Al Swaid A[au] - Search Results

Year	Number of Results
2001	1
2002	1
2005	1
2006	1
2010	2
2011	3
2013	1
2014	1
2021	1
2024	0

1

Axial spondylometaphyseal dysplasia: additional reports.

Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G. Suzuki S, et al. Among authors: al swaid a. Am J Med Genet A. 2011 Oct;155A(10):2521-8. doi: 10.1002/ajmg.a.34192. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910225

2

Public attitude towards biomedical research at outpatient clinics of King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Al-Jumah M, Abolfotouh MA, Alabdulkareem IB, Balkhy HH, Al-Jeraisy MI, Al-Swaid AF, Al-Musaaed EM, Al-Knawy B. Al-Jumah M, et al. Among authors: al swaid af. East Mediterr Health J. 2011 Jun;17(6):536-45. East Mediterr Health J. 2011. PMID: 21796973 Free article.

3

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. Parisi MA, et al. Among authors: al swaid a. J Med Genet. 2006 Apr;43(4):334-9. doi: 10.1136/jmg.2005.036608. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155189 Free PMC article.

4

Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.

Ababneh FK, AlSwaid A, Youssef T, Al Azzawi M, Crosby A, AlBalwi MA. Ababneh FK, et al. Am J Med Genet A. 2013 Dec;161A(12):3155-60. doi: 10.1002/ajmg.a.36160. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039075

5

Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family.

Babiker A, Al Noaim K, Al Swaid A, Alfadhel M, Deeb A, Martín-Rivada Á, Barrios V, Pérez-Jurado LA, Alfares A, Al Alwan I, Argente J. Babiker A, et al. Among authors: al swaid a. Clin Genet. 2021 Nov;100(5):601-606. doi: 10.1111/cge.14030. Epub 2021 Jul 22. Clin Genet. 2021. PMID: 34272725

6

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD; HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium. Parvari R, et al. Among authors: al swaid a. Nat Genet. 2002 Nov;32(3):448-52. doi: 10.1038/ng1012. Epub 2002 Oct 21. Nat Genet. 2002. PMID: 12389028

7

Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.

Ababneh FK, Al-Swaid A, Elhag A, Youssef T, Alsaif S. Ababneh FK, et al. Among authors: al swaid a. Am J Med Genet A. 2014 Jun;164A(6):1525-9. doi: 10.1002/ajmg.a.36465. Epub 2014 Apr 9. Am J Med Genet A. 2014. PMID: 24719364

8

First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism.

Qubbaj W, Al-Swaid A, Al-Hassan S, Awartani K, Deek H, Coskun S. Qubbaj W, et al. Among authors: al swaid a. Reprod Biomed Online. 2011 Jan;22(1):72-9. doi: 10.1016/j.rbmo.2010.09.016. Epub 2010 Nov 27. Reprod Biomed Online. 2011. PMID: 21115269

9

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.

Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH. Christiansen HE, et al. Am J Hum Genet. 2010 Mar 12;86(3):389-98. doi: 10.1016/j.ajhg.2010.01.034. Epub 2010 Feb 25. Am J Hum Genet. 2010. PMID: 20188343 Free PMC article.

10

A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay.

Al-Batniji FS, Mahmoud MA, Van Dijken PJ, Al-Asiri RH, Al-Swaid AF, Al-Marshedy AM. Al-Batniji FS, et al. Among authors: al swaid af. Saudi Med J. 2001 Dec;22(12):1122-6. Saudi Med J. 2001. PMID: 11802189

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