Roua A. Rijjal-Al

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 17 publications

Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.

Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.

Journal: Frontiers in genetics

Published: September 17, 2020

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.

Journal: Orphanet journal of rare diseases

Published: August 12, 2020

NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE-SITE MUTATION.

NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE-SITE MUTATION.

Journal: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists

Published: September 27, 2019

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

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

Journal: The Journal of clinical endocrinology and metabolism

Published: July 02, 2019

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

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

Journal: Bone

Published: March 14, 2019

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

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

Journal: BMC medical genetics

Published: January 16, 2018

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

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

Journal: PloS one

Published: November 08, 2017

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

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

Journal: The Journal of clinical endocrinology and metabolism

Published: October 06, 2017

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

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

Journal: Clinical endocrinology

Published: January 27, 2017

TSH overcomes Braf(V600E)-induced senescence to promote tumor progression via downregulation of p53 expression in papillary thyroid cancer.

TSH overcomes Braf(V600E)-induced senescence to promote tumor progression via downregulation of p53 expression in papillary thyroid cancer.

Journal: Oncogene

Published: February 26, 2015

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

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

Journal: PloS one

Published: February 25, 2015

KRAS(G12D)-mediated oncogenic transformation of thyroid follicular cells requires long-term TSH stimulation and is regulated by SPRY1.

KRAS(G12D)-mediated oncogenic transformation of thyroid follicular cells requires long-term TSH stimulation and is regulated by SPRY1.

Journal: Laboratory investigation; a journal of technical methods and pathology

Published: February 18, 2015

Showing 1-12 of 17

Last Updated: 09/26/2026