Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Amale Achaiaa"'
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
Autor:
Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie‐Bitach
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Introduction CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exo
Externí odkaz:
https://doaj.org/article/79a4b3e89846448e9a3d95301ed8bda3
Autor:
Yosra Lajmi, Laurence Loeuillet, Giulia Petrilli, Charles Egloff, Juliette Nectoux, Clémence Molac, Nathalie Roux, Emmanuelle Pannier, Amale Achaiaa, Zaina Ait Arkoub, Sophie Chuon, Aurélie Coussement, Jean Michel Dupont, Valérie Malan, Emmanuel Spaggiari, Ferechte Razavi, Jeanne Amiel, Bettina Bessières, Sarah Grotto, Tania Attié‐Bitach
Publikováno v:
Birth Defects Research. 115:563-571
Autor:
Lucile Boutaud, Benedetta Ruzzenente, Aude Tessier, Olivia Anselem, Emmanuelle Pannier, Sarah Grotto, Naïma Talhi, Daniel Amram, Marjolaine Willems, Constance Wells, Patricia Blanchet, Yuri Musizzano, Clémence Jauny, Patrick Nitschke, Christine Bole-Feysot, Bettina Bessières, Houria Salhi, Amale Achaiaa, Metodi D Metodiev, Ferechte Razavi, Agnès Rötig, Laurence Loeuilllet, Tania Attié-Bitach
Publikováno v:
Brain. 146:1804-1811
Corpus callosum defects are frequent congenital cerebral disorders caused by mutations in more than 300 genes. These include genes implicated in corpus callosum development or function, as well as genes essential for mitochondrial physiology. However
Autor:
Michel Vekemans, Tania Attié-Bitach, Géraldine Van Winckel, Fabienne Giuliano, Amale Achaiaa, Heidi Fodstad, Andrea Superti-Furga, Ahmed El Mouatani, Sandra Whalen, Sophie Kaltenbach, Khaoula Zaafrane-Khachnaoui
Publikováno v:
American Journal of Medical Genetics Part A. 185:3831-3837
Polydactyly is a hallmark of GLI3 pathogenic variants, with Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome being the two main associated clinical presentations. Homozygous GLI3 variants are rare instances in the literature, and mend
Autor:
Lyse Ruaud, Nathalie Roux, Lucile Boutaud, Bettina Bessières, Faustine Ageorges, Amale Achaiaa, Christine Bole, Patrick Nitschke, Cécile Masson, Michel Vekemans, Alain Verloes, Tania Attie‐Bitach
Publikováno v:
Birth defects researchREFERENCES. 114(10)
The THOC6 protein is a component of the THO complex. It is involved in mRNA transcription, processing and nuclear export. Interestingly molecular biallelic loss-of-function variants of the THOC6 gene were identified in the Beaulieu-Boycott-Innes synd
Autor:
Cécile Masson, Arnaud Molin, Clarisse Billon, Agnès Liard, Lucile Boutaud, Sabine Sigaudy, Sophie Thomas, Eglantine Magnin, Radia Fritih, Valérie Layet, Maryse Bonnière, Yves Ville, Alix Clemenson, Alain Diguet, Philippe Roth, Coralie Dauge, Sophie Patrier, John Rendu, Julia Tantau, Bettina Bessières, Alice Goldenberg, Leila Hakkakian, Céline Poirsier, Tania Attié-Bitach, Ferechté Razavi, Clémence Fleury, Eric Verspyck, Nadia Elkhartoufi, Maude Grelet, Amale Achaiaa, Fabienne Prieur, Christine Bole-Feysot, Aude Tessier
Publikováno v:
Clinical Genetics. 98:261-273
Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a severe congenital visceral myopathy characterized by an abdominal distension due to a large non-obstructed urinary bladder, a microcolon and intestinal hypo- or aperistalsis. Most
Autor:
Amale Achaiaa, Jean Marc Garcier, Claude Darcha, Denis Gallot, Patrick Nitschke, Tania Attié-Bitach, Cécile Fourrage, Fanny Laffargue, Carole Goumy, Lucile Boutaud, Claire Dauphin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac292b81d3131b8a0a3e81745268e638
https://doi.org/10.1111/cge.13996/v2/response1
https://doi.org/10.1111/cge.13996/v2/response1
Autor:
Tania Attié-Bitach, Claude Darcha, Claire Dauphin, Patrick Nitschké, Denis Gallot, Jean Marc Garcier, Cécile Fourrage, Fanny Laffargue, Amale Achaiaa, Lucile Boutaud, Carole Goumy
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 100 (3), pp.348-349. ⟨10.1111/cge.13996⟩
Clinical Genetics, Wiley, 2021, 100 (3), pp.348-349. ⟨10.1111/cge.13996⟩
International audience
Autor:
Aude Tessier, Férechté Encha-Razavi, Judite de Oliveira, Christel Thauvin-Robinet, Marie-Paule Beaujard, Valérie Malan, Philippe Roth, Bettina Bessières, Julie Steffann, Ange-Line Bruel, Laurence Faivre, Tania Attié-Bitach, Lucile Boutaud, Amale Achaiaa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9047e0d7fbe060c2f0e8d74c323f6cd
https://doi.org/10.1111/cge.13840/v2/response1
https://doi.org/10.1111/cge.13840/v2/response1
Autor:
Philippe Roth, Ange-Line Bruel, Aude Tessier, Tania Attié-Bitach, Laurence Faivre, Férechté Encha-Razavi, Julie Steffann, Christel Thauvin-Robinet, Judite de Oliveira, Amale Achaiaa, Lucile Boutaud, Marie-Paule Beaujard, Valérie Malan, Bettina Bessières
Publikováno v:
Clinical geneticsREFERENCES. 98(6)
We report two fetal cases carrying a de novo MID1 mutation and presenting with severe hydrothorax, suggesting the expansion of the phenotype of Opitz GBBB syndrome.