Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
about
Transcriptional regulation of cranial sensory placode developmentRecurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocksEyes absent 1 (Eya1) is a critical coordinator of epithelial, mesenchymal and vascular morphogenesis in the mammalian lung.The Eyes Absent proteins in development and disease.Establishing the pre-placodal region and breaking it into placodes with distinct identities.Six1 transcription factor is critical for coordination of epithelial, mesenchymal and vascular morphogenesis in the mammalian lung.A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.Associations between EYA1 single-nucleotide polymorphisms and non-syndromic orofacial clefts in Western Han Chinese.A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
P2860
Q28081644-62960697-6933-46D4-AE15-D1B4E3840930Q34124525-19D6291B-4285-4539-9281-ADF308AB3CB9Q34496683-D3CF62A4-FE62-459F-B806-96651748A28EQ36597900-B67B501A-1DF0-4BB1-9631-17B0F63BA39EQ38191727-B85B7100-3606-42B7-9C66-A1B97511E855Q42757144-46DC3EA1-ED65-423F-AE06-8FA6D95C9EFAQ48010490-3839CB3B-2985-49EF-9492-68032BC2AAC4Q48212175-3EE6D6A8-5E6A-4518-8F8D-E0CAA8FD4CEBQ51060277-D021350C-6570-4A30-AD0B-022F9FD6F220Q53414942-325155D8-4DEA-4342-A8FD-31C577BDAC97Q55140300-F81F2540-DD48-42A2-AA8E-C64F5F59E62A
P2860
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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name
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
@en
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
@nl
type
label
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
@en
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
@nl
prefLabel
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
@en
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
@nl
P2093
P2860
P1476
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
@en
P2093
Arellano B
Estefanía E
García-Berrocal JR
Ramírez-Camacho R
Trinidad A
Verdaguer JM
P2860
P304
P356
10.1111/J.1529-8817.2005.00204.X
P407
P577
2006-01-01T00:00:00Z