Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jean-Claude Janaud"'
Autor:
Stéphane Serero, Alain Verloes, Marion Gérard-Blanluet, Séverine Drunat, Nathalie Le Dû, Kada Krabchi, Jean-Claude Janaud, Céline Dupont, Clarisse Baumann, Annie Elbez, Azzedine Aboura, Anne-Claude Tabet, Brigitte Benzacken, Valérie Bélien, Marie-Line Jacquemont
Publikováno v:
American Journal of Medical Genetics Part A. :1871-1874
Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the ∼60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0447268402d765d3edafd73fdc3aaa4f
https://doi.org/10.1002/ajmg.a.32392
https://doi.org/10.1002/ajmg.a.32392
Autor:
Jean-Claude Janaud
Publikováno v:
Enfances & Psy. :26-37
Resume Les complications medicales a la naissance de la gemellite conduisent frequemment a l’hospitalisation des nouveau-nes. Une rapide revue de ces complications permet de presenter les reponses pratiques qui peuvent etre apportees par les profes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::baebdfc16d86a90a4bc81fca43a058b4
https://doi.org/10.3917/ep.034.0026
https://doi.org/10.3917/ep.034.0026
Autor:
Katia Mage, Annie Elbez, Kira Apse, Martine Sinico, Serge Amselem, Claude Danan, Jason Neal, Jean-Claude Janaud, Volney L. Sheen, Kalotina Machinis, Marion Gérard-Blanluet, Lanto Ratsimbazafy, Christopher A. Walsh, Pierre Brugières, Férechté Encha-Razavi
Publikováno v:
American Journal of Medical Genetics Part A. :1041-1046
We report on the case of dizygotic twin boys, born prematurely to an asymptomatic mother. Bilateral periventricular heterotopias with enlarged ventricles were discovered at birth in both twins. One of the twins died prematurely of bronchopulmonary co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba5922f599fadfae2cf4a73c9c469526
https://doi.org/10.1002/ajmg.a.31197
https://doi.org/10.1002/ajmg.a.31197
Autor:
Gilles Dassieu, Férechté Encha-Razavi, Claude Danan, Jean-Claude Janaud, Marion Gérard-Blanluet, Martine Sinico, Françoise Lelong, Elsa Borghi, Sylvie Odent
Publikováno v:
American Journal of Medical Genetics. 111:295-300
The main features of trisomy 9 syndrome in mosaic and non-mosaic forms have been thoroughly described. Characteristic traits are low-set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart defects, abnormal han
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::20f84fcf885588f0687bb2bb05366ee5
https://doi.org/10.1002/ajmg.10481
https://doi.org/10.1002/ajmg.10481
Publikováno v:
American Journal of Respiratory and Critical Care Medicine. 153:1571-1576
The prosthetic dead space makes a significant contribution to the total dead space in low-birth-weight premature newborns receiving artificial ventilation in response to respiratory distress. Use of an endotracheal tube with capillaries molded into t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c704dff655fd908162f3e9cbdd55bd38
https://doi.org/10.1164/ajrccm.153.5.8630604
https://doi.org/10.1164/ajrccm.153.5.8630604
Publikováno v:
Soins. Pediatrie, puericulture. (250)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6fb86992dcd2c2a91b0d837810434049
https://pubmed.ncbi.nlm.nih.gov/19813670
https://pubmed.ncbi.nlm.nih.gov/19813670
Autor:
Marion, Gérard-Blanluet, Claude, Danan, Martine, Sinico, Françoise, Lelong, Elsa, Borghi, Gilles, Dassieu, Jean-Claude, Janaud, Sylvie, Odent, Férechté, Encha-Razavi
Publikováno v:
American journal of medical genetics. 111(3)
The main features of trisomy 9 syndrome in mosaic and non-mosaic forms have been thoroughly described. Characteristic traits are low-set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart defects, abnormal han
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4cef042fb328e7598f5401b1e8b6a1a1
https://pubmed.ncbi.nlm.nih.gov/12210326
https://pubmed.ncbi.nlm.nih.gov/12210326
Autor:
Annie Elbez, Anne Bazin, Marion Gérard-Blanluet, Alain Verloes, Jean-Claude Janaud, Claude Danan
Publikováno v:
Annales de genetique. 44(3)
We report a case of mosaic trisomy 15 with mental retardation, facial dysmorphism, and hemihypertrophy, but no manifestations of Prader-Willi or Angelman syndromes. Mosaic trisomy 15 (11%) was discovered at the amniocentesis. Uniparental disomy for c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6845893516de4cbd9e2f6c4d9a1c5e6
https://pubmed.ncbi.nlm.nih.gov/11694227
https://pubmed.ncbi.nlm.nih.gov/11694227