Výsledky vyhledávání - "Sylvie Compain"

Deficits héréditaires de l'audition chez l'enfant

Autor: Christine Petit, Sébastien Chardenoux, Mohamed Drira, A. Belkahia, Christophe Vincent, Jacqueline Levilliers, Saida Benarab, Nabiha Salem, Viki Kalatzis, Catherine Dodé, Elie El Zir, Hammadi Ayadi, Sandrine Marlin, Sylvie Compain, Jacques Loiselet, Christophe Place, Hassan Chaib

Publikováno v: Annales de l'Institut Pasteur / Actualités. 6:304-309

Les deficits hereditaires de l'audition constituent l'atteinte sensorielle la plus frequente chez l'enfant. Certains sont associes a d'autres symptomes (surdites syndromiques). La plupart se presentent comme un deficit sensoriel isole. Ces derniers,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d705af0ea240b61dade96028d29e99ef
https://doi.org/10.1016/0924-4204(96)83388-9

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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Publikováno v: Nature Genetics. 33:463-465

We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of roughly 540 kb associated with a dominant form of Kallmann syndrome, KAL2. We establish here t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2b8fe9bd675767bdbaeee8422a0c5acd
https://doi.org/10.1038/ng1122

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Construction of a Yeast Artificial Chromosome Contig Spanning the Pseudoautosomal Region and Isolation of 25 New Sequence-Tagged Sites

Autor: Daniel Cohen, Sylvie Compain, Denis Le Paslier, Jacqueline Levilliers, Jean Weissenbach, Christine Petit, David C. Klein, Liat Mintz, Alain Billault, Rima Slim, Pierre Ougen, Alain Bernheim, Susan J. Donohue

Publikováno v: Genomics. 16:691-697

Thirty-one yeast artificial chromosomes (YACs) from the human pseudoautosomal region were identified by a combination of sequence-tagged site (STS) screenings and colony hybridizations, using a subtelomeric interspersed repetitive element mapping pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2eda16c69593ea1db3e36bf78348310
https://doi.org/10.1006/geno.1993.1249

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DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1

Autor: Mark Lathrop, Christine Petit, Sedigheh Delmaghani, Dominique Weil, Afsaneh Ataie, Arnaud Lemainque, Asadollah Aghaie, Sirous Zeinali, Sylvie Compain-Nouaille

Publikováno v: European journal of human genetics : EJHG. 11(10)

We report on a novel localization for a recessive form of deafness (DFNB), by linkage analysis in an Iranian consanguineous family. Affected individuals suffer from prelingual profound sensorineural hearing loss. Genome-wide analysis led to the chara

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f858d4b0a42407a0b6b529129c1262d7
https://pubmed.ncbi.nlm.nih.gov/14512974

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Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

Autor: Delphine Samson, Rainer König, Jean Weissenbach, Corinne Cruaud, Sonia Abdelhak, Fabienne Levi-Acobas, Christine Petit, Roland Heilig, Michèle Mathieu, Sylvie Compain, Jacqueline Vigneron, Dominique Weil, Christophe Vincent, Martine Le Merrer, Vasiliki Kalatzis

Publikováno v: Scopus-Elsevier

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder, characterised by the association of branchial, otic and renal anomalies with variable degrees of severity. We have recently identified EYA1 , a human homologue of the Drosophila eye

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb7a2596629fe043500ad5d276366388
https://pubmed.ncbi.nlm.nih.gov/9361030

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A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

Publikováno v: Nature genetics. 15(2)

A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the disease. This gene is a human homologue of the Drosophila eyes absent gene (eya), and was therefore called EYA1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d054a203388d7a3e7a52faf7eb29cb39
https://pubmed.ncbi.nlm.nih.gov/9020840

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A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene

Publikováno v: Scopus-Elsevier

The analysis of a de novo 8q12.2-q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, hydrocephalus and trapeze aplasia. This is the fi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::800c51a2e73cf8abebad7b31d8f87ed7
https://pubmed.ncbi.nlm.nih.gov/7849713

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Characterization of a Translocation-Associated Deletion Defines the Candidate Region for the Gene Responsible for Branchio-Oto-Renal Syndrome

Autor: Christine Petit, Christophe Vincent, Sonia Abdelhak, Vasiliki Kalatzis, Sylvie Compain

Publikováno v: Genomics. 38:108

Fluorescence in situ hybridization analysis of an 8q translocation breakpoint, dir ins(8)(q24.11;q13.3;q21.13), carried by an individual presenting with Branchio-Oto-Renal (BOR) syndrome, resulted in the identification of an associated deletion. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::707eae90ae77a4efca1eeaa7789612ac
https://doi.org/10.1006/geno.1996.0604

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