Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Milene Mulatinho"'
Publikováno v:
Cancer Genetics. :70
Autor:
Juan C. Llerena, Maria de Jesus Esteves Camilo, Milene Mulatinho, Héctor N. Seuánez, José Carlos Cabral de Almeida, Lúcia de Fátima Marques de Moraes, Fernando Regla Vargas, Hilda I.B. Ramos, Leila C.A. Cardoso
Publikováno v:
European Journal of Medical Genetics. 51:588-597
We studied a child with apparent monosomy of chromosome 21. Cytogenetic, FISH and microsatellite analyses revealed a 45,X,-21,+der(X)t(X;21)(q25;q21.1) karyotype resulting from a de novo, unbalanced, X;21 non-reciprocal translocation of paternal orig
Autor:
Fabiola Quintero-Rivera, Milene Mulatinho, Juan Clinton Llerena, P. Nagesh Rao, Trond P. Leren
Publikováno v:
American Journal of Medical Genetics Part A. :2284-2290
We report on a 25-year-old male with mental retardation and global developmental delay, low levels of total and LDL cholesterol and dysmorphism, which includes macrocephaly, hypertelorism, synophrys, telecanthus, prominent philtrum, low set ears, bil
Publikováno v:
Cancer Genetics. 209:244-245
Autor:
Kristin Mrasek, Anja Weise, David Hardekopf, Thomas Liehr, Fernanda B. Scalco, Milene Mulatinho, Juan C. Llerena, Nagesh Rao, Sona Pekova, Cassio Luiz de Carvalho Serao
Publikováno v:
Mulatinho, Milene; de Carvalho Serao, Cassio; Scalco, Fernanda; Hardekopf, David; Pekova, Sona; Mrasek, Kristin; et al.(2012). Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: Case report. Molecular Cytogenetics, 5(1), 30. doi: http://dx.doi.org/10.1186/1755-8166-5-30. Retrieved from: http://www.escholarship.org/uc/item/00n2q9wn
Molecular Cytogenetics
Molecular Cytogenetics, Vol 5, Iss 1, p 30 (2012)
Molecular Cytogenetics
Molecular Cytogenetics, Vol 5, Iss 1, p 30 (2012)
Background Recently, array-comparative genomic hybridization (aCGH) platforms have significantly improved the resolution of chromosomal analysis allowing the identification of genomic copy number gains and losses smaller than 5 Mb. Here we report on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0de0d69ca99cbc08c22ca9544392c7df
http://www.escholarship.org/uc/item/00n2q9wn
http://www.escholarship.org/uc/item/00n2q9wn
Autor:
Kristin Mrasek, Samarth Bhatt, Milene Mulatinho, Nadezda Kosyakova, Anja Weise, Juan C. Llerena, Sona Pekova, Elisabeth Klein, David Hardekopf, Thomas Liehr
Publikováno v:
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society. 60(5)
The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes.