Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Maria Gabriela Obregon"'
Autor:
Mariana del Pino, Victoria Huckstadt, Francisca Diaz‐Gonzalez, Maria Gabriela Obregon, Karen E. Heath, Virginia Fano
Publikováno v:
American Journal of Medical Genetics Part A.
Publikováno v:
American Journal of Medical Genetics Part A. 185:1256-1260
Rasopathies are a group of phenotypically overlapping conditions that include Noonan, Noonan with multiple lentigines, Noonan with loose anagen hair, Costello, Cardio-facio-cutaneous, and Neurofibromatosis-Noonan syndromes. Noonan syndrome with loose
Autor:
Roxana Marino, Guillermo Notaristefano, Natalia Perez Garrido, Viviana Balbi, Alicia Belgorosky, Angélica Moresco, Maria Gabriela Obregon, Ianina Soria, Pablo Ramírez, Elisa Vaiani, Maria Sol Touzon, Gabriela Finkielstain
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 106:e2789-e2802
Context The syndrome CAH-X is due to a contiguous gene deletion of CYP21A2 and TNXB resulting in TNXA/TNXB chimeras. Objective To analyze TNXB gene status and to clinically evaluate the Ehlers–Danlos syndrome phenotype in a large cohort of Argentin
Autor:
Juan M. Sendoya, Adriana Fandiño, Andrea S. Llera, Sofía H Vidal, Maria Gabriela Obregon, Marcela D. Mena, Osvaldo L. Podhajcer, Diana Aguilar-Cortes, Angélica Moresco
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Frontiers in Genetics
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Frontiers in Genetics
Purpose: To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. Methods: This retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from
Autor:
Cristina N. Alonso, Maria Saccoliti, Hernán Eiroa, Hilda Verónica Aráoz, Ana Lia Taratuto, Maria Gabriela Obregon, Gimena Gomez, Mariana Loos, Carlos Rugilo, Lía Mayorga, Fabiana Lubieniecki, Roberto Caraballo
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100733-(2021)
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100733-(2021)
Objective To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach for the molecular diagnosis of
Autor:
Giuseppe Zampino, Anwar Baban, Fanny Kortüm, Antonio Novelli, Kerstin Kutsche, Marcello Niceta, Roberta Onesimo, Chiara Leoni, Katja Dumić Kubat, Maria Cristina Digilio, Monia Magliozzi, Maria Gabriela Obregon, Marco Tartaglia, Maria Lisa Dentici, Stephen P. Robertson, Angélica Moresco
Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::392783b53c15a635029e109c55b5ac55
http://hdl.handle.net/10807/166647
http://hdl.handle.net/10807/166647
Autor:
Jesica Galeano, Roxana Marino, Elisa Vaiani, Angela Moresco, Alicia Belgorosky, Viviana Herzovich, Maria Sol Touzon, Fabiana Lubieniecki, Noelia Dujovne, Maria Gabriela Obregon, Mariana Costanzo, Pablo Ramírez, Guillermo Chantada, Natalia Perez Garrido, Sofia Trobo
Publikováno v:
Journal of the Endocrine Society
Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome, associated with tumours such as pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumours (SLCT), multinodular goiter (MNG), cystic nephro
Publikováno v:
Archivos Argentinos de Pediatria. 116
Pai syndrome is a very rare congenital disorder characterized by medial cleft lip, nasal and facial cutaneous polyps, and pericallosal lipoma. Broad phenotypic variability exists in this condition. Neurodevelopment is usually normal. Up to date 42 ca
Publikováno v:
Archivos Argentinos de Pediatria. 113
UNLABELLED Asphyxiating thoracic dysplasia is an uncommon condition with multiple organ affectation and high neonatal mortality. It presents with short stature, short extremities, narrow thorax. With growth, there is respiratory improvement, but emer
Autor:
H. García, H. Miscione, M. del Pino, Horacio Lejarraga, M. Rodríguez Celin, Maria Gabriela Obregon, S. Buceta, C. Primomo, Virginia Fano
Publikováno v:
Anales de Pediatría, Vol 72, Iss 5, Pp 324-330 (2010)
Resumen: Introducción: La osteogénesis imperfecta es una enfermedad caracterizada por fragilidad ósea, baja estatura, alteración dentaria, escleras azules, sordera prematura y una amplia variabilidad clínica. No existe tratamiento curativo pero