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abdelaziz sefiani

Research Profile

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Morocco

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Publications

TOP 3
Mariam Tajir; Benoit Arveiler; Siham Chafai Elalaoui; Patricia Fergelot; Didier Lacombe; Guenaelle Lancelot; abdelaziz sefiani
Germline mosaicism in Rubinstein-Taybi syndrome.
Yassamine Doubaj; Siham Chafai Elalaoui; Nicolas Lévy; Claire Laure Navarro; Mariam Tajir; Esteves-Vieira Vera; Annachiara De Sandre-Giovannoli; abdelaziz sefiani
An inherited LMNA gene mutation in atypical Progeria syndrome.
Mariam Tajir; Jean Baptiste Arnoux; Audrey Boutron; Pascale de Lonlay; Siham Chafai Elalaoui; abdelaziz sefiani; Michèle Brivet
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

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All Publications

2013: Mariam Tajir; Benoit Arveiler; Siham Chafai Elalaoui; Patricia Fergelot; Didier Lacombe; Guenaelle Lancelot; abdelaziz sefiani
Germline mosaicism in Rubinstein-Taybi syndrome.
Gene 2013;518(2):476-8.
2012: Yassamine Doubaj; Siham Chafai Elalaoui; Nicolas Lévy; Claire Laure Navarro; Mariam Tajir; Esteves-Vieira Vera; Annachiara De Sandre-Giovannoli; abdelaziz sefiani
An inherited LMNA gene mutation in atypical Progeria syndrome.
American journal of medical genetics. Part A 2012;158A(11):2881-7.
2012: Mariam Tajir; Jean Baptiste Arnoux; Audrey Boutron; Pascale de Lonlay; Siham Chafai Elalaoui; abdelaziz sefiani; Michèle Brivet
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
European journal of medical genetics 2012;55(10):535-40.
2012: Afaf Lamzouri; Ilham Ratbi; Amina Barkat; Fatima Z Laarabi; abdelaziz sefiani
Low prevalence of p.G352fsdelG mutation in phenylketonuria patients from Morocco.
Genetic testing and molecular biomarkers 2012;16(8):996-8.
2012: Mariam Tajir; Naima Amrani; Amina Barkat; Mustapha Elmachad; Nawal Kabbaj; Fatima Zahra Laarabi; abdelaziz sefiani
Frequency of IL28B rs12979860 single-nucleotide polymorphism alleles in newborn infants and in patients with chronic hepatitis C in Morocco.
Genetic testing and molecular biomarkers 2012;16(8):981-3.
2012: nisrine aboussair; Souad Cherkaoui Dequaqui; Fatiha Elkerch; Imane Cherkaoui Jaouad; Abdelhafid Natiq; Aziza Sbiti; Benbouchta Yahya; abdelaziz sefiani
Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in Morocco.
Genetic testing and molecular biomarkers 2012;16(6):569-73.
2012: Mustapha Elmachad; Fatima Zahra Laarabi; Zouhir Oualim; Amina Barkat; Driss Elkabbaj; Fatiha Elkerch; abdelaziz sefiani
Frequencies of CYP3A5*1/*3 variants in a Moroccan population and effect on tacrolimus daily dose requirements in renal transplant patients.
Genetic testing and molecular biomarkers 2012;16(6):644-7.
2012: I Hama; G Kharrasse; H Ouazzani; Ilham Ratbi; S Reggoug; F Elkerch; I Errabih; abdelaziz sefiani
Non-association of Crohn's disease with NOD2 gene variants in Moroccan patients.
Gene 2012;499(1):121-3.
2012: Benoît Funalot; E Tessa Hedley-Whyte; Emmanuel Khalifa; Mathieu Laurichesse; Corinne Magdelaine; Adama Ouedraogo; Laurence Richard; abdelaziz sefiani; Franck G Sturtz; Piotr Topilko; Estelle Touraille; J Andoni Urtizberea; Maria Antonia Ramos Arroyo; Federico Garcia Bragado; Patrick Charnay; Jasmine Chauzeix; Didier Cros; Maria E Yoldi; Jean-Michel Vallat
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.
