SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
about
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletionsA Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesisWhole transcriptome analysis of a reversible neurodegenerative process in Drosophila reveals potential neuroprotective genes.Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms TumorDiversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.The congenital cranial dysinnervation disorders.Phenotype analysis impacts testing strategy in patients with Currarino syndrome.Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.Immunohistochemical studies of metastatic germ-cell tumors in retroperitoneal dissection specimens: a sensitive and specific panel.Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.A phosphomimetic mutation in the Sall1 repression motif disrupts recruitment of the nucleosome remodeling and deacetylase complex and repression of Gbx2.FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.Immunoexpression of SALL4 in Wilms tumors and developing kidney.SALL1 functions as a tumor suppressor in breast cancer by regulating cancer cell senescence and metastasis through the NuRD complex.FERMT1 promoter mutations in patients with Kindler syndromeTemporal changes of Sall4 lineage contribution in developing embryos and the contribution of Sall4-lineages to postnatal germ cells in mice
P2860
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P2860
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
description
2004 nî lūn-bûn
@nan
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
SALL4 deletions are a common c ...... cy as the pathogenic mechanism
@ast
SALL4 deletions are a common c ...... cy as the pathogenic mechanism
@en
SALL4 deletions are a common c ...... cy as the pathogenic mechanism
@nl
type
label
SALL4 deletions are a common c ...... cy as the pathogenic mechanism
@ast
SALL4 deletions are a common c ...... cy as the pathogenic mechanism
@en
SALL4 deletions are a common c ...... cy as the pathogenic mechanism
@nl
prefLabel
SALL4 deletions are a common c ...... cy as the pathogenic mechanism
@ast
SALL4 deletions are a common c ...... cy as the pathogenic mechanism
@en
SALL4 deletions are a common c ...... cy as the pathogenic mechanism
@nl
P2093
P356
P1476
SALL4 deletions are a common c ...... cy as the pathogenic mechanism
@en
P2093
H Mühlendyck
J Clayton-Smith
J Kohlhase
M Leipoldt
P356
10.1136/JMG.2004.019901
P407
P577
2004-09-01T00:00:00Z