Sakati N - Search Results

1

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.

Ramzan K, Al-Numair NS, Al-Ageel S, Elbaik L, Sakati N, Al-Hazzaa SAF, Al-Owain M, Imtiaz F. Ramzan K, et al. Among authors: sakati n. Genes (Basel). 2020 Dec 9;11(12):1474. doi: 10.3390/genes11121474. Genes (Basel). 2020. PMID: 33316915 Free PMC article.

2

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

Al-Qattan MM, Andejani DF, Sakati NA, Ramzan K, Imtiaz F. Al-Qattan MM, et al. Among authors: sakati na. BMC Med Genet. 2018 Jan 30;19(1):18. doi: 10.1186/s12881-018-0531-y. BMC Med Genet. 2018. PMID: 29378527 Free PMC article.

3

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA. Khalifa O, et al. Among authors: sakati n. Am J Med Genet A. 2014 Oct;164A(10):2601-6. doi: 10.1002/ajmg.a.36681. Epub 2014 Jul 29. Am J Med Genet A. 2014. PMID: 25073711

4

25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations.

Bakhamis S, Imtiaz F, Ramzan K, De Vol E, Al-Sagheir O, Al-Rajhi A, Alashwal A, Bin Abbas B, Sakati N, Al-Sagheir A. Bakhamis S, et al. Among authors: sakati n. Endocr Connect. 2021 Jul 17;10(7):767-775. doi: 10.1530/EC-21-0102. Endocr Connect. 2021. PMID: 34137732 Free PMC article.

5

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.

Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M. Khalifa O, et al. Among authors: sakati n. J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. J Med Genet. 2012. PMID: 22499343 No abstract available.

6

Smith-Lemli-Opitz syndrome among Arabs.

Al-Owain M, Imtiaz F, Shuaib T, Edrees A, Al-Amoudi M, Sakati N, Al-Hassnan Z, Bamashmous H, Rahbeeni Z, Al-Ameer S, Faqeih E, Meyer B, Al-Hashem A, Garout W, Al-Odaib A, Rashed M, Al-Aama JY. Al-Owain M, et al. Among authors: sakati n. Clin Genet. 2012 Aug;82(2):165-72. doi: 10.1111/j.1399-0004.2011.01742.x. Epub 2011 Jul 18. Clin Genet. 2012. PMID: 21696385

7

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.

Kaya N, Imtiaz F, Colak D, Al-Sayed M, Al-Odaib A, Al-Zahrani F, Al-Mubarak BR, Al-Owain M, Al-Dhalaan H, Chedrawi A, Al-Hassnan Z, Coskun S, Sakati N, Ozand P, Meyer BF. Kaya N, et al. Among authors: sakati n. Genet Med. 2008 Sep;10(9):675-84. doi: 10.1097/gim.0b013e31818337a8. Genet Med. 2008. PMID: 18978679 Free article.

8

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

Patel N, Shamseldin HE, Sakati N, Khan AO, Softa A, Al-Fadhli FM, Hashem M, Abdulwahab FM, Alshidi T, Alomar R, Alobeid E, Wakil SM, Colak D, Alkuraya FS. Patel N, et al. Among authors: sakati n. Am J Hum Genet. 2017 May 4;100(5):831-836. doi: 10.1016/j.ajhg.2017.04.008. Am J Hum Genet. 2017. PMID: 28475863 Free PMC article.

9

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM. Altassan R, et al. Among authors: sakati n. Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120. Am J Med Genet A. 2017. PMID: 28328124

10

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

Shaheen R, Al-Owain M, Sakati N, Alzayed ZS, Alkuraya FS. Shaheen R, et al. Among authors: sakati n. Am J Hum Genet. 2010 Aug 13;87(2):306-7; author reply 308. doi: 10.1016/j.ajhg.2010.05.020. Am J Hum Genet. 2010. PMID: 20696291 Free PMC article. No abstract available.

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