Elsaid MF - Search Results

1

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.

Elsaid MF, Kamel H, Chalhoub N, Aziz NA, Ibrahim K, Ben-Omran T, George B, Al-Dous E, Mohamoud Y, Malek JA, Ross ME, Aleem AA. Elsaid MF, et al. Am J Med Genet A. 2014 Jun;164A(6):1614-7. doi: 10.1002/ajmg.a.36485. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668585 No abstract available.

2

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.

Elsaid MF, Chalhoub N, Ben-Omran T, Kumar P, Kamel H, Ibrahim K, Mohamoud Y, Al-Dous E, Al-Azwani I, Malek JA, Suhre K, Ross ME, Aleem AA. Elsaid MF, et al. Ann Neurol. 2017 Jan;81(1):68-78. doi: 10.1002/ana.24826. Ann Neurol. 2017. PMID: 27863452

3

W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.

Elsaadany L, El-Said M, Ali R, Kamel H, Ben-Omran T. Elsaadany L, et al. BMC Med Genet. 2016 Aug 5;17(1):53. doi: 10.1186/s12881-016-0317-z. BMC Med Genet. 2016. PMID: 27495153 Free PMC article.

4

Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.

Elsaid MF, Chalhoub N, Ben-Omran T, Kamel H, Al Mureikhi M, Ibrahim K, Elizabeth Ross M, Abdel Aleem AK. Elsaid MF, et al. Clin Genet. 2018 Feb;93(2):387-391. doi: 10.1111/cge.13122. Epub 2017 Dec 20. Clin Genet. 2018. PMID: 28787085

5

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.

Elsaid MF, Ibrahim K, Chalhoub N, Elsotouhy A, El Mudehki N, Abdel Aleem A. Elsaid MF, et al. BMC Med Genet. 2017 Mar 21;18(1):33. doi: 10.1186/s12881-017-0395-6. BMC Med Genet. 2017. PMID: 28327087 Free PMC article.

6

New subtype of familial intracranial calcification in a mother and two children.

Elsaid MF, Crow YJ, Livingston JH, Ben-Omran T. Elsaid MF, et al. Am J Med Genet A. 2010 Apr;152A(4):943-6. doi: 10.1002/ajmg.a.33360. Am J Med Genet A. 2010. PMID: 20358605

7

Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?

Elsaid MF, Chalhoub N, Kamel H, Ehlayel M, Ibrahim N, Elsaid A, Kumar P, Khalak H, Ilyin VA, Suhre K, Abdel Aleem A. Elsaid MF, et al. Clin Genet. 2016 Feb;89(2):210-6. doi: 10.1111/cge.12657. Epub 2015 Sep 29. Clin Genet. 2016. PMID: 26285796

8

Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance.

Kumar P, Al-Shafai M, Al Muftah WA, Chalhoub N, Elsaid MF, Aleem AA, Suhre K. Kumar P, et al. Among authors: elsaid mf. BMC Res Notes. 2014 Oct 22;7:747. doi: 10.1186/1756-0500-7-747. BMC Res Notes. 2014. PMID: 25339461 Free PMC article.

9

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Lakhani S, Doan R, Almureikhi M, Partlow JN, Al Saffar M, Elsaid MF, Alaaraj N, James Barkovich A, Walsh CA, Ben-Omran T. Lakhani S, et al. Among authors: elsaid mf. Eur J Med Genet. 2017 May;60(5):245-249. doi: 10.1016/j.ejmg.2017.02.006. Epub 2017 Feb 27. Eur J Med Genet. 2017. PMID: 28254648 Free PMC article.

10

Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.

Abdel Aleem A, Elsaid MF, Chalhoub N, Chakroun A, Mohamed KAS, AlShami R, Kuzu O, Mohamed RB, Ibrahim K, AlMudheki N, Osman O, Ross ME, ELalamy O. Abdel Aleem A, et al. Among authors: elsaid mf. Neuromuscul Disord. 2020 Jun;30(6):457-471. doi: 10.1016/j.nmd.2020.03.009. Epub 2020 Apr 17. Neuromuscul Disord. 2020. PMID: 32444167

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