CONSANGUINEOUS MARRIAGES IN MOROCCO AND THE CONSEQUENCE FOR THE INCIDENCE OF AUTOSOMAL RECESSIVE DISORDERS

by JAOUAD, I. CHERKAOUI, ELALAOUI, S. CHAFAÏ, SBITI, A., ELKERH, F., BELMAHI, L., SEFIANI, A.
Published in Journal of biosocial science

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

by Smaili, W, Elalaoui, S Chafai, Meier, S, Zerkaoui, M, Sefiani, A, Heinimann, K
Published in BMC medical genetics

Autosomal dominant microtia

by Chafai Elalaoui, S, Cherkaoui Jaouad, I, Rifai, L, Sefiani, A
Published in European journal of medical genetics

Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features

by Smaili, W., Elalaoui, S. Chafai, Zrhidri, A., Raymond, L., Egéa, G., Taoudi, M., Mouatassim, S.E.L., Sefiani, A., Lyahyai, J.
Published in European journal of medical genetics

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

by Petzold, Friederike, Billot, Katy, Filhol, Emilie, Martin, Yoann, Morinière, Vincent, Krug, Pauline, Tory, Kalman, Servais, Aude, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Saunier, Sophie, Attié-Bitach, Tania, Mohsin, Nabil, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Gagnadoux, Marie-France, Ranchin, Bruno, Knebelmann, Bertrand, Burtey, Stéphane, Morin, Denis, Dollfus, Hélène, Hamel, Christian, Bieth, Eric, Gie, Sophie, Bessenay, Lucie, Palcoux, Jean Bernard, Dubot, Philippe, Iftene, Daouya, Lahoche, Anine, Leclerc, Anne-Laure, Milford, David, Chauveau, Dominique, Allard, Lisa, Adra, Anne-Laure, Baatard, Remy, Bacchetta, Justine, Benmati, Faïza, Boffa, Jean Jacques, Bourdat-Michel, Guylhène, Elalaoui, Siham Chafai, Graber, Denis, Diouf, Boucar, Fryer, Alan, Albano, Laetitia, Chaussenot, Annabelle, Bottani, Armand, Hummel, Aurélie, Katz, Avi, Mariat, Christiophe, Champion, Gérard, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Lacombe, Didier, Charlin, Emmanuelle, Plasse, Florent, Lebas, Fanny, Dumont, Geneviève, Guigonis, Vincent, Coudert, Krier, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Nizon, Mathilde, Foulard, Michel, Brun, Nathalie, Noble, Claire Pouteil, Bernard, Raphaelle, Cahen, Rémi, Sacquepee, Mathieu, Haq, Shuman, Lanoiselée, Stéphanie, Subra, Jean-François, Cloarec, Sylvie, Lamy, Thomas, Garraud, Valérie Drouin, Finielz, Paul, Foliguet, Bernard, Francois-Pradier, Hélène, Gerard, Marion, Dubrasquet, Astrid Godron, Knoers, Nine, de Parscau, Loïc, Rio, Marlène, Merville, Pierre, Moreau, Karine, Mourad, Georges, Niel, Olivier, Malvezzi, Paolo, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Pichault, Valérie, Boudailliez, Bernard, Berland, Yves, Rossi, Annick, Tsimaratos, Michel, Willems, Marjolaine, Youssef, Michel
Published in Kidney international

Colonic duplication associated with a common mesenterium revealed by cecal volvulus in a young adult

by Alahyane, A, Echarrab, M, Lachkar, A, Belmir, H, El Fahssi, M, Chafaï Elalaoui, S, M'bida, R, El Absi, M, El Ounani, M, El Alami El Faricha, E H, Amraoui, M, Errougani, A, Jahid, A, Chkoff, M R
Published in Gastroentérologie clinique et biologique

Duplication colique associée à un mésentère commun révélés par un volvulus du cæcum chez un jeune adulte

by Alahyane, A., Echarrab, M., Lachkar, A., Belmir, H., El Fahssi, M., Chafaï Elalaoui, S., M’bida, R., El Absi, M., El Ounani, M., El Alami El Faricha, E.H., Amraoui, M., Errougani, A., Jahid, A., Chkoff, M.R.
Published in Gastroentérologie clinique et biologique

