R. Smith

发表

Single‐nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis

M. McKenna, D. McBride, G. Camp, 2007, Clinical genetics.

Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

P. Willems, P. Coucke, R. Smith, 1995, Human molecular genetics.

Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.

B J Keats, V. Sheffield, R. Swiderski, 2000, Gene.

Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.

V. Sheffield, M. Lovett, M. Batzer, 1998, Gene.

Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3

G. Utermann, A. Janecke, T. Müller, 2001, Journal of medical genetics.

The M34T allele variant of connexin 26.

G. Green, G. Van Camp, P. M. Kelley, 2000, Genetic testing.

Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome

E. Green, W. Reardon, N. Dietrich, 1999, Journal of medical genetics.

Two frequent missense mutations in Pendred syndrome.

E. Green, C. Cremers, N. Dietrich, 1998, Human molecular genetics.

Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family.

A. Ramírez, F. Lang, S. Waldegger, 2001, Genomics.

Genetics of hearing impairment.

R. Smith, S. Hone, Richard J. H. Smith, 2001, Seminars in neonatology : SN.

Autosomal recessive nonsyndromic hearing loss.

G. Van Camp, G. Camp, R. Smith, 1999, American journal of medical genetics.

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

T. Ogata, R. Kosaki, K. Kosaki, 2000, American journal of human genetics.

Gene mapping of the Usher syndromes.

W. Kimberling, R. Smith, R. Smith, 1992, Otolaryngologic clinics of North America.

Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.

N. Meyer, R. Smith, K. Fukushima, 2001, Gene.

Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1.

M. Permutt, Y. Li, C. Chinault, 1996, Genome research.

A histologic study of nonmorphogenetic forms of hereditary hearing impairment.

K. Steel, L. Michaels, R. Smith, 1992, Archives of otolaryngology--head & neck surgery.

Autosomal dominant nonsyndromic hearing impairment.

G. Van Camp, W. McGuirt, R. Smith, 1999, American journal of medical genetics.

Cloning genes for non-syndromal hearing impairment.

G. Van Camp, R. Smith, 1999, British journal of audiology.

Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness.

N. Robin, R. Smith, J. Arnold, 2001, Archives of otolaryngology--head & neck surgery.

Branchio-oto-renal syndrome.

R. Smith, K. Coppage, R. Smith, 1998, Journal of the American Academy of Audiology.

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

D. Kelsell, A. Markham, P. Van de Heyning, 1998, Journal of medical genetics.

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation

C. Cremers, F. Cremers, F. Wuyts, 2001, Journal of medical genetics.

Comprehensive genetic testing with ethnic‐specific filtering by allele frequency in a Japanese hearing‐loss population

Christina M. Sloan, D. Kolbe, C. Sloan, 2016, Clinical genetics.

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

A. Pandya, C. Petit, D. Weil, 2005, Journal of Medical Genetics.

A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24

C. Cremers, P. Nürnberg, G. Van Camp, 2004, Journal of Medical Genetics.

Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3

S. Manolidis, G. Green, K. Christodoulou, 2002, Journal of medical genetics.

A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.

F. E. Offeciers, F. Declau, P. Govaerts, 2001, American journal of human genetics.

Localization of a gene for otosclerosis to chromosome 15q25-q26.

P. Willems, P. Coucke, C. Srisailapathy, 1998, Human molecular genetics.

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.

V. Sheffield, D. Nishimura, G. Van Camp, 1996, Human molecular genetics.

DFNA5: hearing impairment exon instead of hearing impairment gene?

D. V. van Bockstaele, J. Timmermans, G. Van Camp, 2004, Journal of Medical Genetics.

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

Y. Riazalhosseini, K. Kahrizi, H. Najmabadi, 2005, Journal of Medical Genetics.

Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33

A. Lalwani, P. Nürnberg, H. Zenner, 2004, Journal of Molecular Medicine.

Genetic screening for hearing loss.

R. Smith, S. Hone, R. Smith, 2003, Clinical otolaryngology and allied sciences.

Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13).

C. Cremers, E. Leenheer, P. Huygen, 2001, Archives of otolaryngology--head & neck surgery.

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

V. Sheffield, J. Bishop, D. Scott, 2000, Human molecular genetics.

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

G Van Camp, P Van de Heyning, C. Cremers, 1999, Human molecular genetics.

Nonsyndromic hearing impairment: unparalleled heterogeneity.

P. Willems, G. Van Camp, G. Camp, 1997, American journal of human genetics.

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.

C. Cremers, A. Parving, P. Willems, 1997, Genomics.

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3

C. Cremers, H. Kremer, A. D. de Brouwer, 2004, Journal of Medical Genetics.

Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13.

G. Van Camp, E. Wilcox, W. McGuirt, 2000, Advances in oto-rhino-laryngology.

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.

G. Van Camp, S. Smith, G. Camp, 1997, American journal of human genetics.

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.

F. E. Offeciers, G. Richardson, P. Govaerts, 1998, Nature genetics.

A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

Y. Ninomiya, P. Coucke, G. Van Camp, 1999, American journal of human genetics.

Refined Mapping of a Gene for Autosomal Dominant Progressive Sensorineural Hearing Loss (DFNA5) to a 2-cM Region, and Exclusion of a Candidate Gene That Is Expressed in the Cochlea

E. Green, P. Van de Heyning, P. Willems, 1997, European journal of human genetics : EJHG.

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

R. Frants, P. Willems, D. van Velzen, 1995, Human molecular genetics.

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.

