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National Deaf Register as a Resource for Hereditary Deafness Research.
- Published in:
- Annals of the New York Academy of Sciences, 1991, v. 630, n. 1, p. 292, doi. 10.1111/j.1749-6632.1991.tb19609.x
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- Publication type:
- Article
A Progress Report on the Localization of Usher Syndrome Type II to Chromosome 1q<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1991, v. 630, n. 1, p. 284, doi. 10.1111/j.1749-6632.1991.tb19606.x
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- Publication type:
- Article
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family.
- Published in:
- Journal of Human Genetics, 1999, v. 44, n. 4, p. 261, doi. 10.1007/s100380050156
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- Publication type:
- Article
Familial colon cancer in the Tel-Aviv area and the influence of ethnic origin.
- Published in:
- 1987
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- Publication type:
- journal article
Familial heterogeneity of colon cancer risk.
- Published in:
- 1986
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- Publication type:
- journal article
Genetics and smoking-associated cancers. A study of 485 families.
- Published in:
- 1986
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- Publication type:
- journal article
Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). I. Clinical description of resource.
- Published in:
- 1985
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- Publication type:
- journal article
Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). II. Biomarker studies.
- Published in:
- 1985
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- Publication type:
- journal article
Hereditary ovarian carcinoma. Biomarker studies.
- Published in:
- 1985
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- Publication type:
- journal article
Genetic predisposition to breast cancer.
- Published in:
- Cancer (0008543X), 1984, v. 53, n. S3, p. 612, doi. 10.1002/1097-0142(19840201)53:3+<612::AID-CNCR2820531306>3.0.CO;2-5
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- Publication type:
- Article
Natural history of hereditary cancer of the breast and colon.
- Published in:
- 1982
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- Publication type:
- journal article
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
- Published in:
- Laryngoscope, 2010, v. 120, n. 12, p. 2489, doi. 10.1002/lary.21159
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- Publication type:
- Article
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
- Published in:
- Laryngoscope, 2009, v. 119, n. 4, p. 727, doi. 10.1002/lary.20116
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- Publication type:
- Article
A New Clinical Classification for Usher's Syndrome Based on a New Subtype of Usher's Syndrome Type I.
- Published in:
- Laryngoscope, 2001, v. 111, n. 1, p. 84, doi. 10.1097/00005537-200101000-00014
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- Publication type:
- Article
Segregation analysis of hereditary nonpolyposis colorectal cancer.
- Published in:
- Genetic Epidemiology, 1986, v. 3, n. 1, p. 27, doi. 10.1002/gepi.1370030104
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- Publication type:
- Article
An Introduction to the Genetics of Normal and Defective Hearing<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1997, v. 830, n. 1, p. 361, doi. 10.1111/j.1749-6632.1997.tb51908.x
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- Publication type:
- Article
Genotype–phenotype correlations for SLC26A4-related deafness.
- Published in:
- Human Genetics, 2007, v. 122, n. 5, p. 451, doi. 10.1007/s00439-007-0415-2
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- Publication type:
- Article
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 156, doi. 10.1007/s00439-002-0833-0
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- Publication type:
- Article
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 474, doi. 10.1038/ejhg.2008.167
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- Publication type:
- Article
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 500, doi. 10.1038/sj.ejhg.5200491
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- Publication type:
- Article
Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 563, doi. 10.1038/sj.ejhg.5200239
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- Publication type:
- Article
Mutations in TMC1 Are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2010, v. 119, n. 12, p. 830, doi. 10.1177/000348941011901207
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- Publication type:
- Article
USHER SYNDROME TYPE III CAN MIMIC OTHER TYPES OF USHER SYNDROME.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2003, v. 112, n. 6, p. 525, doi. 10.1177/000348940311200608
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- Publication type:
- Article
HEARING LOSS IN USHER SYNDROME TYPE II IS NONPROGRESSIVE.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2002, v. 111, n. 12, p. 1108, doi. 10.1177/000348940211101208
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- Publication type:
- Article
Isepamicin sulfate-induced sensorineural hearing loss in patients with the 1555 A-->G mitochondrial mutation.
- Published in:
- 1998
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- Publication type:
- journal article
THE INHERITANCE OF PSORIASIS.
