18 résultats avec le mot-clé: 'mutations pcdh cause autosomal recessive cone rod dystrophy'
The frameshift mutation found in PCHD21, one of three sequenced genes of 11 candidate genes in the linkage interval, the segregation of the mutation with the disease in the family,
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Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Com- mon Cause of Autosomal Recessive Rod-Cone Dystrophy...
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Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Unusual type of benign X-linked muscular
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MESH Keywords Adolescent ; Adult ; Child ; DNA Mutational Analysis ; Electroretinography ; European Continental Ancestry Group ; genetics ; Female ; Fluorescein Angiography ; France
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Also used were the specific eye diseases including: Retinitis Pigmentosa, Bardet-Biedl Syndrome, Cone Dystrophy, Cone-Rod Dystrophy, Newfoundland Rod-Cone Dystrophy, Achromatopsia,
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Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized
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L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des
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Safouane Ben Salah, Satomi Kamei, Audrey Sénéchal, Séverine Lopez, Christian Bazalgette, Cécile Bazalgette, Claudie Malrieu Eliaou, Xavier.. Zanlonghi,
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TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations... TRPM1 Mutations are
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Different mutations in the LMNA gene cause autosomal dominant and autosomalrecessive Emery-Dreifuss muscular dystrophy. Lamin A/C gene mutation associated with dilated
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Together, these results establish that loss-of-function mutations of CDC14A cause autosomal recessive severe to profound congenital deafness, and suggest that the hearing
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Different mutations in the LMNA gene cause autosomal dominant and autosomalrecessive Emery-Dreifuss muscular dystrophy. Lamin A/C gene mutation associated with dilated
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Genotyping was performed using 2 to 3 polymorphic commercially available microsatellite markers from ABI PRISM Linkage Mapping Set version 2.5 (Applied Bio- systems, Foster city,
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The purpose of this study was to identify mutations in one of the genes, PRPF31, in French patients with autosomal dominant RP, to perform genotype-phenotype correlations of
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Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.. Mutations of keratino cyte transglutaminase in lamellar
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Homozygosity mapping, screening of positional candi- date genes, whole Exome Next Generation Sequencing and data mining were utilized in the effort to identify the disease causing
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A striking association between the nature of the variants and clinical severity of the syndrome was observed: individuals with loss-of-function alleles had more
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Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1.. Autosomal recessive
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