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

The journal of clinical endocrinology and metabolism, 2018-05, Vol.103 (5), p.1889-1898

2018

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

Bone (New York, N.Y.), 2019-08, Vol.125, p.186-193

2019

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

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.100-100, Article 100

2021

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β-catenin attenuation leads to up-regulation of activating NKG2D ligands and tumor regression in BrafV600E-driven thyroid cancer cells

Frontiers in immunology, 2023-07, Vol.14, p.1171816-1171816

2023

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

PloS one, 2015-07, Vol.10 (7), p.e0131376-e0131376

2015

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Novel and de novo PHEX mutations in patients with hypophosphatemic rickets

Bone (New York, N.Y.), 2013-01, Vol.52 (1), p.286-291

2013

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

PloS one, 2018-03, Vol.13 (3), p.e0193388-e0193388

2018

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

Clinical endocrinology (Oxford), 2012-09, Vol.77 (3), p.363-369

2012

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

Frontiers in genetics, 2020-11, Vol.11, p.607517-607517

2020

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A Novel G102E Mutation of CYP27B1 in a Large Family with Vitamin D-Dependent Rickets Type 1

The journal of clinical endocrinology and metabolism, 2010-09, Vol.95 (9), p.4176-4183

2010

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

BMC medical genetics, 2018-07, Vol.19 (1), p.115-115, Article 115

2018

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Cyp24a1 Attenuation Limits Progression of BrafV600E -Induced Papillary Thyroid Cancer Cells and Sensitizes Them to BRAFV600E Inhibitor PLX4720

Cancer research (Chicago, Ill.), 2017-04, Vol.77 (8), p.2161-2172

2017

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Biallelic p.R2223H Mutation in the Thyroglobulin Gene Causes Thyroglobulin Retention and Severe Hypothyroidism with Subsequent Development of Thyroid Carcinoma

The journal of clinical endocrinology and metabolism, 2010-03, Vol.95 (3), p.1000-1006

2010

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

Clinical endocrinology (Oxford), 2011-12, Vol.75 (6), p.791-800

2011

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High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines

Oncogene, 2005-02, Vol.24 (8), p.1455-1460

2005

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Genotype-phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism

European journal of endocrinology, 2008-04, Vol.158 (4), p.577-582

2008

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Aberrant BRAF splicing as an alternative mechanism for oncogenic B-Raf activation in thyroid carcinoma

The Journal of pathology, 2009-04, Vol.217 (5), p.707-715

2009

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Oncogenic Activation of MAP Kinase by BRAF Pseudogene in Thyroid Tumors

Neoplasia (New York, N.Y.), 2009-01, Vol.11 (1), p.57-65

2009

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Increased CYP24A1 expression is associated with BRAFV600E mutation and advanced stages in papillary thyroid carcinoma

Clinical endocrinology (Oxford), 2014-07, Vol.81 (1), p.109-116

2014

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Metastatic Follicular Thyroid Carcinoma Arising from Congenital Goiter as a Result of a Novel Splice Donor Site Mutation in the Thyroglobulin Gene

The journal of clinical endocrinology and metabolism, 2006-03, Vol.91 (3), p.740-746

2006

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Ribonucleic Acid Interference Targeting S100A4 (Mts1) Suppresses Tumor Growth and Metastasis of Anaplastic Thyroid Carcinoma in a Mouse Model

The journal of clinical endocrinology and metabolism, 2006-06, Vol.91 (6), p.2373-2379

2006

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Microarray Analysis of Metastasis-Associated Gene Expression Profiling in a Murine Model of Thyroid Carcinoma Pulmonary Metastasis: Identification of S100A4 (Mts1) Gene Overexpression as a Poor Prognostic Marker for Thyroid Carcinoma

The journal of clinical endocrinology and metabolism, 2004-12, Vol.89 (12), p.6146-6154

2004

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A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

International Journal of Endocrinology, 2015-01, Vol.2015 (2015), p.358-362-144

2015

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

Thyroid (New York, N.Y.), 2014-08, Vol.24 (8), p.1256-1266

2014

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Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism

The journal of clinical endocrinology and metabolism, 2022-02, Vol.107 (3), p.e1263-e1276

2022

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

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

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

β-catenin attenuation leads to up-regulation of activating NKG2D ligands and tumor regression in BrafV600E-driven thyroid cancer cells

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

Novel and de novo PHEX mutations in patients with hypophosphatemic rickets

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

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

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

A Novel G102E Mutation of CYP27B1 in a Large Family with Vitamin D-Dependent Rickets Type 1

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

Cyp24a1 Attenuation Limits Progression of BrafV600E -Induced Papillary Thyroid Cancer Cells and Sensitizes Them to BRAFV600E Inhibitor PLX4720

Biallelic p.R2223H Mutation in the Thyroglobulin Gene Causes Thyroglobulin Retention and Severe Hypothyroidism with Subsequent Development of Thyroid Carcinoma

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

High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines

Genotype-phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism

Aberrant BRAF splicing as an alternative mechanism for oncogenic B-Raf activation in thyroid carcinoma

Oncogenic Activation of MAP Kinase by BRAF Pseudogene in Thyroid Tumors

Increased CYP24A1 expression is associated with BRAFV600E mutation and advanced stages in papillary thyroid carcinoma

Metastatic Follicular Thyroid Carcinoma Arising from Congenital Goiter as a Result of a Novel Splice Donor Site Mutation in the Thyroglobulin Gene

Ribonucleic Acid Interference Targeting S100A4 (Mts1) Suppresses Tumor Growth and Metastasis of Anaplastic Thyroid Carcinoma in a Mouse Model

Microarray Analysis of Metastasis-Associated Gene Expression Profiling in a Murine Model of Thyroid Carcinoma Pulmonary Metastasis: Identification of S100A4 (Mts1) Gene Overexpression as a Poor Prognostic Marker for Thyroid Carcinoma

A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

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

Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism

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