Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)
about
The shape of the human language-ready brainPhenotypic subregions within the split-hand/foot malformation 1 locus.A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequenceGenome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.Characterization of new otic enhancers of the pou3f4 gene reveal distinct signaling pathway regulation and spatio-temporal patterns.Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.Human inversions and their functional consequencesDisruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.Zebrafish models of orofacial clefts.Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.Identification of direct downstream targets of Dlx5 during early inner ear development.Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?Functional characterization of tissue-specific enhancers in the DLX5/6 locus.Deletion of a Long-Range Dlx5 Enhancer Disrupts Inner Ear Development in Mice.
P2860
Q28660204-0F45B664-6DE0-4B47-B01B-2968C00C33CAQ31042460-26BE8FD3-32F1-4829-B2E6-1E8714515C54Q31155280-92AAEDD5-6DA4-4777-9315-599863D7D7EEQ33680682-97461CBA-05C9-4205-8E72-1A5C87778608Q33786756-D1A9D3CD-7655-48CB-972F-6C748269C892Q34545164-1B9817FB-A5E2-446E-9F0F-2786F69C6623Q36077972-BFA1B09E-9E74-4A63-8D5B-FE0CB0A90EC8Q38185270-ACE406AD-693F-4B22-8EC1-1E5102A1ACD0Q38631050-A7AEAC28-2D39-48CF-97C0-B9BB60E7967EQ38759731-E81EF1C0-3F53-4676-BEF0-889A43CD0B1BQ39608750-6017BCE0-D24A-436E-9780-554D48ED9D2AQ40099417-6AF42646-C094-438F-B04E-2BE6AEEE50D5Q41813578-600CC578-7071-4431-A23B-AA17920FB9B9Q50186949-BA36355E-0B41-48C5-9298-77FD9043EC67
P2860
Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Deletion of an enhancer near D ...... fects, and an inv(7)(q21.3q35)
@ast
Deletion of an enhancer near D ...... fects, and an inv(7)(q21.3q35)
@en
type
label
Deletion of an enhancer near D ...... fects, and an inv(7)(q21.3q35)
@ast
Deletion of an enhancer near D ...... fects, and an inv(7)(q21.3q35)
@en
prefLabel
Deletion of an enhancer near D ...... fects, and an inv(7)(q21.3q35)
@ast
Deletion of an enhancer near D ...... fects, and an inv(7)(q21.3q35)
@en
P2093
P2860
P1433
P1476
Deletion of an enhancer near D ...... fects, and an inv(7)(q21.3q35)
@en
P2093
Chantal Kelly
Cynthia C Morton
Heather L Ferguson
Jacob A Reiss
Kerry K Brown
P2860
P2888
P356
10.1007/S00439-009-0736-4
P577
2010-01-01T00:00:00Z
P5875
P6179
1048870719