Literature DB >> 21271672

A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome.

Carolina R Lincoln-de-Carvalho1, Fabíola M P Vicente, Társis A P Vieira, Maricilda P de Mello, Antonia P Marques-de-Faria.   

Abstract

Entities:  

Mesh：

Year:  2011        PMID： 21271672     DOI： 10.1002/ajmg.a.33458

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  2 in total

1.  Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome.

Authors:  Samar Nasser Chehimi; Vanessa Tavares Almeida; Amom Mendes Nascimento; Évelin Aline Zanardo; Yanca Gasparini de Oliveira; Gleyson Francisco da Silva Carvalho; Beatriz Martins Wolff; Marilia Moreira Montenegro; Nilson Antônio de Assunção; Chong Ae Kim; Leslie Domenici Kulikowski
Journal:  Clinics (Sao Paulo)       Date:  2022-05-28       Impact factor: 2.898

2.  Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.

Authors:  Samar N Chehimi; Évelin A Zanardo; José R M Ceroni; Amom M Nascimento; Fabrícia A R Madia; Alexandre T Dias; Gil M N Filho; Marília M Montenegro; Jullian Damasceno; Thaís V M M Costa; Yanca Gasparini; Chong A Kim; Leslie D Kulikowski
Journal:  Mol Genet Genomic Med       Date:  2019-09-30       Impact factor: 2.183
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.