Zobrazeno 41 - 50
of 52
pro vyhledávání: '"Siham Chafai Elalaoui"'
Autor:
Konstantinos Aliferis, David Neil Cooper, Stefania Gimelli, E. Kanavakis, Lorraine Gwanmesia, Sofia Kitsiou-Tzeli, Abdelaziz Sefiani, Frédérique Béna, Habiba Chaabouni Bouhamed, Helen Fryssira, Samia A. Temtamy, Stavroula Psoni, Nasir A. S. Al-Allawi, Hanan Hamamy, Georgios Stamoulis, Nadine Jalkh, André Mégarbané, Ebtesam M. Abdalla, Stylianos E. Antonarakis, Mari Nelis, Siham Chafai Elalaoui, Periklis Makrythanasis, Amira Masri, Siv Fokstuen, Lihadh Al-Gazali, Sana' Al Hait, Mariana Bustamante Eduardo, Michel Guipponi, Anne Vannier, Armand Bottani, Maha S. Zaki, Fatma Al-Jasmi, Federico Santoni, Mona Aglan, Elisavet Stathaki
Publikováno v:
Human Mutation, Vol. 35, No 10 (2014) pp. 1203-10
HUMAN MUTATION
HUMAN MUTATION
Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the offspring of consanguineous couples. Current routine diagnostic genetic tests fail to establish a diagnosis in many cases. We employed exome sequencing to identify
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe6dc06e32afdde6c2e01a74f3d03145
https://archive-ouverte.unige.ch/unige:42302
https://archive-ouverte.unige.ch/unige:42302
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 74:1092-1094
Hypoglossia is a rare congenital anomaly and is frequently associated with limb anomalies. In 1971, Hall employed the term hypoglossia-hypodactylia syndrome for the classification of these oromandibular-limb hypogenesis syndromes. The syndrome is cha
Publikováno v:
Revue Francophone des Laboratoires. 2009:83-85
Autor:
Benoit Arveiler, Guenaelle Lancelot, Didier Lacombe, Patricia Fergelot, Siham Chafai Elalaoui, Abdelaziz Sefiani, Mariam Tajir
Publikováno v:
Gene. 518(2)
Rubinstein-Taybi syndrome is an autosomal dominant disorder with multiple congenital anomalies and genetic heterogeneity. Clinical manifestations include mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and ch
Autor:
Yassamine, Doubaj, Fatima-Zahra, Laarabi, Siham Chafai, Elalaoui, Amina, Barkat, Abdelaziz, Sefiani
Publikováno v:
The Journal of dermatology. 39(4)
Xeroderma pigmentosum (XP) is an autosomal recessive inherited disease which is genetically heterogeneous. The prevalence of this genodermatosis is estimated to be 1/1 000 000 in the USA; it is more common in Japan and probably in other populations w
Autor:
Esteves-Vieira Vera, Annachiara De Sandre-Giovannoli, Mariam Tajir, Yassamine Doubaj, Claire Navarro, Abdelaziz Sefiani, Siham Chafai Elalaoui, Nicolas Lévy
Publikováno v:
American journal of medical genetics. Part A. (11)
Hutchinson-Gilford Progeria syndrome (HGPS) is a rare genetic disorder, characterized by several clinical features that begin in early childhood, recalling an accelerated aging process. The diagnosis of HGPS is based on the recognition of common clin
Autor:
Mariam Tajir, Abdelaziz Sefiani, Siham Chafai Elalaoui, Jean Baptiste Arnoux, Michèle Brivet, Audrey Boutron, Pascale de Lonlay
Publikováno v:
European journal of medical genetics. 55(10)
Pyruvate dehydrogenase deficiency is one of the genetic defects of mitochondrial energy metabolism. Clinical features are heterogeneous, ranging from fatal lactic acidosis in the newborn period to chronic neurodegenerative abnormalities. Most cases h
Autor:
Ilham, Ratbi, Siham Chafai, Elalaoui, Marie-Pierre, Moizard, Martine, Raynaud, Abdelaziz, Sefiani
Publikováno v:
The Turkish journal of pediatrics. 52(5)
Simpson-Golabi-Behmel Syndrome (SGBS) is a rare recessive X-linked disorder characterized by pre- and postnatal overgrowth, distinctive dysmorphic facies and variable congenital malformations. Most cases have been attributed to mutations in the Glypi
Autor:
Siham Chafai Elalaoui, Céline Liger, Lilia Kraoua, Abdelaziz Sefiani, Ilham Ratbi, Hélène Cavé
Publikováno v:
American journal of medical genetics. Part A. (11)
Noonan syndrome (NS; OMIM 163950) is an autosomal dominant disorder with variable clinical expression and genetic heterogeneity. Clinical manifestations include characteristic facial features, short stature, and cardiac anomalies. Mutations in protei
Autor:
A Vanier, Amira Masri, Emilie Falconnet, Nadine Jalkh, Stylianos E. Antonarakis, Armand Bottani, Hanan Hamamy, Fatma Al-Jasmi, G Duriaux-Sail, Mari Nelis, Siv Fokstuen, Elisavet Stathaki, S Al-Hait, Stefania Gimelli, Periklis Makrythanasis, Siham Chafai Elalaoui, Mona Aglan, Sophia Kitsiou, E. Kanavakis, Federico Santoni, Lihadh Al-Gazali, N All-Allawi, Michel Guipponi, H Frissyra, Abdelaziz Sefiani, Frédérique Béna, Samia A. Temtamy, Stavroula Psoni, André Mégarbané, H Chaabouni Bouhamed, Maha S. Zaki
Publikováno v:
Archives of Disease in Childhood. 97:A121-A121
Consanguinity and inbreeding increase the sharing of alleles among individuals; thus a considerable number of autosomal recessive phenotypes occur in offspring(s) of consanguineous couples. We have collected samples from consanguineous families with