Al-Rijjal RA - Search Results

1

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype.

Raef H, Zou M, Baitei EY, Al-Rijjal RA, Kaya N, Al-Hamed M, Monies D, Abu-Dheim NN, Al-Hindi H, Al-Ghamdi MH, Meyer BF, Shi Y. Raef H, et al. Clin Endocrinol (Oxf). 2011 Dec;75(6):791-800. doi: 10.1111/j.1365-2265.2011.04134.x. Clin Endocrinol (Oxf). 2011. PMID: 21627674

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

Diagnosis by serendipity: Cushing syndrome attributable to cortisol-producing adrenal adenoma as the initial manifestation of multiple endocrine neoplasia type 1 due to a rare splicing site MEN1 gene mutation.

Alzahrani AS, Al-Khaldi N, Shi Y, Al-Rijjal RA, Zou M, Baitei EY, Amin T. Alzahrani AS, et al. Endocr Pract. 2008 Jul-Aug;14(5):595-602. doi: 10.4158/EP.14.5.595. Endocr Pract. 2008. PMID: 18753104

5

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

6

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

7

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

8

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

9

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. Zou M, et al. Thyroid. 2014 Aug;24(8):1256-66. doi: 10.1089/thy.2013.0610. Epub 2014 Jun 10. Thyroid. 2014. PMID: 24798740 Free PMC article.

10

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.

Kor Y, Zou M, Al-Rijjal RA, Monies D, Meyer BF, Shi Y. Kor Y, et al. Among authors: al rijjal ra. BMC Med Genet. 2018 Jul 11;19(1):115. doi: 10.1186/s12881-018-0629-2. BMC Med Genet. 2018. PMID: 29996815 Free PMC article.

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