A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. - Wikidata - awgldk - TriplyDB

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

http://www.wikidata.org/entity/Q39035915

about

Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null mice An Introduction to the Genetics of Normal and Defective Hearing A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22 Autosomal recessive nonsyndromic deafness genes: a review Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3 An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds Nonsyndromic hearing impairment: unparalleled heterogeneity Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel Hearing loss: a common disorder caused by many rare alleles.Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness.A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.Temporal bone histopathology in connexin 26-related hearing loss.Beginning of a molecular era in hearing and deafness.Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss Autosomal recessive nonsyndromic hearing loss.Unconventional myosins and the genetics of hearing loss.Whole-exome sequencing and its impact in hereditary hearing loss Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.Cochlear implantation in common forms of genetic deafness Human sequences homologous to the gene for the cochlear protein Ocp-II do not map to currently known non-syndromic hearing loss loci.Two portuguese cochlear implanted dizygotic twins: a case report.Inherited connexin mutations associated with hearing loss.Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.Non-syndromic autosomal-dominant deafness.Screening of connexin 26 in nonsyndromic hearing loss.The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions.Connexins in hearing loss: a comprehensive overview.Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.Direct isolation of human transcribed sequences from yeast artificial chromosomes through the application of RNA fingerprinting Causes of childhood deafness in Pukhtoonkhwa Province of Pakistan and the role of consanguinity.Connexin-26 mutations in deafness and skin disease.Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.Genetic hearing loss: the journey of discovery to destination - how close are we to therapy?

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P2860

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

http://www.wikidata.org/entity/Q39035915

description

1994 nî lūn-bûn

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1994年の論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年论文

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1994年论文

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1994年论文

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name

A non-syndrome form of neurose ...... eric region of chromosome 13q.

@en

A non-syndrome form of neurose ...... eric region of chromosome 13q.

@nl

type

label

A non-syndrome form of neurose ...... eric region of chromosome 13q.

@en

A non-syndrome form of neurose ...... eric region of chromosome 13q.

@nl

prefLabel

A non-syndrome form of neurose ...... eric region of chromosome 13q.

@en

A non-syndrome form of neurose ...... eric region of chromosome 13q.

@nl

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P1433

Nature Genetics

P1476

A non-syndrome form of neurose ...... eric region of chromosome 13q.

@en

P2093

Belkahia A

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Ben Arab S

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Blanchard S

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Guilford P

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Levilliers J

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Weissenbach J

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P2860

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

A second-generation linkage map of the human genome.

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.

A microsatellite genetic linkage map of human chromosome 13.

An alternative dystrophin transcript specific to peripheral nerve.

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

The structural and functional diversity of dystrophin.

P2888

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24-28

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10.1038/NG0194-24

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1

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Christine Petit

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15062083

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8136828

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