Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Siham Chafai Elalaoui"'
Autor:
Benoit Arveiler, Didier Lacombe, Ilham Ratbi, Siham Chafai Elalaoui, Mariam Tajir, Julien Van-Gils, Wiam Smaili, Patricia Fergelot, Abdelaziz Sefiani
Publikováno v:
African Health Sciences
African Health Sciences, Makerere University Medical School, 2021, 21 (2), pp.960-967. ⟨10.4314/ahs.v21i2.58⟩
African Health Sciences, Makerere University Medical School, 2021, 21 (2), pp.960-967. ⟨10.4314/ahs.v21i2.58⟩
Background: Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aa4c8b81bedaf06ab98e254aae5c9cb
https://hal.archives-ouvertes.fr/hal-03403752
https://hal.archives-ouvertes.fr/hal-03403752
Autor:
Aziza Lebbar, Sandra Chantot-Bastaraud, Catherine Yardin, Ghislaine Plessis, Patrick Edery, Damien Sanlaville, Laurence Faivre, Aline Receveur, Anne Claude Tabet, Solveig Heide, Laila El Khattabi, Patrick Callier, Christine Francannet, Alice Goldenberg, Eva Pipiras, Michèle Mathieu-Dramard, Chantal Missirian, Odile Boute-Benejean, Cécile Laroche, C. Francois-Fiquet, Pascal Garnier, Alice Masurel-Paulet, Nathalie Marle, Marion Gérard, Jean Michel Dupont, Alexandra Afenjar, Martine Doco Fenzy, Anne Moncla, Marie Pierre Cordier, Brigitte Benzacken, Jean-Hubert Caberg, Gaetan Lesca, Loïc de Pontual, Christine Ioos, Massimiliano Rossi, Nathalie Le Meur, Andrée Delahaye-Duriez, Joris Andrieux, Caroline Vincent-Delorme, Siham Chafai Elalaoui, Lesley Suiro, Philippe Vago, Anne-Laure Mosca-Boidron, Abdelhafid Natiq
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
BackgroundThe clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were
Autor:
Martine Doco-Fenzy, Monique Elmaleh-Bergès, Berten Ceulemans, Sandrine Passemard, David Geneviève, Anita Rauch, Daniel Amram, Anais Ernault, Bernd Wollnick, Christine Francannet, Alain Verloes, Abdelaziz Sefiani, Pascaline Letard, Julie Désir, Marc Abramowicz, Brigitte Benzacken, Clothilde Rivier-Ringenbach, Toni Kasole Lubala, Yusuf Tunca, Vincent El Ghouzzi, Mathilde Nizon, Laurence Faivre, Marion Gérard, Koenraad Devriendt, Nathalie Pouvreau, Sophie Guilmin Crepon, Massimiliano Rossi, Hélène Maurey, C. Geoffrey Woods, Julia Metreau, Séverine Drunat, Michèle Mathieu-Dramard, Yves Sznajer, Cyril Gitiaux, Tiffany Busa, Geneviève Pierquin, Corinne Alberti, Sabine Sigaudy, Elise Schaefer, Stéphanie Arpin, Sébastien Lebon, Marta Bertoli, Pierre Gressens, Sophie Julia, Siham Chafai Elalaoui, Sarah Duerinckx, Sanaa Nasserereddine, Yoann Vial
Publikováno v:
Human Mutation
Human Mutation, 2018, 39 (3), pp.319-332. ⟨10.1002/humu.23381⟩
Human mutation
Human Mutation, Wiley, 2018, 39 (3), pp.319-332. ⟨10.1002/humu.23381⟩
Human Mutation, Vol. 39, no. 3, p. 319-332 (2018)
Human Mutation, Wiley, 2018, 39 (3), pp.319-332. 〈10.1002/humu.23381〉
Human Mutation, 2018, 39 (3), pp.319-332. ⟨10.1002/humu.23381⟩
Human mutation
Human Mutation, Wiley, 2018, 39 (3), pp.319-332. ⟨10.1002/humu.23381⟩
Human Mutation, Vol. 39, no. 3, p. 319-332 (2018)
Human Mutation, Wiley, 2018, 39 (3), pp.319-332. 〈10.1002/humu.23381〉
Autosomal recessive microcephaly or MicroCephaly Primary Hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standa
Autor:
Duangrurdee Wattanasirichaigoon, Frédérique Magdinier, Axel M. Hillmer, Mung Kei Kong, Sabine Sigaudy, Myriam Oufadem, Hicham Filali, Hülya Kayserili, Christopher T. Gordon, Denise Williams, Peter Nürnberg, Carine Bonnard, Stanislas Lyonnet, Camille Dion, Siham Chafai Elalaoui, Jeanne Amiel, Audrey S.M. Teo, Nobuhiko Okamoto, Bruno Reversade, Asif Javed, Dieter Meschede, Alex Magee, Abdelaziz Sefiani, Rachel E A Irving, Alexandra D. Gurzau, James M. Murphy, Nicola K. Ragge, Bernd Wollnik, Gökhan Tunçbilek, Koh-ichiro Yoshiura, Chalermpong Chatdokmaiprai, Tamara Beck, Hallvard Reigstad, Christine Bole-Feysot, Kelan Chen, Nicolas Lévy, Michael L. Cunningham, Nadine Rosin, Ruth McGowan, Holger Thiele, Janine Altmüller, Vinod Varghese, Nawfal Fejjal, Patrick Nitschké, Ilham Ratbi, Marnie E. Blewitt, Gökhan Yigit, Wolfgang Mühlbauer, Meriem Fikri, Shifeng Xue, S Faisal Ahmed
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. 〈10.1038/ng.3765〉
Nature genetics, 49(2), 249-255. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. 〈10.1038/ng.3765〉
Nature genetics, 49(2), 249-255. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
International audience; Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5d4299acf7797337cbb50e49b05342
https://hal.archives-ouvertes.fr/hal-01617529/document
https://hal.archives-ouvertes.fr/hal-01617529/document
Autor:
Céline Bonnet, Abdelhafid Natiq, Saaid Amzazi, Abdelaziz Sefiani, Siham Chafai Elalaoui, Philippe Jonveaux, Sevrine Miesch
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, BioMed Central, 2014, 7, pp.40. ⟨10.1186/1755-8166-7-40⟩
Molecular Cytogenetics, BioMed Central, 2014, 7, pp.40. ⟨10.1186/1755-8166-7-40⟩
International audience; Background: We report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before.Result: Array
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b32403157f26dc39610837f453732fc7
https://hal.univ-lorraine.fr/hal-01687084/file/document(1).pdf
https://hal.univ-lorraine.fr/hal-01687084/file/document(1).pdf