Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Joelle Augé"'
Autor:
Géraldine Goudefroye, Marie-Odile Peter, Philippe Loget, Heather C. Etchevers, Dominique Gaillard, Houda Karmous-Benailly, Marie Gonzales, Madeleine Joubert, Ghislaine Plessis, Martine Le Merrer, Férechté Encha-Razavi, Marie-Claire Gubler, Joelle Augé, Chantal Esculpavit, Nora Brahimi, Eric Detrait, Catherine Ozilou, Yoann Sirot, Tania Attié-Bitach, B. Simon-Bouy, Michel Vekemans, Julia Tantau, Hélène Dollfus, Arnold Munnich, Sophie Audollent, Laure Clech, Jelena Martinovic, Corinne Jeanne-Pasquier, Anne-Lise Delezoide
Publikováno v:
The American Journal of Human Genetics. 76(3):493-504
Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other manifestations include diabetes mellitus, heart di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f58759603e79054f41f01213c9baf092
Autor:
Joelle Augé, Nadia A. Oey, Jos P.N. Ruiter, Hans R. Waterham, Ronald J.A. Wanders, Tania Attié-Bitach, Frits A. Wijburg, Céline Steiner, Michel Vekemans, Margarethe E. J. den Boer
Publikováno v:
Pediatric research, 57(6), 755-759. Lippincott Williams and Wilkins
Patients with very long-chain acyl-CoA dehydrogenase (VLCAD) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)/mitochondrial trifunctional protein (MTP) deficiency, disorders of the mitochondrial long-chain fatty acid oxidation, can present with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0b725929b18749dd8fd94bcb789d7c5
https://doi.org/10.1203/01.pdr.0000161413.42874.74
https://doi.org/10.1203/01.pdr.0000161413.42874.74
Autor:
Tania Attié-Bitach, Paul Czernichow, Sylvia Sura Trueba, Joelle Augé, Michel Vekemans, Jélééna Martinovic, Heather C. Etchevers, Michel Polak, Geraldine Mattei
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 90:455-462
Thyroid dysgenesis (TD) is responsible for most cases of congenital hypothyroidism, a condition that affects about one in 4000 newborns. Mutations in PAX8, TITF1, or FOXE1 may account for congenital hypothyroidism in patients with either isolated TD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22234043e02c6fa67a50541f3355757
https://doi.org/10.1210/jc.2004-1358
https://doi.org/10.1210/jc.2004-1358
Autor:
Michel Vekemans, Stanislas Lyonnet, Vincent Elghouzzi, Béatrice Levacher, Christophe Faure, Joelle Augé, Michel Perricaudet, François Guillemot, Karim Benihoud, Arnold Munnich, Jeanne Amiel, Hassan Al Halabiah, Virginie Népote, Loïc de Pontual, Béatrice Laudier, Tania Attié-Bitach, Michel Simonneau, Claude Gaultier, Ha Trang
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2003, 12 (23), pp.3173-3180. ⟨10.1093/hmg/ddg339⟩
Human Molecular Genetics, Oxford University Press (OUP), 2003, 12 (23), pp.3173-3180. ⟨10.1093/hmg/ddg339⟩
Human Molecular Genetics, 2003, 12 (23), pp.3173-3180. ⟨10.1093/hmg/ddg339⟩
Human Molecular Genetics, Oxford University Press (OUP), 2003, 12 (23), pp.3173-3180. ⟨10.1093/hmg/ddg339⟩
International audience; Congenital central hypoventilation syndrome (CCHS, Ondine's curse) is a rare disorder of the chemical control of breathing. It is frequently associated with a broad spectrum of dysautonomic symptoms, suggesting the involvement
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49cca0f948a9aa614139f08bf714f6d3
https://doi.org/10.1093/hmg/ddg339
https://doi.org/10.1093/hmg/ddg339
Autor:
Joelle Augé, Michel Vekemans, Irena Novikova, Sophie Audollent, Férechté Encha-Razavi, Gennady I. Lazjuk, Dominique Esnault, Irena A. Kirillova, Tania Attié-Bitach
