A Reis

Summary

Affiliation: Humboldt University
Country: Germany

Publications

  1. ncbi request reprint Hereditary spastic paraplegia caused by mutations in the SPG4 gene
    J Burger
    Institute of Human Genetics, Charite, Humboldt Universitat, Berlin, Germany
    Eur J Hum Genet 8:771-6. 2000
  2. pmc Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13
    Y A Lee
    Max Delbrück Centrum for Molecular Medicine and Department of Pediatric Pneumology and Immunology, Humboldt University, Berlin, Germany
    Am J Hum Genet 67:1020-4. 2000
  3. pmc Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients
    U Huffmeier
    Institute of Human Genetics, University of Erlangen Nuremberg, 91054 Erlangen, Germany
    J Med Genet 43:517-22. 2006
  4. ncbi request reprint Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity
    D Horn
    Institute of Human Genetics, Charite, Humboldt University, Berlin, Germany
    Am J Med Genet 92:285-92. 2000
  5. pmc Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1
    U Huffmeier
    Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, 91054 Erlangen, Germany
    J Med Genet 46:736-44. 2009
  6. pmc Localization of a gene for syndactyly type 1 to chromosome 2q34-q36
    K Bosse
    Institute of Human Genetics, University of Bonn, Germany
    Am J Hum Genet 67:492-7. 2000
  7. pmc Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
    K Saar
    1Mikrosatellitenzentrum, Max Delbrück Centrum, Humboldt University, Berlin, Germany
    Am J Hum Genet 65:1666-71. 1999
  8. ncbi request reprint Nijmegen breakage syndrome: consequences of defective DNA double strand break repair
    M Digweed
    Institut fur Humangenetik, Charite Campus Virchow Klinikum, Humboldt Universitat zu Berlin, Berlin, Germany
    Bioessays 21:649-56. 1999
  9. pmc Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22
    M Jung
    Mikrosatellitenzentrum, Max Delbrück Centrum, Berlin, Germany
    Am J Hum Genet 65:1068-77. 1999
  10. pmc Molecular karyotyping using an SNP array for genomewide genotyping
    A Rauch
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    J Med Genet 41:916-22. 2004

Detail Information

Publications62

  1. ncbi request reprint Hereditary spastic paraplegia caused by mutations in the SPG4 gene
    J Burger
    Institute of Human Genetics, Charite, Humboldt Universitat, Berlin, Germany
    Eur J Hum Genet 8:771-6. 2000
    ..If a threshold level of spastin were critical for axonal preservation, such threshold dosage effects might explain the variable expressivity and incomplete penetrance of SPG4-linked AD-HSP...
  2. pmc Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13
    Y A Lee
    Max Delbrück Centrum for Molecular Medicine and Department of Pediatric Pneumology and Immunology, Humboldt University, Berlin, Germany
    Am J Hum Genet 67:1020-4. 2000
    ..This study confirms linkage of psoriasis to the HLA region on chromosome 6p and suggests additional regions on chromosomes 8q and 21q for further investigations...
  3. pmc Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients
    U Huffmeier
    Institute of Human Genetics, University of Erlangen Nuremberg, 91054 Erlangen, Germany
    J Med Genet 43:517-22. 2006
    ..We investigated its role in susceptibility to psoriasis, the relevance of possibly other disease-causing variants, and interdependency of the major risk factor for psoriasis at PSORS1...
  4. ncbi request reprint Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity
    D Horn
    Institute of Human Genetics, Charite, Humboldt University, Berlin, Germany
    Am J Med Genet 92:285-92. 2000
    ..1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype...
  5. pmc Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1
    U Huffmeier
    Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, 91054 Erlangen, Germany
    J Med Genet 46:736-44. 2009
    ..Psoriasis is a genetically complex, chronic inflammatory skin disease. The authors have previously identified a susceptibility locus on chromosome 19p13 (PSORS6)...
  6. pmc Localization of a gene for syndactyly type 1 to chromosome 2q34-q36
    K Bosse
    Institute of Human Genetics, University of Bonn, Germany
    Am J Hum Genet 67:492-7. 2000
    ..Key recombination events in affected individuals defined a 9.4-cM region between markers D2S2319 and D2S344. The identification of the responsible gene will give further insights into the molecular basis of limb development...
  7. pmc Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
    K Saar
    1Mikrosatellitenzentrum, Max Delbrück Centrum, Humboldt University, Berlin, Germany
    Am J Hum Genet 65:1666-71. 1999
    ..We conclude that Joubert syndrome is clinically and genetically heterogeneous and that one locus maps to chromosome 9q...
