Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.

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Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.

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2015 nî lūn-bûn

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2015年学术文章

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Novel partial duplication of E ...... e in a large Brazilian family.

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Novel partial duplication of E ...... e in a large Brazilian family.

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Novel partial duplication of E ...... e in a large Brazilian family.

@en

Novel partial duplication of E ...... e in a large Brazilian family.

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Novel partial duplication of E ...... e in a large Brazilian family.

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Novel partial duplication of E ...... e in a large Brazilian family.

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P1476

Novel partial duplication of E ...... e in a large Brazilian family.

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P2093

Ana Maria S M de Moraes

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Erika L Freitas

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Leandro U Alves

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Peter L Pearson

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Silvia B Ramos

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Valter A Della-Rosa

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Vitor G L Dantas

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P2860

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

SIX2 and BMP4 mutations associate with anomalous kidney development

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing proteins

Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis

Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

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593-598

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P31

scholarly article

P356

10.3109/14992027.2015.1030511

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P433

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P478

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P50

Karina Lezirovitz

Carla Rosenberg

Regina Celia Mingroni Netto

Jeanne Oiticica

P577

2015-04-30T00:00:00Z

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P5875

275673004

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P698

25926005

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