A Meindl

Summary

Affiliation: University of Munich
Country: Germany

Publications

  1. pmc Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer
    B Wappenschmidt
    Department of Obstetrics and Gynaecology, University Hospital of Cologne, Cologne, Germany
    Breast Cancer Res 7:R775-9. 2005
  2. ncbi Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population
    A Meindl
    Department of Medical Genetics, Ludwig Maximilians University, Munich, Germany
    Int J Cancer 97:472-80. 2002
  3. ncbi Classification of non-bacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients
    A Jansson
    Dr v Haunersches Kinderspital, Ludwig Maximilians University, Lindwurmstr 4, D 80337 Munich, Germany
    Rheumatology (Oxford) 46:154-60. 2007
  4. ncbi Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene
    T Klopstock
    Department of Neurology, Klinikum Grosshadern, University of Munich, Germany
    Acta Neuropathol 97:139-42. 1999
  5. ncbi X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis
    G Rudolph
    Augenklinik der Universität München, Mathildenstrasse 8, 80336 Munich, Germany
    Graefes Arch Clin Exp Ophthalmol 239:167-72. 2001
  6. ncbi Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)
    O Brandau
    Department of Medical Genetics, LMU, 80336 Munchen, Germany
    Hum Mol Genet 8:2407-13. 1999
  7. pmc A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)
    J Ramser
    Department of Medical Genetics, Ludwig Maximilians University, Munich, Germany
    J Med Genet 41:679-83. 2004
  8. pmc A new genetic locus for X linked progressive cone-rod dystrophy
    R Jalkanen
    Department of Obstetrics and Gynaecology, Helsinki University Central Hospital, Helsinki, Finland
    J Med Genet 40:418-23. 2003
  9. ncbi [Counselling, genetic testing and prevention in women with hereditary breast- and ovarian cancer. Interdisciplinary recommendations of the consortium "Hereditary Breast- and Ovarian Cancer" of the German Cancer AiD]
    R Schmutzler
    Technische Universitat Munchen, Frauenklinik rechts der Isar, Munich
    Zentralbl Gynakol 125:494-506. 2003
  10. ncbi Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity
    C M Pusch
    Molecular Genetics Laboratory, University Eye Hospital Tubingen, Auf der Morganstelle 15, 72076 Tubingen, Germany
    Int J Mol Med 7:155-61. 2001