  8. ncbi request reprint Nijmegen breakage syndrome: consequences of defective DNA double strand break repair
    M Digweed
    Institut fur Humangenetik, Charite Campus Virchow Klinikum, Humboldt Universitat zu Berlin, Berlin, Germany
    Bioessays 21:649-56. 1999
    ....
  9. pmc Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22
    M Jung
    Mikrosatellitenzentrum, Max Delbrück Centrum, Berlin, Germany
    Am J Hum Genet 65:1068-77. 1999
    ..73 at recombination fraction 0 at D2S2339. The identification of an additional locus for familial autosomal dominant DCM underlines the genetic heterogeneity and may assist in the elucidation of the causes of this disease...
  10. pmc Molecular karyotyping using an SNP array for genomewide genotyping
    A Rauch
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    J Med Genet 41:916-22. 2004
    ..Classical cytogenetic methods are limited in resolution and dependent on highly skilled labour, while methods with higher resolution, based on molecular cytogenetics approaches such as matrix CGH, are not widely available...
  11. ncbi request reprint Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
    R Varon
    Institute of Human Genetics, Charite Humboldt University, Berlin, Germany
    Cell 93:467-76. 1998
    ..Five further truncating mutations were identified in patients with other distinct haplotypes. The domains found in nibrin and the NBS phenotype suggest that this disorder is caused by defective responses to DNA double-strand breaks...
  12. ncbi request reprint Loss-of-function mutations in the filaggrin gene: no contribution to disease susceptibility, but to autoantibody formation against citrullinated peptides in early rheumatoid arthritis
    U Huffmeier
    Institute of Human Genetics, University Erlangen Nuremberg, Erlangen, Germany
    Ann Rheum Dis 67:131-3. 2008
    ..To test the potential relevance of mutations of the filaggrin (FLG) gene for disease susceptibility and elicitation of humoural autoimmunity in RA, a case-control association study of three loss-of-function FLG variants was performed...
  13. pmc A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3
    R C Betz
    Institute of Human Genetics, University of Bonn, D 53111 Bonn, Germany
    Am J Hum Genet 66:1979-83. 2000
    ..Localization of the locus for HSS to 6p21.3 is a first step toward identification of the gene. The gene will give important insights into the molecular and cellular basis of hair growth on the scalp...
  14. pmc A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3
    A Leal
    Institute of Human Genetics, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Hum Genet 68:269-74. 2001
    ..The phenotype and locus are different from those of demyelinating CMT4F, recently mapped to 19q13.1-13.3; hence, the disease affecting the Costa Rican family constitutes an axonal, autosomal recessive CMT subtype (ARCMT2B)...
  15. doi request reprint Evaluation of risk loci for schizophrenia derived from genome-wide association studies in a German population
    D Schanze
    Institute of Human Genetics, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet B Neuropsychiatr Genet 156:198-203. 2011
    ....
  16. ncbi request reprint Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome
    J Kochling
    Department of Pediatric Oncology Hematology, Charite, Humboldt University, Berlin, Germany
    Eur J Hum Genet 9:599-605. 2001
    ....
  17. ncbi request reprint Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL)
    R Varon
    Institute of Human Genetics, Charite, Humboldt University, 13353 Berlin, Germany
    Cancer Res 61:3570-2. 2001
    ..No additional mutations were found on the second allele in any of these seven patients. The observed NBS1 gene mutations in ALL patients points to its possible involvement in the pathogenesis of this disease...
  18. ncbi request reprint Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23
    S Appel
    Department of Molecular Genetics and Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Berlin, Germany
    Genomics 75:6-8. 2001
    ..Like myotubularin-related protein-5, MTMR8 has no dual-specificity phosphatase domain. It contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation...
  19. ncbi request reprint Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus
    U Zechner
    Max Planck Institute for Molecular Genetics, Ihnestrasse, Berlin, Germany
    J Evol Biol 17:453-60. 2004
    ..Thus, we conclude that even in closely related groups divergent molecular mechanisms may be involved in the production of phenotypically similar post-zygotic barriers against hybridization...
  20. pmc Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort
    J Lascorz
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Ann Rheum Dis 64:951-4. 2005
    ....
