SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma
about
Multiple functions of FADD in apoptosis, NF-κB-related signaling, and heart development in Xenopus embryosExpression of ERK signaling inhibitors Dusp6, Dusp7, and Dusp9 during mouse ear development.Variable expressivity of FGF3 mutations associated with deafness and LAMM syndromeSyndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).The Fibroblast Growth Factor signaling pathwayMolars and incisors: show your microarray IDs.Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementBcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomataGenome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.Clinical, pathological, and genetic evaluations of Chinese patient with otodental syndrome and multiple complex odontoma: Case report.Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition.Zebrafish as a model to investigate CNS myelination.Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development.Chromosome 11q13 deletion syndrome.Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic PhenotypeFgf3 and Fgf16 expression patterns define spatial and temporal domains in the developing chick inner ear.Studies of genes involved in craniofacial development and tumorigenesis: FGF3 contributes to isolated oral clefts and may interact with PAX9.Globodontia in the Otodental Syndrome: A Rare Defect of Tooth Morphology Occurring with Hearing Loss in an Eight-Year-Old.Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.
P2860
Q28276110-9E96723F-841C-43DE-9E79-FEC2E3B0B0A3Q30491894-707937FC-B297-40B0-BF85-FD58D1524A55Q33816386-C0BFE576-E9E1-479E-9063-7E07C6646270Q34325410-15067001-00CE-450A-9FA6-CB2991EBF1ACQ34467171-BD09CBA7-6487-49B1-A77F-1B665E72B7A6Q34637059-7239CBB4-F8FA-42A3-BD92-273FAE42D225Q34866333-9B86C3E7-44FE-48D2-A47A-A060CCD131FCQ36577378-57BE0FC2-4796-4DEB-8D1B-AF37D160C571Q37078872-47D5A342-5D56-4C61-B156-5C649E443B38Q37315751-310E520A-C58F-4228-87A7-C978286B4980Q37626666-EEA4DFF8-4991-425F-B98F-D6C65A35C346Q38134658-7C00A3BF-CC92-401E-860C-3ECA388986E9Q38255026-B1DA5882-CCE8-4AEB-9E4D-E0C7AF48C1F5Q39649368-C1AB9FE6-1AA9-4CE4-A0A3-2F0764DC6A46Q39676379-A1374A4A-1DA6-4829-B2AA-982D3641D554Q42617899-7E9435C6-6A4D-4D73-8EC7-50F359F93C91Q47094771-74EAC747-BBF8-4C35-A004-184BE0906714Q48875118-50CC93B3-2FB9-4BB0-BF00-39D8FA1EAA56Q50317111-D0D5EB11-C280-4722-8D04-A0DAD12FB63EQ54839341-CE62B36D-FF03-4115-AAA1-78127A94A0F6
P2860
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma
description
2007 nî lūn-bûn
@nan
2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
SNP genome scanning localizes ...... se and FADD in ocular coloboma
@ast
SNP genome scanning localizes ...... se and FADD in ocular coloboma
@en
SNP genome scanning localizes ...... se and FADD in ocular coloboma
@nl
type
label
SNP genome scanning localizes ...... se and FADD in ocular coloboma
@ast
SNP genome scanning localizes ...... se and FADD in ocular coloboma
@en
SNP genome scanning localizes ...... se and FADD in ocular coloboma
@nl
prefLabel
SNP genome scanning localizes ...... se and FADD in ocular coloboma
@ast
SNP genome scanning localizes ...... se and FADD in ocular coloboma
@en
SNP genome scanning localizes ...... se and FADD in ocular coloboma
@nl
P2093
P50
P356
P1476
SNP genome scanning localizes ...... se and FADD in ocular coloboma
@en
P2093
Cheryl Y Gregory-Evans
Donna S Mackay
Georges Wackens
Kevin Gregory-Evans
Laurence Game
Lourdes Santos-Pinto
Mariya Moosajee
Matthew D Hodges
P304
P356
10.1093/HMG/DDM204
P407
P577
2007-10-15T00:00:00Z