Zobrazeno 1 - 10 of 43 pro vyhledávání: '"Juan J Heinrich"'
1
Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System
Autor: Liliana Karabatas, Viviana Pipman, Horacio M. Domené, Eva M. Lescano, María Gabriela Ropelato, María C. Guida, Hector Jasper, Paula Scaglia, María Gabriela Ballerini, Rodolfo Rey, Ana Keselman, Juan J. Heinrich, Sonia Bengolea, Alicia Martínez, Miguel Blanco
Publikováno v: Hormone Research in Paediatrics. 80:413-423
Background: In acid-labile subunit (ALS)-deficient families, heterozygous carriers of IGFALS gene mutations are frequently shorter than their wild-type relatives, suggesting that IGFALS haploinsufficiency could result in short stature. We have charac
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8f640949c977fd2d39c86063b0982f3d
https://doi.org/10.1159/000355412
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2
Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained byTPITGene Mutations
Autor: Carl-Joachim Partsch, Pierre Déchelotte, Thierry Brue, Begüm Atasay, Dominique Beckers, Anne Barlier, Leo Dunkel, Patricia A. Donohoue, Monique De Vroede, Jacques Weill, M. Gueydan, Georges Malpuech, Marc Nicolino, Jennifer H. Kyllo, Christie Riddell, B. Pigeon, Bruno Allolio, C. Noordam, Cheri Deal, Juan J. Heinrich, Sophie Vallette-Kasic, Anne-Marie Pulichino, Michel David, Felix G. Riepe, Jacques Drouin, Raja Brauner, Merih Berberoğlu, Matti Hero, Stefanie Hahner, Martin Fassnacht, Guy Van Vliet, Alain Enjalbert, Francis de Zegher, Elizabeth A. Cummings, Wolfgang G. Sippell, Sevket Yigit
Publikováno v: The Journal of clinical endocrinology and metabolism, Vol. 90, no.3, p. 1323-31 (2005)
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2005, 90, pp.1323-1331
Journal of Clinical Endocrinology and Metabolism, 90, 3, pp. 1323-31
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2005, 90, pp.1323-1331
Journal of Clinical Endocrinology and Metabolism, 90, 1323-31
Item does not contain fulltext Tpit is a T box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells. We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d838a81f80b753f3e94c77571d41bb52
https://doi.org/10.1210/jc.2004-1300
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3
Congenital Secondary Hypothyroidism Due to a Mutation C105Vfs114X Thyrotropin-β Mutation: Genetic Study of Five Unrelated Families from Switzerland and Argentina
Autor: Naseem Malik, Juan J. Heinrich, Ana Chiesa, Jean-Marc Vuissoz, Horacio Domene, Johnny Deladoëy, Laura Gruñeiro-Papendieck, Primus E. Mullis
Publikováno v: Thyroid. 13:553-559
We identified five patients with congenital secondary hypothyroidism with isolated thyrotropin (TSH) deficiency originating from three and two unrelated Argentinean and Swiss families, respectively. The affected patients presented with both low TSH a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::191d2c076bc65d10db88c55271388f21
https://doi.org/10.1089/105072503322238818
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4
Estrogen Priming Effect on Growth Hormone (GH) Provocative Test: A Useful Tool for the Diagnosis of GH Deficiency1
Autor: Alicia Martínez, Patricia Pennisi, M E Escobar, Hector Jasper, M. Gabriela Ropelato, Horacio Domene, Juan J. Heinrich
Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 85:4168-4172
We have studied the effect of estradiol (E2)on the GH-insulin-like growth factor (GH-IGF) axis in 15 prepubertal GH deficiency (GHD) children and 44 prepubertal or early pubertal children with idiopathic short stature (SS). All of them received a dai
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1193f2c6fc97660f93085cadd686fd6a
https://doi.org/10.1210/jcem.85.11.6928
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5
Nocturnal TSH Surge and TRH Test Response in the Evaluation of Thyroid Axis in Hypothalamic Pituitary Disorders in Childhood
Autor: Alicia Martínez, César Bergadá, Juan J. Heinrich, Ana Chiesa, Laura Gruñeiro-Papendieck
Publikováno v: Hormone Research in Paediatrics. 50:252-257
We studied, by means of TSH nocturnal secretion and TRH test, 42 children (4.2–19.9 years) with hypothalamic pituitary disorders and 24 healthy euthyroid children (5.7–15.4 years) as control group. Patients were divided according to their serum v
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a1ebbefa193927f4532d08aea29948
https://doi.org/10.1159/000023286
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6
Identification of the first patient with a confirmed mutation of the JAK-STAT system
Autor: Ron G. Rosenfeld, Katherine A. Pratt, Brian M. Little, Liliana Bezrodnik, Juan J. Heinrich, Hector Jasper, Vivian Hwa, Eric M. Kofoed, Caroline K. Buckway, Junko Tsubaki, Alejandro Tepper, Katie A. Woods
Publikováno v: Pediatric Nephrology. 20:303-305
Growth hormone insensitivity (GHI) has been attributable, classically, to mutations in the gene for the GH receptor. After binding to the GH receptor, GH initiates signal transduction through a number of pathways, including the JAK-STAT pathway. We d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9a05174339c6ec216a4cf4f527ed41
https://doi.org/10.1007/s00467-004-1678-7
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7
Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system
Autor: Horacio M, Domené, Paula A, Scaglia, Alicia S, Martínez, Ana C, Keselman, Liliana M, Karabatas, Viviana R, Pipman, Sonia V, Bengolea, María C, Guida, María G, Ropelato, María G, Ballerini, Eva M, Lescano, Miguel A, Blanco, Juan J, Heinrich, Rodolfo A, Rey, Héctor G, Jasper
Publikováno v: Hormone research in paediatrics. 80(6)
In acid-labile subunit (ALS)-deficient families, heterozygous carriers of IGFALS gene mutations are frequently shorter than their wild-type relatives, suggesting that IGFALS haploinsufficiency could result in short stature. We have characterized IGFA
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d5425e2a534bf962fb6688ddff6a58e9
https://pubmed.ncbi.nlm.nih.gov/24335034
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8
Peripheral Venous Thrombosis in Children and Adolescents with Adipsic Hypernatremia Secondary to Hypothalamic Tumors
Autor: Luis Aversa, Juan J. Heinrich, Ignacio Bergadá
Publikováno v: Hormone Research in Paediatrics. 61:108-110
Objective: To determine the clinical presentation and laboratory follow-up in patients with the syndrome of adipsic hypernatremia complicated with a peripheral thrombosis event. Methods: Report of 3 patients (6–19 years old) with chronic hypernatre
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c5f73954fcc12e0185d34e1448fae74
https://doi.org/10.1159/000075374
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9
A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease
Autor: Vivian Hwa, Alicia Martínez, Liliana Bezrodnik, Ron G. Rosenfeld, Paula Scaglia, María Isabel Gaillard, Horacio M. Domené, Daniela Di Giovanni, Peng Fang, Eva Feigerlova, María Gabriela Ballerini, Hector Jasper, Juan J. Heinrich
Publikováno v: The Journal of clinical endocrinology and metabolism. 97(5)
Signal transducer and activator of transcription 5b (STAT5b) deficiency, first reported in a patient who carried a p.Ala630Pro missense mutation in the Src homology 2 (SH2) domain, results in a rare clinical condition of GH insensitivity (GHI), IGF-I
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef2a9cd4735dd3b7c49784295ecf5e8
https://pubmed.ncbi.nlm.nih.gov/22419735
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