about
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and PakistanModification of human hearing loss by plasma-membrane calcium pump PMCA2Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humansMutations of MYO6 are associated with recessive deafness, DFNB37Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessSingle-cell RNA-Seq resolves cellular complexity in sensory organs from the neonatal inner ear.Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent StutteringFrequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probandsSpatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell developmentA Grhl2-dependent gene network controls trophoblast branching morphogenesisA null mutation of mouse Kcna10 causes significant vestibular and mild hearing dysfunction.Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear.Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait.Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinographyMutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19pA mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.Challenges and solutions for gene identification in the presence of familial locus heterogeneity.Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseMutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1.Tectorin-beta (Tectb) maps to mouse chromosome 19
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Robert J Morell
@nl
Robert J Morell
@sl
Robert J. Morell
@en
Robert J. Morell
@es
type
label
Robert J Morell
@nl
Robert J Morell
@sl
Robert J. Morell
@en
Robert J. Morell
@es
altLabel
Morell RJ
@en
prefLabel
Robert J Morell
@nl
Robert J Morell
@sl
Robert J. Morell
@en
Robert J. Morell
@es
P106
P1153
7007014853
P21
P31
P496
0000-0003-1537-7356