S. Schwartz, C. Lee, C. Morton, 2001, Human molecular genetics.

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

M. Bitner-Glindzicz, S. Riazuddin, Z. Ahmed, 2001, American journal of human genetics.

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.

C. Möller, C. Berlin, B. Keats, 1994, American journal of medical genetics.

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

S. Jacobson, C. Cremers, W. Reardon, 2000, American journal of human genetics.

A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

A. Lalwani, I. Verma, E. Wilcox, 1998, Genomics.

Contig maps and genomic sequencing identify candidate genes in the usher 1C locus.

N. Nowak, P. D. de Jong, T. Shows, 1998, Genome research.

Localization of two genes for Usher syndrome type I to chromosome 11.

W. Reardon, M. Jay, S. Daiger, 1992, Genomics.

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

V. Sheffield, V. D. Der Kaloustian, J. Hejtmancik, 1996, Human molecular genetics.

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

K Cryns, G Van Camp, P J Govaerts, 2004, Journal of Medical Genetics.

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

V. Sheffield, G. Woodworth, G. Woodworth, 1999, JAMA.

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.

V. Sheffield, M. Lovett, C. Srisailapathy, 1997, American journal of medical genetics.

A common founder for the 35delG GJB2gene mutation in connexin 26 hearing impairment

G. Taylor, E. Fransen, P. Coucke, 2001, Journal of medical genetics.

A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.

F. E. Offeciers, K. Verhoeven, P. Govaerts, 1997, American journal of human genetics.

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.

C. Cremers, F. Declau, P. Willems, 1997, Genomics.

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.

M. Pembrey, S. Daiger, M. Wagner, 1994, American journal of medical genetics.

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.

C. Morton, F. Wuyts, E. Fransen, 1999, Human molecular genetics.

Parental attitudes toward genetic testing for pediatric deafness.

N. Robin, J. Brunger, R. Smith, 2000, American journal of human genetics.

Maternally inherited nonsyndromic hearing loss.

S. Dimauro, R. Bradley, C. Sue, 1999, American journal of medical genetics.

Localization of Usher syndrome type II to chromosome 1q.

C. Möller, Y. Shugart, W. Kimberling, 1990, Genomics.

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

F. Bess, E. Wilcox, M. Lesperance, 1995, Human molecular genetics.

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

B J Keats, L J Hood, C I Berlin, 2005, Journal of Medical Genetics.

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.

C. Morton, K. Verhoeven, F. Declau, 2001, Human molecular genetics.

DFNB15: autosomal recessive non-syndromic hearing loss gene-chromosome 3q, 19p or digenic recessive inheritance?

W. McGuirt, R. Smith, K. Fukushima, 2000, Advances in oto-rhino-laryngology.

Localization of the gene for branchiootorenal syndrome to chromosome 8q.

W. Kimberling, Shrawan Kumar, S. Tinley, 1992, Genomics.

Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium.

M. Leppert, B. Keats, W. Kimberling, 1992, Genomics.

Clinical variability and genetic heterogeneity within the Acadian Usher population.

S. Daiger, B. Keats, W. Kimberling, 1992, American journal of medical genetics.

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family

K. Kahrizi, H. Najmabadi, G. Van Camp, 2009, Journal of Medical Genetics.

The frequency of GJB2 mutations and the Δ (GJB6‐D13S1830) deletion as a cause of autosomal recessive non‐syndromic deafness in the Kurdish population

Y. Riazalhosseini, H. Najmabadi, C. Nishimura, 2004, Clinical genetics.

Variants in CIB2 cause DFNB48 and not USH1J

M. Tekin, A. El-Amraoui, D. Duman, 2018, Clinical genetics.

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

C. Cremers, W. Kimberling, R. Ramesar, 2000, American journal of human genetics.

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.

Shelley D. Smith, P. Coucke, C. Srisailapathy, 1995, Genome research.

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)

J L McRae, G. Hageman, P. Zipfel, 2005, Journal of Medical Genetics.

Report on Attempts to Localize Usher Syndrome Type 1 by Linkage Analysis to Selected Candidate Regions

Y. Shugart, W. Kimberling, M. D. Weston, 1991, Annals of the New York Academy of Sciences.

Genetic Studies of Usher Syndrome

Y. Shugart, W. Kimberling, M. D. Weston, 1991, Annals of the New York Academy of Sciences.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

C. Petit, D. Weil, T. Yang, 2008, Clinical genetics.

Connexin 26 as a cause of hereditary hearing loss.

W. McGuirt, R. Smith, R. Smith, 1999, American journal of audiology.

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.

M. Lovett, P. Coucke, C. Srisailapathy, 1998, American journal of medical genetics.

Mapping of genes and transcribed sequences in a gene rich 400-kb region on human chromosome 11p15.1→p14

L. H. Haley, R. Eddy, T. Shows, 2001, Cytogenetic and Genome Research.