Ident. | Authors (with country if any) | Title |
---|
000027 (2006) |
Caroline Lefèvre [France] ; Bakar Bouadjar ; Véronique Ferrand ; Gianluca Tadini ; André Mégarbané ; Mark Lathrop ; Jean-François Prud'Homme ; Judith Fischer | Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. |
000086 (2009) |
Carsten W. Lederer [Chypre (pays)] ; A Nazli Basak ; Yesim Aydinok ; Soteroula Christou ; Amal El-Beshlawy ; Androulla Eleftheriou ; Slaheddine Fattoum ; Alex E. Felice ; Eitan Fibach ; Renzo Galanello ; Roberto Gambari ; Lucian Gavrila ; Piero C. Giordano ; Frank Grosveld ; Helen Hassapopoulou ; Eva Hladka ; Emmanuel Kanavakis ; Franco Locatelli ; John Old ; George P. Patrinos ; Giovanni Romeo ; Ali Taher ; Joanne Traeger-Synodinos ; Panayiotis Vassiliou ; Ana Villegas ; Ersi Voskaridou ; Henri Wajcman ; Anastasios Zafeiropoulos ; Marina Kleanthous | An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project. |
000091 (2009) |
Khadija Bakhouch [Maroc] ; Ahd Oulad-Lahcen ; Rajae Bensghir ; Mohamed Blaghen ; Kamal Marhoum Elfilali ; Sayeh Ezzikouri ; Omar Abidi ; Mohamed Hassar ; Lahcen Wakrim | The prevalence of resistance-associated mutations to protease and reverse transcriptase inhibitors in treatment-naïve (HIV1)-infected individuals in Casablanca, Morocco. |
000144 (2012) |
H L Lobna [Tunisie] ; B. Ali ; A. Hammadi | Analysis of cystic fibrosis transmembrane regulator and azoospermia factor polymorphisms in infertile men in relation to other abnormalities. |
000148 (2011) |
Soumaya Kouidhi [Tunisie] ; Kamel Rouissi ; Sami Khedhiri ; Slah Ouerhani ; Mohamed Cherif ; Amel Benammar-Elgaaied | MTHFR gene polymorphisms and bladder cancer susceptibility: a meta-analysis including race, smoking status and tumour stage. |
000160 (2012) |
Samira Hadhri ; Mohamed Ben Rejab ; Hajer Guedria ; Lamia Ifa ; Noureddine Chatti ; Hadef Skouri | Factor V Leiden, Prothrombin 20210G>A, MTHFR 677C>T and 1298A>C, and Homocysteinemia in Tunisian Blood Donors |
000167 (2012) |
Hejer Elmahmoudi [Tunisie] ; Houssein Khodjet-El-Khil [Tunisie] ; Edvard Wigren [Suède] ; Asma Jlizi [Tunisie] ; Kaouther Zahra [Tunisie] ; Dorothé Pellechia [France] ; Christine Vinciguerra [France] ; Balkis Meddeb [Tunisie] ; Amel Ben Ammar Elggaaied [Tunisie] ; Emna Gouider [Tunisie] | First report of molecular diagnosis of Tunisian hemophiliacs A: Identification of 8 novel causative mutations |
000181 (2012) |
Imen Kallel [Tunisie] ; Maha Rebai ; Ahmed Rebai | Mutations and polymorphisms of estrogens receptors genes and diseases susceptibility. |
000196 (2013) |
Siwar Baklouti-Gargouri [Tunisie] ; Myriam Ghorbel ; Afif Ben Mahmoud ; Emna Mkaouar-Rebai ; Meriam Cherif ; Nozha Chakroun ; Afifa Sellami ; Faiza Fakhfakh ; Leila Ammar-Keskes | Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men. |
000206 (2013) |
Hicham Charoute [Maroc] ; Halima Nahili [Maroc] ; Omar Abidi [Maroc] ; Khalid Gabi [Maroc] ; Hassan Rouba [Maroc] ; Malika Fakiri [Maroc] ; Abdelhamid Barakat [Maroc] | The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility |
000208 (2013) |
Sameh Ben Mabrouk [Tunisie] ; Dorra Zouari Ayadi ; Hajer Ben Hlima ; Samir Bejar | Thermostability improvement of maltogenic amylase MAUS149 by error prone PCR. |
000214 (2013) |
Petros Papadopoulos [Grèce] ; Emmanouil Viennas [Grèce] ; Vassiliki Gkantouna [Grèce] ; Cristiana Pavlidis [Grèce] ; Marina Bartsakoulia [Grèce] ; Zafeiria-Marina Ioannou [Grèce] ; Ilham Ratbi [Maroc] ; Abdelaziz Sefiani [Maroc] ; John Tsaknakis [Grèce] ; Konstantinos Poulas [Grèce] ; Giannis Tzimas [Grèce] ; George P. Patrinos [Grèce] | Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies |
000242 (2014) |
