Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

Autor: Andreas Gal, Daniel F. Schorderet, Debra A. Thompson, Elsebet Østergaard, Susanne Fehr, Ibtissem Chouchane, Josefine Fuchs, Isabella Rau, Monika Rehbein, Thomas Rosenberg, Yun Li, Kaj Vilhelmsen, K. Baklouti, Hans-Jürgen Kreienkamp, Francis L. Munier, Hans C. Fledelius, Leila El Matri

Publikováno v: American journal of human genetics

Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal-recessive form (arMCOP) of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86d927ed6a4a3893a80e46b55b49faaa

Les décollements de rétine rhegmatogènes inférieurs : particularités cliniques et thérapeutiques

Autor: K. Baklouti, Fatma Mghaieth, R. Bouraoui, L. El Matri, A. Merdassi, C. Guendil

Publikováno v: Journal Français d'Ophtalmologie. 29:494-500

But Determiner les facteurs epidemiologiques et cliniques incrimines dans la genese du decollement de retine rhegmatogene inferieur et proposer un schema therapeutique. Patients et methodes Il s’agit d’une etude retrospective type cas-temoin port

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6ef91e3652d38cfd7fc2cda2aa2938f3
https://doi.org/10.1016/s0181-5512(06)73802-5

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Autor: Sonia Nouira, Ahmed Rebai, K. Derouiche, K. Baklouti, A. Merdassi, Houyem Ouragini, Francis L. Munier, Leila Tiab, Daniel F. Schorderet, Farah Ouechtati, Yosra Bouyacoub, Sonia Abdelhak, Leonidas Zografos, Leila El Matri, L. Largueche

Publikováno v: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2011, 56 (1), pp.22-8. ⟨10.1038/jhg.2010.128⟩
Journal of human genetics

Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones functi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecc94c6ce73d19aac005d0c0a9917d92
https://hal-riip.archives-ouvertes.fr/pasteur-00604858

[Visual loss after spine surgery. Imaging findings]

Autor: R, Ben Khelifa El Moncer, A, Daghfous, S, Felah, M, Maarouf, K, Baklouti, L, Rezgui-Marhoul

Publikováno v: Journal francais d'ophtalmologie. 35(3)

Postoperative visual loss is a rare but disastrous complication that can be observed after spinal surgery. We report the case of a 39-year-old woman involved in a traffic accident that caused trauma to the cervical spine causing right hemiplegia, who

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ba114f4af2e1f892667ea11464aa03fd
https://pubmed.ncbi.nlm.nih.gov/22015069

Genetic and phenotypic analyses of retinitis pigmentosa in northern Tunisia

Autor: L. El Matri, K. Baklouti, A. Merdassi, A. Chebil, I. Chouchene, L. Largueche, Sonia Abdelhak

Publikováno v: Acta Ophthalmologica. 87

Purpose To describe the different types of retinitis pigmentosa (RP) in Northern Tunisia and to determine the genetic form. Methods A prospective non-comparative study was conducted. Different forms of RP disease were diagnosed in 99 patients from 56

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eba9b8eb01cdef202cfedd5099df276c
https://doi.org/10.1111/j.1755-3768.2009.250.x