Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia

Autor: Ben Halim, Nizar, Hsouna, Sana, Lasram, Khaled, Rejeb, Insaf, Walha, Asma, Talmoudi, Faten, Messai, Habib, Sabrine Ben Brick, Ahlem, Ouragini, Houyem, Cherif, Wafa, Nagara, Majdi, Rhouma, Faten Ben, Chouchene, Ibtissem, Ouechtati, Farah, Bouyacoub, Yosra, Ben Rekaya, Mariem, Messaoud, Olfa, Ben Ammar, Slim, El Matri, Leila, Tebib, Neji, Ben Dridi, Marie F., Mokni, Mourad, Amouri, Ahlem, Kefi, Rym, Abdelhak, Sonia

Publikováno v: American Journal of Human Biology
American Journal of Human Biology, Wiley, 2016, 28 (2), pp.171-180. ⟨10.1002/ajhb.22764⟩

International audience; Objectives Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact of consanguineous marriages on the occurrence of some specific autos

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https://hal-riip.archives-ouvertes.fr/pasteur-01374977/document

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Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia.

Autor: Ben Halim N; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Hsouna S; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Lasram K; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Rejeb I; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Walha A; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Talmoudi F; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia.; Department of Histology and Cytogenetics, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Messai H; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Sabrine Ben Brick A; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Ouragini H; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Cherif W; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Nagara M; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Ben Rhouma F; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Chouchene I; Oculogenetics Research Unit, Hedi Rais Institute of Ophthalmology, Tunis, 1006, Tunisia., Ouechtati F; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Bouyacoub Y; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Ben Rekaya M; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Messaoud O; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Ben Ammar S; Clinical Biochemistry Laboratory, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., El Matri L; Oculogenetics Research Unit, Hedi Rais Institute of Ophthalmology, Tunis, 1006, Tunisia., Tebib N; Pediatric Department, La Rabta Hospital, Jebbari, 1007, Tunis, Tunisia., Ben Dridi MF; Pediatric Department, La Rabta Hospital, Jebbari, 1007, Tunis, Tunisia., Mokni M; Department of Dermatology, La Rabta Hospital, Jebbari, 1007, Tunis, Tunisia., Amouri A; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia.; Department of Histology and Cytogenetics, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Kefi R; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Abdelhak S; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia.

Publikováno v: American journal of human biology : the official journal of the Human Biology Council [Am J Hum Biol] 2016 Mar-Apr; Vol. 28 (2), pp. 171-80. Date of Electronic Publication: 2015 Jul 16.

[Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients].

Autor: Chouchene I; Unité de recherche d'oculogénétique, Service B, Institut Hedi Rais d'ophtalmologie, Tunis, Tunisie., Largueche L; Unité de recherche d'oculogénétique, Service B, Institut Hedi Rais d'ophtalmologie, Tunis, Tunisie., Ouechtati F; Unité de recherche d'oculogénétique, Service B, Institut Hedi Rais d'ophtalmologie, Tunis, Tunisie, Laboratoire de génomique biomédicale et oncogénétique, Institut Pasteur de Tunis, Tunisie., Derouiche K; Unité de recherche d'oculogénétique, Service B, Institut Hedi Rais d'ophtalmologie, Tunis, Tunisie., Turki A; Unité de recherche d'oculogénétique, Service B, Institut Hedi Rais d'ophtalmologie, Tunis, Tunisie, Laboratoire de génomique biomédicale et oncogénétique, Institut Pasteur de Tunis, Tunisie., Abdelhak S; Laboratoire de génomique biomédicale et oncogénétique, Institut Pasteur de Tunis, Tunisie., El Matri L; Unité de recherche d'oculogénétique, Service B, Institut Hedi Rais d'ophtalmologie, Tunis, Tunisie.

Publikováno v: Annales de biologie clinique [Ann Biol Clin (Paris)] 2013 Nov-Dec; Vol. 71 (6), pp. 645-51.