The gene for incontinentia pigmenti is assigned to Xq28
Sefiani, A., Abel, L., Heuertz, S., Sinnett, D., Lavergne, L., Labuda, D., Hors-Cayla, M.C.
Published in Genomics (San Diego, Calif.) (01.04.1989)
Published in Genomics (San Diego, Calif.) (01.04.1989)
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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
El Kerch, F, Lamzouri, A, Laarabi, F Z, Zahi, M, Ben Amar, B, Sefiani, A
Published in Journal de gynecologie, obstetrique et biologie de la reproduction (01.06.2011)
Published in Journal de gynecologie, obstetrique et biologie de la reproduction (01.06.2011)
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La mutation 35delG du gène de la connexine 26, une cause fréquente des surdités non syndromiques autosomiques récessives au Maroc
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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Journal Article
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism: Acromelic frontonasal dysostosis and ZSWIM6 mutation
Twigg, S.R.F., Ousager, L.B., Miller, K.A., Zhou, Y., Elalaoui, S.C., Sefiani, A., Bak, G.S, Hove, H., Hansen, L.K., Fagerberg, C.R., Tajir, M., Wilkie, A.O.M.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population
Dieterich, Klaus, Zouari, Raoudha, Harbuz, Radu, Vialard, François, Martinez, Delphine, Bellayou, Hanane, Prisant, Nadia, Zoghmar, Abdelali, Guichaoua, Marie Roberte, Koscinski, Isabelle, Kharouf, Mahmoud, Noruzinia, Mehrdad, Nadifi, Sellama, Sefiani, Abdelaziz, Lornage, Jacqueline, Zahi, Mohamed, Viville, Stéphane, Sèle, Bernard, Jouk, Pierre-Simon, Jacob, Marie-Christine, Escalier, Denise, Nikas, Yorgos, Hennebicq, Sylviane, Lunardi, Joël, Ray, Pierre F.
Published in Human molecular genetics (01.04.2009)
Published in Human molecular genetics (01.04.2009)
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Journal Article
Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa
el Kerch, F, Sefiani, A, Azibi, K, Boutaleb, N, Yahyaoui, M, Bentahila, A, Vinet, M C, Leturcq, F, Bachner, L, Beckmann, J
Published in Journal of medical genetics (01.04.1994)
Published in Journal of medical genetics (01.04.1994)
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Journal Article
An inherited LMNA gene mutation in atypical Progeria syndrome
Doubaj, Yassamine, De Sandre‐Giovannoli, Annachiara, Vera, Esteves‐Vieira, Navarro, Claire Laure, Elalaoui, Siham Chafai, Tajir, Mariam, Lévy, Nicolas, Sefiani, Abdelaziz
Published in American journal of medical genetics. Part A (01.11.2012)
Published in American journal of medical genetics. Part A (01.11.2012)
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Journal Article
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Kalscheuer, Vera M, Freude, Kristine, Musante, Luciana, Jensen, Lars R, Yntema, Helger G, Gécz, Jozef, Sefiani, Abdelaziz, Hoffmann, Kirsten, Moser, Bettina, Haas, Stefan, Gurok, Ulf, Haesler, Sebastian, Aranda, Beatriz, Nshedjan, Arpik, Tzschach, Andreas, Hartmann, Nils, Roloff, Tim-Christoph, Shoichet, Sarah, Hagens, Olivier, Tao, Jiong, van Bokhoven, Hans, Turner, Gillian, Chelly, Jamel, Moraine, Claude, Fryns, Jean-Pierre, Nuber, Ulrike, Hoeltzenbein, Maria, Scharff, Constance, Scherthan, Harry, Lenzner, Steffen, Hamel, Ben C J, Schweiger, Susann, Ropers, Hans-Hilger
Published in Nature genetics (01.12.2003)
Published in Nature genetics (01.12.2003)
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Journal Article
Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers
Sefiani, A, M'rad, R, Simard, L, Vincent, A, Julier, C, Holvoet-Vermaut, L, Heuertz, S, Dahl, N, Stalder, J F, Peter, M O
Published in Human genetics (01.01.1991)
Published in Human genetics (01.01.1991)
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Frequencies of CYP3A51/3 variants in a Moroccan population and effect on tacrolimus daily dose requirements in renal transplant patients
Elmachad, Mustapha, Elkabbaj, Driss, Elkerch, Fatiha, Laarabi, Fatima Zahra, Barkat, Amina, Oualim, Zouhir, Sefiani, Abdelaziz
Published in Genetic testing and molecular biomarkers (01.06.2012)
Published in Genetic testing and molecular biomarkers (01.06.2012)
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Journal Article
Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome
Szpiro-Tapia, S, Sefiani, A, Guilloud-Bataille, M, Heuertz, S, Le Marec, B, Frézal, J, Maroteaux, P, Hors-Cayla, M C
Published in Human genetics (01.12.1988)
Published in Human genetics (01.12.1988)
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Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in Morocco
Aboussair, Nisrine, Jaouad, Imane Cherkaoui, Dequaqui, Souad Cherkaoui, Sbiti, Aziza, Elkerch, Fatiha, Yahya, Benbouchta, Natiq, Abdelhafid, Sefiani, Abdelaziz
Published in Genetic testing and molecular biomarkers (01.06.2012)
Published in Genetic testing and molecular biomarkers (01.06.2012)
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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
Friocourt, Gaelle, Carrié, Alain, Chafey, Philippe, Brandau, Oliver, Fryns, Jean P, Frints, Suzanna, Ropers, Hans H, Billuart, Pierre, McDonell, Nathalie, Vinet, Marie C, Portes, Vincent des, Cardona, Anna, Moraine, Claude, Fauchereau, Fabien, Couvert, Philippe, Meindl, Alfonse, Ronce, Nathalie, Chelly, Jamel, Beldjord, Cherif, Bokhoven, Han van, Zemni, Ramzi, Sudbrak, Ralf, Francis, Fiona, Sefiani, Aziz, Bienvenu, Thierry, Kahn, Axel
Published in Nature genetics (01.02.2000)
Published in Nature genetics (01.02.2000)
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Journal Article
Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11
Sefiani, A, Sinnett, D, Abel, L, Szpiro-Tapia, S, Heuertz, S, Craig, I, Fraser, N, Kruse, T A, Frydman, M, Peter, M O
Published in Human genetics (01.11.1988)
Published in Human genetics (01.11.1988)
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Confirmation de la forte prévalence au Maroc de la mutation homozygote c.144delC du gène aurora kinase C ( AURKC) dans les tératozoospermies avec spermatozoïdes macrocéphales
El Kerch, F., Lamzouri, A., Laarabi, F.Z., Zahi, M., Ben Amar, B., Sefiani, A.
Published in Journal de gynécologie, obstétrique et biologie de la reproduction (01.06.2011)
Published in Journal de gynécologie, obstétrique et biologie de la reproduction (01.06.2011)
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Journal Article
Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever
Belmahi, Latifa, Sefiani, Abdelaziz, Fouveau, Corinne, Feingold, Josué, Delpech, Marc, Grateau, Gilles, Dodé, Catherine
Published in Comptes rendus. Biologies (01.02.2006)
Published in Comptes rendus. Biologies (01.02.2006)
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