Al-Rijjal RA - Search Results

1

Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.

Cebeci AN, Zou M, BinEssa HA, Alzahrani AS, Al-Rijjal RA, Al-Enezi AF, Al-Mohanna FA, Cavalier E, Meyer BF, Shi Y. Cebeci AN, et al. Among authors: al rijjal ra. J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgz260. doi: 10.1210/clinem/dgz260. J Clin Endocrinol Metab. 2020. PMID: 31821448

2

Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma.

Raef H, Al-Rijjal R, Al-Shehri S, Zou M, Al-Mana H, Baitei EY, Parhar RS, Al-Mohanna FA, Shi Y. Raef H, et al. J Clin Endocrinol Metab. 2010 Mar;95(3):1000-6. doi: 10.1210/jc.2009-1823. Epub 2010 Jan 20. J Clin Endocrinol Metab. 2010. PMID: 20089614

3

Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance.

Alzahrani AS, Zou M, Baitei EY, Parhar RS, Al-Kahtani N, Raef H, Almahfouz A, Amartey JK, Al-Rijjal R, Hammami R, Meyer BF, Al-Mohanna FA, Shi Y. Alzahrani AS, et al. Clin Endocrinol (Oxf). 2012 Apr;76(4):540-7. doi: 10.1111/j.1365-2265.2011.04258.x. Clin Endocrinol (Oxf). 2012. PMID: 22017372

4

A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1.

Alzahrani AS, Zou M, Baitei EY, Alshaikh OM, Al-Rijjal RA, Meyer BF, Shi Y. Alzahrani AS, et al. J Clin Endocrinol Metab. 2010 Sep;95(9):4176-83. doi: 10.1210/jc.2009-2278. Epub 2010 Jun 9. J Clin Endocrinol Metab. 2010. PMID: 20534770

5

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

Durmaz E, Zou M, Al-Rijjal RA, Bircan I, Akçurin S, Meyer B, Shi Y. Durmaz E, et al. Clin Endocrinol (Oxf). 2012 Sep;77(3):363-9. doi: 10.1111/j.1365-2265.2012.04394.x. Clin Endocrinol (Oxf). 2012. PMID: 22443290

6

Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.

Demir K, Kattan WE, Zou M, Durmaz E, BinEssa H, Nalbantoğlu Ö, Al-Rijjal RA, Meyer B, Özkan B, Shi Y. Demir K, et al. PLoS One. 2015 Jul 1;10(7):e0131376. doi: 10.1371/journal.pone.0131376. eCollection 2015. PLoS One. 2015. PMID: 26132292 Free PMC article.

7

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

Guven A, Al-Rijjal RA, BinEssa HA, Dogan D, Kor Y, Zou M, Kaya N, Alenezi AF, Hancili S, Tarım Ö, Baitei EY, Kattan WE, Meyer BF, Shi Y. Guven A, et al. Among authors: al rijjal ra. Clin Endocrinol (Oxf). 2017 Jul;87(1):103-112. doi: 10.1111/cen.13347. Epub 2017 May 11. Clin Endocrinol (Oxf). 2017. PMID: 28383812

8

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.

Acar S, BinEssa HA, Demir K, Al-Rijjal RA, Zou M, Çatli G, Anık A, Al-Enezi AF, Özışık S, Al-Faham MSA, Abacı A, Dündar B, Kattan WE, Alsagob M, Kavukçu S, Tamimi HE, Meyer BF, Böber E, Shi Y. Acar S, et al. Among authors: al rijjal ra. PLoS One. 2018 Mar 5;13(3):e0193388. doi: 10.1371/journal.pone.0193388. eCollection 2018. PLoS One. 2018. PMID: 29505567 Free PMC article.

9

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.

Zou M, Alzahrani AS, Al-Odaib A, Alqahtani MA, Babiker O, Al-Rijjal RA, BinEssa HA, Kattan WE, Al-Enezi AF, Al Qarni A, Al-Faham MSA, Baitei EY, Alsagheir A, Meyer BF, Shi Y. Zou M, et al. Among authors: al rijjal ra. J Clin Endocrinol Metab. 2018 May 1;103(5):1889-1898. doi: 10.1210/jc.2017-02202. J Clin Endocrinol Metab. 2018. PMID: 29546359

10

Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.

BinEssa HA, Zou M, Al-Enezi AF, Alomrani B, Al-Faham MSA, Al-Rijjal RA, Meyer BF, Shi Y. BinEssa HA, et al. Among authors: al rijjal ra. Bone. 2019 Aug;125:186-193. doi: 10.1016/j.bone.2019.05.017. Epub 2019 May 15. Bone. 2019. PMID: 31102713

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