  21. ncbi request reprint A major susceptibility locus for atopic dermatitis maps to chromosome 3q21
    Y A Lee
    Gene Mapping Centre, Max Delbrück Centre MDC for Molecular Medicine, Berlin, Germany
    Nat Genet 26:470-3. 2000
    ..Our findings indicate that distinct genetic factors contribute to susceptibility to atopic dermatitis and that the study of this disease opens new avenues to dissect the genetics of atopy...
  22. ncbi request reprint Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci
    P Hensen
    Max Delbruck Center MDC for Molecular Medicine, Berlin, Germany
    Exp Dermatol 12:490-6. 2003
    ..Analysis of a dense marker set from these refined regions will eventually allow identification of the underlying susceptibility alleles...
  23. pmc The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene
    P Nurnberg
    Institute of Medical Genetics, Charite Medical School, Berlin, Germany
    Am J Hum Genet 61:918-23. 1997
    ..Therefore, we tested the GHR gene as a candidate gene. However, recombination events between the CMD locus and the GHR gene identified in two members of this family clearly exclude this candidate...
  24. ncbi request reprint Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene
    R Varon
    Institute of Human Genetics, Children s Hospital, Universitatsklinikum Rudolf Virchow, Free University, Berlin, Germany
    Hum Mol Genet 4:1463-4. 1995
  25. ncbi request reprint First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation
    A Rauch
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nurnberg, Erlangen, Germany
    Am J Med Genet 99:338-42. 2001
    ..Thus, manifestations attributable to this deletion are reduced weight for height, minor facial anomalies, ADHD and some learning and fine motor deficiencies, while seizures may be associated with deletions of LETM1...
  26. ncbi request reprint Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13
    A Krebsova
    Department of Molecular Genetics and Gene Mapping Center, Max Delbrueck Center for Molecular Medicine, Berlin, Germany
    J Invest Dermatol 115:664-7. 2000
    ..Isolated congenital nail dysplasia probably represents a novel isolated defect of nail development. The localization of this gene is, therefore, the first step towards the identification of a new factor in nail formation...
  27. ncbi request reprint The scoliosis (sco) mouse: a new allele of Pax1
    I M Adham
    Institute of Human Genetics, University of Gottingen, Gottingen, Germany
    Cytogenet Genome Res 111:16-26. 2005
    ..The percentage of CD90+ cells is also reduced but in contrast to other Pax1 mutants no alteration of the expression level of the CD90 (Thy-1) could be found...
  28. pmc The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21
    K Saar
    Institut fur Humangenetik, Virchow Klinikum, Humboldt University, Berlin, Germany
    Am J Hum Genet 60:605-10. 1997
    ..Since the same allele is seen in both former complementation groups, genetic homogeneity of NBS/BBS can be considered as proved...
  29. ncbi request reprint Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
    A Reis
    Institute of Human Genetics, Free University, Berlin, Germany
    Nat Genet 6:174-9. 1994
    ..These findings provide further evidence that mutations in keratin genes may cause epidermolysis and hyperkeratosis and that hyperkeratosis of palms and soles may be caused by different mutations in the KRT9 gene...
  30. pmc Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum
    A B Ekici
    Institute of Human Genetics, University of Regensburg, Regensburg, Germany
    Mol Syndromol 1:99-112. 2010
    ..We have thus identified a further essential component of the Wnt signalling pathway in human brain development...
  31. ncbi request reprint Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes
    T Immervoll
    GSF National Research Center for Environment and Health, Institute of Epidemiology, Neuherberg, Germany
    Hum Mutat 18:327-36. 2001
    ..022). In summary, fine mapping data enable us to confine asthma candidate regions, while variants of EDN1 and NOS1, or nearby genes, may play an important role in this context...
  32. ncbi request reprint Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene
    J Graw
    National Research Center for Environment and Health GSF, Institute of Mammalian Genetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 42:2909-15. 2001
    ..The purpose of the study was morphologic description, mapping of the mutant gene, and characterization of the underlying molecular lesion in a particular mutant, Aey7...
  33. ncbi request reprint Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract
    J Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, D 85764, Germany
    Exp Eye Res 73:867-76. 2001
    ..Since both mutations affect similar regions in the first extracellular domain this region appears to be critically important for its function in lens transparency...
  34. ncbi request reprint A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions
    I M P Gommans
    Neuromuscular Centre, Nijmegen Institute of Neurology, University Medical Center Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Brain 126:1545-51. 2003
    ..The novel phenotype of nemaline myopathy in the two presented families corresponds to an also novel, as yet uncharacterized, genotype...
