Výsledky vyhledávání - "Manar Samman"

Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease

Autor: Monis Bilal Shamsi, Ali Alasmari, Mohamed Saleh, Makki Almuntashri, Manar Samman, Fatima Al-Fadhli, Eissa Faqeih, Naif A.M. Almontashiri, Roy W A Peake, Essa Alharby

Publikováno v: Journal of Human Genetics. 66:689-695

Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing los

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a86f72606c5b8627246253f53a8eb621
https://doi.org/10.1038/s10038-021-00904-2

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Progressive Ataxia and Neurologic Regression in

Autor: Essa, Alharby, Mona, Obaid, Mohammed A O, Elamin, Makki, Almuntashri, Ismail, Bakhsh, Manar, Samman, Roy W A, Peake, Ali, Alasmari, Naif A M, Almontashiri

Publikováno v: Neurology: Genetics
article-version (Version of Record) 3

Objective To identify the genetic cause of a late-onset immunodeficiency and subacute progressive neurodegenerative disease affecting cognition, motor, visual, and cerebellar systems in a patient with a family history of 2 younger siblings with an ea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f40bb0b52dc462ba5c1000bdcb778556
https://pubmed.ncbi.nlm.nih.gov/33855173

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Expanding the phenotype of SLC25A42 -associated mitochondrial encephalomyopathy

Autor: Hanan E. Shamseldin, Eissa Faqeih, A. Alqasmi, Fowzan S. Alkuraya, Y.I. Aljadhai, F. Al Mutairi, Mohammed Almannai, William J. Craigen, Manar Samman, Ali Alasmari, Maha Alotaibi, Wafaa Eyaid

Publikováno v: Clinical Genetics. 93:1097-1102

SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Coenzyme A into the mitochondrial matrix. A mutation in this gene was recently reported in a subject born to consanguineous parents who presented with mitochondrial myopathy w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::465908af806ee1b64ef2c67b05df4fd2
https://doi.org/10.1111/cge.13210

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Further delineation of METTL23-associated intellectual disability

Autor: Manar Samman, Osama A. Obaid, Hailey Pinz, Stephen R. Braddock, Mohammed Almannai, Ali Alasmari, Eissa Faqeih, Fowzan S. Alkuraya

Publikováno v: American journal of medical genetics. Part AREFERENCES. 182(4)

METTL23 belongs to a family of methyltransferase like proteins (METTL) that transfer methyl group to various substrates. Recently, pathogenic homozygous variants in METTL23 were identified in patients from three families who presented with intellectu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e56c203ac9002e761ad255289555322
https://pubmed.ncbi.nlm.nih.gov/32067349

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Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome

Autor: Mohammed A. O. Elamin, Ismail Bakhsh, Ali Alasmari, Mona Obaid, Manar Samman, Makki Almuntashri, Roy W A Peake, Essa Alharby, Naif A.M. Almontashiri

Publikováno v: Neurology Genetics. 7:e586

ObjectiveTo identify the genetic cause of a late-onset immunodeficiency and subacute progressive neurodegenerative disease affecting cognition, motor, visual, and cerebellar systems in a patient with a family history of 2 younger siblings with an ear

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::deee376251d4ad2fd2db47161876997d
https://doi.org/10.1212/nxg.0000000000000586

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A novel genomic signature reclassifies an oral cancer subtype

Publikováno v: International Journal of Cancer. 137:2364-2373

Verrucous carcinoma of the oral cavity (OVC) is considered a subtype of classical oral squamous cell carcinoma (OSCC). Diagnosis is problematic, and additional biomarkers are needed to better stratify patients. To investigate their molecular signatur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e335f489c5be5daab21d5b6d1a799a7d
https://doi.org/10.1002/ijc.29615

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Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy

Autor: Mohammed M. Saleh, Eissa Faqeih, Mohammed Almannai, Fowzan S. Alkuraya, Ali H Alwadei, Manar Samman

Publikováno v: Clinical genetics. 93(5)

The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with 2 pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygoti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b4b4e217a187a6a1877bec9ee2475c
https://pubmed.ncbi.nlm.nih.gov/29406573

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A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder

Autor: Mohammed A Salih, Manar Samman, Hanan E. Shamseldin, Niema Ibrahim, Shahid A Mian, Fowzan S. Alkuraya, Eissa Faqeih, Futwan Al-Mohanna, Tarfa Alshidi, Ali Alasmari, Mais Hashem

Publikováno v: Brain : a journal of neurology. 140(11)

Mitochondrial calcium homeostasis is a tightly controlled process that is required for a variety of cellular functions. The mitochondrial calcium uniporter complex plays a critical role in this process. MICU2 is a major component of the mitochondrial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf14002fe6d51c019cec0de1debf9f86
https://pubmed.ncbi.nlm.nih.gov/29053821

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