Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.
about
Molecular determinants of neural crest migrationTranscriptional regulation of cardiac development: implications for congenital heart disease and DiGeorge syndrome.An Fgf8 mouse mutant phenocopies human 22q11 deletion syndromePrenatal diagnosis of the 22q11.2 deletion syndrome.Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.When half is not enough: gene expression and dosage in the 22q11 deletion syndrome.Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis.Association study of a promoter polymorphism of UFD1L gene with schizophrenia.Functional attenuation of UFD1l, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos.Engineering a broken heart
P2860
Q28190878-5F844558-2DF2-4C79-82D1-AE7EBAA0BEE7Q34096014-551D6FBD-8CFF-4910-B0DA-7B430083CE06Q34148921-42EE9647-2019-431E-A566-F5AB3625E5A2Q34242714-C8667065-4D10-4860-9B74-90C14CAE92F9Q35388414-AAE0E480-08EF-439A-A49A-A356EC63AA47Q35621987-318E817C-B878-4673-913D-1155B119F988Q36914294-92292ED1-9DE1-4484-BE48-85A55350C5D6Q38436223-B73C07AC-B994-44AE-9906-A17A80374D87Q40787272-3D131A64-CD18-4D26-AD2E-B32762099B6BQ52108531-2F693951-5F2A-4B84-B3A2-F95ED8DD13D9Q57813145-92DEE398-FB11-46E9-BB5A-FB4FCD01113C
P2860
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Mutations of UFD1L are not res ...... tions within chromosome 22q11.
@en
Mutations of UFD1L are not res ...... tions within chromosome 22q11.
@nl
type
label
Mutations of UFD1L are not res ...... tions within chromosome 22q11.
@en
Mutations of UFD1L are not res ...... tions within chromosome 22q11.
@nl
prefLabel
Mutations of UFD1L are not res ...... tions within chromosome 22q11.
@en
Mutations of UFD1L are not res ...... tions within chromosome 22q11.
@nl
P2093
P50
P356
P1476
Mutations of UFD1L are not res ...... tions within chromosome 22q11.
@en
P2093
C Papapetrou
H Sutherland
P304
P356
10.1086/302468
P407
P577
1999-07-01T00:00:00Z