A R Janecke

Summary

Affiliation: University of Innsbruck
Country: Austria

Publications

  1. ncbi Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria
    Andreas R Janecke
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Schöpfstr 41, A 6020 Innsbruck, Austria
    Hum Genet 111:145-53. 2002
  2. ncbi Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
    Debra A Thompson
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor 48105, USA, and Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Seville, Spain
    Hum Mol Genet 14:3865-75. 2005
  3. ncbi Molecular genetics of type 1 glycogen storage disease
    A R Janecke
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
    Mol Genet Metab 73:117-25. 2001
  4. ncbi Molecular diagnosis of type 1c glycogen storage disease
    A R Janecke
    Institute of Human Genetics, University of Heidelberg, Germany
    Hum Genet 104:275-7. 1999
  5. ncbi Mutation analysis in glycogen storage disease type 1 non-a
    A R Janecke
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
    Hum Genet 107:285-9. 2000
  6. ncbi De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss
    A R Janecke
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
    Hum Genet 108:269-70. 2001
  7. ncbi GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form
    Andreas R Janecke
    Department of Medical Biology and Human Genetics, Innsbruck Medical University, Schopfstrasse 41, A 6020 Innsbruck, Austria
    Am J Med Genet A 133:128-31. 2005
  8. ncbi Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1
    Andreas R Janecke
    Department of Medical Biology and Human Genetics, Innsbruck Medical University, Austria
    J Pediatr 145:705-9. 2004
  9. ncbi Mutation spectrum of type I glycogen storage disease in Hungary
    G Miltenberger-Miltenyi
    Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
    J Inherit Metab Dis 28:939-44. 2005
  10. ncbi Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
    J Löffler
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Innsbruck, Austria
    Eur J Hum Genet 9:226-30. 2001

