    Eur J Hum Genet 16:184-91. 2008
    ....
  28. ncbi request reprint Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)
    Ilse Wieland
    Institut fur Humangenetik, Otto von Guericke Universitat, Magdeburg, Germany
    Hum Mutat 26:113-8. 2005
    ....
  29. ncbi request reprint Novel and recurrent mutations in patients with androgen insensitivity syndromes
    Susanne Ledig
    Institut für Humangenetik der Otto von Guericke Universität Magdeburg, Magdeburg, Germany
    Horm Res 63:263-9. 2005
    ..Androgen insensitivity syndrome (AIS) caused by mutations within the androgen receptor gene represents a variety of phenotypes from females with 46,XY karyotype over individuals with ambiguous genitalia to infertile males...
  30. ncbi request reprint Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2
    Sibylle Jakubiczka
    Institut fur Humangenetik, Otto von Guericke University, Leipziger Strasse 44, 39120 Magdeburg, Germany
    Neurogenetics 5:55-9. 2004
    ..Furthermore, we report the genotype/phenotype correlation in a patient lacking a normal ZNF9 allele and a further proband with a "grey zone" allele...
  31. ncbi request reprint Complete molecular remission in a patient with Philadelphia-chromosome positive acute myeloid leukemia after conventional therapy and imatinib
    Kathleen Jentsch-Ullrich
    University Hospital Magdeburg, Division of Hematology Oncology, Leipziger Str 44, 39120 Magdeburg, Germany
    Haematologica 89:ECR15. 2004
    ..Since the b2a2 transcript was still detectable, imatinib was started with quantitative RT-PCR monitoring. This result is promising and worth further evaluation to establish the role of imatinib in patients with Ph-positive AML...
  32. ncbi request reprint Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome
    Petra Muschke
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Prenat Diagn 24:111-3. 2004
    ..We report on the retrospective diagnosis of Nijmegen breakage syndrome (NBS) confirmed by molecular genetic analysis and consecutive prenatal diagnosis in the same family...
  33. ncbi request reprint Establishment and characterization of the permanent human cell line C3842 derived from a secondary chondrosarcoma in Ollier's disease
    Thomas Kalinski
    Department of Pathology, Otto von Guericke University, Leipziger Strasse 44, 39120 Magdeburg, Germany
    Virchows Arch 446:287-99. 2005
    ..In conclusion, the cell line C3842 provides the first model of a secondary chondrosarcoma in Ollier's disease in vitro, which is characterized by distinct features of such malignant cartilage tumors...
  34. ncbi request reprint Jumping translocation of 1q in a BCR/ABL-positive acute lymphoblastic leukemia
    Antje Friederike Pelz
    Institute of Human Genetics, Otto von Guericke University of Magdeburg, Leipziger Strasse 44, H 26, D 39120 Magdeburg, Germany
    Cancer Genet Cytogenet 157:157-9. 2005
    ..To the best of our knowledge, neither JT between 1q and chromosome 3 nor JT between 1q and chromosome 22 have been described in c-ALL. This report emphasizes the frequent involvement of 1q in JT and the association with a poor prognosis...
  35. ncbi request reprint Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings. A Marinesco-Sjögren-like syndrome
    S Schulz
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Neuropediatrics 38:88-90. 2007
    ..In addition, both patients presented with external ophthalmoplegia and paralytic dysphagia. Sequencing of all 10 exons of the SIL1 gene did not detect any SIL1 mutation in our patients...
  36. ncbi request reprint Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytes
    H Eckel
    Clinic for Reproductive Medicine and Gynecological Endocrinology, Magdeburg, Germany
    Cytogenet Genome Res 103:47-53. 2003
    ....
  37. ncbi request reprint Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene
    S Jakubiczka
    Department of Human Genetics, Medical Faculty, Otto von Guericke University, Magdeburg, Germany
    Clin Dysmorphol 10:197-201. 2001
    ..The same mutation was recently reported in a patient with 46,XX karyotype. Additionally, our patient is homozygous for the common polymorphism c507C-->T, while both parents are heterozygous...
