Zobrazeno 1 - 7
of 7
pro vyhledávání: '"M I, de Michelena"'
Autor:
S. J. Price, Aubrey Milunsky, H. F. L. Mark, Xin Li Huang, M. I. De Michelena, Paul J. Benke, R. Harston
Publikováno v:
Clinical Genetics. 68:513-519
Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA are predicted to have a neocentromere and have been referred to as mitotically stable neocentromere marker chromosomes (NMCs). We report the molecular cytogenetic characterization
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23161b3ae868a13426eda58707e0976b
https://doi.org/10.1111/j.1399-0004.2005.00523.x
https://doi.org/10.1111/j.1399-0004.2005.00523.x
Autor:
M. I. De Michelena, Isabella Lopes Monlleó, G. T. N. Besley, R. Giugliani, M.C.V. Garreton, Andréa de Rezende Duarte, Karen Tylee, Ana Carolina Brusius-Facchin, M. Ascurra, Angelina Xavier Acosta, Agnes Cristina Fett-Conte, Sandra Leistner-Segal, Christoph T. Zimmer, Ida Vanessa Doederlein Schwartz, R. P. Oliveira Sobrinho, Márcia Gonçalves Ribeiro, Marshall Italo Barros Fontes, Raquel Boy, Dafne Dain Gandelman Horovitz, P. Mabe
In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d015a6878cee7ea7a269a20e09e7d25d
https://hdl.handle.net/20.500.12866/8060
https://hdl.handle.net/20.500.12866/8060
Publikováno v:
American Journal of Medical Genetics. 45:679-682
Although the effect of maternal age as a risk factor for Down syndrome (DS) is well known, the role of paternal age in the cause of DS has not been clearly established. To investigate this phenomenon we conducted a case-control study between July 198
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89313b72435aeab30149f4161967c84b
https://doi.org/10.1002/ajmg.1320450605
https://doi.org/10.1002/ajmg.1320450605
Publikováno v:
American Journal of Medical Genetics. 43:697-700
We report on an infant with multiple congenital anomalies and mosaic trisomy 8 [corrected]. Clinical findings are presented, and compared with those of the 24 cases previously reported. Some unusual characteristics found in this patient include macro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7e8490725d750bd1c28491148138514
https://doi.org/10.1002/ajmg.1320430409
https://doi.org/10.1002/ajmg.1320430409
Publikováno v:
Clinical genetics. 68(6)
Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA are predicted to have a neocentromere and have been referred to as mitotically stable neocentromere marker chromosomes (NMCs). We report the molecular cytogenetic characterization
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2ad02b45822e01e2ddd9b8d1470513d3
https://pubmed.ncbi.nlm.nih.gov/16283881
https://pubmed.ncbi.nlm.nih.gov/16283881
Autor:
M I, de Michelena, A, Stachurska
Publikováno v:
Clinical dysmorphology. 2(2)
We describe a female infant with a combination of hamartomas and limb reduction anomalies, which might be caused by a human gene homologous to the mouse mutant disorganization (Ds) gene. The family history suggests a paternal uncle may also have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::da58d3b8f7844e25cfc8416ab0eca3e8
https://pubmed.ncbi.nlm.nih.gov/8281274
https://pubmed.ncbi.nlm.nih.gov/8281274
Autor:
M. I. De Michelena, Patricia Campos
Publikováno v:
Journal of medical genetics. 28(3)
We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to two previously reported cases with an identical chromosomal aberration provide further support for the delineation of this entity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e7a654d955a1da143fae520ccceb18b
https://pubmed.ncbi.nlm.nih.gov/2051458
https://pubmed.ncbi.nlm.nih.gov/2051458