Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Jocelyne Attia-Sobol"'
Autor:
Henri Plauchu, Jocelyne Attia-Sobol, Catherine Fallet-Bianco, Danielle Vitrey, Gaetan Lesca, Alain Verloes
Publikováno v:
American Journal of Medical Genetics Part A. :757-763
Orofaciodigital syndromes (OFD) are a group of diseases classified according to the phenotype and the mode of inheritance. We report on a fetus presenting with some features of the OFDs but with additional global cerebral dysgenesis. Ultrasonography
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::114a9f2367f41983c55da7b7f658514b
https://doi.org/10.1002/ajmg.a.31144
https://doi.org/10.1002/ajmg.a.31144
Autor:
Gaetan Lesca, Dominique Boggio, Jocelyne Attia-Sobol, Yves Morel, Henri Plauchu, Laurence Michel-Calemard
Publikováno v:
Prenatal Diagnosis. 24:519-523
This is the first report of a fetus affected with campomelic acampomelic dysplasia presenting with increased nuchal translucency. Ultrasonography at 13 weeks of amenorrhea showed a nuchal translucency 5.6 mm thick. The karyotype performed on amniotic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c85d899276105e0336225716157d407
https://doi.org/10.1002/pd.935
https://doi.org/10.1002/pd.935
Autor:
Laurent Pasquier, Véronique David, Martine Blayau, Céline Aguilella, Sylvie Odent, Christèle Dubourg, Leila Lazaro, Jocelyne Attia-Sobol, Jacqueline Vigneron
Publikováno v:
Human Genetics. 112:131-134
Holoprosencephaly (HPE) is the most common severe brain anomaly in humans, which results from incomplete cleavage of the forebrain during early embryogenesis. The aetiology of HPE is very heterogeneous. Among the genetic factors, TGIF ( TG-interactin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4765825868a676443b486a5e5fa0a2f6
https://doi.org/10.1007/s00439-002-0862-8
https://doi.org/10.1007/s00439-002-0862-8
Autor:
Danielle Vitrey, Marc Hermier, Férechté Encha-Razavi, Jocelyne Attia-Sobol, Henri Plauchu, Alain Verloes
Publikováno v:
American Journal of Medical Genetics. 99:14-20
We report on two new cases of syndromic lissencephaly in two consanguineous sibs, with skeletal abnormality, born to young, healthy, second cousin parents with healthy children. In Case 1, fetal ultrasound screening at 32 weeks of gestation showed mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745d765baa251d07583d16a22ba51f55
https://doi.org/10.1002/1096-8628(20010215)99:1<14::aid-ajmg1121>3.0.co
https://doi.org/10.1002/1096-8628(20010215)99:1<14::aid-ajmg1121>3.0.co
Autor:
Patrick Edery, Jocelyne Attia-Sobol, L. Thomas, J.M. Aurand, D. Raudrant, H. Plauchu, T. Martin-Denavit
Publikováno v:
American Journal of Medical Genetics. 94:338-340
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71d083a40f4bc9459d163361e3feafee
https://doi.org/10.1002/1096-8628(20001002)94:4<338::aid-ajmg13>3.0.co
https://doi.org/10.1002/1096-8628(20001002)94:4<338::aid-ajmg13>3.0.co
Autor:
Alixe Clémenson, Fabienne Allias, Jocelyne Attia-Sobol, Raymonde Bouvier, Frédérique Dijoud, Annie Buenerd, Férechté Encha-Razavi
Publikováno v:
Fetal and pediatric pathology. 23(5-6)
A third type of lissencephaly that does not fufil diagnostic criteria of type I ("classical") and type II ("cobblestone") lissencephaly was described by our group as a new entity identified as OMIM 601160. This lethal familial syndrome comprises micr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1a52b38602ee5c72f5dd1af8523f303
https://pubmed.ncbi.nlm.nih.gov/16137167
https://pubmed.ncbi.nlm.nih.gov/16137167
Autor:
J. P. Pracros, Patrice Foray, Pierre Arnould, Catherine Jacquet, Laurent Guibaud, François Golfier, Jocelyne Attia-Sobol, Fabienne Champion, Annie Buenerd
Publikováno v:
Prenatal diagnosis. 24(9)
Objectives To report focal sonographic periventricular pattern related to residual germinal matrix lesions in foetal cytomegalic infection in association with mild ventriculomegaly seen during the third trimester of pregnancy correlating with neuropa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b343255cd6fecc61ea5dd06f7847e32
https://pubmed.ncbi.nlm.nih.gov/15386462
https://pubmed.ncbi.nlm.nih.gov/15386462
Autor:
H. Plauchu, Raffaella Cusmai, Eleonore Eymard-Pierre, M. Di Capua, Enza Maria Valente, Enrico Bertini, Vincenzo Leuzzi, Jocelyne Attia-Sobol, A. Ponzone, Gaetan Lesca, Odile Boespflug-Tanguy, Filippo M. Santorelli
Objective: To report clinical, neuroradiologic, neurophysiologic, and genetic findings on 16 patients from 11 unrelated families with a remarkable uniform phenotype characterized by infantile ascending hereditary spastic paralysis (IAHSP).Methods: Si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::711557d2acba7fafe788fae2907e2a9a
http://hdl.handle.net/11386/3949623
http://hdl.handle.net/11386/3949623
Autor:
Valérie Cormier-Daire, H. Plauchu, Jocelyne Attia-Sobol, Alain Verloes, Nathalie Dagoneau, M. Le Merrer, Ana Belinda Campos-Xavier, Laurence Faivre, Stanislas Lyonnet, Arnold Munnich
Publikováno v:
American journal of medical genetics. 112(4)
Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial "dwarfism" and characterized by the association of 1) severe pre- and postnatal growth retardation, 2) microcephaly with mental retardation,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7f00bf3eb70cd31fa19f8861cf9f28
https://pubmed.ncbi.nlm.nih.gov/12376940
https://pubmed.ncbi.nlm.nih.gov/12376940
Autor:
Henri Plauchu, Marianne Till, T. Martin-Denavit, K. Abel-Lablanche, J. Theuil, Jocelyne Attia-Sobol, Dominique Boggio, D. Vitrey, M. Teyssier, F. Champion
Publikováno v:
Prenatal Diagnosis. 22:487-488
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3e48d8ae0c05b563aa7a2c4ab7edd1d9
https://doi.org/10.1002/pd.343
https://doi.org/10.1002/pd.343