Baklouti-Gargouri Siwar [Tunisie] ; Ghorbel Myriam [Tunisie] ; Ben Mahmoud Afif [Tunisie] ; Mkaouar-Rebai Emna [Tunisie] ; Chakroun Nozha [Tunisie] ; Sellami Afifa [Tunisie] ; Fakhfakh Faiza [Tunisie] ; Ammar-Keskes Leila [Tunisie] | Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men. |
000286 (2015) |
Hicham Charoute [Maroc] ; Amina Bakhchane [Maroc] ; Houda Benrahma [Maroc] ; Lilia Romdhane [Tunisie] ; Khalid Gabi [Maroc] ; Hassan Rouba [Maroc] ; Malika Fakiri [Maroc] ; Sonia Abdelhak [Tunisie] ; Guy Lenaers [France] ; Abdelhamid Barakat [Maroc] | Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population. |
000321 (2016) |
Mariem Ben Said [Tunisie] ; M Amed Grati [États-Unis] ; Takahiro Ishimoto [Japon] ; Bing Zou [États-Unis] ; Imen Chakchouk [Tunisie] ; Qi Ma [États-Unis] ; Qi Yao [États-Unis] ; Bouthaina Hammami [Tunisie] ; Denise Yan [États-Unis] ; Rahul Mittal [États-Unis] ; Noritaka Nakamichi [Japon] ; Abdelmonem Ghorbel [Tunisie] ; Lingling Neng [États-Unis] ; Mustafa Tekin [États-Unis] ; Xiao Rui Shi [États-Unis] ; Yukio Kato [Japon] ; Saber Masmoudi [Tunisie] ; Zhongmin Lu [États-Unis] ; Mounira Hmani [Tunisie] ; Xuezhong Liu [États-Unis, République populaire de Chine] | A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60 |
000326 (2016) |
Amina Bakhchane [Maroc] ; Amale Bousfiha [Maroc] ; Hicham Charoute [Maroc] ; Sara Salime [Maroc] ; Mustapha Detsouli [Maroc] ; Khalid Snoussi [Maroc] ; Sellama Nadifi [Maroc] ; Mostafa Kabine [Maroc] ; Hassan Rouba [Maroc] ; Hind Dehbi [Maroc] ; Rachida Roky [Maroc] ; Majida Charif [Maroc] ; Abdelhamid Barakat [Maroc] | Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss. |
000329 (2016) |
Ankita Shukla [Inde] ; Ahmed Moussa [Maroc] ; Tiratha Raj Singh [Inde] | DREMECELS: A Curated Database for Base Excision and Mismatch Repair Mechanisms Associated Human Malignancies |
000340 (2016) |
Farah Jouali [Maroc] ; Fatima-Zahra Laarabi [Maroc] ; Nabila Marchoudi [Maroc] ; Ilham Ratbi [Maroc] ; Siham Chafai Elalaoui [Maroc] ; Houria Rhaissi [Maroc] ; Jamal Fekkak [Maroc] ; Abdelaziz Sefiani [Maroc] | First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene |
000359 (2016) |
Reiko Kagawa [Japon] ; Ryoji Fujiki [Japon] ; Miyuki Tsumura [Japon] ; Sonoko Sakata [Japon] ; Shiho Nishimura [Japon] ; Yuval Itan [États-Unis] ; Xiao-Fei Kong [États-Unis] ; Zenichiro Kato [Japon] ; Hidenori Ohnishi [Japon] ; Osamu Hirata [Japon] ; Satoshi Saito [Japon] ; Maiko Ikeda [Japon] ; Jamila El Baghdadi [Maroc] ; Aziz Bousfiha [Maroc] ; Kaori Fujiwara [Japon] ; Matias Oleastro [Argentine] ; Judith Yancoski [Argentine] ; Laura Perez [Argentine] ; Silvia Danielian [Argentine] ; Fatima Ailal [Maroc] ; Hidetoshi Takada [Japon] ; Toshiro Hara [Japon] ; Anne Puel [États-Unis, France] ; Stéphanie Boisson-Dupuis [États-Unis, France] ; Jacinta Bustamante [États-Unis, France] ; Jean-Laurent Casanova [États-Unis, France] ; Osamu Ohara [Japon] ; Satoshi Okada [Japon, États-Unis] ; Masao Kobayashi [Japon] | Alanine-scanning mutagenesis of human STAT1 to estimate loss- or gain-of-function variants |
000634 (2020) |
Yosr Hamdi [Tunisie] ; Manel Jerbi [Tunisie] ; Lilia Romdhane [Tunisie] ; Mariem Ben Rekaya [Tunisie] ; Houda El Benna [Tunisie] ; Lotfi Chouchane [Qatar] ; Mohamed Samir Boubaker [Tunisie] ; Sonia Abdelhak [Tunisie] ; Houda Yacoub-Youssef [Tunisie] | Genetic diversity and functional effect of common polymorphisms in genes involved in the first heterodimeric complex of the Nucleotide Excision Repair pathway. |
000665 (2020) |
Aissam El Aliani [Maroc] ; Hassan El Abid [Maroc] ; Yassmine Kassal [Maroc] ; Meriem Khyatti [Maroc] ; Mohammed Attaleb [Maroc] ; Moulay Mustapha Ennaji [Maroc] ; Mohamed El Mzibri [Maroc] | HPV16 L1 diversity and its potential impact on the vaccination-induced immunity. |