Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Fatima Zahra Laarabi"'
Autor:
Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain. It is the most frequent subtype of c
Externí odkaz:
https://doaj.org/article/1e269c2d80634cc7a78c86be9f9b1a76
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
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-4 (2018)
Abstract Background Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal re
Externí odkaz:
https://doaj.org/article/7bbff0d1da3e4a078ccaa1b6e394eb56
Publikováno v:
Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-4 (2017)
Abstract Background Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been ass
Externí odkaz:
https://doaj.org/article/212d9dc704324fb5841cb5f98bcef25a
Autor:
Fatima-Zahra Laarabi, Ilham Ratbi, Siham Chafai Elalaoui, Loubna Mezzouar, Yassamine Doubaj, Laila Bouguenouch, Karim Ouldim, Noureddine Benjaafar, Abdelaziz Sefiani
Publikováno v:
BMC Research Notes, Vol 10, Iss 1, Pp 1-5 (2017)
Abstract Background To date, a limited number of BRCA1/2 germline mutations have been reported in hereditary breast and/or ovarian cancer in the Moroccan population. Less than 20 different mutations of these two genes have been identified in Moroccan
Externí odkaz:
https://doaj.org/article/7a13207686c44ca9826f149c3399b289
Autor:
Hakima Missoum, Najlae Adadi, Mohammed Alami, Hamza Toufik, Abdelhakim Bouyahya, Fatima-Zahra Laarabi, Fatima Bachir, Abdellah El Maghraoui, Youssef Bakri
Publikováno v:
Pan African Medical Journal; Vol. 41 No. 1 (2022)
Introduction:rheumatoid arthritis (RA) is a systemic autoimmune disease primarily affecting the joints. Arthritic disorders are associated with mutations of the Mediterranean fever (MEFV) gene. The aim of this study is to show whetherMEFVmutations wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=78975075580c::fd4fe702f30b4ad9888ecb9e3c4aedb8
https://www.ajol.info/index.php/pamj/article/view/238463
https://www.ajol.info/index.php/pamj/article/view/238463
Autor:
Bernd Wollnik, Siham Chafai Elalaoui, Kapil Bharti, Connie R. Bezzina, Najim Lahrouchi, Ruchi Sharma, Amina Berraho, Najlae Adadi, Abdelaziz Sefiani, Janine Altmueller, Stanislas Lyonnet, Mones Abu-Asab, Alessandro Plebani, Vardiella Meiner, Felix Onojafe, Sanita Bharti, Yassine Lamsyah, Friedhelm Hildebrandt, Helen McNeill, Ronen Schneider, Alexandra Henrion-Caude, Hamza Elorch, Fatima-Zahra Laarabi, Imane Chebbar, Ilham Ratbi, Elisabeth M. Lodder, Alex V. Postma, Brian P. Brooks, Aman George, Shahida Moosa, Henriette Kyrieleis, Vassilios Lougaris
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature communications, 10(1). Nature Publishing Group
Nature Communications
Nature communications, 10(1). Nature Publishing Group
Nature Communications
A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropathy, associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813282bd9ed009737dce5ec983af210b
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3
Autor:
Hakima, Missoum, Najlae, Adadi, Mohammed, Alami, Hamza, Toufik, Abdelhakim, Bouyahya, Fatima-Zahra, Laarabi, Fatima, Bachir, Abdellah El, Maghraoui, Youssef, Bakri
Publikováno v:
The Pan African medical journal. 41
rheumatoid arthritis (RA) is a systemic autoimmune disease primarily affecting the joints. Arthritic disorders are associated with mutations of the Mediterranean fever (MEFV) gene. The aim of this study is to show whether MEFV mutations will be invol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::179dc4e587ff12890b49110e78bc9e98
https://pubmed.ncbi.nlm.nih.gov/35480407
https://pubmed.ncbi.nlm.nih.gov/35480407
Autor:
Siham Chafai Elalaoui, Fatima Zahra Laarabi, Imane Cherkaoui Jaouad, Abdelaziz Sefiani, Stanislas Lyonnet, Alexandra Henrion-Caude
Publikováno v:
Molecular Syndromology. 6:77-82
Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder which is characterized by bone metaphysis anomalies with manifestations that include short stature, defective cellular immunity, and predisposition to several cancers. It is caused by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0dc6cc087f9ba7c95e6dfc51359fb96f
https://doi.org/10.1159/000430970
https://doi.org/10.1159/000430970
Autor:
Fatima Zahra Laarabi, Farah Jouali, Ilham Ratbi, Houria Rhaissi, Siham Chafai Elalaoui, Nabila Marchoudi, Jamal Fekkak, Abdelaziz Sefiani
At present, breast cancer is the most common type of cancer in females. The majority of cases are sporadic, but 5-10% are due to an inherited predisposition to develop breast and ovarian cancers, which are transmitted as an autosomal dominant form wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce5de7d05275af455a61d105b495cd9
https://europepmc.org/articles/PMC4950805/
https://europepmc.org/articles/PMC4950805/
