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: American Journal of Medical Genetics. Part A
- ISSN: 1552-4833
- Volume/Número/Paginação/Ano: online, p. 1-5, June 2017
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
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: 12 fev. 2026. -
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 2026 fev. 12 ] 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 2026 fev. 12 ] Available from: https://doi.org/10.1002/ajmg.a.38315 - Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
- Dupl (1) (q32-qter) e del (4) (q33-qter) pat em paciente com malformacoes congenitas multiplas e atraso do desenvolvimento neuropsicomotor
- Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]
- A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review
- 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
- Germline BAX deletion in a patient with melanoma and gastrointestinal stromal tumor. [Carta para o editor]
- TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia
- Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
- Desvendado mecanismo de mutação genética ligada à deficiência intelectual. [Depoimento]
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