  38. ncbi request reprint Ectopic expression of DICE1 suppresses tumor cell growth
    Ilse Wieland
    Institute of Human Genetics, Otto von Guericke Universitat, Magdeburg, Germany
    Oncol Rep 12:207-11. 2004
    ..These results demonstrate that DICE1 has a growth-suppressing activity and interferes with anchorage-independent growth of IGF-IR transformed tumor cells dependent upon IGF-I signaling...
  39. ncbi request reprint Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14
    M Volleth
    Institute of Human Genetics, University of Magdeburg, Magdeburg, Germany
    Cytogenet Genome Res 108:283-6. 2005
    ..Therefore the phenotype of the girl shows few similarities to that of Angelman syndrome patients, although the breakpoint in chromosome 15 in our patient was found to be proximal to the PWS/AS region...
  40. ncbi request reprint High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11)
    Ilse Wieland
    Institut fur Humangenetik, Otto von Guericke Universitat, Magdeburg, Germany
    Genes Chromosomes Cancer 45:945-9. 2006
    ....
  41. ncbi request reprint Further delineation of Wittwer syndrome and refinement of the mapping region
    Ilse Wieland
    Institut fur Humangenetik, Otto von Guericke Universitat, Magdeburg, Germany
    Am J Med Genet A 116:57-60. 2003
    ..However, deletion analysis of identified genes and ESTs in the critical interval for Wittwer syndrome showed no loss of the corresponding marker sequences in the patients...
  42. doi request reprint BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families
    C Fischer
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, Heidelberg, Germany
    Clin Genet 82:478-83. 2012
    ..In families with BRCA1/2-negative index patient we recommend a second screening if another patient with a high probability of carrying a BRCA1/2 mutation is available...
  43. ncbi request reprint Male infertility as a component of Carney complex
    P Wieacker
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Andrologia 39:196-7. 2007
    ..We report on an infertile male with CNC and present evidence that male infertility should be considered as part of the phenotype of CNC...
  44. doi request reprint Copy number variants in premature ovarian failure and ovarian dysgenesis
    S Ledig
    Institute of Human Genetics, Westfalische Wilhelms Universitat Munster, Munster, Germany
    Sex Dev 4:225-32. 2010
    ..g. PLCB1, RB1CC1, MAP4K4), (ii) genes involved in DNA repair (e.g. RBBP8) and (iii) genes involved in folliculogenesis or male fertility in homologs of model organisms (e.g. IMMP2L, FER1L6, MEIG1)...
  45. doi request reprint 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
    S Ledig
    Institute of Human Genetics, Westfalische Wilhelms Universitat Munster, Vesaliusweg 12 14, 48149 Munster, Germany
    Hum Reprod 25:2637-46. 2010
    ..Non-syndromic and syndromic forms can be delineated. Currently, only a minority of cases can be explained by gene mutations...
  46. doi request reprint Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis
    I Georg
    Institute of Human Genetics, University of Freiburg, Freiburg, Germany
    Sex Dev 4:321-5. 2010
    ..Sixty-six XY GD cases with an intact SRY were analyzed for TESCO point mutations or deletions. No mutations were identified. We conclude that TESCO mutations are not a common cause of XY GD...
  47. ncbi request reprint High reliability and sensitivity of the BCR/ABL1 D-FISH test for the detection of BCR/ABL rearrangements
    A F Pelz
    Institut fur Humangenetik, Universitatsklinikum Magdeburg, Leipziger Strasse 44, H 26, 39120 Magdeburg, Germany
    Ann Hematol 81:147-53. 2002
    ....