Annals of neurology 2012;71(5):719-23.
2012: Yassamine Doubaj; Fatima-Zahra Laarabi; Amina Barkat; Siham Chafai Elalaoui; abdelaziz sefiani
Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.
The Journal of dermatology 2012;39(4):382-4.
2012: Latifa Belmahi; Imane Jaouad Cherkaoui; Iman Hama; abdelaziz sefiani
MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.
Rheumatology international 2012;32(4):981-4.
2012: F Z Laarabi; Karim Ouldim; S Baert-Desurmont; I Cherkaoui Jaouad; T Frebourg; A Ibrahimi; N Kanouni; abdelaziz sefiani
The first mutations in the MYH gene reported in Moroccan colon cancer patients.
Gene 2012;496(1):55-8.
2012: Jaber Lyahyai; Ilham Ratbi; Aziza Sbiti; Amina Barkat; abdelaziz sefiani
Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns.
Genetic testing and molecular biomarkers 2012;16(3):215-8.
2012: Afaf Lamzouri; Abdelhafid Natiq; Mohamed Sendid; Mariam Tajir; abdelaziz sefiani
[Prenatal diagnosis of trisomy 21 by fluorescence in situ hybridization (FISH): about the first tests in Morocco].
The Pan African medical journal 2012;13():38.
2012: Mariam Tajir; Benoit Arveiler; Siham Chafai Elalaoui; Patricia Fergelot; Didier Lacombe; Gwenaelle Lancelot; abdelaziz sefiani
[Costello syndrome: report of a case].
The Pan African medical journal 2012;12():64.
2011: A Sbiti; Y Kriouile; Ilham Ratbi; abdelaziz sefiani
[Spinal muscular atrophy: frequent cause of congenital hypotonia in Morocco].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2011;18(12):1261-4.
2011: Ilham Ratbi; Siham Chafai Elalaoui; Adela Escudero; Yamina Kriouile; Jesus Molano; abdelaziz sefiani
Moroccan consanguineous family with Becker myotonia and review.
Annals of Indian Academy of Neurology 2011;14(4):307-9.
2011: F El Kerch; F Z Laarabi; A Lamzouri; B Ben Amar; M Zahi; abdelaziz sefiani
[Confirmation of the high prevalence in Morocco of the homozygous mutation c.144delC in the aurora kinase C gene (AURKC) in the teratozoospermia with large-headed spermatozoa].
Journal de gynécologie, obstétrique et biologie de la reproduction 2011;40(4):329-33.
2011: Christoph Gasche; Walter Reinisch; Wolf-Dietrich Huber; Esther Leshinsky-Silver; Arie Levine; Heitham Abdul-Baki; Ala I Sharara; Yousef Ajlouni; abdelaziz sefiani
IL-10RA truncation mutations and Semite populations.
Inflammatory bowel diseases 2011;17(6):1438.
2011: F Z Laarabi; I Cherkaoui Jaouad; A Benazzouz; D Squalli; abdelaziz sefiani
Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco.
Annals of human biology 2011;38(3):360-3.
2011: Y Doubaj; A Lamzouri; S-C Elalaoui; F-Z Laarabi; abdelaziz sefiani
[Three cases of Hutchinson-Gilford progeria syndrome].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2011;18(2):156-9.
2010: Siham Chafai Elalaoui; Lilia Kraoua; Céline Liger; Ilham Ratbi; Hélène Cavé; abdelaziz sefiani
Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.
American journal of medical genetics. Part A 2010;152A(11):2850-3.
2010: Ilham Ratbi; Siham Chafai Elalaoui; Marie-Pierre Moizard; Martine Raynaud; abdelaziz sefiani
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.
The Turkish journal of pediatrics 2010;52(5):525-8.
