Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Mariam Ballow"'
1
Akademický článek
Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features
Autor: Fuad Al Mutairi, Faisal Joueidi, Maha Alshalan, Essra Aloyouni, Mariam Ballow, Mohammed Aldrees, Abdulkareem Al Abdulrahman, Abeer Al Tuwaijri, Safdar Abbas, Muhammad Umair, Majid Alfadhel
Publikováno v: Heliyon, Vol 10, Iss 15, Pp e35361- (2024)
Background: HMGXB4 (additionally known as HMG2L1) is a non-histone DNA-binding protein that contains a single HMG-box domain. HMGXB4 was originally described in Xenopus where it was seen to negatively regulate the Wnt/β-catenin signaling pathway. Ma
Externí odkaz: https://doaj.org/article/981d10349b2d4a7aa25dc99fabcd779c
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2
Akademický článek
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype
Autor: Abeer Al Tuwaijri, Yusra Alyafee, Muhammad Umair, Arwa Alsubait, Mashael Alharbi, Hamad AlEidi, Mariam Ballow, Mohammed Aldrees, Qamre Alam, Abdulkareem Al Abdulrahman, Muhammad Talal Alrifai, Majid Alfadhel
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)
Abstract Background Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. Variants in the FCSK gene have been reported to cause CDG. Defective FCSK‐induced CDG (FCSK–
Externí odkaz: https://doaj.org/article/749d1d3869cd49fbb491ca3b51a3fe3b
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3
Akademický článek
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening
Autor: Majid Alfadhel, Muhammad Umair, Bader Almuzzaini, Saif Alsaif, Sulaiman A. AlMohaimeed, Maher A. Almashary, Wardah Alharbi, Latifah Alayyar, Abdulrahman Alasiri, Mariam Ballow, Abdulkareem AlAbdulrahman, Monira Alaujan, Marwan Nashabat, Ali Al‐Odaib, Waleed Altwaijri, Ahmed Al‐Rumayyan, Muhammad T. Alrifai, Ahmed Alfares, Mohammed AlBalwi, Brahim Tabarki
Publikováno v: Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 2097-2103 (2019)
Abstract Background Biotin–thiamine‐responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and
Externí odkaz: https://doaj.org/article/96e539f8f7c14fda9b2b9706c9f85dd7
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4
Congenital disorder of glycosylation with defective fucosylation 2 ( FCSK gene defect): The third report in the literature with a mild phenotype
Autor: Abeer Al Tuwaijri, Yusra Alyafee, Muhammad Umair, Arwa Alsubait, Mashael Alharbi, Hamad AlEidi, Mariam Ballow, Mohammed Aldrees, Qamre Alam, Abdulkareem Al Abdulrahman, Muhammad Talal Alrifai, Majid Alfadhel
Publikováno v: Molecular Genetics & Genomic Medicine. 11
Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. Variants in the FCSK gene have been reported to cause CDG. Defective FCSK-induced CDG (FCSK-CDG) has only been repor
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b7925762c554bfa7957a20a5b7aa78
https://doi.org/10.1002/mgg3.2117
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5
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
Autor: Kheloud M. Alhamoudi, Abeer Al Tuwaijri, Senay Kafkas, Taghrid Aloraini, Muhammad Talal Alrifai, Mariam Ballow, Abdulaziz Asiri, Majid Alfadhel, Robert Hoehndorf, Ahmed Alfares, Marwa Abdelhakim, Yusra Alyafee, Muhammad Umair, Lamia Alsubaie, Azza Thamer Althagafi
Publikováno v: Clinical Genetics
In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID). The endoplasmic reticulum membrane protein complex (EMC) family is known to be involved in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dedb0e1a9e71ae4869d39a867aba8e4
http://europepmc.org/articles/PMC7756316
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6
Analysis of CCR5 gene polymorphisms in 321 healthy Saudis using Next Generation Sequencing
Autor: Ibrahim Alabdulkareem, Mohammed Aldrees, Abdulrahman AlAsiri, Wardah Alharbi, G. K. UdayaRaja, Ali Hadadi, Mariam Ballow, Mohammed Al Balwi, Abdulkareem AlAbdulrahman, Ali H. Hajeer
Publikováno v: Human Immunology. 78:384-386
Aims To investigate the extent of CCR5 polymorphism in the healthy Saudi population. Method A total of 321 healthy Saudi individuals were sequenced using the ion Ampliseq™ Exome kit (Life Technologies, USA) on genomic DNA following manufacturer’s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f0ec13da7eb33586e730016a26df54d
https://doi.org/10.1016/j.humimm.2017.03.003
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8
A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that 'apparent' Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS)
Autor: Mohammad M. Al-Qattan, Mariam Ballow, Ibrahim AlAbdulkareem, Mohammed Al Balwi
Publikováno v: Gene. 527(1)
Although there is a long list of syndromes with phocomelia, there are only two syndromes in which there is concurrent pelvic dysplasia and phocomelia: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Schinzel phocomelia syndrome (SPS). Currently, there
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1f93029d3f8debf0beaa81ca7c3d0f0
https://pubmed.ncbi.nlm.nih.gov/23727605
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