Colonic duplication associated with a common mesenterium revealed by cecal volvulus in a young adult

by Alahyane, A, Echarrab, M, Lachkar, A, Belmir, H, El Fahssi, M, Chafaï Elalaoui, S, M'bida, R, El Absi, M, El Ounani, M, El Alami El Faricha, E H, Amraoui, M, Errougani, A, Jahid, A, Chkoff, M R
Published in Gastroenterologie clinique et biologique

Non lethal Raine syndrome and differential diagnosis

by Elalaoui, Siham Chafai, Al-Sheqaih, Nada, Ratbi, Ilham, Urquhart, Jill E, O'Sullivan, James, Bhaskar, Sanjeev, Williams, Simon S, Elalloussi, Mustapha, Lyahyai, Jaber, Sbihi, Leila, Cherkaoui Jaouad, Imane, Sbihi, Abdelhafid, Newman, William G, Sefiani, Abdelaziz
Published in European journal of medical genetics

Natural history of non-lethal Raine syndrome during childhood

by Mameli, Chiara, Zichichi, Giulia, Mahmood, Nasim, Elalaoui, Siham Chafai, Mirza, Adnan, Dharmaraj, Poonam, Burrone, Marco, Cattaneo, Elisa, Sheth, Jayesh, Gandhi, Ajit, Kochar, Gurpreet Singh, Alkuraya, Fowzan Sami, Kabra, Madhulika, Mercurio, Giuseppe, Zuccotti, Gianvincenzo
Published in Orphanet journal of rare diseases

Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome

by Amllal, Nada, Elalaoui, Siham Chafai, Zerkaoui, Maria, Chiguer, Amal, Afif, Lamia, Izgua, Amal Thimou, Sefiani, Abdelaziz, Lyahyai, Jaber
Published in Annals of laboratory medicine

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

by Elalaoui, Siham Chafai, Smaili, Wiam, Van-Gils, Julien, Fergelot, Patricia, Ratbi, Ilham, Tajir, Mariam, Arveiler, Benoit, Lacombe, Didier, Sefiani, Abdelaziz
Published in African health sciences

Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case report

by El Mouhi, Hinde, Amllal, Nada, Abbassi, Meriame, Nedbour, Ayoub, Jalte, Meryem, Lyahyai, Jaber, Chafai Elalaoui, Siham, Bouguenouch, Laila, Chaouki, Sana
Published in Molecular biology reports

Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region

by Elalaoui, Siham Chafai, Laarabi, Fatima Zohra, Afif, Lamiae, Lyahyai, Jaber, Ratbi, Ilham, Jaouad, Imane Cherkaoui, Doubaj, Yassamine, Sahli, Meryem, Ouhenach, Mouna, sefiani, Abdelaziz
Published in Breast cancer research and treatment

A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain

by Mansouri, Maria, MD, Chafai Elalaoui, Siham, MD, Ouled Amar Bencheikh, Bouchra, PhD, El Alloussi, Mohamed, MD, Dion, Patrick A., PhD, Sefiani, Abdelaziz, MD, PhD, Rouleau, Guy A., MD, PhD
Published in Pediatric neurology

Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco

by El Kadiri, Youssef, Ratbi, Ilham, Ouhenach, Mouna, Chafai Elalaoui, Siham, Cherkaoui Jaouad, Imane, Zrhidri, Abdelali, Sahli, Maryem
Published in The Egyptian journal of medical human genetics

High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control

by Laarabi, Fatima-Zahra, Ratbi, Ilham, Elalaoui, Siham Chafai, Mezzouar, Loubna, Doubaj, Yassamine, Bouguenouch, Laila, Ouldim, Karim, Benjaafar, Noureddine, Sefiani, Abdelaziz
Published in BMC research notes

Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia

by Cherkaoui Jaouad, Imane, Laarabi, Fatima Z., Chafai Elalaoui, Siham, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Sefiani, Abdelaziz
Published in Molecular syndromology

Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report

by Elalaoui, Siham Chafai, Fejjal, Nawfal, Li, Yun, Thiele, Holger, Altmüller, Janine, Guaoua, Soukaina, Nürnberg, Peter, Wollnik, Bernd, Sefiani, Abdelaziz, Ratbi, Ilham
Published in The Pan African medical journal

Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report

by Amasdl, Saadia, Natiq, Abdelhafid, Elalaoui, Siham Chafai, Sbiti, Aziza, Liehr, Thomas, Sefiani, Abdelaziz
Published in Journal of medical case reports