Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies (2015)
- Autores:
- Autores USP: COSTA, ANTONIO RICHIERI DA - HRAC ; ROSENBERG, CARLA - IB
- Unidades: HRAC; IB
- DOI: 10.1007/s00438-015-1072-0
- Assuntos: DOENÇAS GENÉTICAS; CROMOSSOMOS HUMANOS (ANOMALIAS); MALFORMAÇÕES
- Idioma: Inglês
- Imprenta:
- Local: Heidelberg
- Data de publicação: 2015
- Fonte:
- Título do periódico: Molecular Genetics and Genomics
- ISSN: 1617-4623
- Volume/Número/Paginação/Ano: p. on-line, Jun. 2015
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
GAMBA, Bruno Faulin et al. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. Molecular Genetics and Genomics, n. Ju 2015, p. on-line, 2015Tradução . . Disponível em: https://doi.org/10.1007/s00438-015-1072-0. Acesso em: 23 abr. 2024. -
APA
Gamba, B. F., Richieri-Costa, A., Costa, S., Rosenberg, C., & Ribeiro-Bicudo, L. A. (2015). Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. Molecular Genetics and Genomics, ( Ju 2015), on-line. doi:10.1007/s00438-015-1072-0 -
NLM
Gamba BF, Richieri-Costa A, Costa S, Rosenberg C, Ribeiro-Bicudo LA. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies [Internet]. Molecular Genetics and Genomics. 2015 ;( Ju 2015): on-line.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1007/s00438-015-1072-0 -
Vancouver
Gamba BF, Richieri-Costa A, Costa S, Rosenberg C, Ribeiro-Bicudo LA. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies [Internet]. Molecular Genetics and Genomics. 2015 ;( Ju 2015): on-line.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1007/s00438-015-1072-0 - Cleft lip/palate, short stature and developmental delay in a boy with 5,6 MB interstitial deletion involving 10p15.3-p14
- Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14
- Array-CGH analysis in brazilians patients with holoprosencephaly
- 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
- Germline BAX deletion in a patient with melanoma and gastrointestinal stromal tumor. [Carta para o editor]
Informações sobre o DOI: 10.1007/s00438-015-1072-0 (Fonte: oaDOI API)
Como citar
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
