Zobrazeno 1 - 10
of 17
pro vyhledávání: '"M L Chauvet"'
Autor:
Stanislas Lyonnet, Arnold Munnich, M. Le Merrer, Valérie Cormier-Daire, M. L. Chauvet, Marie-Louise Briard
Publikováno v:
Journal of Medical Genetics. 37:520-524
We report on the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (six boys and one girl) belonging to five unrelated families. Flexion deformities of the knees and hips with c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bcd2205606986b24fbbd25323a8b4d8
https://doi.org/10.1136/jmg.37.7.520
https://doi.org/10.1136/jmg.37.7.520
Autor:
Josseline Kaplan, N Philip, M L Chauvet, Sonia Abdelhak, Philippe Burlet, R Spiegel, Yves Dumez, Judith Melki, Valérie Raclin, S Gilgenkrantz
Publikováno v:
Journal of Medical Genetics. 29:171-174
Werdnig-Hoffmann disease is a common autosomal recessive neuromuscular disorder that results in paralysis and death. No treatment to prevent this disease or to alter its unremitting course has been found. Recently, linkage analysis with cloned DNA pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47594df45e74f8bc90ff76ca528db1b6
https://doi.org/10.1136/jmg.29.3.171
https://doi.org/10.1136/jmg.29.3.171
Publikováno v:
Pediatric radiology. 27(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf67144834122a870aeb48de35809bf5
https://pubmed.ncbi.nlm.nih.gov/9133348
https://pubmed.ncbi.nlm.nih.gov/9133348
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2c964e1c617a9b35875141ede1226e6f
https://pubmed.ncbi.nlm.nih.gov/8796074
https://pubmed.ncbi.nlm.nih.gov/8796074
Publikováno v:
Archives de Pédiatrie. 3:S347
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94264fb3860355780fda3bda137466e3
https://doi.org/10.1016/0929-693x(96)86099-4
https://doi.org/10.1016/0929-693x(96)86099-4
Publikováno v:
Journal de genetique humaine. 35(2-3)
The authors report three cases of a new syndrome which characteristic anomalies are facial dysmorphism with anteverted nose, down slanting palpebral fissures, ptosis, severe microretrognatia, polydactyly. The authors insist on the particular severe g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::26ab82f89da48aaaafc3ed52f67cf35c
https://pubmed.ncbi.nlm.nih.gov/3612097
https://pubmed.ncbi.nlm.nih.gov/3612097
Publikováno v:
Annales de genetique. 31(4)
Our experience over three years (1984-1986) is described in carrier detection and prenatal testing for hemophilia. We have analysed 50 families: 37 hemophilia A and 13 hemophilia B, 22 isolated cases and 28 familial. Eighty-three women belonging to t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::42b57854ddf2634b2ec1d70ef17797ea
https://pubmed.ncbi.nlm.nih.gov/3265305
https://pubmed.ncbi.nlm.nih.gov/3265305
Publikováno v:
Journal de genetique humaine. 36(3)
After reviewing the main features of the Marfan syndrome (musculoskeletal, ocular, cardiovascular, pulmonary abnormalities), its autosomal dominant inheritance with high penetrance but variable phenotype and presence of "soft" conditions preventing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1990dee3e49f5d3e39b765cfd4105b81
https://pubmed.ncbi.nlm.nih.gov/3411304
https://pubmed.ncbi.nlm.nih.gov/3411304
Publikováno v:
Archives francaises de pediatrie. 41(5)
A familial study was undertaken on 382 probands with transposition of the great vessels, 348 with coarctation of the aorta and 143 with hypoplastic left heart syndrome. It allowed to assess in sibs the frequency of identical congenital heart diseases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d7e4d12b39ef12cb1fcbab1f84da9081
https://pubmed.ncbi.nlm.nih.gov/6466030
https://pubmed.ncbi.nlm.nih.gov/6466030
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