about
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneMutation of POC1B in a severe syndromic retinal ciliopathyMolecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type CMutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsMutations in PYCR1 cause cutis laxa with progeroid featuresMutations in SPINT2 cause a syndromic form of congenital sodium diarrheaMutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinThe 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from AustriaThe canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosisNeu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayMutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGINMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyA large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.Refinement of the GINGF3 locus for hereditary gingival fibromatosis.A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneEvidence for genetic heterogeneity in lymphedema-cholestasis syndrome.SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseLoss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria.Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.GJB2 mutations and degree of hearing loss: a multicenter study.Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.Loss of syntaxin 3 causes variant microvillus inclusion disease.Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.A new, X-linked endothelial corneal dystrophy.The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function
P50
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P50
description
hulumtues
@sq
onderzoeker
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researcher
@en
հետազոտող
@hy
name
Andreas Janecke
@ast
Andreas Janecke
@en
Andreas Janecke
@es
Andreas Janecke
@nl
type
label
Andreas Janecke
@ast
Andreas Janecke
@en
Andreas Janecke
@es
Andreas Janecke
@nl
prefLabel
Andreas Janecke
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Andreas Janecke
@en
Andreas Janecke
@es
Andreas Janecke
@nl
P106
P21
P31
P3835
andreas-janecke
P496
0000-0001-7155-0315