Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Sylvie Compain"'
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
https://doi.org/10.1016/0924-4204(96)83388-9
Autor:
Henriette A. Delemarre-van de Waal, Christine Petit, Marc Delpech, Philippe Bouchard, Françoise Baverel, Sylvie Compain-Nouaille, Marie-Laure Kottler, Christophe Pêcheux, Stefan Vermeulen, Nadia Soussi-Yanicostas, Dominique Le Tessier, Frank Speleman, Franco Sánchez-Franco, Roney S. Coimbra, Robert Saura, Sedigheh Delmaghani, Anne De Paepe, Yvan Bachelot, Jean-Claude Carel, Andrea Amalfitano, Catherine Dodé, Jean-Pierre Hardelin, Barbara Goulet-Salmon, Jacqueline Levilliers, Sylvie Cabrol, Jean-Michel Dupont, Jacques Young, Nathalie Le Dû, Corinne Cruaud, Odile Richard
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
https://doi.org/10.1038/ng1122
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
https://doi.org/10.1006/geno.1993.1249
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
https://pubmed.ncbi.nlm.nih.gov/14512974
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
https://pubmed.ncbi.nlm.nih.gov/9361030
Autor:
Jean Weissenbach, Corinne Cruaud, Christine Petit, Dominique Weil, Francis M, Boven K, Charachon R, Sonia Abdelhak, Delphine Samson, Roland Heilig, Jacqueline Vigneron, Iman Sahly, Sylvie Compain, Van Regemorter N, Bedbeder P, Kalatzis, Michel Leibovici, Didier Lacombe, Bitner-Glindzicz M, Christophe Vincent
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
https://pubmed.ncbi.nlm.nih.gov/9020840
Autor:
Christine Bellané-Chantelot, Christophe Vincent, Eric Haan, Rima Slim, Annie Nivelon, Fatima Graia, Didier Lacombe, Jean Weissenbach, Maria de Lurdes Pereira, David F. Callen, Denis Le Paslier, Sylvie Compain, Jocelyne Hélias, Christine Petit, Marie-France Croquette, Jacqueline Vigneron, Bruno Lacroix, Vasiliki Kalatzis, Michel Broyer, Jacqueline Levilliers, Daniel Cohen
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
https://pubmed.ncbi.nlm.nih.gov/7849713
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
https://doi.org/10.1006/geno.1996.0604
Autor:
Dode, Catherine, Levilliers, Jacqueline, Dupont, Jean-Michel, De Paepe, Anne, Le Du, Nathalie, Soussi-Yanicostas, Nadia, Coimbra, Roney S., Delmaghani, Sedigheh, Compain-Nouaille, Sylvie, Baverel, Francoise, Pecheux, Christophe, Le Tessier, Dominique, Cruaud, Corinne, Delpech, Marc, Speleman, Frank, Vermeulen, Stefan, Amalfitano, Andrea, Bachelot, Yvan, Bouchard, Philippe
Publikováno v:
Nature Genetics. Apr2003, Vol. 33 Issue 4, p463. 3p.
Autor:
Blons, H., Feldmann, D., Duval, V., Messaz, O., Denoyell, F., Loundon, N., Sergout-Allaoui, A., Houang, M., Duriez, F., Lacombe, D., Delobel, B., Leman, J., Catros, H., Journel, H., Drouin-Garraud, V., Obstoy, M.-F., Toutain, A., Oden, S., Toublanc, J. E., Couderc, R.
Publikováno v:
Clinical Genetics; Oct2004, Vol. 66 Issue 4, p333-340, 8p