  48. ncbi request reprint Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome
    I Wieland
    Institut fur Humangenetik, Otto von Guericke Universitat, Magdeburg, Germany
    Clin Genet 72:506-16. 2007
    ..It is important for genetic counseling to be aware that their male offspring may not only be carriers of CFNS but may also be affected by mental retardation and anhidrotic ectodermal dysplasia...
  49. ncbi request reprint Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb
    Stefan Vielhaber
    Department of Neurology, Otto von Guericke University Magdeburg, Medical Center, Leipziger Strasse 44, D 39120 Magdeburg, Germany
    Muscle Nerve 25:540-8. 2002
    ....
  50. ncbi request reprint The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy
    Petra Muschke
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Am J Med Genet A 143:2810-4. 2007
    ..The sister and father of the proband had the same mutation. The sister was more mildly affected and the father was apparently unaffected, demonstrating variable expressivity and reduced penetrance for this mutation...
  51. ncbi request reprint Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0549
    S Jakubiczka
    Department of Human Genetics, Otto von Guericke University, Leipziger Strasse 44, 39120 Magdeburg, Germany
    Hum Genet 118:781. 2006
  52. ncbi request reprint Cloning of Z39Ig, a novel gene with immunoglobulin-like domains located on human chromosome X
    K Langnaese
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Biochim Biophys Acta 1492:522-5. 2000
    ..Abundant expression of transcripts was detected in several human fetal tissues, whereas among adult tissues lung and placenta express highest levels of Z39Ig mRNA...
  53. ncbi request reprint A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia
    I Knoke
    Institut fur Humangenetik, Universitatsklinikum Magdeburg, Germany
    Andrologia 31:199-201. 1999
    ..The identification of a missense mutation in the steroid-binding domain in an infertile male with mild features of androgen insensitivity is reported here...
  54. doi request reprint Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal
    S Jakubiczka
    Institute of Human Genetics, University Hospital, Magdeburg, Germany
    Sex Dev 4:143-9. 2010
    ..Among these genes PRKAR1A is deleted. Inactivating mutations of PRKAR1A cause Carney complex. To our knowledge, this is the first report of a patient with acampomelic campomelic dysplasia, carrying both a deletion and a translocation...
  55. ncbi request reprint Novel chromosomal aberrations in a recurrent malignant meningioma
    Antje Friederike Pelz
    Department of Human Genetics, Otto von Guericke University, Leipziger Strasse 44, D 39120 Magdeburg, Germany
    Cancer Genet Cytogenet 174:48-53. 2007
    ..High chromosomal complexity might be associated with a highly aggressive meningioma phenotype...
  56. ncbi request reprint BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure
    Susanne Ledig
    Institute of Human Genetics, Otto von Guericke University Magdeburg, Magdeburg, Germany
    Am J Obstet Gynecol 198:84.e1-5. 2008
    ..Recently, heterozygous mutations in the X-linked gene encoding bone morphogenetic protein-15 (BMP15) have been identified as a possible cause of ovarian failure...
  57. pmc WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes
    Axel Bohring
    Institut fur Humangenetik, Westfalische Wilhelms Universitat, 48149 Munster, Germany
    Am J Hum Genet 85:97-105. 2009
    ....
  58. ncbi request reprint 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
    Abbas Agaimy
    Institute of Pathology, Klinikum Nürnberg, 90419 Nurnberg, Germany
    Oncol Rep 18:9-15. 2007
    ....
  59. ncbi request reprint A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation
    Ilse Wieland
    Neurogenetics 6:45-7. 2005
  60. ncbi request reprint p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria
    Janbernd Kirschner
    Division of Neuropediatrics and Muscle Disorders, University Children s Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany
    Ann Neurol 57:148-51. 2005
    ....
  61. ncbi request reprint Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs
    Ralf Werner
    Department of Pediatric and Adolescent Medicine, University of Lubeck, Germany
    J Steroid Biochem Mol Biol 101:1-10. 2006
    ..Assessment of transactivation patterns in vitro may be an interesting concept to extend functional description of AR-gene mutations in AIS...