2010: Siham Chafai Elalaoui; Ilham Ratbi; Mohamed Malih; Mohamed Bounasse; abdelaziz sefiani
Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report.
International journal of pediatric otorhinolaryngology 2010;74(9):1092-4.
2010: S Chafai Elalaoui; I Cherkaoui Jaouad; Laila Rifai; abdelaziz sefiani
Autosomal dominant microtia.
European journal of medical genetics 2010;53(2):100-3.
2010: I C Jaouad; S Cherkaoui Deqaqi; A Sbiti; A Natiq; F Elkerch; abdelaziz sefiani
Cytogenetic and epidemiological profiles of Down syndrome in a Moroccan population: a report of 852 cases.
Singapore medical journal 2010;51(2):133-6.
2010: nisrine aboussair; A Berahou; I Perrault; S Chafai Elalaoui; A Megzari; Jean-Michel Rozet; Josseline Kaplan; abdelaziz sefiani
[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].
Journal français d'ophtalmologie 2010;33(2):117.e1-5.
2010: Ilham Ratbi; Renata Borcciadi; Asmaa Regragui; Roberto Ravazzolo; abdelaziz sefiani
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.
Clinical rheumatology 2010;29(1):119-21.
2009: Jan Hellemans; Marleen Simon; Annelies Dheedene; Yasemin Alanay; Ercan Mihci; Laila Rifai; abdelaziz sefiani; Yolande van Bever; Morteza Meradji; andrea superti-furga; Geert R Mortier
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
American journal of human genetics 2009;85(6):916-22.
2009: I Cherkaoui Jaouad; S Chafaï Elalaoui; A Sbiti; F Elkerh; L Belmahi; abdelaziz sefiani
Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders.
Journal of biosocial science 2009;41(5):575-81.
2009: Klaus Dieterich; Raoudha Zouari; Radu Harbuz; François Vialard; Delphine Martinez; Hanane Bellayou; Nadia Prisant; Abdelali Zoghmar; Marie-Roberte Guichaoua; Isabelle Koscinski; Mahmoud Kharouf; mehrdad noruzinia; Sellama Nadifi; abdelaziz sefiani; Jacqueline Lornage; Mohamed Zahi; Stéphane Viville; Bernard Sèle; Pierre-Simon Jouk; Marie-Christine Jacob; Denise Escalier; Yorgos Nikas; Sylviane Hennebicq; Joël Lunardi; Pierre F Ray
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.
Human molecular genetics 2009;18(7):1301-9.
2008: Karim Ouldim; Aziza Sbiti; Abdelbafid Natiq; Fatiha El-Kerch; Souad Cherkaoui; abdelaziz sefiani
Unexpected fertility and paternal UPD 22.
Fertility and sterility 2008;90(5):2013.e13-5.
2008: Ilham Ratbi; Alae-Eddine Gati; abdelaziz sefiani
The Moroccan human mutation database.
Indian journal of human genetics 2008;14(3):106-7.
2008: I Cherkaoui Jaouad; K Ouldim; S Ali Ou Alla; Y Kriouile; A Villa; abdelaziz sefiani
Omenn syndrome with mutation in RAG1 gene.
Indian journal of pediatrics 2008;75(9):944-6.
2008: Ilham Ratbi; Emmanuelle Génin; Marie Legendre; Annick Le Floch; Catherine Costa; Souad Cherkaoui-Deqqaqi; Michel Goossens; abdelaziz sefiani; Emmanuelle Girodon
Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2008;7(5):440-3.
2007: Ilham Ratbi; Moal Florence Dastot-Le; Chafai Siham Elalaoui; Irina Giurgea; Michel Goossens; abdelaziz sefiani
Mowat-Wilson syndrome in a Moroccan consanguineous family.
Indian journal of human genetics 2007;13(3):122-4.
2007: E Bal; Lekbir Baala; C Cluzeau; F El Kerch; Karim Ouldim; Smaïl Hadj-Rabia; Christine Bodemer; Arnold Munnich; Gilles Courtois; abdelaziz sefiani; Asma Smahi
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
Human mutation 2007;28(7):703-9.
