Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Autor: Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)

Loss of the cadherin FAT1 has been associated with nephropathy and epithelial cell adhesion defects. Here, the authors report five families with a syndromic form of coloboma associated with homozygous frameshift variants in FAT1 and recapitulate the

Externí odkaz: https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3

Dacryoadenite tuberculeuse bilatérale: à propos d'un cas

Autor: Bekkay Rezzoug, Nazih Tzili, Hassan Ali, Oubaida Elyamouni, Mahfoud El Khaoua, Hamza Elorch, Redouane El Hlimi, Abdallah El Hassan, Amina Berraho

Publikováno v: The Pan African Medical Journal, Vol 20, Iss 26 (2015)

La dacryoadénite tuberculeuse est une inflammation rare de la glande lacrymale causé par le bacille Mycobacterium tuberculosis. Elle pose un problème étiopathogénique et diagnostique. Nous rapportons dans cette observation le cas d'une dacryoad�

Externí odkaz: https://doaj.org/article/69a5d1c04d644c23ae28f364f0f9513b

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report

Autor: Imane Cherkaoui Jaouad, Khalid Sadki, Amina Berraho, Hamza Elorch, Abdelali Zrhidri, Yahya Benbouchta, Jaber Lyahyai, Mouna Ouhenach, Habiba Tazi, Abdelaziz Sefiani

Publikováno v: BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)

Background Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large variability in the age of onset, ev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a942902b61dd20dde7c9da009bd149e
http://europepmc.org/articles/PMC7789668

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene

Autor: Imane Cherkaoui Jaouad, Amina Berraho, Ilham Ratbi, Mustapha Elalloussi, Nada Al-Sheqaih, Jaber Lyahyai, Hamza Elorch, Abdelaziz Sefiani, William G. Newman

Publikováno v: Ratbi, I, Jaouad, I C, Elorch, H, Alsheqaih, N, Elalloussi, M, Lyahyai, J, Berraho, A, Newman, W & Sefiani, A 2016, ' Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene. ', European journal of medical genetics, vol. 59, no. 10, pp. 507-511 . https://doi.org/10.1016/j.ejmg.2016.09.004

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::106abd95ec7dc93c17d9f6d708b7ba1d
https://doi.org/10.1016/j.ejmg.2016.09.004

Corps étranger métallique intra-orbitaire : à propos d’un cas

Autor: S. Harchali, Amina Berraho, M R Elhassani, A. El Hassan, S. Azennoud, S Elmerrouni, H Bouchama, M. Zarrouki, M Elyadari, Hamza Elorch

Publikováno v: Journal Français d'Ophtalmologie. 41:e205-e206

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4d211ffec60d6b66738df1eb5074802c
https://doi.org/10.1016/j.jfo.2017.06.029