Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.
about
A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlationAllelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2Dominant-negative inhibition of M-like potassium conductances in hair cells of the mouse inner earGenetics of hearing loss: focus on DFNA2.In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss.Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsVestibular role of KCNQ4 and KCNQ5 K+ channels revealed by mouse models.Vestibular function in families with inherited autosomal dominant hearing loss.Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing lossAssociation of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.Phenotype of a Belgian Family With 6p25 Deletion Syndrome.Altered phenotype of the vestibular organ in GLAST-1 null mice.Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.Effect of M-current modulation on mammalian vestibular responses to transient head motion.KCNQ4 K(+) channels tune mechanoreceptors for normal touch sensation in mouse and man.Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.Phenotype description of a novel DFNA9/COCH mutation, I109T.
P2860
Q24646997-06548BD2-6EDF-4E11-AD2C-BB37DB26D056Q29147522-E6FD3D44-7C0C-412E-A2BA-F710E6CA0F1DQ30440196-31711A0A-CEA2-455F-A6FE-53B9357648A6Q30453431-C555F25E-EC03-40F9-945D-1331FE5962BFQ30466603-049889A4-8BDB-453B-86D0-B9E7F91F644FQ35544452-0A2B811E-B53F-4189-935E-5A1C16850284Q36725074-56BA91D2-8B5B-4C39-94F7-B8900B26CF49Q36955586-4387ADC5-3F5A-4859-8592-7A8B85ABA9A8Q37060221-FC473AB7-F15B-4ADF-8C3F-E8507A7369A5Q37260017-D2D2C5A4-5B6C-4A1B-8B4B-7F0282C20A2EQ39723946-5E27A5B7-15CE-4327-9E7A-757F6F6C1119Q42028039-C7B4318E-E083-4FE2-913A-5C3C8F97C8C9Q42137072-A2DB1CED-1B7D-42B8-8A1B-ED5CA7C2EE23Q44405356-0C9FAE3E-836B-4AD1-A64A-8D5B919330C2Q44406379-ECD4C713-A90E-4ED2-BF10-88B70CEED635Q48097842-A92559DE-BB8E-4A9B-8657-471627300EF3Q48134020-18E76332-9C59-4F1D-BDCD-1239DE81C0ADQ50432426-6F66E300-7A73-40F5-A836-C7267996855DQ50433925-E38A0C8E-0200-46A6-B3A1-9EAE847CF41BQ50457155-B703D839-EF3A-4F52-825D-B60B556B4C71
P2860
Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Longitudinal and cross-section ...... arge Dutch DFNA2/KCNQ4 family.
@en
Longitudinal and cross-section ...... arge Dutch DFNA2/KCNQ4 family.
@nl
type
label
Longitudinal and cross-section ...... arge Dutch DFNA2/KCNQ4 family.
@en
Longitudinal and cross-section ...... arge Dutch DFNA2/KCNQ4 family.
@nl
prefLabel
Longitudinal and cross-section ...... arge Dutch DFNA2/KCNQ4 family.
@en
Longitudinal and cross-section ...... arge Dutch DFNA2/KCNQ4 family.
@nl
P2093
P2860
P1476
Longitudinal and cross-section ...... arge Dutch DFNA2/KCNQ4 family.
@en
P2093
Cor W Cremers
Els M R De Leenheer
G van Camp
Patrick L M Huygen
Paul J Coucke
Ronald J C Admiraal
P2860
P304
P356
10.1177/000348940211100312
P433
P577
2002-03-01T00:00:00Z