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THU230 Consumptive Hypothyroidism Secondary To Hemangioma

Journal of the Endocrine Society, 2023-10, Vol.7 (Supplement_1)

2023

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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.70-70, Article 70

2012

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Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation

Journal of Pediatric Endocrinology and Metabolism, 2021-02, Vol.34 (2), p.267-271

2021

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SAT081 Maturity Onset Diabetes Of The Young (MODY) Due To A New BLK Gene Mutation

Journal of the Endocrine Society, 2023-10, Vol.7 (Supplement_1)

2023

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The prevalence of metabolic syndrome and cardiovascular risk factors in a group of obese Saudi children and adolescents: a hospital-based study

Annals of Saudi medicine, 2009-09, Vol.29 (5), p.357-360

2009

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SAT-275 “Nutritional Rickets: Still A Problem In The 21StCentury”

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

2019

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Re: EIF2AK3 mutations in patients with Wolcott-Rallison syndrome

Annals of Saudi medicine, 2005-07, Vol.25 (4), p.350; author reply 350-350

Taha, Doris

2005

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Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism

Nature genetics, 2006-06, Vol.38 (6), p.682-687

2006

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Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

Molecular genetics and metabolism, 2014-01, Vol.111 (1), p.33-40

2014

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SAT-297 Mutation in SRY Gene Presenting as Syndromic 46XY Disorder of Sexual Differentiation (DSD)

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

2019

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A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1

Journal of the Endocrine Society, 2017-04, Vol.1 (4), p.278-282

2017

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An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)

American journal of medical genetics. Part A, 2016-07, Vol.170A (7), p.1918-1923

2016

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MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G)

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

2019

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SAT-298 A Case of a Forgotten Histrelin Acetate Implant: Can Histrelin Acetate Implants Be Used for More Than a Year?

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

2019

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Growth Hormone Replacement Therapy in Children with Leukemia in Remission

Clinical pediatrics, 2001-08, Vol.40 (8), p.441-445

2001

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Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

Diabetes (New York, N.Y.), 2004-07, Vol.53 (7), p.1876-1883

2004

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Wolcott-Rallison Syndrome

Diabetes (New York, N.Y.), 2004-07, Vol.53 (7), p.1876-1883

2004

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Beta-cell response to intravenous glucagon in African-American and Hispanic children with type 2 diabetes mellitus

Journal of Pediatric Endocrinology and Metabolism, 2002-01, Vol.15 (1), p.59

2002

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Monozygotic twins with congenital adrenal hyperplasia: long-term endocrine evaluation and gene analysis

Journal of Pediatric Endocrinology and Metabolism, 2003-04, Vol.16 (4), p.565

2003

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Hyperglycemia and Hypoinsulinemia in Patients with Fanconi-Bickel Syndrome

Journal of Pediatric Endocrinology & Metabolism, 2008-06, Vol.21 (6), p.581-586

2008

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The Prevalence of Metabolic Syndrome and Cardiovascular Risk Factors in a Group of Obese Saudi Children and Adolescents: A Hospital-Based Study

Annals of Saudi medicine, 2009-09, Vol.29 (5), p.357-360

2009

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A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth

American journal of medical genetics. Part A, 2007-12, Vol.143A (23), p.2835-2837

2007

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Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: A new autosomal recessive syndrome?

American journal of medical genetics, 2003-10, Vol.122A (3), p.269-273

2003

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Schimke immunoosseous dysplasia: defining skeletal features

European journal of pediatrics, 2010-07, Vol.169 (7), p.801-811

2010

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Schimke immunoosseous dysplasia: suggestions of genetic diversity

Human mutation, 2007-03, Vol.28 (3), p.273-283

2007

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THU230 Consumptive Hypothyroidism Secondary To Hemangioma

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation

SAT081 Maturity Onset Diabetes Of The Young (MODY) Due To A New BLK Gene Mutation

The prevalence of metabolic syndrome and cardiovascular risk factors in a group of obese Saudi children and adolescents: a hospital-based study

SAT-275 “Nutritional Rickets: Still A Problem In The 21StCentury”

Re: EIF2AK3 mutations in patients with Wolcott-Rallison syndrome

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism

Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

SAT-297 Mutation in SRY Gene Presenting as Syndromic 46XY Disorder of Sexual Differentiation (DSD)

A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)

MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G)

SAT-298 A Case of a Forgotten Histrelin Acetate Implant: Can Histrelin Acetate Implants Be Used for More Than a Year?

Growth Hormone Replacement Therapy in Children with Leukemia in Remission

Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

Wolcott-Rallison Syndrome

Beta-cell response to intravenous glucagon in African-American and Hispanic children with type 2 diabetes mellitus

Monozygotic twins with congenital adrenal hyperplasia: long-term endocrine evaluation and gene analysis

Hyperglycemia and Hypoinsulinemia in Patients with Fanconi-Bickel Syndrome

The Prevalence of Metabolic Syndrome and Cardiovascular Risk Factors in a Group of Obese Saudi Children and Adolescents: A Hospital-Based Study

A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth

Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: A new autosomal recessive syndrome?

Schimke immunoosseous dysplasia: defining skeletal features

Schimke immunoosseous dysplasia: suggestions of genetic diversity

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