Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Giorgio, Paskulin"'
Autor:
Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira, Sharbel Maluf, Andrea Kiss, Ida Vanessa D. Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 35, Iss 2, Pp 424-427 (2012)
A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and c
Externí odkaz:
https://doaj.org/article/227c1a8ecd614055a8c358884db35929
Autor:
Charles André Carvalho, André Vicente Esteves de Carvalho, Andrea Kiss, Giorgio Paskulin, Fernanda Mendes Götze
Publikováno v:
Anais Brasileiros de Dermatologia, Vol 86, Iss 4, Pp 42-45 (2011)
A monossomia parcial do braço curto do cromosomo 18 (síndrome do 18p) caracteriza-se, principalmente, por atraso na aquisição da fala, retardo mental leve a moderado e baixa estatura. Relatamos o caso de uma paciente com esta síndrome associada
Externí odkaz:
https://doaj.org/article/3a15acb3fabb40f3a1c1e6395fc16657
Publikováno v:
Jornal de Pediatria, Vol 78, Iss 6, Pp 529-532 (2002)
Objetivos: relatar o caso de um paciente com diagnóstico de síndrome de Wolfram (SW) e braquidactilia do tipo E. A síndrome de Wolfram é caracterizada pela presença de diabetes melito, diabetes insípido, atrofia do nervo óptico, alterações d
Externí odkaz:
https://doaj.org/article/06a9e63c5bd74ce786d6ba04d0506dd7
Autor:
Mana M. Mehrjouy, Giorgio Paskulin, Antonio Novelli, Mads Bak, Alessandra Renieri, Carlos Eduardo Speck-Martins, Francesco Benedicenti, Claus Hansen, Tiffany Busa, Ana Carolina S. Fonseca, Nadja Ehmke, Niels Tommerup, Angela Maria Vianna-Morgante, Maria Antonietta Mencarelli, Chantal Missirian, Kikue Terada Abe
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
FOXG1 syndrome is caused by FOXG1 intragenic point mutations, or by long-range position effects (LRPE) of intergenic structural variants. However, the size of the FOXG1 regulatory landscape is uncertain, because the associated topologically associati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a4a7bcc1c85cf9851e4a1aff69575f2
https://doi.org/10.1038/s41431-017-0011-4
https://doi.org/10.1038/s41431-017-0011-4
Autor:
Charles André, Carvalho, André Vicente Esteves de, Carvalho, Andrea, Kiss, Giorgio, Paskulin, Fernanda Mendes, Götze
Publikováno v:
Anais brasileiros de dermatologia. 86(4 Suppl 1)
Partial monosomy of the short arm of chromosome 18 (18p- syndrome) is characterized mainly by speech delay, mild to moderate mental retardation and short stature. We describe a patient with the 18p- syndrome and widespread severe keratosis pilaris an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::457953dfa59c93c17add3c9765811134
https://pubmed.ncbi.nlm.nih.gov/22068768
https://pubmed.ncbi.nlm.nih.gov/22068768
Publikováno v:
Jornal de pediatria. 78(6)
To report a case of a patient diagnosed with Wolfram Syndrome and brachydactyly type E. Wolfram Syndrome is characterized by the presence of diabetes mellitus, diabetes insipidus, atrophy of the optic nerve, alterations of the urinary tract, deafness
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::beada674389c41f0b14c54d736e480b9
https://pubmed.ncbi.nlm.nih.gov/14647736
https://pubmed.ncbi.nlm.nih.gov/14647736
Autor:
Giorgio Paskulin, Claudio Teloken, Miriam Da Costa Oliveira, Karla Hoffmann, Carlos Ary Vargas Souto
Publikováno v:
The Journal of Urology. :1637-1638
The persistent mullerian duct syndrome represents a rare form of male pseudohermaphroditism secondary to anti-mullerian hormone deficiency. We describe 2 cases of phenotypically male postpubertal patients with a uterus and tubes. Both patients presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b393034580eff4a7a67b46fce71a330
https://doi.org/10.1097/00005392-199505000-00082
https://doi.org/10.1097/00005392-199505000-00082