2007: Ilham Ratbi; S Hajji; Karim Ouldim; nisrine aboussair; D Feldmann; abdelaziz sefiani
[The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2007;14(5):450-3.
2007: Lekbir Baala; Sylvain Briault; Heather C Etchevers; Frédéric Laumonnier; Abdelhafid Natiq; Jeanne Amiel; Nathalie Boddaert; Capucine Picard; Aziza Sbiti; Abdellah Asermouh; Tania Attié-Bitach; Férechté Encha-Razavi; Arnold Munnich; abdelaziz sefiani; Stanislas LYONNET
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
Nature genetics 2007;39(4):454-6.
2007: Laila Rifai; Wajih Maazouzi; abdelaziz sefiani
Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa.
Cardiology in the young 2007;17(1):107-9.
2007: Karim Ouldim; Abdelhafid Natiq; Philippe Jonveaux; abdelaziz sefiani
Tetrasomy 15q11-q13 diagnosed by FISH in a patient with autistic disorder.
Journal of biomedicine & biotechnology 2007;2007(3):61538.
2006: Latifa Belmahi; abdelaziz sefiani; Corinne Fouveau; JOSUE FEINGOLD; Marc Delpech; Gilles Grateau; Catherine Dodé
Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.
Comptes rendus biologies 2006;329(2):71-4.
2005: Hanen Belguith; S Hajji; N Salem; Ilhem Charfeddine; Imed Lahmar; M B Amor; Karim Ouldim; Eliane Chouery; Nabil Driss; Mohamed Drira; André Mégarbané; Ahmed Rebai; abdelaziz sefiani; Saber Masmoudi; Hammadi Ayadi
Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation.
Clinical genetics 2005;68(2):188-9.
2002: Christel Thauvin-Robinet; Vincent El Ghouzzi; Wassim Chemaitilly; Nathalie Dagoneau; Odile Boute; Géraldine Viot; André Mégarbané; abdelaziz sefiani; Arnold Munnich; Martine Le Merrer; Valérie Cormier-Daire
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
Journal of medical genetics 2002;39(10):714-7.
2002: Lekbir Baala; Smaïl Hadj-Rabia; Dominique Hamel-Teillac; michelle hadchouel; Catherine Prost; Suzanne M Leal; Emmanuel Jacquemin; abdelaziz sefiani; Yves de Prost; Gilles Courtois; Arnold Munnich; Stanislas LYONNET; Pierre VABRES
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.
The Journal of investigative dermatology 2002;119(1):70-6.
2000: Ramzi Zemni; Thierry Bienvenu; Marie-Claude Vinet; abdelaziz sefiani; Alain Carrié; Pierre Billuart; N McDonell; Philippe Couvert; Fiona Francis; Philippe Chafey; Fabien Fauchereau; Gaëlle Friocourt; Vincent des Portes; A Cardona; Suzanna G M Frints; Alfons Meindl; Oliver Brandau; Nathalie Ronce; Claude Moraine; Hans van Bokhoven; Hans-Hilger Ropers; Ralf Sudbrak; Axel Kahn; Jean-Pierre Fryns; Cherif Beldjord; Jamel Chelly
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Nature genetics 2000;24(2):167-70.
1999: Lekbir Baala; Smaïl Hadj-Rabia; Joël Zlotogora; K Kabbaj; H Chhoul; Arnold Munnich; Stanislas LYONNET; abdelaziz sefiani
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.
American journal of human genetics 1999;64(2):651-3.
1998: K Kabbaj; Lekbir Baala; H Chhoul; abdelaziz sefiani
Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family.
Journal of medical genetics 1998;35(12):1043-4.
1998: S C Deqaqi; M N'Guessan; J Forner; A Sbiti; Cherif Beldjord; Jamel Chelly; abdelaziz sefiani; Vincent des Portes
A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11.
Annales de génétique 1998;41(1):11-6.