Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects (2011)
- Authors:
- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; ROSENBERG, CARLA - IB
- Unidade: IB
- DOI: 10.1002/ajmg.a.33758
- Subjects: RETARDO MENTAL; FENÓTIPOS
- Language: Inglês
- Imprenta:
- Source:
- Título: American Journal of Medical Genetics Part A
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: v. 155A, n. 4, p. 725-731, 2011
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
JAILLARD, Sylvie et al. Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects. American Journal of Medical Genetics Part A, v. 155A, n. 4, p. 725-731, 2011Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33758. Acesso em: 10 fev. 2026. -
APA
Jaillard, S., Andrieux, J., Plessis, G., Krepischi, A. C. V., Lucas, J., David, V., et al. (2011). Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects. American Journal of Medical Genetics Part A, 155A( 4), 725-731. doi:10.1002/ajmg.a.33758 -
NLM
Jaillard S, Andrieux J, Plessis G, Krepischi ACV, Lucas J, David V, Brun ML, Bertola DR, David A, Belaud-Rotureau M-A, Mosser J, Lazaro L, Treguier C, Rosenberg C, Odent S, Dubourg C. Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155A( 4): 725-731.[citado 2026 fev. 10 ] Available from: https://doi.org/10.1002/ajmg.a.33758 -
Vancouver
Jaillard S, Andrieux J, Plessis G, Krepischi ACV, Lucas J, David V, Brun ML, Bertola DR, David A, Belaud-Rotureau M-A, Mosser J, Lazaro L, Treguier C, Rosenberg C, Odent S, Dubourg C. Deletion 5q12: delineation of a phenotype including mental retardation and ocular defects [Internet]. American Journal of Medical Genetics Part A. 2011 ; 155A( 4): 725-731.[citado 2026 fev. 10 ] Available from: https://doi.org/10.1002/ajmg.a.33758 - A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
- Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways
- A new form of myopathy associated with muscle hypertrophy, short stature, macroglossia and brachydactyly
- Estudo do gene PTPN11 nos pacientes afetados pela síndrome de Noonan
- Contribuição para o estudo clínico e genético da síndrome de Noonan
- 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
Informações sobre o DOI: 10.1002/ajmg.a.33758 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
