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Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity

Endocrine reviews, 2011-08, Vol.32 (4), p.472-497

2011

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Mutations in MRAP , encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Nature genetics, 2005-02, Vol.37 (2), p.166-170

2005

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Intrauterine Growth Retardation and Postnatal Growth Failure Associated with Deletion of the Insulin-Like Growth Factor I Gene

The New England journal of medicine, 1996-10, Vol.335 (18), p.1363-1367

1996

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DNA Methylation and Silencing of Gene Expression

Trends in Endocrinology & Metabolism, 2000-05, Vol.11 (4), p.142-148

2000

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Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

Human molecular genetics, 2001-02, Vol.10 (3), p.283-290

2001

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Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

Trends in endocrinology and metabolism, 2005-12, Vol.16 (10), p.451-457

2005

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Linkage of the Angiotensinogen Gene to Essential Hypertension

The New England journal of medicine, 1994-06, Vol.330 (23), p.1629-1633

1994

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Relationship between phenotype and genotype in growth hormone insensitivity syndrome

Acta Paediatrica, 1999-02, Vol.88 (s428), p.158-162

1999

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Association between Insulin-Like Growth Factor I (IGF-I) Polymorphisms, Circulating IGF-I, and Pre- and Postnatal Growth in Two European Small for Gestational Age Populations

The journal of clinical endocrinology and metabolism, 2003-10, Vol.88 (10), p.4805-4810

2003

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Association Analysis of Ten Candidate Genes in a Large Multinational Cohort of Small for Gestational Age Children and Children with Idiopathic Short Stature (NESTEGG study)

Hormone research in paediatrics, 2013-01, Vol.80 (6), p.466-476

2013

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An Intronic Growth Hormone Receptor Mutation Causing Activation of a Pseudoexon Is Associated with a Broad Spectrum of Growth Hormone Insensitivity Phenotypes

The journal of clinical endocrinology and metabolism, 2007-02, Vol.92 (2), p.655-659

2007

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Cloning and Expression of cDNA Encoding a Rat Adrenomedullin Receptor (∗)

The Journal of biological chemistry, 1995-10, Vol.270 (43), p.25344-25347

1995

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Identification of an Orphan Receptor Gene as a Type 1 Calcitonin Gene-Related Peptide Receptor

Biochemical and biophysical research communications, 1995-12, Vol.217 (3), p.832-838

1995

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Investigation of chromosome 17q as a locus for human essential hypertension in African Caribbeans

Journal of human hypertension, 2000-06, Vol.14 (6), p.385-387

2000

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Impaired Desensitization of a Mutant Adrenocorticotropin Receptor Associated with Apparent Constitutive Activity

Molecular endocrinology (Baltimore, Md.), 2002-12, Vol.16 (12), p.2746-2753

2002

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Pseudoexon Activation as a Novel Mechanism for Disease Resulting in Atypical Growth-Hormone Insensitivity

American journal of human genetics, 2001-09, Vol.69 (3), p.641-646

2001

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Acid-Labile Subunit Deficiency and Growth Failure: Description of Two Novel Cases

Hormone research in paediatrics, 2010-01, Vol.73 (5), p.328-334

2010

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POMC Gene-Derived Peptides Activate Melanocortin Type 3 Receptor on Murine Macrophages, Suppress Cytokine Release, and Inhibit Neutrophil Migration in Acute Experimental Inflammation

The Journal of immunology (1950), 1999-06, Vol.162 (12), p.7446-7453

1999

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Mechanisms and functions of AT(1) angiotensin receptor internalization

Regulatory peptides, 2000-07, Vol.91 (1-3), p.29-44

2000

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TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency

European journal of endocrinology, 2004-10, Vol.151 (4), p.463-465

2004

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Growth Hormone (GH) Insensitivity Syndrome due to a GH Receptor Truncated after Box1, Resulting in Isolated Failure of STAT 5 Signal Transduction

The journal of clinical endocrinology and metabolism, 2004-03, Vol.89 (3), p.1259-1266

2004

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Failed export of the adrenocorticotrophin receptor from the endoplasmic reticulum in non-adrenal cells: evidence in support of a requirement for a specific adrenal accessory factor

Journal of endocrinology, 2002-07, Vol.174 (1), p.17-25

2002

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The Aberrant Expression of the Gastric Inhibitory Polypeptide (GIP) Receptor in Adrenal Hyperplasia: Does Chronic Adrenocorticotropin Exposure Stimulate Up-Regulation of GIP Receptors in Cushing’s Disease?

The journal of clinical endocrinology and metabolism, 2005-05, Vol.90 (5), p.3009-3016

2005

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Investigation of the role of epigenetic modification of the rat glucokinase gene in fetal programming

Life sciences (1973), 2004-01, Vol.74 (11), p.1407-1415

2004

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Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

The Lancet (British edition), 1993-02, Vol.341 (8843), p.461-462

1993

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Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity

Mutations in MRAP , encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Intrauterine Growth Retardation and Postnatal Growth Failure Associated with Deletion of the Insulin-Like Growth Factor I Gene

DNA Methylation and Silencing of Gene Expression

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

Linkage of the Angiotensinogen Gene to Essential Hypertension

Relationship between phenotype and genotype in growth hormone insensitivity syndrome

Association between Insulin-Like Growth Factor I (IGF-I) Polymorphisms, Circulating IGF-I, and Pre- and Postnatal Growth in Two European Small for Gestational Age Populations

Association Analysis of Ten Candidate Genes in a Large Multinational Cohort of Small for Gestational Age Children and Children with Idiopathic Short Stature (NESTEGG study)

An Intronic Growth Hormone Receptor Mutation Causing Activation of a Pseudoexon Is Associated with a Broad Spectrum of Growth Hormone Insensitivity Phenotypes

Cloning and Expression of cDNA Encoding a Rat Adrenomedullin Receptor (∗)

Identification of an Orphan Receptor Gene as a Type 1 Calcitonin Gene-Related Peptide Receptor

Investigation of chromosome 17q as a locus for human essential hypertension in African Caribbeans

Impaired Desensitization of a Mutant Adrenocorticotropin Receptor Associated with Apparent Constitutive Activity

Pseudoexon Activation as a Novel Mechanism for Disease Resulting in Atypical Growth-Hormone Insensitivity

Acid-Labile Subunit Deficiency and Growth Failure: Description of Two Novel Cases

POMC Gene-Derived Peptides Activate Melanocortin Type 3 Receptor on Murine Macrophages, Suppress Cytokine Release, and Inhibit Neutrophil Migration in Acute Experimental Inflammation

Mechanisms and functions of AT(1) angiotensin receptor internalization

TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency

Growth Hormone (GH) Insensitivity Syndrome due to a GH Receptor Truncated after Box1, Resulting in Isolated Failure of STAT 5 Signal Transduction

Failed export of the adrenocorticotrophin receptor from the endoplasmic reticulum in non-adrenal cells: evidence in support of a requirement for a specific adrenal accessory factor

The Aberrant Expression of the Gastric Inhibitory Polypeptide (GIP) Receptor in Adrenal Hyperplasia: Does Chronic Adrenocorticotropin Exposure Stimulate Up-Regulation of GIP Receptors in Cushing’s Disease?

Investigation of the role of epigenetic modification of the rat glucokinase gene in fetal programming

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

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