Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry-Reference-Cited by-同舟云学术

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

Published:2019-09-30 Issue:2 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Chehimi Samar N.¹²^ORCID,Zanardo Évelin A.¹^ORCID,Ceroni José R. M.²^ORCID,Nascimento Amom M.¹^ORCID,Madia Fabrícia A. R.¹^ORCID,Dias Alexandre T.¹^ORCID,Filho Gil M. N.¹^ORCID,Montenegro Marília M.¹^ORCID,Damasceno Jullian¹^ORCID,Costa Thaís V. M. M.¹^ORCID,Gasparini Yanca¹^ORCID,Kim Chong A.²^ORCID,Kulikowski Leslie D.¹²^ORCID

Affiliation:

1. Laboratório de Citogenômica, Departamento de Patologia Faculdade de Medicina FMUSP, Universidade de São Paulo São Paulo SP Brazil

2. Unidade de Genética, Departamento de Pediatria, Instituto da Criança, Hospital das Clinicas HCFMUSP Faculdade de Medicina, Universidade de São Paulo São Paulo SP Brazil

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Financiadora de Estudos e Projetos

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.957

Reference28 articles.

1. Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements

2. Semaphorin 5A inhibits synaptogenesis in early postnatal- and adult-born hippocampal dentate granule cells