Collaborators

Detail Information

Publications26

  1. pmc Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer
    B Wappenschmidt
    Department of Obstetrics and Gynaecology, University Hospital of Cologne, Cologne, Germany
    Breast Cancer Res 7:R775-9. 2005
    ..Unclassified variants (UVs) of unknown clinical significance are frequently detected in the BRCA2 gene. In this study, we have investigated the potential pathogenic relevance of the recurrent UV S384F (BRCA2, exon 10)...
  2. ncbi Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population
    A Meindl
    Department of Medical Genetics, Ludwig Maximilians University, Munich, Germany
    Int J Cancer 97:472-80. 2002
    ..The decision for or against molecular diagnosis is now aided by considering the expected mutation detection rates that greatly depend on family history and structure...
  3. ncbi Classification of non-bacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients
    A Jansson
    Dr v Haunersches Kinderspital, Ludwig Maximilians University, Lindwurmstr 4, D 80337 Munich, Germany
    Rheumatology (Oxford) 46:154-60. 2007
    ..To define non-bacterial osteitis (NBO) as a clinical entity possibly associated with autoimmune manifestations. Patients with sterile osteitis were analysed to develop diagnostic criteria...
  4. ncbi Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene
    T Klopstock
    Department of Neurology, Klinikum Grosshadern, University of Munich, Germany
    Acta Neuropathol 97:139-42. 1999
    ..In view of these results, genetic counseling and predictions on the course of FA are particularly difficult, even if an expansion mutation is found...
  5. ncbi X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis
    G Rudolph
    Augenklinik der Universität München, Mathildenstrasse 8, 80336 Munich, Germany
    Graefes Arch Clin Exp Ophthalmol 239:167-72. 2001
    ..A four-generation family with this disorder, including asymptomatic carrier females, was investigated by molecular analysis of the OA1 gene...
  6. ncbi Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)
    O Brandau
    Department of Medical Genetics, LMU, 80336 Munchen, Germany
    Hum Mol Genet 8:2407-13. 1999
    ..The role of SH2D1A as a putative tumour suppressor gene remains to be investigated...
  7. pmc A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)
    J Ramser
    Department of Medical Genetics, Ludwig Maximilians University, Munich, Germany
    J Med Genet 41:679-83. 2004
    ..Our finding indicates that a protein, possibly associated with ribosomal stability, can be linked to X linked mental retardation (XLMR)...
  8. pmc A new genetic locus for X linked progressive cone-rod dystrophy
    R Jalkanen
    Department of Obstetrics and Gynaecology, Helsinki University Central Hospital, Helsinki, Finland
    J Med Genet 40:418-23. 2003
    ....
  9. ncbi [Counselling, genetic testing and prevention in women with hereditary breast- and ovarian cancer. Interdisciplinary recommendations of the consortium "Hereditary Breast- and Ovarian Cancer" of the German Cancer AiD]
    R Schmutzler
    Technische Universitat Munchen, Frauenklinik rechts der Isar, Munich
    Zentralbl Gynakol 125:494-506. 2003
    ..These measures were integrated in a quality assurance concept for structure, process and result optimization. Thus, all requirements for introducing these services into routine patient management have been fulfilled...
  10. ncbi Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity
    C M Pusch
    Molecular Genetics Laboratory, University Eye Hospital Tubingen, Auf der Morganstelle 15, 72076 Tubingen, Germany
    Int J Mol Med 7:155-61. 2001
    ..Subsequent mutation analyses in CSNB1 patients revealed no pathogenic sequence alterations in DFFRX and CASK genes, but retain candidates for other diseases mapping to that region...
  11. ncbi Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype
    A Kempe
    Department of Obstetrics and Gynecology, University of Bonn Medical Center, Germany
    Gynecol Endocrinol 16:107-11. 2002
    ..Analyses of the DAX1 gene in the dosage sensitive sex reversal locus on chromosome Xp21 by Southern blot analysis showed no duplications...
  12. ncbi Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease--report of three cases
    B Hugle
    Hospital for Children and Adolescents, University of Leipzig, 04317 Leipzig, Germany
    J Clin Immunol 24:515-22. 2004
    ..Development of persistent hypogammaglobulinemia after severe primary EBV infection seems to be a specific diagnostic sign for XLP even in males with unremarkable family history...
  13. pmc Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene
    H Lubs
    J Med Genet 43:e30. 2006
    ..Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984...
  14. ncbi The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
    C M Pusch
    Molekulargenetisches Labor, Universitats Augenklinik, Tubingen, Germany
    Nat Genet 26:324-7. 2000
    ..Future functional analysis of nyctalopin might therefore give insight into the fine-regulation of cell-cell contacts in the retina...
  15. ncbi Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1
    F K Jacobi
    Molekulargenetisches Labor, Universitats Augenklinik, Tubingen, Germany
    Hum Genet 107:89-91. 2000
    ..4 region...
  16. ncbi Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins
    A Meindl
    Abteilung für pädiatrische Genetik, Universitat Munchen, Germany
    Nat Genet 2:139-43. 1992
    ..These findings and the clinical features of this disorder suggest a possible role for the Norrie gene in neuroectodermal cell-cell interaction...
  17. ncbi Mutations in the candidate gene for Norrie disease
    W Berger
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mol Genet 1:461-5. 1992
    ..These findings, and the absence of functionally relevant base changes in healthy controls, emphasize the causal role of this candidate gene in Norrie disease and pave the way for reliable diagnosis and carrier detection...
  18. pmc Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism
    A Meindl
    Abteilung für pädiatrische Genetik, Ludwig Maximilians Universitat Munchen, Germany
    J Med Genet 30:838-42. 1993
    ..By comparative deletion mapping we can define a deletion interval, which locates the OA1 gene proximal to DXS143 and distal to DXS85, with the breakpoints providing valuable starting points for cloning strategies...
  19. pmc BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
    M Vihinen
    Department of Biosciences, Division of Biochemistry, University of Helsinki, PO Box 56, Helsinki, FIN 00014, Finland
    Nucleic Acids Res 25:166-71. 1997
    ..The putative structural implications of all the missense mutations are given in the database showing 228 unique molecular events, including a novel missense mutation causing an R28C substitution as previously seen in the Xid mouse...
  20. ncbi Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course
    E Holinski-Feder
    Abteilung Medizinische Genetik, Klinikum Innenstadt, Universitat Munchen, Germany
    Pediatrics 101:276-84. 1998
    ..To obtain genotype/ phenotype correlations, predicted protein aberrations were correlated with the clinical course of the disease...
  21. ncbi An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
    T M Strom
    Abteilung Medizinische Genetik der Ludwig Maximilians Universität, Munchen, Germany
    Nat Genet 19:260-3. 1998
    ..These data indicate that aberrations in a voltage-gated calcium channel, presumably causing a decrease in neurotransmitter release from photoreceptor presynaptic terminals, are a frequent cause of CSNB2...
  22. ncbi Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
    A J Coffey
    The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK
    Nat Genet 20:129-35. 1998
    ..SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response...
  23. ncbi The human elk-1 gene family: the functional gene and two processed pseudogenes embedded in the IgH locus
    N Harindranath
    Center for Biologics, Evaluation and Research, FDA, 8800 Rockville Pike, Bethesda, MD 20892, USA
    Gene 221:215-24. 1998
    ..Gene/pseudogene sequence comparisons and Southern blots of primate DNAs suggest that both the pseudogene insertion and the locus duplication occurred between about 30 and 60 million years ago...
  24. ncbi UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2
    O Brandau
    Abteilung für Medizinische Genetik, Kinderpoliklinik der Universität, Munchen, Germany
    Eur J Hum Genet 6:459-66. 1998
    ..Thus mutations of UHX1, and probably PCTK1, do not appear to cause common X-linked eye diseases. UHX1's role in patients with mental retardation may be appropriate for further investigations into UHX1 function...
  25. ncbi A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
    R Zemni
    INSERM Unité 129 ICGM, CHU Cochin, Paris, France
    Nat Genet 24:167-70. 2000
    ..We speculate that through this interaction, TM4SF2 might have a role in the control of neurite outgrowth...
  26. ncbi Isolation of a candidate gene for Norrie disease by positional cloning
    W Berger
    Department of Human Genetics, University of Nijmegen, The Netherlands
    Nat Genet 1:199-203. 1992
    ..No homologous sequences were found in DNA and protein databases indicating that this cDNA is part of a gene encoding a 'pioneer' protein...