  35. ncbi request reprint [Currarino syndrome: variability of imaging findings in 22 molecular-genetically identified (HLXB9 mutation) patients from five families]
    T Riebel
    Abteilung Pädiatrische Radiologie d Klinik für Strahlenheilkunde, Charite Universitatsmedizin Berlin
    Rofo 176:564-9. 2004
    ..the variability of findings in patients with proven HLBX9 mutations...
  36. ncbi request reprint The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism
    M Silva-Ramos
    Department of Urology, Santo Antonio General Hospital, Porto, Portugal
    Int Braz J Urol 32:330-4; discussion 335. 2006
    ..We examined the significance of the CAG repeat polymorphism in the pathogenesis of cryptorchidism...
  37. pmc A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene
    - Vanita
    J Med Genet 38:392-6. 2001
  38. ncbi request reprint Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25
    J M Risk
    Department of Clinical Dental Sciences, The University of Liverpool, Liverpool, L69 3BX, United Kingdom
    Genomics 59:234-42. 1999
    ....
  39. ncbi request reprint Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse
    J Graw
    Institute of Mammalian Genetics, GSF Research Center for Environment and Health, Neuherberg, D 85764, Germany
    Genomics 62:67-73. 1999
    ..The mutation will be referred to as Cryba1(po1). This particular mouse mutation provides an excellent animal model for a human congenital zonular cataract with suture opacities, which is caused by a mutation in the homologous gene...
  40. ncbi request reprint Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene
    S Weber
    Department of Pediatrics, Philipps University, Marburg, Germany
    Eur J Hum Genet 8:414-22. 2000
    ..This study confirms the implication of paracellin-1 defects in FHHNC and points to a predominant role of this protein in the paracellular reabsorption of divalent cations in the TAL...
  41. ncbi request reprint Epigenetic targeting in the mouse zygote marks DNA for later methylation: a mechanism for maternal effects in development
    B Pickard
    Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge CB2 4AT, UK
    Mech Dev 103:35-47. 2001
    ..The most significant consequence is that the genotype of the mother can influence the epigenotype of the offspring by this marking process. A number of parental and imprinting effects may be explained by this epigenetic marking...
  42. ncbi request reprint Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3
    P A Farndon
    University Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, United Kingdom
    Genomics 23:486-9. 1994
    ..6 and a sex-averaged map distance of 10.4 cM. No double recombinants were detected, in agreement with the apparently complete level of interference predicted from the male chiasmata map...
  43. ncbi request reprint Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma
    H C Hennies
    Institut fur Humangenetik, Freie Universitat Berlin, Germany
    Hum Genet 93:649-54. 1994
    ..Our results provide further evidence for mutational heterogeneity in EPPK, and for the involvement of keratins in diseases of hyperkeratinisation and epidermolysis...
  44. ncbi request reprint Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster
    A Weber
    Department of Paediatrics, University Hospital Dresden, Germany
    Hum Mol Genet 5:2061-6. 1996
    ..This region harbors the type II keratin gene cluster, and potential candidate genes include SCN8A and HOXC genes...
  45. pmc Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree
    H Omran
    University Children s Hospital, 79106 Freiburg, Germany
    Am J Hum Genet 66:118-27. 2000
    ..These findings will have implications for diagnosis and genetic counseling in hereditary chronic renal failure and provide the basis for identification of the responsible gene...
  46. pmc Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia
    C Bergmann
    Department of Human Genetics, Aachen University, Aachen, Germany
    Am J Hum Genet 79:1105-9. 2006
    ..To the best of our knowledge, this is the first gene known to be responsible for an isolated, nonsyndromic nail disorder...
  47. ncbi request reprint Ectopic transcription of the parathyroid hormone gene in lymphocytes, lymphoblastoid cells and tumour tissue
    O Handt
    Institut fur Humangenetik, Freien Universitat Berlin, Germany
    J Endocrinol 135:249-56. 1992
    ..The level of 'ectopic' transcription of the PTH gene in lymphoblastoid cells appeared to be resistant to the administration of both vitamin D and phorbol esters...
  48. ncbi request reprint Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21
    A Reis
    Institut fur Humangenetik, Freie Universitat Berlin, Federal Republic of Germany
    Hum Genet 90:113-6. 1992
    ..The KRT9 gene has not yet been cloned; however, since the genes for most acidic keratins are clustered, it is highly probable that it too will map to this region. We therefore propose KRT9 as the candidate gene for EPPK...