- Published in:
- Journal of Investigative Dermatology, 1973, v. 60, n. 6, p. 538, doi. 10.1111/1523-1747.ep12703617
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- Publication type:
- Article
Alteration of rod and cone function in children with Usher syndrome.
- Published in:
- European Journal of Ophthalmology, 2011, v. 21, n. 1, p. 30, doi. 10.5301/EJO.2010.5433
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- Publication type:
- Article
HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005137
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- Publication type:
- Article
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
- Published in:
- Human Mutation, 2008, v. 29, n. 4, p. 565, doi. 10.1002/humu.20714
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- Publication type:
- Article
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
- Published in:
- Human Mutation, 2008, v. 29, n. 4, p. 537, doi. 10.1002/humu.20691
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- Publication type:
- Article
Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 462, doi. 10.1002/humu.20221
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- Publication type:
- Article
USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 185, doi. 10.1002/humu.9259
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- Publication type:
- Article
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 15, p. 2405, doi. 10.1093/hmg/ddn140
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- Publication type:
- Article
Spelling errors in adults with a form of familial dyslexia.
- Published in:
- 1986
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- Publication type:
- journal article
Hypoplasia of the cerebellar vermis in neurogenetic syndromes.
- Published in:
- Annals of Neurology, 1996, v. 39, n. 3, p. 382, doi. 10.1002/ana.410390316
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- Publication type:
- Article
Pharmacogenetic application of methods from population genetics.
- Published in:
- Clinical Pharmacology & Therapeutics, 1987, v. 41, n. 1, p. 3, doi. 10.1038/clpt.1987.2
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- Publication type:
- Article
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 388, doi. 10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N
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- Publication type:
- Article
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
- Published in:
- Human Mutation, 1998, v. 11, n. 6, p. 443, doi. 10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.0.CO;2-S
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- Publication type:
- Article
Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center.
- Published in:
- Human Mutation, 1993, v. 2, n. 1, p. 7, doi. 10.1002/humu.1380020103
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- Publication type:
- Article
Human NDUFB9 Gene: Genomic Organization and a Possible Candidate Gene Associated with Deafness Disorder Mapped to Chromosome 8q13.
- Published in:
- Human Heredity, 1999, v. 49, n. 2, p. 75, doi. 10.1159/000022848
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- Publication type:
- Article
Dinucleotide (CT)n (CA)n repeat polymorphism for D11S787 on chromosome 11q13.4.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 5, p. 611
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- Publication type:
- Article
Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 7, p. 491
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- Publication type:
- Article
A new highly polymorphic dinucleotide (CT)n repeat polymorphism D1S158 on chromsome 1q isolated by microdissection.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 2, p. 141
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- Publication type:
- Article
Serum IgM in retinitis pigmentosa: A genetic study.
- Published in:
- Clinical Genetics, 1978, v. 13, n. 3, p. 295, doi. 10.1111/j.1399-0004.1978.tb01184.x
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- Publication type:
- Article
Factors affecting the progression of renal disease in autosomal- dominant polycystic kidney disease.
- Published in:
- Kidney International, 1992, v. 41, n. 5, p. 1311, doi. 10.1038/ki.1992.195
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- Publication type:
- Article
Hypertrophic form of peroneal muscular atrophy (PMA): Unusual nerve conduction results.
- Published in:
- Muscle & Nerve, 1984, v. 7, n. 1, p. 32, doi. 10.1002/mus.880070106
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- Publication type:
- Article
09:20: Branchio-Oto-Renal Syndrome: A Translational Research Model
- Published in:
- 2007
- By:
- Publication type:
- Abstract
Genetic and Clinical Features of Sensorineural Hearing Loss Associated With the 1555 Mitochondrial Mutation.
- Published in:
- Laryngoscope, 1997, v. 107, n. 4, p. 483, doi. 10.1097/00005537-199704000-00011
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- Publication type:
- Article
Usher syndrome: An otoneurologic study.
- Published in:
- Laryngoscope, 1989, v. 99, n. 1, p. 73, doi. 10.1288/00005537-198901000-00014
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- Publication type:
- Article
Usher syndrome: Clinical findings and gene localization studies.
- Published in:
- Laryngoscope, 1989, v. 99, n. 1, p. 66, doi. 10.1288/00005537-198901000-00013
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- Publication type:
- Article