Juan J. Heinrich

Consejo Nacional de Investigaciones Científicas y Técnicas — Argentina

Medicine · Health Sciences

18h-index2.1kcitations50works0.02yr avg
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Research Topics

Growth Hormone and Insulin-like Growth Factors(23), Sexual Differentiation and Disorders(8), Thyroid Disorders and Treatments(7), Immunodeficiency and Autoimmune Disorders(6), Adrenal Hormones and Disorders(6)

Publications44 total

Heterozygous <b><i>IGFALS</i></b> Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System
Hormone Research in Paediatrics·2013· 40 citedOpen Access
Terapéutica con hormona de crecimiento
Archivos Argentinos de Pediatria·2012· 4 citedOpen Access
A Novel Missense Mutation in the SH2 Domain of the<i>STAT5B</i>Gene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack of Pulmonary Disease
The Journal of Clinical Endocrinology & Metabolism·2012· 43 citedOpen Access
Post-Receptor Growth Hormone Insensitivity (GHI) Associated with Severe Immune Dysfunction Caused by a Novel Bioinactive STAT5b
2011
[Pediatric emergency: adrenal insufficiency and adrenal crisis].
PubMed·2010· 1 cited
Evaluación de los niveles séricos de la proteína de unión de alta afinidad de la hormona de crecimiento humana (GHBP) y del polimorfismo del exón 3 del gen del receptor de GH en niños con talla baja idiopática
Revista Argentina de Endocrinología y Metabolismo·2010
Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication/Deletion of the X Chomosome: Clinical Implications on the Stature
Hormone Research in Paediatrics·2010· 16 citedOpen Access
Emergencia pediátrica: insuficiencia suprarrenal aguda Pediatric emergency: adrenal insufficiency and adrenal crisis
2010
Abnormal Responses to TRH in Children Born Small for Gestational Age That Failed to Catch Up
Hormone Research in Paediatrics·2009· 6 cited
Variabilidade do fenótipo de pacientes com síndrome de Noonan com e sem mutações no gene PTPN11
Arquivos Brasileiros de Endocrinologia & Metabologia·2007· 9 citedOpen Access
Normal Growth Spurt and Final Height despite Low Levels of All Forms of Circulating Insulin-Like Growth Factor-I in a Patient with Acid-Labile Subunit Deficiency
Hormone Research in Paediatrics·2007· 43 cited
Cutting Edge: Decreased Accumulation and Regulatory Function of CD4+CD25high T Cells in Human STAT5b Deficiency
The Journal of Immunology·2006· 233 citedOpen Access
Sa.86. Decreased Generation and Function of CD4 + CD25Hi T Regulatory Cells in Human STAT5b Deficiency
Clinical Immunology·2006· 3 cited
Decreased Generation and Function of CD4+CD25hi T Regulatory Cells in Human STAT5b Deficiency.
Blood·2005· 1 cited
In memoriam: César Bergadá MD (1929-2005).
PubMed·2005
Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by<i>TPIT</i>Gene Mutations
The Journal of Clinical Endocrinology & Metabolism·2005· 125 citedOpen Access
Identification of the first patient with a confirmed mutation of the JAK-STAT system
Pediatric Nephrology·2005· 14 cited
Immunodeficiency Associated with a STAT-5b Mutation and Growth Hormone Insensitivity.
Blood·2004· 1 cited
<i>SHOX</i>Haploinsufficiency and Leri-Weill Dyschondrosteosis: Prevalence and Growth Failure in Relation to Mutation, Sex, and Degree of Wrist Deformity
The Journal of Clinical Endocrinology & Metabolism·2004· 74 citedOpen Access
Deficiency of the Circulating Insulin-like Growth Factor System Associated with Inactivation of the Acid-Labile Subunit Gene
New England Journal of Medicine·2004· 243 citedOpen Access
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Frequent Co-authors

Alicia S. Martínez(14), Héctor Jasper(12), Horacio M. Domené(12), Vivian Hwa(8), Liliana Bezrodnik(8), Ron G. Rosenfeld(8), Ana Keselman(7), María Gabriela Ropelato(6), Paula Scaglia(6), C Bergadá(6), Sonia V. Bengolea(4), Wenwei Tu(4), Kira Dionis(4), Alejandro Teper(4), M. J. Gaillard(4), Marı́a Gabriela Ballerini(4), Ana Chiesa(4), P. Pennisi(3), Kari C. Nadeau(3), Alan M. Krensky(3)