  49. ncbi request reprint Genome search for susceptibility loci of common idiopathic generalised epilepsies
    T Sander
    Epilepsy Genetics Group, Department of Neurology, University Hospital Charite, Humboldt University of Berlin, Germany
    Hum Mol Genet 9:1465-72. 2000
    ..The chromosomal segments identified harbour several genes involved in the regulation of neuronal ion influx which are plausible candidates for mutation screening...
  50. ncbi request reprint Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia
    C Lenzner
    Institute for Medical Genetics, Faculty of Medicine, Humboldt University Berlin Charité, Germany
    Blood 83:2817-22. 1994
    ..Carrier detection and prenatal diagnosis are now feasible for the affected families...
  51. ncbi request reprint Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis
    P Hensen
    Department of Dermatology, University of Munster, Munster, Germany
    Br J Dermatol 149:381-5. 2003
    ..G) and in a recent case-control study the IL10.G13 (144 bp) allele was found to be associated with familial early onset psoriasis (type 1 psoriasis) having a susceptible effect...
  52. pmc Hereditary isolated renal magnesium loss maps to chromosome 11q23
    I C Meij
    Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 64:180-8. 1999
    ..We conclude that this region encompasses a gene, involved in renal magnesium handling, that is mutated in our patients and is different from the gene involved in intestinal magnesium handling...
  53. ncbi request reprint Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma
    S Niemann
    , , Giessen, Germany
    Am J Med Genet 98:32-6. 2001
    ..25 at 1q21-q23 (marker D1S2675); 2) haplotype analysis was most consistent for 1q21-q23 markers; and 3) the locus was excluded from more than 97% of the genome using a total of 381 highly polymorphic markers...
  54. ncbi request reprint Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
    R C Betz
    Institut fur Humangenetik, Universitat Bonn, Wilhelmstrasse 31, D 53111, Bonn, Germany
    Nat Genet 28:218-9. 2001
    ..5) in all five families analyzed. Mutations in CAV3 have also been described in limb-girdle muscular dystrophy type 1C (LGMD1C; refs. 6,7), demonstrating the allelism of dystrophic and non-dystrophic muscle diseases...
  55. pmc The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster
    M Vollmer
    University Children s Hospital, Freiburg University, Germany
    Am J Hum Genet 63:1724-31. 1998
    ..These findings confirm that GFND is a distinct disease entity among the fibrillary glomerulopathies. Gene identification will provide insights into the molecular interactions of Fn in GFND, as well as in genetically unaltered conditions...
  56. ncbi request reprint Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B
    R H Wallace
    Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women s and Children s Hospital, North Adelaide, SA, Australia
    Nat Genet 19:366-70. 1998
    ....
  57. ncbi request reprint Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14
    T Sander
    Department of Neurology, University Hospital Rudolf Virchow, Humboldt University of Berlin, Germany
    Am J Med Genet 88:182-7. 1999
    ..If genetic variation in this region confers susceptibility to JME, then its effect size might be too small or its occurrence too rare to be detected in the investigated families...
  58. pmc Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts
    J Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, D 85764 Neuherberg, Germany
    Genetics 157:1313-20. 2001
    ..Therefore, it is concluded that the novel protein destroys the sensitive cellular structure of the eye lens...
  59. ncbi request reprint Exclusion of the neuronal nicotinic acetylcholine receptor alpha7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus
    J Meyer
    Department of Psychiatry and Psychotherapy, University of Wuerzburg, Wuerzburg, Germany
    Mol Psychiatry 7:220-3. 2002
    ..This result provides strong evidence that a gene located telomeric to CHRNA7 is causative for the pathogenesis of catatonic schizophrenia in this family...
  60. ncbi request reprint Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation
    E Vafiadaki
    School of Biochemistry and Genetics, University of Newcastle upon Tyne, UK
    Neuroreport 12:625-9. 2001
    ..The identification of this mutation has implications for the various groups using this widely available mouse stock...
  61. ncbi request reprint A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
    R L Robinson
    Department of Biology, University of Leeds, UK
    Hum Mol Genet 6:953-61. 1997
    ..This study adds to the evidence for considerable genetic heterogeneity in MH and will provide a route to further our understanding of the molecular pathology of the condition...
  62. ncbi request reprint Genome-wide, large-scale production of mutant mice by ENU mutagenesis
    M H Hrabe de Angelis
    Institute of Experimental Genetics, GSF Research Center for Environment and Health, Neuherberg, Germany
    Nat Genet 25:444-7. 2000
    ..Our mutant lines are freely accessible to non-commercial users (for information, see http://www.gsf.de/ieg/groups/enu-mouse.html)...