Faqeih E - Search Results

1

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: faqeih e. 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

2

Meier-Gorlin (ear-patella-short stature) syndrome: growth hormone deficiency and previously unrecognized findings.

Faqeih E, Sakati N, Teebi AS. Faqeih E, et al. Am J Med Genet A. 2005 Sep 1;137A(3):339-41. doi: 10.1002/ajmg.a.30899. Am J Med Genet A. 2005. PMID: 16088921 No abstract available.

3

Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: a possible new autosomal recessive syndrome.

Faqeih E, Al-Akash SI, Sakati N, Teebi PA. Faqeih E, et al. Am J Med Genet A. 2007 Sep 1;143A(17):1951-7. doi: 10.1002/ajmg.a.31898. Am J Med Genet A. 2007. PMID: 17663471

4

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS. Shaheen R, et al. Among authors: faqeih e. Am J Med Genet A. 2011 Jun;155A(6):1448-52. doi: 10.1002/ajmg.a.34025. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567934

5

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: faqeih e. 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

6

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Shaheen R, et al. Among authors: faqeih e. Am J Hum Genet. 2011 Aug 12;89(2):328-33. doi: 10.1016/j.ajhg.2011.07.009. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820096 Free PMC article.

7

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.

Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi N, Mousa N, Alsinani A, Ansari S, Alzahrani F, Al-Owain M, Alzayed ZS, Alkuraya FS. Shaheen R, et al. Among authors: faqeih e. J Med Genet. 2012 Oct;49(10):630-5. doi: 10.1136/jmedgenet-2012-101142. J Med Genet. 2012. PMID: 23054245

8

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-González AM, Abdel-Salam G, Temtamy S, Alkuraya FS. Shaheen R, et al. Among authors: faqeih e. Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21. Am J Hum Genet. 2013. PMID: 23522784 Free PMC article.

9

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

Al-Hamed MH, Al-Sabban E, Al-Mojalli H, Al-Harbi N, Faqeih E, Al Shaya H, Alhasan K, Al-Hissi S, Rajab M, Edwards N, Al-Abbad A, Al-Hassoun I, Sayer JA, Meyer BF. Al-Hamed MH, et al. Among authors: faqeih e. J Hum Genet. 2013 Jul;58(7):480-9. doi: 10.1038/jhg.2013.27. Epub 2013 Apr 18. J Hum Genet. 2013. PMID: 23595123

10

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

Faqeih EA, Al-Owain M, Colak D, Kenana R, Al-Yafee Y, Al-Dosary M, Al-Saman A, Albalawi F, Al-Sarar D, Domiaty D, Daghestani M, Kaya N. Faqeih EA, et al. Am J Med Genet A. 2014 Jun;164A(6):1565-70. doi: 10.1002/ajmg.a.36482. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668509

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