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Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

PloS one, 2022-05, Vol.17 (5), p.e0265400-e0265400

2022

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Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community

Clinical endocrinology (Oxford), 2013-08, Vol.79 (2), p.275-281

2013

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A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism

Journal of pediatric endocrinology & metabolism : JPEM, 2014-03, Vol.27 (3-4), p.323

2014

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Puberty, stress, and sudden death

The Lancet (British edition), 2010-10, Vol.376 (9751), p.1512-1512

2010

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Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

PloS one, 2022-05, Vol.17 (5)

2022

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Hypoxia upregulates the expression of the NDRG1 gene leading to its overexpression in various human cancers

BMC genetics, 2004-09, Vol.5, p.27

Cangul, Hakan

2004

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TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis

Journal of Pediatric Endocrinology and Metabolism, 2012, Vol.25 (5), p.419-426

2012

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Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

The journal of clinical endocrinology and metabolism, 2017-09, Vol.102 (9), p.3085-3090

2017

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Turkish perspective of Jervell and Lange-Nielsen syndrome

Annals of the Indian Academy of Neurology, 2013-01, Vol.16 (1), p.129-130

2013

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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

The journal of clinical endocrinology and metabolism, 2016-12, Vol.101 (12), p.4521-4531

2016

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Strong Similarities in Turkish and European Patients Diagnosed with APECED Syndrome

Turkish journal of endocrinology and metabolism, 2015-09, Vol.19 (3)

2015

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A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

Journal of clinical research in pediatric endocrinology, 2015-12, Vol.7 (4), p.323-328

2015

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Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism

Endocrine, 2014-03, Vol.45 (2), p.206-212

2014

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The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism

Journal of clinical research in pediatric endocrinology, 2015-09, Vol.7 (3), p.238-241

2015

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Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family

Pediatric cardiology, 2013-12, Vol.34 (8), p.2063-2067

2013

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One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism

Journal of clinical research in pediatric endocrinology, 2014-09, Vol.6 (3), p.169-173

2014

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Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD

Journal of Pediatric Endocrinology and Metabolism, 2013, Vol.26 (1-2), p.191-191

2013

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A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects

Journal of pediatric endocrinology & metabolism : JPEM, 2014-11, Vol.27 (11-12), p.1101

2014

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An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis

Journal of pediatric endocrinology & metabolism : JPEM, 2014-09, Vol.27 (9-10), p.1021

2014

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Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation

Journal of Pediatric Endocrinology and Metabolism, 2012-12, Vol.25 (11-12), p.1153-1156

2012

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Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism

Puberty, stress, and sudden death

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

Hypoxia upregulates the expression of the NDRG1 gene leading to its overexpression in various human cancers

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

Turkish perspective of Jervell and Lange-Nielsen syndrome

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

PLA2G6 , encoding a phospholipase A 2 , is mutated in neurodegenerative disorders with high brain iron

Strong Similarities in Turkish and European Patients Diagnosed with APECED Syndrome

A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism

The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism

Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism

Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD

A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis

Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation

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