Detail Information

Publications30

  1. ncbi Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria
    Andreas R Janecke
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Schöpfstr 41, A 6020 Innsbruck, Austria
    Hum Genet 111:145-53. 2002
    ..Based on population and patient data, an overall GJB2 mutation carrier frequency of 1.3% was estimated for West-Austria...
  2. ncbi Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
    Debra A Thompson
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor 48105, USA, and Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Seville, Spain
    Hum Mol Genet 14:3865-75. 2005
    ..Haplotype analysis in the family in which LCA3 was mapped excluded RDH12 as the LCA3 gene and thus suggests the presence of a novel arRD gene in this region...
  3. ncbi Molecular genetics of type 1 glycogen storage disease
    A R Janecke
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
    Mol Genet Metab 73:117-25. 2001
    ..Rapid confirmation of clinically suspected diagnosis of GSD 1, reliable carrier testing, and prenatal diagnosis are facilitated by mutation analyses of the chromosome 11-bound G6PT gene as well as the chromosome 17-bound G6Pase gene...
  4. ncbi Molecular diagnosis of type 1c glycogen storage disease
    A R Janecke
    Institute of Human Genetics, University of Heidelberg, Germany
    Hum Genet 104:275-7. 1999
    ....
  5. ncbi Mutation analysis in glycogen storage disease type 1 non-a
    A R Janecke
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
    Hum Genet 107:285-9. 2000
    ..Diagnosis has been confirmed in three patients suspected of having GSD1 non-a without enzymatic studies involving liver biopsy, thus emphasising the advantage of G6PT mutation analysis for all GSD1 non-a patients...
  6. ncbi De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss
    A R Janecke
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
    Hum Genet 108:269-70. 2001
    ..This case illustrates the risk of a possible erroneous diagnosis of autosomal recessive hearing loss in a sporadic case...
  7. ncbi GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form
    Andreas R Janecke
    Department of Medical Biology and Human Genetics, Innsbruck Medical University, Schopfstrasse 41, A 6020 Innsbruck, Austria
    Am J Med Genet A 133:128-31. 2005
    ..This hypothesis was further substantiated by our observation of a variable clinical course in unrelated KID patients from Austria harboring the common D50N mutation in GJB2...
  8. ncbi Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1
    Andreas R Janecke
    Department of Medical Biology and Human Genetics, Innsbruck Medical University, Austria
    J Pediatr 145:705-9. 2004
    ..We report two novel truncating mutations, as well as the first genomic mutational analysis of GBE1 using denaturing high performance liquid chromatography...
  9. ncbi Mutation spectrum of type I glycogen storage disease in Hungary
    G Miltenberger-Miltenyi
    Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
    J Inherit Metab Dis 28:939-44. 2005
    ..Our data are suitable to provide DNA-based and thus noninvasive confirmation of diagnosis in Hungarian patients with this disorder...
  10. ncbi Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
    J Löffler
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Innsbruck, Austria
    Eur J Hum Genet 9:226-30. 2001
    ..A mutation 35delG carrier rate of 0.9% was observed among 672 controls from West-Austria. Cx26 mutations were found associated with mild to profound, and with asymmetric hearing impairment...
  11. ncbi Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris
    Robert Gruber
    Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria
    Eur J Hum Genet 15:179-84. 2007
    ..In a control population from west-Austria a combined p.R501X and c.2282del4 carrier frequency of 6/110 (5.45%) was observed. We confirm that these FLG variants are common, but our results point to the existence of additional modifiers...
  12. ncbi Joubert-like syndrome unlinked to known candidate loci
    Andreas R Janecke
    Departments of Pediatrics and Ophthalmology, University Hospital Innsbruck, Institutes of Medical Biology, Human Genetics, and Pathology, University of Innsbruck, Innsbruck, Austria
    J Pediatr 144:264-9. 2004
    ..Homozygosity mapping excluded three JS candidate loci as sites harboring the disease gene. We thus delineate an autosomal recessive disorder, distinct from JS and related conditions...
  13. pmc Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations
    Gabriel Miltenberger-Miltenyi
    Division of Clinical Genetics, Innsbruck Medical University, Innsbruck, Austria
    Eur J Hum Genet 17:1154-9. 2009
    ..The CMT1Adup, GJB1, MPZ and PMP22 mutation frequencies were in the range of those described in other CMT patient collectives with different ethnical backgrounds...
  14. ncbi Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene
    Gabriel Miltenberger-Miltenyi
    Section of Clinical Genetics, Innsbruck Medical University, Anichstrasse 35, A 6020 Innsbruck, Austria
    Arch Neurol 64:966-70. 2007
    ..NEFL mutations were found to be associated with axonal and demyelinating variants of CMT...
  15. pmc Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome
    M Auer-Grumbach
    Institute of Human Genetics, Medical University of Graz, Austria
    Neuropediatrics 39:33-8. 2008
    ..This study suggests that mutations in the GDAP1 gene are a common cause of early-onset AR-CMT. In patients with early-onset demyelinating AR-CMT and severe sensory loss PRX is one of the genes to be tested...
  16. ncbi CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort
    Heinz Zoller
    Department of Medicine, Clinical Division of Gastroenterology and Hepatology, Innsbruck Medical University, Austria
    Wien Klin Wochenschr 119:527-33. 2007
    ..2% in the central European population. The aim of the current study was to investigate the association between clinical manifestations of pancreatitis and CFTR carrier status...
  17. pmc Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome
    Barbara Rohkamm
    Institute of Human Genetics, Medical University Graz, Austria
    J Neurol Sci 263:100-6. 2007
    ..Mutations in the heat-shock proteins HSPB1 and HSPB8 can cause related distal hereditary motor neuropathies (dHMN) and are considered candidates for dHMN-V, CMT2, and SS...
  18. pmc Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea
    Peter Heinz-Erian
    Department of Pediatrics II, Innsbruck Medical University, A 6020 Innsbruck, Austria
    Am J Hum Genet 84:188-96. 2009
    ..We delineate syndromic CSD as a distinct disease entity caused by SPINT2 loss-of-function mutations. SPINT2 mutations might lead to an excess of yet unknown serine protease activity in affected tissues...
  19. doi Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria
    Andreas R Janecke
    Division of Clinical Genetics, Innsbruck Medical University, Innsbruck, Austria
    J Hum Genet 55:182-5. 2010
    ..These data describe a large SDHD deletion at the genomic sequence level and indicate that gross SDHD deletions could be a founder PGL mutation in certain populations...
  20. ncbi Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome
    Martin Fruhwirth
    Department of Pediatrics, University Hospital Innsbruck, the Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
    J Pediatr 142:441-7. 2003
    ..The infant may represent an instance of a previously undescribed lymphedema-cholestasis syndrome...
  21. ncbi A new, X-linked endothelial corneal dystrophy
    Eduard Schmid
    Department of Ophthalmology, Innsbruck Medical University, Innsbruck, Austria
    Am J Ophthalmol 141:478-487. 2006
    ..To describe the clinical spectrum, the histopathologic findings obtained from one corneal button, and the genetic mapping of an X-linked endothelial corneal dystrophy (XECD)...
  22. doi "Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype
    Vera Grossmann
    Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Clinical Genetics, Innsbruck Medical University, Innsbruck, Austria
    Am J Med Genet A 149:2522-6. 2009
    ..Thus, our case clearly characterizes the phenotype of pure partial duplication 3q more exactly, and moreover, indicates that small chromosome rearrangements might lead to growth in the upper normal range or even cause overgrowth...
  23. pmc Refinement of the GINGF3 locus for hereditary gingival fibromatosis
    Michael Pampel
    Division of Clinical Genetics, Innsbruck Medical University, Schoepfstrasse 41, 6020 Innsbruck, Austria
    Eur J Pediatr 169:327-32. 2010
    ..We refined the GINGF3 locus to a 6.56-cM, 8.27-Mb region containing 112 known and hypothetical genes, and our data and a search of the literature suggest that GINGF3 is a major adHGF locus...
  24. doi MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity
    Thomas Muller
    Department of Pediatrics II, Innsbruck Medical University, 6020 Innsbruck, Austria
    Nat Genet 40:1163-5. 2008
    ..In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID...
  25. pmc Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13
    Cecilia Giunta
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital, CH 8032 Zurich, Switzerland
    Am J Hum Genet 82:1290-305. 2008
    ....
  26. pmc Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
    Lars Riff Jensen
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Hum Genet 76:227-36. 2005
    ..Our results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function...
  27. pmc GJB2 mutations and degree of hearing loss: a multicenter study
    Rikkert L Snoeckx
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Am J Hum Genet 77:945-57. 2005
    ..Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes...
  28. ncbi Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
    Andreas R Janecke
    Institut fur Medizinische Biologie und Humangenetik, Medizinische Universitat Innsbruck, Innsbruck, Austria
    Nat Genet 36:850-4. 2004
    ..Our studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells...
  29. ncbi Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
    Aileen Sandilands
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Nat Genet 39:650-4. 2007
    ..i. = 20-1,136)). We found three additional rare null mutations in this case series, suggesting that the genetic architecture of filaggrin-related atopic dermatitis consists of both prevalent and rare risk alleles...
  30. ncbi The phenotype of early-onset retinal degeneration in persons with RDH12 mutations
    Andreas Schuster
    Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Schleichstrasse 12 16, D 72076 Tubingen, Germany
    Invest Ophthalmol Vis Sci 48:1824-31. 2007
    ..To describe the retinal dystrophy phenotype associated with mutations in RDH12, the gene encoding a retinoid dehydrogenase/reductase expressed in the photoreceptor cells...