Zobrazeno 1 - 10
of 523
pro vyhledávání: '"B, Le Marec"'
Publikováno v:
Clinical Genetics. 23:132-138
The results provided by the Fédération des Centres d'Etude et de Conservation du Sperme Humain (CECOS) are based on 15,283 requests for AID. They are analysed from the point of view of medical genetics. The genetic indications represent 0.77% of re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28cabd8da0a4284956aa9ed7f37a60ee
https://doi.org/10.1111/j.1399-0004.1983.tb01861.x
https://doi.org/10.1111/j.1399-0004.1983.tb01861.x
Autor:
Martine Blayau, Leila Lazaro, C Dubourg, Véronique David, Laurent Pasquier, Sylvie Odent, B. Le Marec
Publikováno v:
European Journal of Human Genetics. 8:797-800
Holoprosencephaly (HPE) is a severe brain malformation which results from incomplete cleavage of the forebrain during early embryogenesis. The aetiology of HPE is very heterogeneous. Among the genetic factors, SIX3, which is considered to be the func
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c815bf6ca57c94dbd41afde5a995e3c8
https://doi.org/10.1038/sj.ejhg.5200540
https://doi.org/10.1038/sj.ejhg.5200540
Autor:
Arnold Munnich, Michel Vekemans, Martine Blayau, J.-Y. Le Gall, Tania Attié-Bitach, Véronique David, Sylvie Odent, Joelle Augé, Michèle Mathieu, B. Le Marec, Anne-Lise Delezoide
Publikováno v:
Human Molecular Genetics. 8:1683-1689
Holoprosencephaly (HPE), the most common developmental defect of the forebrain and the face, is genetically heterogeneous. One of the genes involved, Sonic hedgehog ( SHH ), on 7q36, has been identified as the first HPE-causing gene both in mouse and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53d9aee23a670d70ce7b63c778b47a51
https://doi.org/10.1093/hmg/8.9.1683
https://doi.org/10.1093/hmg/8.9.1683
Publikováno v:
Prenatal Diagnosis. 15:864-867
In a 20-year-old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a93773e4d095ba893513b3de91e3b2a
https://doi.org/10.1002/pd.1970150913
https://doi.org/10.1002/pd.1970150913
Autor:
P. Andre, Patrick Pladys, Sylvie Odent, Pierre-Yves Donnio, M. C. La Rocca, B. Le Marec, C. Lefrancois, Pierre Bétrémieux
Publikováno v:
Médecine et Maladies Infectieuses. 23:886-888
Resume Les auteurs rapportent l'observation d'un nourrisson de 5 mois ayant presente un tableau d'IRA en relation avec une coqueluche compliquee d'une adenovirose (association non exceptionnelle). Ils soulignent les difficultes dans la confirmation d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a25dfae6955889ef07624e63e3081cfe
https://doi.org/10.1016/s0399-077x(05)80370-1
https://doi.org/10.1016/s0399-077x(05)80370-1
Publikováno v:
Human Genetics. 88:228-230
The oto-palato-digital syndrome (OPD) is a rare X-linked disease with diagnostic skeletal features, conduction deafness, cleft palate and mild mental retardation. Differences in clinical presentation between families have led investigators to classif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f01ddddd25ffe529ff5e2df52bdc2f1c
https://doi.org/10.1007/bf00206078
https://doi.org/10.1007/bf00206078
Publikováno v:
Annales de genetique. 42(2)
We report the first case of the association of Sotos syndrome and gastric carcinoma (containing signet ring cells) in a twin patient. The other-probably monozygous-twin is also affected by the Sotos syndrome. The association of malign tumors in Sotos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bda51614a8e4fbe0c10bd3725b964e8f
https://pubmed.ncbi.nlm.nih.gov/10434127
https://pubmed.ncbi.nlm.nih.gov/10434127
Autor:
C Tréguier, Jouan H, J. Milon, Ans David, Jean-Pierre Fryns, B. Le Marec, Sylvie Odent, Jacqueline Vigneron, Annick Toutain, Alain Verloes
Publikováno v:
American journal of medical genetics. 75(4)
Intracerebral cysts and porencephaly or arachnoid cysts are rarely but are repeatedly reported in orofaciodigital (OFD) syndrome type 1. We report on 2 families in which OFD syndrome type 1 was observed with central nervous system (CNS) malformations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a8f52260249be02cb8554b724a3fea
https://pubmed.ncbi.nlm.nih.gov/9677072
https://pubmed.ncbi.nlm.nih.gov/9677072
Autor:
Philippe Parent, M. Catheline, C. Verlingue, Marie-Pierre Audrézet, J. F. Morin, B. Le Marec, Bernard Mercier, J. P. Codet, Claude Férec, Michel Roussey, Hubert Journel, M. Dagorne, A. Lemoigne, Gilles Rault
Publikováno v:
Human genetics. 96(5)
We have evaluated a two-tier neonatal cystic fibrosis (CF) screening of immunoreactive trypsinogen (IRT) followed by CFTR gene mutation analysis using a systematic scanning of exons 7, 10, and 11, and, if necessary, by direct DNA sequencing. Over an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::324e0ee4ce843307e420497b27b558e5
https://pubmed.ncbi.nlm.nih.gov/8530001
https://pubmed.ncbi.nlm.nih.gov/8530001
Autor:
B. Le Marec, Michel Roussey, D. Le Lannou, I. Dorval, Martine Blayau, J.Y. Legall, A Dabadie, P. Lemoine, Pascal Jézéquel
Publikováno v:
Human reproduction (Oxford, England). 10(2)
Two groups of infertile men with obstructive azoospermia were screened for cystic fibrosis (CF) gene mutations (delta F508, exons 3, 4, 7, 10, 11, 14a, 17b, 19, 20, 21). The first group was composed of 26 patients with congenital agenesis of vas defe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb6c948307cd85154f79fe03e799b8e5
https://pubmed.ncbi.nlm.nih.gov/7539448
https://pubmed.ncbi.nlm.nih.gov/7539448