Výsledky vyhledávání

The Spectrum of MEFV Mutations in an Arabic Cohort

Autor: Abdulghani Khilan, Jamil Alami, Suhail Ayesh, Dina Ahram, Rowaida Z. Taha, Hatem El-Shanti

Publikováno v: Qatar Foundation Annual Research Forum Proceedings. :BMP61

Background: Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. Familial Mediterranean Fever (FMF) is an autosomal recessive di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca99345e88e76a4c27381b57b18fe4e9
https://doi.org/10.5339/qfarf.2011.bmp61

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The Assignment of the Gene Responsible for Congenital Cataract and Micropthalmia to the Pericentromeric Region of the X Chromosome and Examination of Candidate Genes

Autor: Diana Mina, V. Chini, Hatem El-Shanti, Jamil Alami

Publikováno v: Qatar Foundation Annual Research Forum Proceedings. :BMP60

Background: X-linked diseases are single gene disorders that are due to the presence of mutations in genes that reside on the X chromosome. X-linked recessive disorders are predicted from the family structure, where only boys are affected and there i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a1c328fbfbd58e981bcd291d322f20ef
https://doi.org/10.5339/qfarf.2011.bmp60

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Gene Identification in Autosomal Recessive Forms of Familial Epilepsy

Autor: Yasser Elsarraj, Jamil Alami, Mohamed Abdulla Eldaw, Hatem El-Shanti, Hala M. Mint El Moctar

Publikováno v: Qatar Foundation Annual Research Forum Proceedings. :BMP65

Background: Epilepsy is a disorder of the brain characterized by an enduring predisposition to generate recurrent epileptic seizures, as well as, the neurobiologic, cognitive, psychological, and social consequences. The estimated proportion of the ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::76c3c87504a90f40a88a20bc72a453c6
https://doi.org/10.5339/qfarf.2011.bmp65

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Characterization of the LPIN2 Gene and its Protein and Examination of its Role in Psoriasis

Autor: Fatma Abdallah, Hatem El-Shanti, Mazen Osman, Jamil Alami, Hanan Abu Nada, Yasmin Walid Abu aqel

Publikováno v: Qatar Foundation Annual Research Forum Proceedings. :BMP63

Psoriasis is a chronic inflammatory skin disease posing a considerable worldwide health problem due to its high prevalence, associated morbidity and high health-care costs. It is a multifactorial “complex” disorder, with compelling evidence for a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bec086919855e870afc81d2841a28cf2
https://doi.org/10.5339/qfarf.2011.bmp63

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Discovery of a Probable Gene Mutation Causing Mental Retardation, Microsomia, and Signs of Skeletal Dysplasia in an Arab Family with a Previously Undelineated Autosomal Recessive Disorder

Autor: Mazen Osman, Jamil Alami, Hatem El-Shanti, Ghing Billedo, Yasser Al-Sarraj, Samiha Zaineddin

Publikováno v: Qatar Foundation Annual Research Forum Proceedings. :BMP62

Background: Autosomal recessive diseases are considered as a major group of single-gene disorders among Arab population. We have recruited a family with three siblings with a mental retardation (MR) syndrome who were born to consanguineous Qatari par

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::23d4c7d8c808f609ea435b4aeb5075ff
https://doi.org/10.5339/qfarf.2011.bmp62

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Atypical Rett syndrome diagnosis by molecular testing

Autor: Chini Vasiliki, Jamil Alami, Zakaria Elsayed

Publikováno v: Qatar Foundation Annual Research Forum Proceedings. :BMP28

Rett syndrome is a neurodevelopmental disorder that leads to regression in language and motor skills. In most cases, it is caused by genetic mutations in the methyl-CpG-binding protein 2 gene (MECP2). Rett Syndrome occurs almost exclusively in girls

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1444aed6afc1bcc09bf9f3b6c9071cec
https://doi.org/10.5339/qfarf.2010.bmp28

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Characterization of the LPIN2 gene and its protein and examination of its role in psoriasis

Autor: Mazen Osman, Goda Sayed, Jamil Alami, Hatem El Shanti

Publikováno v: Qatar Foundation Annual Research Forum Proceedings. :BMP13

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::56f9bb3f9c91ab02b1c36f8ac24a0577
https://doi.org/10.5339/qfarf.2010.bmp13

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Mutations in IL1RN in bone and skin inflammation

Autor: Nammat Khattab, Asma Al Dosari, Hatem El Shanti, Suad Al Dosari, Mazan Osman, Jamil Alami

Publikováno v: Qatar Foundation Annual Research Forum Proceedings. :BMP20

Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. They include familial Mediterranean fever; the tumor necrosis factor recept

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d90b90b6c2f532acdf0ef550332f97c1
https://doi.org/10.5339/qfarf.2010.bmp20

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The spectrum of Mediterranean fever (MEFV) mutations in an Arabic cohort

Autor: Djouher Ait Idir, Mohammed El Khateeb, Abdulghani Kohilan, Rowaida Z. Taha, Jamil Alami, Hassan Abdel Majeed, Hatem El Shanti, Dina Ahram

Publikováno v: Qatar Foundation Annual Research Forum Proceedings. :BMP9

Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. Familial Mediterranean fever (FMF) is an autosomal recessive disorder and t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5a126f9bb4ba7a9f9829b46c3ee25815
https://doi.org/10.5339/qfarf.2010.bmp9

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