Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins (2017)
- Authors:
- Jehee, Fernanda S
- Oliveira, Valdirene T. de
- Gurgel Giannetti, Juliana - Universidade Federal de Minas Gerais (UFMG)
- Pietra, Rafaella X
- Rubatino, Fernando V. M
- Carobin, Natália V
- Vianna, Gabrielle S
- Freitas, Mariana L. de
- Fernandes, Karla S
- Ribeiro, Beatriz S. V - Universidade Federal de Minas Gerais (UFMG)
- Brüggenwirth, Hennie T
- Ali-Amin, Roza
- White, Janson J
- Akdemir, Zeynep C
- Jhangiani, Shalini N
- Gibbs, Richard A
- Lupski, James R
- Varela, Monica C
- Koiffmann, Celia Priszkulnik
- Rosenberg, Carla
- Carvalho, Cláudia M. B
- USP affiliated authors: KOIFFMANN, CELIA PRISZKULNIK - IB ; ROSENBERG, CARLA - IB
- Unidade: IB
- DOI: 10.1002/ajmg.a.38315
- Subjects: DOENÇAS GENÉTICAS; GENÉTICA MÉDICA; DELEÇÃO DE GENES; FENÓTIPOS; OBESIDADE; RETARDO MENTAL
- Keywords: Atypical Prader–Willi Syndrome; Blended phenotype; Dual genetic diagnosis; Mosaicism; PTHS
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: American Journal of Medical Genetics. Part A
- ISSN: 1552-4833
- Volume/Número/Paginação/Ano: online, p. 1-5, June 2017
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: green
-
ABNT
JEHEE, Fernanda S et al. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins. American Journal of Medical Genetics. Part A, p. 1-5, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38315. Acesso em: 28 abr. 2024. -
APA
Jehee, F. S., Oliveira, V. T. de, Gurgel Giannetti, J., Pietra, R. X., Rubatino, F. V. M., Carobin, N. V., et al. (2017). Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins. American Journal of Medical Genetics. Part A, 1-5. doi:10.1002/ajmg.a.38315 -
NLM
Jehee FS, Oliveira VT de, Gurgel Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, Freitas ML de, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann CP, Rosenberg C, Carvalho CMB. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 1-5.[citado 2024 abr. 28 ] Available from: https://doi.org/10.1002/ajmg.a.38315 -
Vancouver
Jehee FS, Oliveira VT de, Gurgel Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, Freitas ML de, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann CP, Rosenberg C, Carvalho CMB. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 1-5.[citado 2024 abr. 28 ] Available from: https://doi.org/10.1002/ajmg.a.38315 - Dupl (1) (q32-qter) e del (4) (q33-qter) pat em paciente com malformacoes congenitas multiplas e atraso do desenvolvimento neuropsicomotor
- Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
- Number of rare germline CNVs and TP53 mutation types
- Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion
- Complex phenotype associated with 17q21.31 microdeletion
- Array-CGH analysis in patients with Goldenhar Syndrome
- Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
- Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
- A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review
- Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]
Informações sobre o DOI: 10.1002/ajmg.a.38315 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
