Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2 (2007)
- Authors:
- USP affiliated authors: ABRAMIDES, DAGMA VENTURINI MARQUES - FOB ; MARTELLI, LUCIA REGINA - FMRP ; RAMOS, ESTER SILVEIRA - FMRP ; COSTA, ANTONIO RICHIERI DA - HRAC ; PASSOS JUNIOR, GERALDO ALEIXO DA SILVA - FORP
- Unidades: FOB; FMRP; HRAC; FORP
- DOI: 10.1007/s11010-007-9450-5
- Subjects: ANORMALIDADES MÚLTIPLAS; ANORMALIDADES CRANIOFACIAIS; FENÓTIPOS
- Language: Inglês
- Imprenta:
- Source:
- Título: Molecular and Cellular Biochemistry
- ISSN: 0300-8177
- Volume/Número/Paginação/Ano: v. 303, n. 1/2, p. 9-17, Sept. 2007
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
SANDRIN-GARCIA, Paula et al. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Molecular and Cellular Biochemistry, v. 303, n. 1/2, p. 9-17, 2007Tradução . . Disponível em: https://doi.org/10.1007/s11010-007-9450-5. Acesso em: 01 mar. 2026. -
APA
Sandrin-Garcia, P., Abramides, D. V. M., Martelli, L. R., Ramos, E. S., Richieri-Costa, A., & Passos, G. A. S. (2007). Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Molecular and Cellular Biochemistry, 303( 1/2), 9-17. doi:10.1007/s11010-007-9450-5 -
NLM
Sandrin-Garcia P, Abramides DVM, Martelli LR, Ramos ES, Richieri-Costa A, Passos GAS. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2 [Internet]. Molecular and Cellular Biochemistry. 2007 ; 303( 1/2): 9-17.[citado 2026 mar. 01 ] Available from: https://doi.org/10.1007/s11010-007-9450-5 -
Vancouver
Sandrin-Garcia P, Abramides DVM, Martelli LR, Ramos ES, Richieri-Costa A, Passos GAS. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2 [Internet]. Molecular and Cellular Biochemistry. 2007 ; 303( 1/2): 9-17.[citado 2026 mar. 01 ] Available from: https://doi.org/10.1007/s11010-007-9450-5 - Recurrent 22q11 deletion in a sibship suggestive of parental germ-line mosaicism
- Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome
- Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia
- XX/XY chimerism in male infertility
- Familial translocation t(3;10)(p26; p11.2) involving four generations and leading to a partial trisomy 10p and monosomy 3q
- A distinct phenotype of ring chromosome 4
- Phenotype karyotype correlation in a patient with interstitial deletion 11q
- Variante da Síndrome Ullrich-Turner e Neurofibromatose Tipo I
- Phenotypic abnormalities in a familial translocation (11,18) (q231, q12.2)
- Síndrome velo-cardio-facial por translocação (2;22)
Informações sobre o DOI: 10.1007/s11010-007-9450-5 (Fonte: oaDOI API)
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