Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Siham Chafai Elalaoui"'
Autor:
Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani, Jaber Lyahyai
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-17 (2023)
Abstract Background Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders resulting in prenatal or early-onset hypotonia, muscle weakness, myogenic pattern,
Externí odkaz:
https://doaj.org/article/0aac02b2513d4411aa5311dea64c94a8
Autor:
Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio, Gianvincenzo Zuccotti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia,
Externí odkaz:
https://doaj.org/article/31e8b21d16564a75b2b20ef07336fb0c
Autor:
Siham Chafai Elalaoui, Nawfal Fejjal3, Yun Li, Holger Thiele, Janine Altmüller, Soukaina Guaoua, Peter Nürnberg, Bernd Wollnik, Abdelaziz Sefiani, Ilham Ratbi
Publikováno v:
The Pan African Medical Journal, Vol 39, Iss 21 (2021)
Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same
Externí odkaz:
https://doaj.org/article/627971715e194e8eb539a7c87d852bb0
Autor:
Fatima-Zahra Laarabi, Ilham Ratbi, Siham Chafai Elalaoui, Loubna Mezzouar, Yassamine Doubaj, Laila Bouguenouch, Karim Ouldim, Noureddine Benjaafar, Abdelaziz Sefiani
Publikováno v:
BMC Research Notes, Vol 10, Iss 1, Pp 1-5 (2017)
Abstract Background To date, a limited number of BRCA1/2 germline mutations have been reported in hereditary breast and/or ovarian cancer in the Moroccan population. Less than 20 different mutations of these two genes have been identified in Moroccan
Externí odkaz:
https://doaj.org/article/7a13207686c44ca9826f149c3399b289
Autor:
Ilham Ratbi, Siham Chafai Elalaoui, Adela Escudero, Yamina Kriouile, Jesus Molano, Abdelaziz Sefiani
Publikováno v:
Annals of Indian Academy of Neurology, Vol 14, Iss 4, Pp 307-309 (2011)
Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or -recessive, known as Thomsen and Becker diseases, respectively. Thes
Externí odkaz:
https://doaj.org/article/2c03dd69cb4946a4a6d63b705dedfeda
Autor:
Mariam Tajir, Patricia Fergelot, Gwenaelle Lancelot, Benoit Arveiler, Siham Chafai Elalaoui, Didier Lacombe, Abdelaziz Sefiani
Publikováno v:
The Pan African Medical Journal, Vol 12, Iss 64 (2012)
Le syndrome de Costello appelé également syndrome Facio-cutanéo-squelettique est une anomalie rare du développement d'origine génétique de transmission autosomique dominante. Sa prévalence est inconnue mais environ 250 cas ont été rapportés
Externí odkaz:
https://doaj.org/article/c479b589ecf5483282d17966af3602a5
Autor:
Friederike Petzold, Katy Billot, Xiaoyi Chen, Charline Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Cécile Jeanpierre, Kalman Tory, Olivia Boyer, Anita Burgun, Aude Servais, Remi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié-Bitach, Valerie Comier-Daire, Jean-Michel Rozet, Yaacov Frishberg, Brigitte Llanas, Michel Broyer, Nabil Mohsin, Marie-Alice Macher, Nicole Philip, Véronique Baudouin, Damian Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, Claude Guyot, Pierre Bataille, Mariet Elting, Georges Deschenes, Andrea Gropman, Geneviève Guest, Marie-France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, Albert Bensman, Anne-Marie Guerrot, Bertrand Knebelmann, Ilmay Bilge, Danièle Bruno, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Eric Bieth, Sophie Gie, Judith Goodship, Gwenaelle Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane Benoît, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, Michele Kessler, Theresa Kwon, Anine Lahoche, Audrey Laurent, Anne-Laure Leclerc, David Milford, Thomas Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadikoglu, Christine Barnerias, Anne Barthelemy, Lina Basel, Nader Bassilios, Hedi Ben Maiz, Fatma Ben Moussa, Faïza Benmati, Romain Berthaud, Aurélia Bertholet, Dominique Blanchier, Jean Jacques Boffa, Karim Bouchireb, Ihab Bouhabel, Zakaria Boukerroucha, Guylhène Bourdat-Michel, Odile Boute, Karine Brochard, Roseline Caumes, Siham Chafai Elalaoui, Bernard Chamontin, Marie Caroline Chastang, Christine Pietrement, Christine Richer, Christophe Legendre, Karin Dahan, Fabienne Dalla-Vale, Damien Thibaudin, Maxime Dauvergne, Salandre Davourie, Martin Debeukelaer, Jean Daniel Delbet, Constantinos Deltas, Denis Graber, Nadège Devillars, Boucar Diouf, Martine Doco Fenzy, Jean-Luc André, Dominique Joly, Alan Fryer, Laetitia Albano, Elisabeth Cassuto, Aline Pincon, Ana Medeira, Annabelle Chaussenot, Anne Mensire-Marinier, Francois Bouissou, Stephane Decramer, Armand Bottani, Aurélie Hummel, Alexandre Karras, Avi Katz, Christine