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Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 3, p. 170, doi. 10.1038/jhg.2011.122
By:
- Mili, Amira;
- Ben Charfeddine, Ilhem;
- Mamaï, Ons;
- Cherif, Wafa;
- Adala, Labiba;
- Amara, Abdelbasset;
- Pagliarani, Serena;
- Lucchiari, Sabrina;
- Ayadi, Abdelkarim;
- Tebib, Neji;
- Harbi, Abdelaziz;
- Bouguila, Jihene;
- H'Mida, Dorra;
- Saad, Ali;
- Limem, Khalifa;
- Comi, G P;
- Gribaa, Moez
Publication type:
Article
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 3, p. 221, doi. 10.1038/jhg.2012.3
By:
- Mili, Amira;
- Charfeddine, Ilhem Ben;
- Mama, Ons;
- Abdelhak, Sonia;
- Adala, Labiba;
- Amara, Abdelbasset;
- Pagliarani, Serena;
- Lucchiarri, Sabrina;
- Ayadi, Abdelkarim;
- Tebib, Neji;
- Harbi, Abdelaziz;
- Bouguila, Jihene;
- H'Mida, Dorra;
- Saad, Ali;
- Limem, Khalifa;
- Comi, G P;
- Gribaa, Moez
Publication type:
Article
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.
Published in:
Pan African Medical Journal, 2020, v. 36, p. 1, doi. 10.11604/pamj.2020.36.226.24270
By:
- Elfekih, Hamza;
- Ben Abdelkrim, Asma;
- Marzouk, Hajer;
- Saad, Ghada;
- Gribaa, Moez;
- Hasni, Yosra;
- Maaroufi, Amel
Publication type:
Article
Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus.
Published in:
Iranian Journal of Public Health, 2015, v. 44, n. 3, p. 396
By:
- AMARA, Abdelbasset;
- CHARFEDDINE, Ilhem BEN;
- GHÉDIR, Houda;
- MAMAÏ, Ons;
- JEMNI-YACOUB, Saloua;
- CHAIEB, Larbi;
- SAAD, Ali;
- CHADLI-CHAIEB, Molka;
- GRIBAA, Moez
Publication type:
Article
Challenges for Molecular Diagnosis of Familial Early-Onset Diabetes in Unexplored Populations.
Published in:
2014
By:
- AMARA, Abdelbasset;
- CHADLI-CHAIEB, Molka;
- CHAIEB, Larbi;
- SAAD, Ali;
- GRIBAA, Moez
Publication type:
Letter to the Editor
Prostatic tissue in 46XX congenital adrenal hyperplasia: Case report and literature review.
Published in:
Clinical Case Reports, 2021, v. 9, n. 3, p. 1655, doi. 10.1002/ccr3.3868
By:
- Elfekih, Hamza;
- Ben Abdelkrim, Asma;
- Marzouk, Hajer;
- Saad, Ghada;
- Gasmi, Ayoub;
- Gribaa, Moez;
- Zaghouani, Hounaida;
- Hasni, Yosra;
- Maaroufi, Amel
Publication type:
Article
Functional analysis of MMR gene VUS from potential Lynch syndrome patients.
Published in:
PLoS ONE, 2024, v. 19, n. 6, p. 1, doi. 10.1371/journal.pone.0304141
By:
- Mahdouani, Marwa;
- Zhuri, Drenushe;
- Sezginer Guler, Hazal;
- Hmida, Dorra;
- Sana, Mokni;
- Azaza, Mohamed;
- Ben Said, Mariem;
- Masmoudi, Saber;
- Hmila, Fahmi;
- Youssef, Sabri;
- Ben Sghaier, Rihab;
- Brieger, Angela;
- Zeuzem, Stefan;
- Saad, Ali;
- Gurkan, Hakan;
- Yalcintepe, Sinem;
- Gribaa, Moez;
- Plotz, Guido
Publication type:
Article
Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions.
Published in:
Journal of Investigative Dermatology, 2015, v. 135, n. 1, p. 304, doi. 10.1038/jid.2014.311
By:
- Mamaï, Ons;
- Boussofara, Lobna;
- Denguezli, Mohamed;
- Escande-Beillard, Nathalie;
- Kraeim, Wahiba;
- Merriman, Barry;
- Ben Charfeddine, Ilhem;
- Stevanin, Giovanni;
- Bouraoui, Sana;
- Amara, Abdelbasset;
- Mili, Amira;
- Nouira, Rafiaa;
- H'mida, Dorra;
- Sriha, Badreddine;
- Gribaa, Moez;
- Saad, Ali;
- Reversade, Bruno
Publication type:
Article
Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions.
Published in:
Journal of Investigative Dermatology, 2014, v. 134, n. 7, p. 304, doi. 10.1038/jid.2014.311
By:
- Mamaı, Ons;
- Boussofara, Lobna;
- Denguezli, Mohamed;
- Escande-Beillard, Nathalie;
- Kraeim, Wahiba;
- Merriman, Barry;
- Charfeddine, Ilhem Ben;
- Stevanin, Giovanni;
- Bouraoui, Sana;
- Amara, Abdelbasset;
- Mili, Amira;
- Nouira, Rafiaa;
- H’mida, Dorra;
- Sriha, Badreddine;
- Gribaa, Moez;
- Saad, Ali;
- Reversade, Bruno
Publication type:
Article
Distinguishing the four genetic causes of jouberts syndrome–related disorders.