Publikováno v:
Teratology. 61:347-354
Background: To estimate the rate of malformations observed during early human development, a series of 38,913 first-trimester abortions were studied. Neural tube defects (NTD) were found in 57 cases. Methods: A histological study of serial sections p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7090c1621c850d37134a33ebf0502520
https://doi.org/10.1002/(sici)1096-9926(200005)61:5<347::aid-tera6>3.0.co
https://doi.org/10.1002/(sici)1096-9926(200005)61:5<347::aid-tera6>3.0.co
Autor:
Tania Attié-Bitach, Sophie Audollent, Michel Vekemans, Anne-Lise Delezoide, Dominique Esnault, Férechté Encha-Razavi, Arnold Munnich, Jeanne Amiel, Anne-Lorraine Tellier, Stanislas Lyonnet, Joelle Augé
Publikováno v:
American Journal of Medical Genetics. 93:85-88
The CHARGE syndrome comprises ocular coloboma, heart malformation, choanal atresia, retarded growth and development, central nervous system malformations, genital hypoplasia, ear abnormalities, or deafness. The cause of the CHARGE syndrome remains un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60d23a857843c90f16727e7be4cffd2a
https://doi.org/10.1002/1096-8628(20000717)93:2<85::aid-ajmg1>3.0.co
https://doi.org/10.1002/1096-8628(20000717)93:2<85::aid-ajmg1>3.0.co
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
Autor:
Joelle Augé, Arnold Munnich, Jeanne Amiel, Tania Attié-Bitach, Michel Vekemans, Vassilis Pachnis, Marion Gérard, Stanislas Lyonnet, Anna Pelet, Anne-Lise Delezoide, Marc Abitbol
Publikováno v:
American Journal of Medical Genetics. 80:481-486
The patterns of RET proto-oncogene expression in mouse, rat, and chicken and the anomalies observed in targeted RET mutants suggest that RET plays a major role in development of mouse enteric nervous system and in kidney organogenesis. Here, we repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd53e824076734a4d8e9f66883ee519b
https://doi.org/10.1002/(sici)1096-8628(19981228)80:5<481::aid-ajmg8>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19981228)80:5<481::aid-ajmg8>3.0.co
Autor:
Yulia O. Korshunova, Lori E. Kotch, Heather C. Etchevers, Juanliang Cai, Geraldine Mattei, Michel Vekemans, David Ash, Joelle Augé, Ethylin Wang Jabs, Tania Attié-Bitach, Michael Lovett, Rose M. Tidwell, David N. Messina, Julia B. Winston
Publikováno v:
Human molecular genetics. 14(7)
Craniofacial abnormalities are one of the most common birth defects in humans, but little is known about the human genes that control these important developmental processes. To identify relevant genes, we analyzed transcription profiles of human pha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52fe274ae166667ddaa45de7706ece0d
https://pubmed.ncbi.nlm.nih.gov/15703188
https://pubmed.ncbi.nlm.nih.gov/15703188
Autor:
Joelle Augé, Lucile Pinson, Tania Attié-Bitach, Germana Meroni, Heather C. Etchevers, Sylvie Odent, M. Le Merrer, Ferechté Razavi, Sophie Audollent, Geraldine Mattei, Stanislas Lyonnet, Michel Vekemans, Nadine Gigarel, Arnold Munnich, Jeanne Amiel, Didier Lacombe
Publikováno v:
Scopus-Elsevier
Opitz syndrome (G/BBB syndrome, MIM145410 and MIM300000) is a midline congenital malformation characterised by hypertelorism, hypospadias and oesophagolaryngotracheal defects leading to swallowing difficulties and a hoarse cry.1 Additional defects in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::102838f6c3f74d71654b624ce302b772
https://pubmed.ncbi.nlm.nih.gov/15121778
https://pubmed.ncbi.nlm.nih.gov/15121778