Azema, Bénédicte Janbon, Bernard Roussel, Claude Bonniol, Christiophe Mariat, Gérard Champion, Deborah Chantreuil, Nicolas Chassaing, Christiane Mousson, Christine Baudeau, Delphine Hafdar Cuntz, Cyril Mignot, Laurene Dehoux, Didier Lacombe, Thierry Hannedouche, Elodie Mérieau, Emmanuelle Charlin, Eric Gauthier, Florent Plasse, Stanislas Faguer, Fanny Lebas, Florence Demurger, Francesco Emma, François Cartault, Geneviève Dumont, Nathalie Godefroid, Vincent Guigonis, Sophie Hillaire, Jaap Groothoff, Jan Dudley, Noémie Jourde-Chiche, Khalil El Karoui, Saoussen Krid, Krier Coudert, Larbi Bencheick, Laurent Yver, Marie-Pierre Lavocat, Le Monies De Sagazan, Valerie Leroy, Lise Thibaudin, Liz Ingulli, Lorraine Gwanmesia, Lydie Burglen, Marie-Hélène Saïd-Menthon, Marta Carrera, Mathilde Nizon, Catherine Melander, Michel Foulard, Monique Blayo, Jacques Prinseau, Nadine Jay, Nathalie Brun, Nicolas Camille, François Nobili, Olivier Devuyst, Ouafa Ben Brahim, Paloma Parvex, Laurence Perrin Sabourin, Philippe Blanc, Philippe Vanhille, Pierre Galichon, Sophie Pierrepont, Vincent Planquois, Gwenaelle Poussard, Claire Pouteil Noble, Radia Allal, Raphaelle Bernard, Raynaud Mounet, Rémi Cahen, Renaud Touraine, Claire Rigothier, Amélie Ryckewaert, Mathieu Sacquepee, Salima El Chehadeh, Charlotte Samaille, Shuman Haq, Ari Simckes, Stéphanie Lanoiselée, Stephanie Tellier, Jean-François Subra, Sylvie Cloarec, Julie Tenenbam, Thomas Lamy, Valérie Drouin Garraud, Huguette Valette, Vanina Meyssonnier, Rosa Vargas-Poussou, Yves Snajer, Sandrine Durault, Emmanuelle Plaisier, Etienne Berard, Fadi Fakhouri, Ferielle Louillet, Paul Finielz, Michel Fischbach, Bernard Foliguet, Hélène Francois-Pradier, Florentine Garaix, Marion Gerard, Gianfranco Rizzoni, Brigitte Gilbert, Denis Glotz, Astrid Godron Dubrasquet, Jean-Pierre Grünfeld, Guillaume Bollee, Michelle Hall, Sverker Hansson, Damien Haye, Hélène Taffin, Friedhelm Hildebrandt, Maryvonne Hourmand, Hümya Kayserili, Ivan Tack, Marie Line Jacquemont, Jennifer Fabre-Teste, Cliff Kashtan, Kkoen Van Hoeck, Alexandre Klein, Yannick Knefati, Nine Knoers, Martin Konrad, Alain Lachaux, Isabelle Landru, Gilbert Landthaler, Philippe Lang, Patrick Le Pogamp, Tristan Legris, Catherine Didailler, Thierry Lobbedez, Loïc de Parscau, Lucile Pinson, Hervé Maheut, Marc Duval-Arnould, Marlène Rio, Marie-Claire Gubler, Pierre Merville, Guillaume Mestrallet, Maite Meunier, Karine Moreau, Jérôme Harambat, Graeme Morgan, Georges Mourad, Niksic Stuber, Odile Boespflug-Tanguy, Olivier Dunand, Olivier Niel, Nacera Ouali, Paolo Malvezzi, Pauline Abou Jaoude, Solenne Pelletier, Julie Peltier, M.B. Petersen, Philippe Michel, Philippe Rémy, Jean-Baptiste Philit, Valérie Pichault, Thierry Billette de Villemeur, Bernard Boudailliez, Bruno Leheup, Claire Dossier, Djamal-Dine Djeddi, Yves Berland, Bruno Hurault de Ligny, Susan Rigden, Christophe Robino, Annick Rossi, Sabine Sarnacki, Messaoud Saidani, Albane Brodin Sartorius, Elise Schäfer, Sztriha Laszlo, Marie-Christine Thouret, Angélique Thuillier-Lecouf, Howard Trachtman, Claire Trivin, Michel Tsimaratos, Rita Van Damme-Lombaerts, Marjolaine Willems, Michel Youssef, Ariane Zaloszyc, Alexis Zawodnik, Marie-Julia Ziliotis
Publikováno v:
INSERM–Necker Hospital NPH collaborative group 2023, ' The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies ', Kidney International . https://doi.org/10.1016/j.kint.2023.05.007
Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of pa
Autor:
Zhour, El Amrani, Siham Chafai, Elalaoui, Wafae, Jdioui, Aziza, Sbiti, Ilham, Ratbi, Thomas, Liehr, Abdelaziz, Sefiani, Abdelhafid, Natiq
Publikováno v:
Ophthalmic Genetics. 43:689-692
Retinoblastoma (RB) is the most common malignant intraocular tumor in children; it affects their eyes often even prenatally. RB may be sporadic or familial, due to germinal mutation in RB1 gene or by abnormal chromosomal abnormalities involving RB1 g
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:
Nadia Elkassimi, Aziza Sbiti, Youssef El Kadiri, Siham Chafai Elalaoui, Abdelali Zrhidri, Yassamine Doubaj, Jaber Lyahyai, Maria El Kababri, Laila Hessissen, Abdelaziz Sefiani
Publikováno v:
Pan African Medical Journal; Vol. 39 No. 1 (2021)
The Pan African Medical Journal
The Pan African Medical Journal
Introduction:Fanconi anemia (FA) is a rare inherited hematological disease due to a defect in the DNA repair pathway resulting in congenital abnormalities and high susceptibility to develop cancers. The cytogenetic analysis using alkylating agents is