Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Josefina Chinton"'
Autor:
Josefina Chinton, Victoria Huckstadt, Maria Eugenia Foncuberta, Maria Mercedes Perez, Mara Cecilia Bonetto, Luis Pablo Gravina, María Gabriela Obregon
Publikováno v:
American Journal of Medical Genetics Part A. 188:2505-2508
Noonan syndrome (NS) is caused by pathogenic variants in genes involved in the RAS/MAPK pathway. On the other hand, 22q11.2 Deletion Syndrome (22q11.2DS) is caused by heterozygous microdeletion on chromosome 22q11.2. The clinical characteristics of b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4236957eb15c730194da016333f26f86
https://doi.org/10.1002/ajmg.a.62862
https://doi.org/10.1002/ajmg.a.62862
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5655c8e3e4ed32f5f4861ca3e2f0b4b4
https://doi.org/10.1002/ajmg.a.62089
https://doi.org/10.1002/ajmg.a.62089
Autor:
Mafalda Mucciolo, María Gabriela Obregon, Francesca Romana Lepri, Antonio Novelli, Josefina Chinton, Luis Pablo Gravina, Victoria Huckstadt
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(2)
Noonan syndrome (NS, OMIM 163950) is a common autosomal dominant RASopathy caused mainly by gain-of-function germline pathogenic variants in genes involved in the RAS/MAPK signaling pathway. LZTR1 gene has been associated with both dominant and reces
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a36e610e9ccf38717f6f98e94a40871a
https://pubmed.ncbi.nlm.nih.gov/31825158
https://pubmed.ncbi.nlm.nih.gov/31825158
Publikováno v:
Archivos argentinos de pediatría, Volume: 117, Issue: 5, Pages: 330-337, Published: 01 OCT 2019
Introducción. Las RASopatías son un conjunto de síndromes fenotípicamente superpuestos causados por mutaciones en genes implicados en la vía RAS/MAPK. La herencia es autosómica dominante, presentan características clínicas comunes, como baja
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccfea1af466e35f3b8b867689e3e418a
https://pubmed.ncbi.nlm.nih.gov/31560489
https://pubmed.ncbi.nlm.nih.gov/31560489