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Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

Nature communications, 2018-05, Vol.9 (1), p.2105-10, Article 2105

2018

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Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation

The journal of clinical endocrinology and metabolism, 2010-03, Vol.95 (3), p.1137-1142

2010

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IGF-I Receptor Mutations Resulting in Intrauterine and Postnatal Growth Retardation

The New England journal of medicine, 2003-12, Vol.349 (23), p.2211-2222

2003

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A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation

The journal of clinical endocrinology and metabolism, 2010-05, Vol.95 (5), p.2316-2324

2010

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Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes

Journal of human genetics, 2017-08, Vol.62 (8), p.755-762

2017

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A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children

The journal of clinical endocrinology and metabolism, 2020-04, Vol.105 (4), p.e1705-e1717

2020

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IGF signaling defects as causes of growth failure and IUGR

Trends in endocrinology and metabolism, 2008-08, Vol.19 (6), p.197-205

2008

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Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

Genetics in medicine, 2018-07, Vol.20 (7), p.728-736

2018

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The Interaction of Glucocorticoids and Progesterone Distinctively Affects Epithelial Sodium Transport

Lung, 2014-12, Vol.192 (6), p.935-946

2014

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Novel Mutations in the Asparagine Synthetase Gene ( ASNS ) Associated With Microcephaly

Frontiers in genetics, 2018-07, Vol.9, p.245-245

2018

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Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism

Molecular metabolism (Germany), 2017-03, Vol.6 (3), p.295-305

2017

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IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA)

Open access Macedonian journal of medical sciences, 2018-11, Vol.6 (11), p.2040-2044

2018

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Type I plasminogen deficiency with unexpected clinical aspects: Could be more than coexistence?

Cogent medicine, 2017-01, Vol.4 (1), p.1334317

2017

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A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation

Molecular endocrinology (Baltimore, Md.), 2010-04, Vol.24 (4), p.873-873

2010

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Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation

Molecular endocrinology (Baltimore, Md.), 2010-02, Vol.24 (2), p.469-470

2010

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Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree

Clinical endocrinology (Oxford), 2015-03, Vol.82 (3), p.453-461

2015

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Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation

PloS one, 2012-05, Vol.7 (5), p.e38220-e38220

2012

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Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance

Journal of pediatric endocrinology & metabolism : JPEM, 2015-01, Vol.28 (1-2), p.217

2015

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Obesity in childhood and adolescence: a review in the interface between adipocyte physiology and clinical challenges

Hormones (Athens, Greece), 2005-10, Vol.4 (4), p.189-199

2005

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Estrogen modulates plasminogen promoter activity

Biochemical and biophysical research communications, 2013-08, Vol.438 (1), p.110-115

2013

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Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children

Journal of pediatric endocrinology & metabolism : JPEM, 2017-05, Vol.30 (5), p.507

2017

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Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

European journal of endocrinology, 2013-01, Vol.168 (1), p.K1

2013

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Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity

Thrombosis and haemostasis, 2011-03, Vol.105 (3), p.454

2011

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A Novel GH1 Mutation in a Family with Isolated Growth Hormone Deficiency Type II

Hormone research in paediatrics, 2012-01, Vol.77 (3), p.200-204

2012

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Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation

IGF-I Receptor Mutations Resulting in Intrauterine and Postnatal Growth Retardation

A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation

Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes

A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children

IGF signaling defects as causes of growth failure and IUGR

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

The Interaction of Glucocorticoids and Progesterone Distinctively Affects Epithelial Sodium Transport

Novel Mutations in the Asparagine Synthetase Gene ( ASNS ) Associated With Microcephaly

Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism

IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA)

Type I plasminogen deficiency with unexpected clinical aspects: Could be more than coexistence?

A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation

Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation

Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation

Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance

Obesity in childhood and adolescence: a review in the interface between adipocyte physiology and clinical challenges

Estrogen modulates plasminogen promoter activity

Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes

Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity

A Novel GH1 Mutation in a Family with Isolated Growth Hormone Deficiency Type II

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