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Gene Expression in Mouse Thyrotrope Adenoma: Transcription Elongation Factor Stimulates Proliferation

Endocrinology (Philadelphia), 2016-09, Vol.157 (9), p.3631-3646

2016

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Murine SEC24D can substitute functionally for SEC24C during embryonic development

Scientific reports, 2021-10, Vol.11 (1), p.21100-21100, Article 21100

2021

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Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

Endocrine Connections, 2023-07, Vol.12 (8), p.1-12

2023

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The pattern of congenital heart defects arising from reduced Tbx5 expression is altered in a Down syndrome mouse model

BMC developmental biology, 2015-07, Vol.15 (1), p.30-30, Article 30

2015

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The 83,557insA variant of the gene coding 11β-hydroxysteroid dehydrogenase type 1 enzyme associates with serum osteocalcin in patients with endogenous Cushing's syndrome

The Journal of steroid biochemistry and molecular biology, 2011, Vol.123 (1), p.79-84

2011

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Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene

Clinical endocrinology (Oxford), 2007-09, Vol.67 (3), p.385-392

2007

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Pituitary Transcription Factor Mutations Leading to Hypopituitarism

Genetics of Endocrine Diseases and Syndromes, p.263-298

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Detection of the Bcl I polymorphism of the glucocorticoid receptor gene by single-tube allele-specific polymerase chain reaction

The Journal of steroid biochemistry and molecular biology, 2006-08, Vol.100 (4), p.161-166

2006

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Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era

Endocrine reviews, 2016-12, Vol.37 (6), p.636-675

2016

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Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family

BMC medical genetics, 2008-04, Vol.9 (1), p.29-29, Article 29

2008

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Parathyroid hormone-dependent hypercalcemia

Wiener Klinische Wochenschrift, 2009, Vol.121 (7-8), p.236-245, Article 236

2009

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High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

American journal of human genetics, 2021-08, Vol.108 (8), p.1526-1539

2021

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Otx2b mutant zebrafish have pituitary, eye and mandible defects that model mammalian disease

Human molecular genetics, 2020-06, Vol.29 (10), p.1648-1657

2020

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Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases

European journal of pediatrics, 2008-04, Vol.167 (4), p.441-446

2008

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Lhx4 Deficiency: Increased Cyclin-Dependent Kinase Inhibitor Expression and Pituitary Hypoplasia

Molecular endocrinology (Baltimore, Md.), 2015-04, Vol.29 (4), p.597-612

2015

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The phenotypic spectrum associated with OTX2 mutations in humans

European journal of endocrinology, 2021-05, Vol.185 (1), p.121

2021

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Pituitary gland development and disease: from stem cell to hormone production

Current topics in developmental biology, 2013, Vol.106, p.1-47

2013

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ISL1-based LIM complexes control Slit2 transcription in developing cranial motor neurons

Scientific reports, 2016-11, Vol.6 (1), p.36491-36491, Article 36491

2016

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OR16-04 OTX2 Mutations in Congenital Hypopituitarism Patients

Journal of the Endocrine Society, 2020-05, Vol.4 (Supplement_1)

2020

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OR24-1 Structure-Function Analysis of Human OTX2 Variants Defines Required Region of C-Terminus for Pituitary, Eye, and Craniofacial Development

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

2019

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SIX3 Variant Causes Pituitary Stalk Interruption Syndrome and Combined Pituitary Hormone Deficiency

Journal of the Endocrine Society, 2021-05, Vol.5 (Suppl 1), p.A530-A530

2021

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SIX3 V ariant Causes Pituitary Stalk Interruption Syndrome and Combined Pituitary Hormone Deficiency

Journal of the Endocrine Society, 2021-05, Vol.5 (Supplement_1), p.A530-A530

2021

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SAT-291 SIX3 Is Essential for Hypothalamic and Pituitary Development

Journal of the Endocrine Society, 2020-05, Vol.4 (Supplement_1)

2020

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Genetics of Pituitary Insufficiency and Stem Cell Regulation: A Paradigm Shift

Biology of reproduction, 2012-08, Vol.87 (Suppl_1), p.159-159

2012

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MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 1

Clinical endocrinology (Oxford), 2007-11, Vol.67 (5), p.727-734

2007

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Gene Expression in Mouse Thyrotrope Adenoma: Transcription Elongation Factor Stimulates Proliferation

Murine SEC24D can substitute functionally for SEC24C during embryonic development

Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

The pattern of congenital heart defects arising from reduced Tbx5 expression is altered in a Down syndrome mouse model

The 83,557insA variant of the gene coding 11β-hydroxysteroid dehydrogenase type 1 enzyme associates with serum osteocalcin in patients with endogenous Cushing's syndrome

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene

Pituitary Transcription Factor Mutations Leading to Hypopituitarism

Detection of the Bcl I polymorphism of the glucocorticoid receptor gene by single-tube allele-specific polymerase chain reaction

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era

Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family

Parathyroid hormone-dependent hypercalcemia

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Otx2b mutant zebrafish have pituitary, eye and mandible defects that model mammalian disease

Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases

Lhx4 Deficiency: Increased Cyclin-Dependent Kinase Inhibitor Expression and Pituitary Hypoplasia

The phenotypic spectrum associated with OTX2 mutations in humans

Pituitary gland development and disease: from stem cell to hormone production

ISL1-based LIM complexes control Slit2 transcription in developing cranial motor neurons

OR16-04 OTX2 Mutations in Congenital Hypopituitarism Patients

OR24-1 Structure-Function Analysis of Human OTX2 Variants Defines Required Region of C-Terminus for Pituitary, Eye, and Craniofacial Development

SIX3 Variant Causes Pituitary Stalk Interruption Syndrome and Combined Pituitary Hormone Deficiency

SIX3 V ariant Causes Pituitary Stalk Interruption Syndrome and Combined Pituitary Hormone Deficiency

SAT-291 SIX3 Is Essential for Hypothalamic and Pituitary Development

Genetics of Pituitary Insufficiency and Stem Cell Regulation: A Paradigm Shift

MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 1

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