Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Javier Aisenberg"'
Autor:
Steven Ghanny, Aliza Zidell, Helio Pedro, Sjoerd D. Joustra, Monique Losekoot, Jan M. Wit, Javier Aisenberg
Publikováno v:
JCRPE, Vol 13, Iss 4, Pp 461-467 (2021)
Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males. These characteristic include almost universal congenital central hypothyroidism (CeH) with disharmonious pubertal develop
Externí odkaz:
https://doaj.org/article/8b1e0cff09ee45c983376646b4e3544f
Autor:
Jaime Sánchez del Pozo, Alessia David, Andrew Dauber, Philippe Backeljauw, Martin O. Savage, Merve Emecen Sanli, Lina Merjaneh, Louise A. Metherell, Kanimozhi Vairamani, Ron G. Rosenfeld, Paula Casano-Sancho, Vivian Hwa, Javier Aisenberg
Publikováno v:
Journal of the Endocrine Society
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Context: Autosomal-recessive mutations in the growth hormone receptor (GHR) are the most common causes for primary growth hormone insensitivity (GHI) syndrome with classical GHI phenotypically characterized by severe short stature and marked insulin-
Autor:
Jessica Estatico, Miroslav Dumić, Mona Hafez, Assaf Holtzman, Paul Martin Holterhus, Ali Saad, Marco Cappa, Di Li, Maria I. New, Raquel Romero, James T. Burns, Alicia Belgorosky, Nazli Gonc, Mone Zaidi, Tina Cheng, Noha Musa, Nurgun Kandemir, Berenice B. Mendonca, Saleel Fatima, Dauood Alam, Ahmed Khattab, Javier Aisenberg, Sun Li, Munier Nour, Simran Rahi, Samarth Dhawan, Ali S. Alzahrani, Najoua Khaloul, Danièle Pacaud, Ursula Kuhnle-Krahl, Ilhem Charfeddine, Tony Yuen, Alev Ozon, Ameet Kumar, Katja Dumic, Moez Gribaa, Shozeb Haider, Maryam Razzghy Azar, Ayfer Alikasifoglu
Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7a2dcd3ac0c6a1cfe7d2094c95e805e
https://europepmc.org/articles/PMC5347606/
https://europepmc.org/articles/PMC5347606/
Autor:
Adrian van Rhijn, Emma L. Edghill, Ewan R. Pearson, G. Jan Bruining, Deborah J G Mackay, Jerry Wales, Frances M. Ashcroft, Jennifer F. Antcliff, I. Karen Temple, Javier Aisenberg, Pål R. Njølstad, Shubha Srinivasan, Anna L. Gloyn, Shaun Gorman, Sian Ellard, Timothy M. Frayling, Peter Proks, Zdenek Sumnik, Neville J. Howard, Penelope M. Clark, Julian P.H. Shield, Jose M. C. L Silva, Janne Molnes, Annabelle S. Slingerland, Andrew T. Hattersley
Publikováno v:
New England Journal of Medicine, 350, 20-31. Massachussetts Medical Society
University of Bristol-PURE
University of Dundee
University of Bristol-PURE
University of Dundee
BACKGROUND: Patients with permanent neonatal diabetes usually present within the first three months of life and require insulin treatment. In most, the cause is unknown. Because ATP-sensitive potassium (K(ATP)) channels mediate glucose-stimulated ins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ef19a3cfae21ca5da6dd81a00edd376
https://ora.ox.ac.uk/objects/uuid:bed79a6b-e297-4803-994f-9cc2f6bbe95f
https://ora.ox.ac.uk/objects/uuid:bed79a6b-e297-4803-994f-9cc2f6bbe95f
Autor:
Michael A. Derr, Vivian Hwa, Peng Fang, Yardena Tenenbaum-Rakover, Ron G. Rosenfeld, Javier Aisenberg
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 96:E1896-E1904
GH insensitivity (GHI) is a condition characterized by pronounced IGF-I deficiency and severe short stature. We previously identified a novel compound heterozygous GH receptor (GHR) mutation, GHR:p.R229H/c.899dupC, in a patient presenting with GHI. T
Autor:
Mary Ellen Riordan, Francine R. Kaufman, Mary Halvorson, Timothy S. Bailey, Chandrasekhar P. Varma, Holly C. Schachner, Georgeanna J. Klingensmith, Javier Aisenberg, Maria T. Viggiani, Jane F. Wallace, Scott Pardo, Eric Cruz
Publikováno v:
Pediatric Diabetes. 14:350-357
The purpose of this study was to assess the performance and acceptability of a blood glucose meter coupled with a gaming system for children, adolescents, and young adults with type 1 diabetes. During an in-clinic visit, duplicate blood samples were
Autor:
Ron G. Rosenfeld, Alireza Shamshiri, Vivian Hwa, B.G. Nedrebø, Lars Libuda, Katja Bolzenius, Erdem Durmaz, Rachel Rothenberg, Michael A. Derr, Melissa W. Ko, Katharina Diethelm, M. Marcus, Senay Haspolat, Anette E. Buyken, Thomas Remer, Atoosa Gharib, Garry L. Warne, E.S. Husebye, Mahtab Farahmand Monfared, Jacqueline K. Hewitt, K.C. Taylor, Ellen K. Feder, Klaus Mohnike, Amy Chartoff, Mustafa Serteser, J. Lind, E. Svarstad, K. Løvås, M.P. Epstein, M. Bouzyk, J.I. Sørheim, Helio Pedro, Satz Mengensatzproduktion, Winfried Barthlen, Druck Reinhardt Druck Basel, W. Tang, C.M. Small, Wolfgang Mohnike, Javier Aisenberg, Leo Dunkel, Shadab Salehpour, Alice Dreger, S.L. Sherman, Özgür Duman, Rachel Sugalski, Grant T. Liu, Lynn Gillam, M.M. Wilson, Parvin Alipour, Laleh Ardeshirpour, H. Boman, Maryam Razzaghy-Azar, Sema Akçurin, Valerie Auyeung, Barbara Griefahn, David E. Sandberg
Publikováno v:
Hormone Research in Paediatrics. 74:I-VI
Autor:
Javier Aisenberg, Najiba Lahlou, Jeannete Linares, Paul B. Kaplowitz, Eija Lundstrom, Joshua Yang, Nancy Wright, Fernando Cassorla, Daniela Purcea, Karen O Klein
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 29(11)
Triptorelin is an established treatment for central precocious puberty (CPP) as 1- and 3-month formulations. The current triptorelin 22.5 mg 6-month formulation is approved for prostate cancer therapy. This is the first study in patients with CPP.The
Autor:
Steven Ghanny, Javier Aisenberg
Publikováno v:
Pediatric annals. 43(3)
Publikováno v:
Pediatric Diabetes. 1:204-208
Residential summer camps for youths with diabetes may have a positive effect on glycemic control. Hemoglobin A1c (HbA1c) is considered the best measure of control, but it reflects too long a period to evaluate a camp session. The fructosamine test re