Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3

Autor: Syrine Hizem, Rym Maamouri, Anissa Zaouak, Imen Rejeb, Sana Karoui, Molka Sebai, Houweyda Jilani, Yasmina Elaribi, Sami Fenniche, Monia Cheour, Frédéric Bilan, Lamia Ben Jemaa

Publikováno v: Ophthalmic Genetics. :1-11

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::841418f3e6d9162500534ec0d5feee64
https://doi.org/10.1080/13816810.2023.2206891

The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study

Autor: Ortopedics n.a. G.A. Ilizarov, Kurgan, Russia, H. Sassi, Mohammad Shboul, Ali Al Kaissi, Marwa Hilmi, Susanna Gerit Kircher, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Lamia Ben Jemaa, Houweyda Jilani

Publikováno v: AIMS Molecular Science. 8:76-85

Objective Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant type II collagenopathies characterized by skeletal dysplasia, short stature, and with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d6eb13408cf860b6243246ac2a375e95
https://doi.org/10.3934/molsci.2021006

Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing

Autor: Sana Ben Slama, Soumeya Bekri, Molka Sebai, Lamia Ben Jemaa, Kawther Dimassi, Houweyda Jilani, Imen Rejeb, Yasmina Elaribi, Syrine Hizem

Publikováno v: Clinica chimica acta; international journal of clinical chemistry. 513

Non-Immune Hydrops Fetalis (NIHF) is an intrauterine condition characterized by excessive fluid accumulation in at least two fetal compartments in the absence of maternal circulating red cell antibodies. It is associated with a poor prognosis and a w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::172f5256cc609e7d2bd5d877c167eac6
https://pubmed.ncbi.nlm.nih.gov/33382994

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Autor: François Artiguenave, Jamel Chelly, Bettina Bessières, Imen Rejeb, Catherine Fallet-Bianco, Giuseppe Muraca, Catheline Vilain, Adrienne Elmorjani, Nadia Bahi-Buisson, Nicolas Lebrun, Hélène Maurey, Julia Lauer Zillhardt, Sylvie Odent, Yuri Musizzano, Karine Poirier, Nicole Philip, David Geneviève, Cécile Masson, Stanislas Lyonnet, Yoann Saillour, Robert Olaso, Jelena Martinovic, Jean-François Deleuze, Lucile Pinson, Lamia Ben Jemaa, François Rivier, Juliette Nectoux, Patrick Van Bogaert, Anne Boland, Fabienne Giuliano, Patrick Nitschke, Loic Broix, Nicolas Leboucq, Cherif Beldjord, Nicole Bigi, Olivier Dulac

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩
European Journal of Human Genetics, 2016, 24 (4), pp.611--614. ⟨10.1038/ejhg.2015.192⟩
European journal of human genetics: EJHG
European journal of human genetics: EJHG, 2016, 24 (4), pp.611--614. 〈10.1038/ejhg.2015.192〉

International audience; To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Int

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee22a5e993baf359272d5a22b52a26ee
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01313739

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation

Autor: Jamel Chelly, Lamia Ben Jemaa, Leila Abaied, Faouzi Maazoul, Imen Rejeb, Lilia Kraoua, Yoann Saillour, Habiba Chaabouni

Publikováno v: European Journal of Medical Genetics. 54:241-246

Mental retardation (MR) is the most frequent cause of serious handicap in children and young adults. Despite recent progress, in most cases the molecular defects underlying this disorder remain unknown. Linkage studies followed by mutational analysis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b91f05d54bb6296b442131fb5bdc421
https://doi.org/10.1016/j.ejmg.2011.01.010