H
Hector Jasper
Researcher at National Scientific and Technical Research Council
Publications - 50
Citations - 2780
Hector Jasper is an academic researcher from National Scientific and Technical Research Council. The author has contributed to research in topics: Short stature & Insulin-like growth factor-binding protein. The author has an hindex of 21, co-authored 49 publications receiving 2608 citations.
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Journal ArticleDOI
Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: Summary statement of the GH research society
Kenneth M. Attie,Bengt-Åke Bengtsson,Sandra L. Blethen,Werner F. Blum,Fergus J. Cameron,Jean Claude Carel,Lena M. S. Carlsson,John J. Chipman,Jens Sandahl Christiansen,Peter E. Clayton,David R. Clemmons,Pinchas Cohen,Stenvert L. S. Drop,Kenji Fujieda,Ezio Ghigo,Raymond L. Hintz,Ken K. Y. Ho,Mbelenge Mapoko Ilondo,Hector Jasper,Bernd Jesussek,Anne Marie Kappelgaard,Zvi Laron,Barbara Lippe,Saul Malozowski,Primus E. Mullis,Sabine M P F de MuinckKeizer-Schrama,Yoshikazu Nishi,John S. Parks,Charlotte Phelps,Michael B. Ranke,Iain C.A.F. Robinson,Ron G. Rosenfeld,Susan R. Rose,Paul Saenger,Guissepe Saggese,Martin O. Savage,Stephen M Shalet,Pierre C. Sizonenko,Christian J. Strasburger,Katsuhiko Tachibana,Toshiaki Tanaka,Michael O. Thorner,Kerstin Albertsson Wikland,Zvi Zadik +43 more
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Growth hormone insensitivity associated with a STAT5b mutation.
Eric M. Kofoed,Vivian Hwa,Brian M. Little,Kathryn (Katie) Woods,Caroline K. Buckway,Junko Tsubaki,Katherine L. Pratt,Liliana Bezrodnik,Hector Jasper,Alejandro Tepper,Juan J. Heinrich,Ron G. Rosenfeld +11 more
TL;DR: This report documents that the syndrome of growth hormone insensitivity in a teenage girl was due to a homozygous missense mutation in the gene for STAT5b, an essential component of the actions of growth hormones, as well as many other cytokine-induced functions.
Journal ArticleDOI
Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.
Horacio Domene,Sonia Bengolea,Alicia Martínez,M. Gabriela Ropelato,Patricia Pennisi,Paula Scaglia,Juan J. Heinrich,Hector Jasper +7 more
TL;DR: A 17-year-old boy with delayed onset and progression of puberty and yet minimal slowing of his linear growth is described, found to have an inactivating mutation of the IGF acid-labile subunit (IGFALS) gene.
Journal ArticleDOI
Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability
Andrew Dauber,M.T. Muñoz-Calvo,Vicente Barrios,Horacio M. Domené,Søren Kløverpris,Clara Serra-Juhé,Vardhini Desikan,Jesús Pozo,Radhika Muzumdar,Gabriel Á. Martos-Moreno,Federico Hawkins,Hector Jasper,Cheryl A. Conover,Jan Frystyk,Shoshana Yakar,Vivian Hwa,Julie A. Chowen,Claus Oxvig,Ron G. Rosenfeld,Luis A. Pérez-Jurado,Jesús Argente +20 more
TL;DR: Patients with progressive growth failure, moderate microcephaly, thin long bones, mildly decreased bone density and elevated circulating total IGF‐I, IGFBP‐3, and ‐5, acid labile subunit, and IGF‐II concentrations provide important insights into the regulation of longitudinal growth in humans.
Journal ArticleDOI
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Horacio M. Domené,Vivian Hwa,Jesús Argente,Jaan M. Wit,Cecilia Camacho-Hübner,Hector Jasper,Jesús Pozo,Hermine A. van Duyvenvoorde,Shoshana Yakar,Olga V. Fofanova-Gambetti,Ron G. Rosenfeld +10 more
TL;DR: Fourteen different mutations of the human IGFALS gene have been identified in 17 patients, suggesting that ALS deficiency may be prevalent in a subset of patients with extraordinarily low serum levels of IGF-I and IGFBP-3 that remain abnormally low upon growth hormone stimulation.