UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 184

Sortiert nach

STAT5b Deficiency: An Unsuspected Cause of Growth Failure, Immunodeficiency, and Severe Pulmonary Disease

The Journal of pediatrics, 2011-05, Vol.158 (5), p.701-708

2011

Volltextzugriff (PDF)

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Nature genetics, 2019-01, Vol.51 (1), p.96-105

2019

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2

Molecular and cellular endocrinology, 2021-01, Vol.519, p.111063-111063, Article 111063

Hwa, Vivian

2021

Volltextzugriff (PDF)

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

Endocrine reviews, 2019-04, Vol.40 (2), p.476-505

2019

Volltextzugriff (PDF)

Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2

Journal of clinical research in pediatric endocrinology, 2017-12, Vol.9 (Suppl 2), p.1-8

2017

Volltextzugriff (PDF)

Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density

The journal of clinical endocrinology and metabolism, 2017-12, Vol.102 (12), p.4568-4577

2017

Volltextzugriff (PDF)

Genetic causes of growth hormone insensitivity beyond GHR

Reviews in endocrine & metabolic disorders, 2021-03, Vol.22 (1), p.43-58

2021

Volltextzugriff (PDF)

Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation

Endocrinology (Philadelphia), 2019-06, Vol.160 (6), p.1363-1376

2019

Volltextzugriff (PDF)

A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

Journal of clinical research in pediatric endocrinology, 2019-12, Vol.11 (4), p.432-438

2019

Volltextzugriff (PDF)

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1

Hormone research in paediatrics, 2018-01, Vol.89 (3), p.205-210

2018

Volltextzugriff (PDF)

Skeletal overgrowth in a pre-pubescent child treated with pan-FGFR inhibitor

Heliyon, 2024-06, Vol.10 (11), p.e30887-e30887, Article e30887

2024

Volltextzugriff (PDF)

The growth hormone cascade and its role in mammalian growth

Hormone research, 2009-04, Vol.71 Suppl 2, p.36-40

2009

Volltextzugriff (PDF)

STAT5b deficiency: Lessons from STAT5b gene mutations

Best Practice & Research Clinical Endocrinology & Metabolism, 2011-02, Vol.25 (1), p.61-75

2011

Volltextzugriff (PDF)

In Vitro and in Vivo Characterization of MOD-4023, a Long-Acting Carboxy-Terminal Peptide (CTP)-Modified Human Growth Hormone

Molecular pharmaceutics, 2016-02, Vol.13 (2), p.631-639

2016

Volltextzugriff (PDF)

Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R)

The journal of clinical endocrinology and metabolism, 2012-02, Vol.97 (2), p.E243-E247

2012

Volltextzugriff (PDF)

IGFALS Gene Dosage Effects on Serum IGF-I and Glucose Metabolism, Body Composition, Bone Growth in Length and Width, and the Pharmacokinetics of Recombinant Human IGF-I Administration

The journal of clinical endocrinology and metabolism, 2014-04, Vol.99 (4), p.E703-E712

2014

Volltextzugriff (PDF)

Severe Growth Hormone Insensitivity Resulting from Total Absence of Signal Transducer and Activator of Transcription 5b

The journal of clinical endocrinology and metabolism, 2005-07, Vol.90 (7), p.4260-4266

2005

Volltextzugriff (PDF)

Familial Short Stature Caused by Haploinsufficiency of the Insulin-Like Growth Factor I Receptor due to Nonsense-Mediated Messenger Ribonucleic Acid Decay

The journal of clinical endocrinology and metabolism, 2009-05, Vol.94 (5), p.1740-1747

2009

Volltextzugriff (PDF)

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies

Hormone research in paediatrics, 2017-01, Vol.87 (6), p.412-422

2017

Volltextzugriff (PDF)

Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences

Hormone research, 2009-01, Vol.72 (3), p.129-141

2009

Volltextzugriff (PDF)

The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1204-1208

2014

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth

Frontiers in endocrinology (Lausanne), 2011, Vol.2, p.95-95

2011

Volltextzugriff (PDF)

Insulin Resistance Is Associated With Increased Serum Concentration of IGF-Binding Protein–Related Protein 1 (IGFBP-rP1/MAC25)

Diabetes (New York, N.Y.), 2006-08, Vol.55 (8), p.2333-2339

2006

Volltextzugriff (PDF)

1 – 25 von 184

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(168)
Mit Volltextzugriff
(162)

Publikationsform

Sprache

Englisch
(184)
Japanisch
(31)

Erscheinungsjahr

n.n

Thema

Science & Technology
(123)
Life Sciences & Biomedicine
(120)
Humans
(106)
Endocrinology & Metabolism
(75)
Female
(58)
Male
(55)
Child
(36)
Mutation
(34)
Animals
(30)
Adolescent
(26)
Biological And Medical Sciences
(26)
Growth Disorders - Genetics
(26)
Child, Preschool
(22)
Insulin-Like Growth Factor I - Metabolism
(20)
Stat5 Transcription Factor - Genetics
(20)
Adult
(19)
Fundamental And Applied Biological Sciences. Psychology
(19)
Pediatrics
(19)
Short Stature
(19)
Insulin-Like Growth Factor I - Genetics
(18)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

STAT5b Deficiency: An Unsuspected Cause of Growth Failure, Immunodeficiency, and Severe Pulmonary Disease

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

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

Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2

Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density

Genetic causes of growth hormone insensitivity beyond GHR

Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation

A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1

Skeletal overgrowth in a pre-pubescent child treated with pan-FGFR inhibitor

The growth hormone cascade and its role in mammalian growth

STAT5b deficiency: Lessons from STAT5b gene mutations

In Vitro and in Vivo Characterization of MOD-4023, a Long-Acting Carboxy-Terminal Peptide (CTP)-Modified Human Growth Hormone

Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R)

IGFALS Gene Dosage Effects on Serum IGF-I and Glucose Metabolism, Body Composition, Bone Growth in Length and Width, and the Pharmacokinetics of Recombinant Human IGF-I Administration

Severe Growth Hormone Insensitivity Resulting from Total Absence of Signal Transducer and Activator of Transcription 5b

Familial Short Stature Caused by Haploinsufficiency of the Insulin-Like Growth Factor I Receptor due to Nonsense-Mediated Messenger Ribonucleic Acid Decay

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies

Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences

The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

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

Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth

Insulin Resistance Is Associated With Increased Serum Concentration of IGF-Binding Protein–Related Protein 1 (IGFBP-rP1/MAC25)

Suchergebnisse filtern