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Items: 5

1.

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.

Kaya N, Alsagob M, D'Adamo MC, Al-Bakheet A, Hasan S, Muccioli M, Almutairi FB, Almass R, Aldosary M, Monies D, Mustafa OM, Alyounes B, Kenana R, Al-Zahrani J, Naim E, Binhumaid FS, Qari A, Almutairi F, Meyer B, Plageman TF, Pessia M, Colak D, Al-Owain M.

J Med Genet. 2016 Nov;53(11):786-792. doi: 10.1136/jmedgenet-2015-103637. Epub 2016 Aug 31.

PMID:
27582084
2.

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.

Al-Hamed MH, Kurdi W, Alsahan N, Alabdullah Z, Abudraz R, Tulbah M, Alnemer M, Khan R, Al-Jurayb H, Alahmed A, Tahir AI, Khalil D, Edwards N, Al Abdulaziz B, Binhumaid FS, Majid S, Faquih T, El-Kalioby M, Abouelhoda M, Altassan N, Monies D, Meyer B, Sayer JA, Albaqumi M.

J Med Genet. 2016 May;53(5):338-47. doi: 10.1136/jmedgenet-2015-103469. Epub 2016 Feb 9.

3.

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.

Shtir C, Aldahmesh MA, Al-Dahmash S, Abboud E, Alkuraya H, Abouammoh MA, Nowailaty SR, Al-Thubaiti G, Naim EA, ALYounes B, Binhumaid FS, ALOtaibi AB, Altamimi AS, Alamer FH, Hashem M, Abouelhoda M, Monies D, Alkuraya FS.

Hum Genet. 2016 Feb;135(2):193-200. doi: 10.1007/s00439-015-1624-8. Epub 2015 Dec 22.

PMID:
26693933
4.

Concomitant RAS, RET/PTC, or BRAF mutations in advanced stage of papillary thyroid carcinoma.

Zou M, Baitei EY, Alzahrani AS, BinHumaid FS, Alkhafaji D, Al-Rijjal RA, Meyer BF, Shi Y.

Thyroid. 2014 Aug;24(8):1256-66. doi: 10.1089/thy.2013.0610. Epub 2014 Jun 10.

5.

Increased CYP24A1 expression is associated with BRAF(V600E) mutation and advanced stages in papillary thyroid carcinoma.

Zou M, BinHumaid FS, Alzahrani AS, Baitei EY, Al-Mohanna FA, Meyer BF, Shi Y.

Clin Endocrinol (Oxf). 2014 Jul;81(1):109-16. doi: 10.1111/cen.12396. Epub 2014 Jan 21.

PMID:
24382015

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