A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia.

Seabra, Catarina M; Quental, Sofia; Neto, Ana Paula; Carvalho, Filipa; Gonçalves, João; Oliveira, João Paulo; Fernandes, Susana; Sousa, Mário; Barros, Alberto; Amorim, António; Lopes, Alexandra M

Seabra, Catarina M; Quental, Sofia; Neto, Ana Paula; Carvalho, Filipa; Gonçalves, João; Oliveira, João Paulo; Fernandes, Susana; Sousa, Mário; Barros, Alberto; Amorim, António; Lopes, Alexandra M.

Afiliação

Seabra CM; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; Autonomous Section of Health Sciences, University of Aveiro, Aveiro, Portugal.
Quental S; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.
Neto AP; Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
Carvalho F; Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
Gonçalves J; Human Genetics Center, National Institute of Health Dr. Ricardo Jorge, Lisboa, Portugal.
Oliveira JP; Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
Fernandes S; Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
Sousa M; Laboratory of Cell Biology, UMIB, ICBAS, University of Porto, Porto, Portugal.
Barros A; Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
Amorim A; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; Faculty of Sciences, University of Porto, Porto, Portugal.
Lopes AM; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal. Electronic address: alopes@ipatimup.pt.

Reprod Biomed Online ; 29(3): 388-91, 2014 Sep.

Article em En | MEDLINE | ID: mdl-24912414

Assuntos

Azoospermia/genética; Criptorquidismo/genética; Deleção de Genes; Proteínas WT1/genética; Adulto; Elementos Alu; Cromossomos Humanos Par 11; Análise Mutacional de DNA; Humanos; Masculino

Palavras-chave

WT1 cryptic deletion; azoospermia; cryptorchidism; multiplex ligation-dependent probe amplification; nonallelic homologous recombination

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção de Genes / Criptorquidismo / Proteínas WT1 / Azoospermia Limite: Adult / Humans / Male Idioma: En Revista: Reprod Biomed Online Assunto da revista: MEDICINA REPRODUTIVA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Portugal

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