412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders
Makrythanasis, P, Nelis, M, Santoni, FA, Guipponi, M, Béna, F, Vanier, A, Duriaux-Sail, G, Gimelli, S, Stathaki, E, Falconnet, E, Temtamy, S, Megarbane, A, Aglan, M, Zaki, M, Fokstuen, S, Bottani, A, Masri, A, Psoni, S, Kitsiou, S, Frissyra, H, Kanavakis, E, All-Allawi, N, Sefiani, A, Al-Hait, S, Elalaoui, S, Jalkh, N, Al-Gazali, L, Al-Jasmi, F, Bouhamed, H Chaabouni, Hamamy, H, Antonarakis, SE
Published in Archives of disease in childhood (01.10.2012)
Published in Archives of disease in childhood (01.10.2012)
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Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation
Ratbi, I., Fejjal, N., Micale, L., Augello, B., Fusco, C., Lyahyai, J., Merla, G., Sefiani, A.
Published in Molecular syndromology (01.03.2013)
Published in Molecular syndromology (01.03.2013)
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Autosomal dominant microtia
Chafai Elalaoui, S, Cherkaoui Jaouad, I, Rifai, L, Sefiani, A
Published in European journal of medical genetics (01.03.2010)
Published in European journal of medical genetics (01.03.2010)
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Three cases of Hutchinson-Gilford progeria syndrome
Doubaj, Y, Lamzouri, A, Elalaoui, S-C, Laarabi, F-Z, Sefiani, A
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2011)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2011)
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Une cause rare d’exophtalmie bilatérale chez l’enfant
Taiaa, Oumkaltoum, Amasdlm, S, Fikri, M, El kettani, N, Elkhamlichi, A, Sefiani, A, Elhassani, M.-R, Jiddane, M
Published in Journal of neuroradiology (01.03.2017)
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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
Piccolo, F, Chaouch, M, Jeanpierre, M, Romero, N.B, Campbell, K.P, Voit, T, Kaplan, J-C, El Kerch, F, Collin, H, Roberds, S.L, Eymard, B, Fardeau, M, Leturcq, F, Beckmann, J.S, Sefiani, A, Tomé, F.M.S, Azibi, K, Récan, D, Reghis, A, Merlini, L, Beldjord, C, Carrié, A
Published in Nature genetics (01.06.1995)
Published in Nature genetics (01.06.1995)
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Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation
Belguith, H, Hajji, S, Salem, N, Charfeddine, I, Lahmar, I, Amor, M B, Ouldim, K, Chouery, E, Driss, N, Drira, M, Mégarbané, A, Rebai, A, Sefiani, A, Masmoudi, S, Ayadi, H
Published in Clinical genetics (01.08.2005)
Published in Clinical genetics (01.08.2005)
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Omenn Syndrome with Mutation in RAG1 Gene
Jaouad, I. Cherkaoui, Ouldim, K., Ali Ou Alla, S., Kriouile, Y., Villa, A., Sefiani, A.
Published in Indian journal of pediatrics (01.09.2008)
Published in Indian journal of pediatrics (01.09.2008)
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MYH Associated Polyposis with a p.Tyr165Cys Mutation in a Moroccan Patient
Laarabi, F, Jaouad, I, El Kerch, F, Sefiani, A
Published in Balkan journal of medical genetics (01.01.2009)
Published in Balkan journal of medical genetics (01.01.2009)
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The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco
Ratbi, I, Hajji, S, Ouldim, K, Aboussair, N, Feldmann, D, Sefiani, A
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.05.2007)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.05.2007)
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Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1
Thauvin-Robinet, C, El Ghouzzi, V, Chemaitilly, W, Dagoneau, N, Boute, O, Viot, G, Mégarbané, A, Sefiani, A, Munnich, A, Le Merrer, M, Cormier-Daire, V
Published in Journal of medical genetics (01.10.2002)
Published in Journal of medical genetics (01.10.2002)
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Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases
Haskamp, Stefan, Bruns, Heiko, Hahn, Madelaine, Hoffmann, Markus, Gregor, Anne, Löhr, Sabine, Hahn, Jonas, Schauer, Christine, Ringer, Mark, Flamann, Cindy, Frey, Benjamin, Lesner, Adam, Thiel, Christian T., Ekici, Arif B., von Hörsten, Stephan, Aßmann, Gunter, Riepe, Claudia, Euler, Maximilien, Schäkel, Knut, Philipp, Sandra, Prinz, Jörg C., Mößner, Rotraut, Kersting, Florina, Sticherling, Michael, Sefiani, Abdelaziz, Lyahyai, Jaber, Sondermann, Wiebke, Oji, Vinzenz, Schulz, Peter, Wilsmann-Theis, Dagmar, Sticht, Heinrich, Schett, Georg, Reis, André, Uebe, Steffen, Frey, Silke, Hüffmeier, Ulrike
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report
Amllal, N., Lyahyai, J., Elalaoui, S.C., Sefiani, A., Ratbi, I.
Published in Gene reports (01.09.2024)
Published in Gene reports (01.09.2024)
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Both Recessive and Dominant Forms of Anhidrotic/Hypohidrotic Ectodermal Dysplasia Map to Chromosome 2q11-q13
Baala, L., Hadj Rabia, S., Zlotogora, J., Kabbaj, K., Chhoul, H., Munnich, A., Lyonnet, S., Sefiani, A.
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
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Comparative Clinical and Transcriptomal Profiles of Breast Cancer Between French and South Mediterranean Patients Show Minor but Significative Biological Differences
N. CHALABI, D.J. BERNARD-GALLON, Y.-J. BIGNON, THE BREAST MED CONSORTIUM: F. KWIATKOWSKI, M. AGIER, V. VIDAL, V. LAPLACE-CHABAUD, V. SYLVAIN-VIDAL, V. BERTHOLET, F. DE LONGUEVILLE, M. LACROIX, G. LECLERCQ, J. REMACLE, C. SIBILLE, N. ZAMMATEO, N. BEN JAAFAR, A. SEFIANI, K. OULDIM, A. MÃGARBANÃ, N. JALKH, W. MAHFOUDH, W. TROUDI, A. BEN AMMAR-EL GAÃED, L. CHOUCHANE
Published in Cancer genomics & proteomics (01.09.2008)
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Published in Cancer genomics & proteomics (01.09.2008)
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