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Filtros : "Universidade Federal da Paraíba (UFPB)" "IB-BIO" Removidos: "CARDIOLOGIA (GENÉTICA)" "Programa e Resumos" "Simposio de Citogenetica Evolutiva e Aplicada de Peixes Neotropicais" "FFCLRP" Limpar

Filtros

USP affiliated authors
- kok, fernando (~2)
- zatz, mayana (~2)
- menck, carlos frederico martins (~1)
Date published
- 2015 (~2)
Subjects
- deficiência mental (1)
- doenças genéticas (1)
- doenças neurodegenerativas (1)
- genética molecular (1)
- genética médica (1)

Collaboration
Normalized affiliation
- universidade federal da paraíba (ufpb) (~2)
Non normalized affiliation
- department of clinical genetics, human genetics and genome research division, national research center, cairo 12311, egypt (1)
- department of pediatrics/rady children’s hospital san diego, university of california san diego, la jolla, ca 92093, usa (1)
- instituto de biología molecular y celular de rosario (ibr), consejo nacional de investigaciones científicas y técnicas (conicet) – facultad de ciencias bioquímicas y farmacéuticas, universidad nacional de rosario (unr), rosario, sf s2002lrk, argentina (1)
- laboratory for pediatric brain disease, the rockefeller university, new york, ny 10065, usa (1)
- mendelics genomic analysis, sao paulo, sp, brazil (1)

Artigo de periodico
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome (2015)
Melo, Uira S; Macedo-Souza, Lucia I; Figueiredo, Thalita; Muotri, Alysson R; Gleeson, , Joseph G; Coux, Gabriela; Armas, Pablo; Calcaterra, Nora B; Kitajima, João P; Amorim, Simone; Olávio, Thiago R; Griesi-Oliveira, Karina; Coatti, Giuliana C; Rocha, Clarissa R. R; Martins-Pinheiro, Marinalva; Menck, Carlos Frederico Martins ; Zaki, Maha S; Kok, Fernando; Zatz, Mayana ; Santos, Silvana
Source: Human Molecular Genetics. Unidades: ICB, FM, IB
Subjects: DOENÇAS NEURODEGENERATIVAS, SEQUENCIAMENTO GENÉTICO, DOENÇAS GENÉTICAS, MAPEAMENTO GENÉTICO, NEUROGENÉTICA, HEREDITARIEDADE, REPARAÇÃO DE DNA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MELO, Uira S et al. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Human Molecular Genetics, p. 1-9, 2015Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddv388. Acesso em: 04 nov. 2024.
APA
Melo, U. S., Macedo-Souza, L. I., Figueiredo, T., Muotri, A. R., Gleeson,, Coux, G., et al. (2015). Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Human Molecular Genetics, 1-9. doi:10.1093/hmg/ddv388
NLM
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CRR, Martins-Pinheiro M, Menck CFM, Zaki MS, Kok F, Zatz M, Santos S. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome [Internet]. Human Molecular Genetics. 2015 ; 1-9.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1093/hmg/ddv388
Vancouver
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CRR, Martins-Pinheiro M, Menck CFM, Zaki MS, Kok F, Zatz M, Santos S. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome [Internet]. Human Molecular Genetics. 2015 ; 1-9.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1093/hmg/ddv388
Artigo de periodico
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family (2015)
Figueiredo, Thalita; Melo, Uirá Souto; Pessoa, André Luiz Santos; Nobrega, Paulo Ribeiro; Kitajima, João Paulo; Correa, Igor; Zatz, Mayana ; Kok, Fernando; Santos, Silvana
Source: Journal of Medical Genetics. Unidades: IB, FM
Subjects: DEFICIÊNCIA MENTAL, GENÉTICA MÉDICA, GENÉTICA MOLECULAR, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FIGUEIREDO, Thalita et al. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. Journal of Medical Genetics, v. 52, n. 2, p. 123-127, 2015Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2014-102793. Acesso em: 04 nov. 2024.
APA
Figueiredo, T., Melo, U. S., Pessoa, A. L. S., Nobrega, P. R., Kitajima, J. P., Correa, I., et al. (2015). Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. Journal of Medical Genetics, 52( 2), 123-127. doi:10.1136/jmedgenet-2014-102793
NLM
Figueiredo T, Melo US, Pessoa ALS, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family [Internet]. Journal of Medical Genetics. 2015 ; 52( 2): 123-127.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1136/jmedgenet-2014-102793
Vancouver
Figueiredo T, Melo US, Pessoa ALS, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family [Internet]. Journal of Medical Genetics. 2015 ; 52( 2): 123-127.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1136/jmedgenet-2014-102793

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