Published in:
Annals of Neurology, 2005, v. 57, n. 4, p. 513
By:
- Enza Maria Valente;
- Sarah E. Marsh;
- Marco Castori;
- Tracy Dixon‐Salazar;
- Enrico Bertini;
- Lihadh Al‐Gazali;
- Jean Messer;
- Clara Barbot;
- C. Geoffrey Woods;
- Eugen Boltshauser;
- Asma A. Al‐Tawari;
- Carmelo D. Salpietro;
- Hulya Kayserili;
- László Sztriha;
- Moez Gribaa;
- Michel Koenig;
- Bruno Dallapiccola;
- Joseph G. Gleeson
Publication type:
Article
Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.
Published in:
Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 11, p. 1651, doi. 10.1007/s10815-015-0565-4
By:
- Ghédir, Houda;
- Gribaa, Moez;
- Mamaî, Ons;
- Ben Charfeddine, Ilhem;
- Braham, Asma;
- Amara, Abdelbasset;
- Mehdi, Meriem;
- Saad, Ali;
- Ibala-Romdhane, Samira
Publication type:
Article
Targeted next generation sequencing screening of Lynch syndrome in Tunisian population.
Published in:
Familial Cancer, 2019, v. 18, n. 3, p. 343, doi. 10.1007/s10689-019-00130-y
By:
- Ben Sghaier, Rihab;
- Jansen, Anne Maria Lucia;
- Bdioui, Ahlem;
- Van Wezel, Tom;
- ksiaa, Mehdi;
- Elgolli, Lamia;
- Ben Fatma, Leila;
- Ben Ahmed, Slim;
- Azzouz, Mohamed Msaddak;
- Hellara, Olfa;
- Elghali, Amine;
- Darbel, Fathi;
- Skandrani, Karim;
- Mokkni, Moncef;
- Gdissa, Ameni;
- Ltaief, Rached;
- Saad, Ali;
- Hmila, Fahmi;
- Gribaa, Moez;
- Morreau, Hans
Publication type:
Article
Modulation at Age of Onset in Tunisian Huntington Disease Patients: Implication of New Modifier Genes.
Published in:
Genetics Research International, 2014, p. 1, doi. 10.1155/2014/210418
By:
- Brahim, Dorra Hmida-Ben;
- Chourabi, Marwa;
- Amor, Sana Ben;
- Harrabi, Imed;
- Trabelsi, Saoussen;
- Haddaji-Mastouri, Marwa;
- Gribaa, Moez;
- Sassi, Sihem;
- Gahbiche, Fatma Ezzahra;
- Lamouchi, Turkia;
- Mougou-Zereli, Soumaya;
- Ammou, Sofiane Ben;
- Saad, Ali
Publication type:
Article
Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.
Published in:
PLoS ONE, 2022, v. 17, n. 12, p. 1, doi. 10.1371/journal.pone.0278283
By:
- Mahdouani, Marwa;
- Ben Ahmed, Slim;
- Hmila, Fahmi;
- Rais, Henda;
- Ben Sghaier, Rihab;
- Saad, Hanene;
- Ben Said, Mariem;
- Masmoudi, Saber;
- Hmida, Dorra;
- Brieger, Angela;
- Zeuzem, Stefan;
- Saad, Ali;
- Gribaa, Moez;
- Plotz, Guido
Publication type:
Article
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Published in:
Reproductive Biology & Endocrinology, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12958-022-01045-7
By:
- Rjiba, Khouloud;
- Mougou-Zerelli, Soumaya;
- Hamida, Imen hadj;
- Saad, Ghada;
- Khadija, Bochra;
- Jelloul, Afef;
- Slimani, Wafa;
- Hasni, Yosra;
- Dimassi, Sarra;
- khelifa, Hela Ben;
- Sallem, Amira;
- Kammoun, Molka;
- Abdallah, Hamza Hadj;
- Gribaa, Moez;
- Bignon-Topalovic, Joelle;
- Chelly, Sami;
- Khairi, Hédi;
- Bibi, Mohamed;
- Kacem, Maha;
- Saad, Ali
Publication type:
Article
Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia.
Published in:
Prenatal Diagnosis, 2007, v. 27, n. 5, p. 471, doi. 10.1002/pd.1707
By:
- Hatem, Elghezal;
- Meriam, Ben Rekaya;
- Walid, Denguezli;
- Adenen, Moussa;
- Moez, Gribaa;
- Ali, Saad
Publication type:
Article
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 2, p. 307, doi. 10.1093/hmg/ddi027
By:
- Fernet, Marie;
- Gribaa, Moez;
- Salih, Mustafa A.M.;
- Seidahmed, Mohamed Zein;
- Hall, Janet;
- Koenig, Michel
Publication type:
Article
NLRP7 Mutation Analysis in Sporadic Hydatidiform Moles in Tunisian Patients.
Published in:
Archives of Pathology & Laboratory Medicine, 2012, v. 136, n. 6, p. 646, doi. 10.5858/arpa.2011-0399-OA
By:
- Landolsi, Hanéne;
- Rittore, Cécile;
- Philibert, Laurent;
- Hmissa, Sihem;
- Gribaa, Moez;
- Touitou, Isabelle;
- Tahar Yacoubi, Mohamed
Publication type:
Article
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.
Published in:
Journal of Bone & Mineral Metabolism, 2010, v. 28, n. 1, p. 111, doi. 10.1007/s00774-009-0111-5
By:
- Moez Gribaa;
- Mohamed Younes;
- Yosra Bouyacoub;
- Wided Korbaa;
- Ilhem Ben Charfeddine;
- Mongi Touzi;
- Labiba Adala;
- Ons Mamay;
- Naceur Bergaoui;
- Ali Saad
Publication type:
Article

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