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The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

Journal of clinical research in pediatric endocrinology, 2021-12, Vol.13 (4), p.461-467

2021

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Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

Journal of the Endocrine Society, 2017-04, Vol.1 (4), p.345-358

2017

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Atypical GH Insensitivity Syndrome and Severe Insulin-Like Growth Factor-I Deficiency Resulting from Compound Heterozygous Mutations of the GH Receptor, Including a Novel Frameshift Mutation Affecting the Intracellular Domain

Hormone research in paediatrics, 2010-01, Vol.74 (6), p.406-411

2010

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Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Proceedings of the National Academy of Sciences - PNAS, 2017-03, Vol.114 (10), p.E1933-E1940

2017

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Management of pediatric patients with type 1 diabetes

Pediatric annals, 2014-03, Vol.43 (3), p.115-120

2014

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Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

The New England journal of medicine, 2004-04, Vol.350 (18), p.1838-1849

2004

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Efficacy and safety of triptorelin 6-month formulation in patients with central precocious puberty

Journal of Pediatric Endocrinology and Metabolism, 2016-11, Vol.29 (11), p.1241

2016

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Bone mineral density in young adult survivors of childhood cancer

Journal of pediatric hematology/oncology, 1998-05, Vol.20 (3), p.241-245

1998

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The Growth Hormone Receptor (GHR) c.899dupC Mutation Functions as a Dominant Negative: Insights into the Pathophysiology of Intracellular GHR Defects

The journal of clinical endocrinology and metabolism, 2011-11, Vol.96 (11), p.E1896-E1904

2011

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Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11[Beta]-hydroxylase deficiency

Proceedings of the National Academy of Sciences - PNAS, 2017-03, Vol.114 (10), p.E1933

2017

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Evaluation of a combined blood glucose monitoring and gaming system (Didget®) for motivation in children, adolescents, and young adults with type 1 diabetes

Pediatric diabetes, 2013-08, Vol.14 (5), p.350-357

2013

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Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia

The journal of clinical endocrinology and metabolism, 2000-10, Vol.85 (10), p.3636-3639

2000

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Six Year Old with Autoimmune Polyglandular Syndrome: Can Genetics Tell Us the Story?

Journal of Pediatric Endocrinology and Metabolism, 2010-07, Vol.23 (7), p.725-728

2010

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Novel Mutation in Cytochrome P450c17 Causes Complete Combined 17α-Hydroxylase/17,20-Lyase Deficiency

Journal of Pediatric Endocrinology and Metabolism, 2008, Vol.21 (2), p.185-190

2008

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Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency

Journal of pediatric endocrinology & metabolism : JPEM, 2008-02, Vol.21 (2), p.185-190

2008

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Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

International journal of pediatric endocrinology, 2010, Vol.2010, p.1-17

2010

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Turner syndrome phenotype with 47,XXX karyotype: Further investigation warranted?

American journal of medical genetics, 2004-02, Vol.125A (1), p.106-107

2004

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Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia1

The journal of clinical endocrinology and metabolism, 2000-10, Vol.85 (10), p.3636-3639

2000

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Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia 1

The journal of clinical endocrinology and metabolism, 2000-10, Vol.85 (10), p.3636-3639

2000

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Coincidence of multiple endocrine neoplasia type IIa and type 1 diabetes mellitus

Journal of Pediatric Endocrinology and Metabolism, 2005-01, Vol.18 (9), p.925

2005

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Fructosamine levels demonstrate improved glycemic control for some children attending a diabetes summer camp: Fructosamine levels at a diabetes camp

Pediatric diabetes, 2000-12, Vol.1 (4), p.204-208

2000

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Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

International journal of pediatric endocrinology, 2010-11, Vol.2010 (1), p.275213-275213

2010

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Fructosamine levels demonstrate improved glycemic control for some children attending a diabetes summer camp

Pediatric diabetes, 2000-12, Vol.1 (4), p.204-208

2000

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Adrenal Hypoplasia Congenita and Male Pseudohermaphroditism: New Syndromic Association Association Additional Sex Determining Gene(s)

Pediatric research, 1999-04, Vol.45 (4, Part 2 of 2), p.142-142A

1999

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Transcripts originating in intron 1 of the HSD11 (11 beta-hydroxysteroid dehydrogenase) gene encode a truncated polypeptide that is enzymatically inactive

Molecular endocrinology (Baltimore, Md.), 1993-02, Vol.7 (2), p.154-160

1993

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The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

Atypical GH Insensitivity Syndrome and Severe Insulin-Like Growth Factor-I Deficiency Resulting from Compound Heterozygous Mutations of the GH Receptor, Including a Novel Frameshift Mutation Affecting the Intracellular Domain

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Management of pediatric patients with type 1 diabetes

Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

Efficacy and safety of triptorelin 6-month formulation in patients with central precocious puberty

Bone mineral density in young adult survivors of childhood cancer

The Growth Hormone Receptor (GHR) c.899dupC Mutation Functions as a Dominant Negative: Insights into the Pathophysiology of Intracellular GHR Defects

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11[Beta]-hydroxylase deficiency

Evaluation of a combined blood glucose monitoring and gaming system (Didget®) for motivation in children, adolescents, and young adults with type 1 diabetes

Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia

Six Year Old with Autoimmune Polyglandular Syndrome: Can Genetics Tell Us the Story?

Novel Mutation in Cytochrome P450c17 Causes Complete Combined 17α-Hydroxylase/17,20-Lyase Deficiency

Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

Turner syndrome phenotype with 47,XXX karyotype: Further investigation warranted?

Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia1

Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia 1

Coincidence of multiple endocrine neoplasia type IIa and type 1 diabetes mellitus

Fructosamine levels demonstrate improved glycemic control for some children attending a diabetes summer camp: Fructosamine levels at a diabetes camp

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

Fructosamine levels demonstrate improved glycemic control for some children attending a diabetes summer camp

Adrenal Hypoplasia Congenita and Male Pseudohermaphroditism: New Syndromic Association Association Additional Sex Determining Gene(s)

Transcripts originating in intron 1 of the HSD11 (11 beta-hydroxysteroid dehydrogenase) gene encode a truncated polypeptide that is enzymatically inactive

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