Zobrazeno 1 - 10
of 12
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:
Loubna Hara, Najim Lahrouchi, Fatima Zohra Radi, Marielle Alders, Najlae Adadi, Abdelaziz Sefiani, Siham Chafai Elalaoui, Jamila Zarzur, Ilham Ratbi, Connie R. Bezzina
Publikováno v:
Anatolian Journal of Cardiology
Anatolian Journal of Cardiology, 20(1), 65-68. Kare Publishing
Anatolian Journal of Cardiology, 20(1), 65-68. Kare Publishing
Autor:
Siham Chafai Elalaoui, Fatima Zahra Laarabi, Imane Cherkaoui Jaouad, Abdelaziz Sefiani, Stanislas Lyonnet, Alexandra Henrion-Caude
Publikováno v:
Molecular Syndromology. 6:77-82
Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder which is characterized by bone metaphysis anomalies with manifestations that include short stature, defective cellular immunity, and predisposition to several cancers. It is caused by
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:
Lamia Boualla, Patrick Cossette, Patrick A. Dion, Bouchra Ouled Amar Bencheikh, Jaber Lyahyai, Guy A. Rouleau, Alexandre Dionne-Laporte, Abdelaziz Sefiani, Maria Mansouri, Siham Chafai Elalaoui, Dan Spiegelman
Publikováno v:
BMC Pediatrics
BMC Pediatrics, Vol 18, Iss 1, Pp 1-4 (2018)
BMC Pediatrics, Vol 18, Iss 1, Pp 1-4 (2018)
Background Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Epilepsies have a highly heterogeneous background with a strong genetic contr
Autor:
Matthias Chalon, Tania Attié-Bitach, Maria Mansouri, Siham Chafai-Elalaoui, Yamna Kriouele, Nadia Elkhartoufi, Lekbir Baala, Abdelaziz Sefiani
Publikováno v:
Journal of Medical Case Reports
Introduction Joubert syndrome is a rare congenital disorder characterized by brain malformation, developmental delay with hypotonia, ocular motor apraxia, and breathing abnormalities. Joubert syndrome is a genetically highly heterogeneous ciliopathy
Autor:
Mercedes Pineda, M Szlago, A Chabás, Isaac Canals, IC Jaouad, Maria Josep Coll, Lluïsa Vilageliu, Siham Chafai Elalaoui, Daniel Grinberg, Verónica Delgadillo, Abdelaziz Sefiani
Publikováno v:
Clinical Genetics. 80:367-374
The Sanfilippo syndrome type C [mucopolysaccharidosis IIIC (MPS IIIC)] is caused by mutations in the HGSNAT gene, encoding an enzyme involved in heparan sulphate degradation. We report the first molecular study on several Spanish Sanfilippo syndrome
Autor:
Fatima Zahra Laarabi, Gen Nishimura, Siham Chafai Elalaoui, Nidal Alaoui Mrani, Maria Mansouri, Abdelaziz Sefiani
Publikováno v:
American journal of medical genetics. Part A. 170(9)
Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH). CHH is a multi-system disorder
Autor:
Benoit Arveiler, Guenaelle Lancelot, Didier Lacombe, Patricia Fergelot, Siham Chafai Elalaoui, Abdelaziz Sefiani, Mariam Tajir
Publikováno v:
Gene. 518(2)
Rubinstein-Taybi syndrome is an autosomal dominant disorder with multiple congenital anomalies and genetic heterogeneity. Clinical manifestations include mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and ch