Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

[1]  R. Wilson,et al.  High throughput fingerprint analysis of large-insert clones. , 1997, Genome research.

[2]  Thomas L. Madden,et al.  Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. , 1997, Nucleic acids research.

[3]  R. Fulton,et al.  A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb. , 1997, Genome research.

[4]  W. Reardon,et al.  Pendred syndrome--100 years of underascertainment? , 1997, QJM : monthly journal of the Association of Physicians.

[5]  Thomas L. Madden,et al.  PowerBLAST: a new network BLAST application for interactive or automated sequence analysis and annotation. , 1997, Genome research.

[6]  Steve D. M. Brown,et al.  Mutations in the myosin VIIA gene cause non-syndromic recessive deafness , 1997, Nature Genetics.

[7]  D. Kelsell,et al.  Connexin 26 mutations in hereditary non-syndromic sensorineural deafness , 1997, nature.

[8]  P. Willems,et al.  Nonsyndromic hearing impairment: unparalleled heterogeneity. , 1997, American journal of human genetics.

[9]  C. Cremers,et al.  The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. , 1997, Genomics.

[10]  M. Pembrey,et al.  Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. , 1997, Journal of medical genetics.

[11]  C. Petit.  Genes responsible for human hereditary deafness: symphony of a thousand , 1996, Nature Genetics.

[12]  Christer Holmberg,et al.  Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea , 1996, Nature Genetics.

[13]  P. Deloukas,et al.  A Gene Map of the Human Genome , 1996, Science.

[14]  A Chakravarti,et al.  The end of the beginning: the race to begin human genome sequencing. , 1996, Genome research.

[15]  B. Rost,et al.  Topology prediction for helical transmembrane proteins at 86% accuracy–Topology prediction at 86% accuracy , 1996, Protein science : a publication of the Protein Society.

[16]  D. Forrest,et al.  Thyroid hormone receptor β is essential for development of auditory function , 1996, Nature Genetics.

[17]  M. Pembrey,et al.  Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4 , 1996, Nature Genetics.

[18]  V. Sheffield,et al.  Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification , 1996, Nature Genetics.

[19]  S. Scherer,et al.  Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. , 1996, Genome research.

[20]  M. K. Byeon,et al.  The down-regulated in adenoma (DRA) gene encodes an intestine-specific membrane glycoprotein. , 1996, Oncogene.

[21]  M V Olson,et al.  A Time to Sequence , 1995, Science.

[22]  K H Buetow,et al.  A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. , 1995, Human molecular genetics.

[23]  K. Kidd,et al.  Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. , 1995, Human molecular genetics.

[24]  Gregory D. Schuler,et al.  ESTablishing a human transcript map , 1995, Nature Genetics.

[25]  B. O'Malley,et al.  Hearing loss and cochlear abnormalities in the congenital hypothyroid (hyt/hyt) mouse , 1995, Hearing Research.

[26]  O. Lund,et al.  Prediction of O-glycosylation of mammalian proteins: specificity patterns of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase. , 1995, The Biochemical journal.

[27]  P. Traber,et al.  The Down Regulated in Adenoma (dra) Gene Encodes an Intestine-specific Membrane Sulfate Transport Protein (*) , 1995, The Journal of Biological Chemistry.

[28]  Steve D. M. Brown,et al.  Defective myosin VIIA gene responsible for Usher syndrome type IB , 1995, Nature.

[29]  B. Rost,et al.  Transmembrane helices predicted at 95% accuracy , 1995, Protein science : a publication of the Protein Society.

[30]  K H Buetow,et al.  A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). , 1994, Science.

[31]  Eric S. Lander,et al.  The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping , 1994, Cell.

[32]  F. Bieber,et al.  Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. , 1994, Genomics.

[33]  H. Massa,et al.  Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers. , 1994, Human molecular genetics.

[34]  W. Young,et al.  Alpha and beta thyroid hormone receptor (TR) gene expression during auditory neurogenesis: evidence for TR isoform-specific transcriptional regulation in vivo. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[35]  S. Suster,et al.  Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[36]  David J. States,et al.  Identification of protein coding regions by database similarity search , 1993, Nature Genetics.

[37]  C. Baldwin,et al.  An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome , 1992, Nature.

[38]  R. Balling,et al.  Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene , 1992, Nature.

[39]  E. Uberbacher,et al.  Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[40]  M. Olson,et al.  Systematic generation of sequence-tagged sites for physical mapping of human chromosomes: application to the mapping of human chromosome 7 using yeast artificial chromosomes. , 1991, Genomics.

[41]  B J Bassam,et al.  Fast and sensitive silver staining of DNA in polyacrylamide gels. , 1991, Analytical biochemistry.

[42]  S. Refetoff,et al.  Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation. , 1991, The Journal of clinical investigation.

[43]  E. Myers,et al.  Basic local alignment search tool. , 1990, Journal of molecular biology.

[44]  M. Skolnick,et al.  Identification of mutations in the COL4A5 collagen gene in Alport syndrome. , 1990, Science.

[45]  U. Feldt-Rasmussen,et al.  The variable intrafamiliar expressivity in Pendred's syndrome. , 1989, Clinical otolaryngology and allied sciences.

[46]  M. Frohman,et al.  Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[47]  F. Corpet.  Multiple sequence alignment with hierarchical clustering. , 1988, Nucleic acids research.

[48]  T. Johnsen,et al.  Pendred's syndrome , 1987, The Journal of Laryngology & Otology.

[49]  T. Johnsen,et al.  Mondini cochlea in Pendred's syndrome. A histological study. , 1986, Acta oto-laryngologica.

[50]  A. Uziel,et al.  Effects of hypothyroidism on the structural development of the organ of Corti in the rat. , 1981, Acta oto-laryngologica.

[51]  L. Van Middlesworth,et al.  Audiogenic seizures and cochlear damage in rats after perinatal antithyroid treatment. , 1980, Endocrinology.

[52]  M. Deol.  An Experimental Approach to the Understanding and Treatment of Hereditary Syndromes with Congenital Deafness and Hypothyroidism , 1973, Journal of medical genetics.

[53]  P. Illum,et al.  Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter. , 1972, Archives of otolaryngology.

[54]  G. Fraser,et al.  Association of congenital deafness with goitre (Pendred's syndrome): A study of 207 families , 1964, Annals of human genetics.

[55]  J. Batsakis,et al.  Deafness with sporadic goiter. Pendred's syndrome. , 1962, Archives of otolaryngology.

[56]  W. Trotter.  The association of deafness with thyroid dysfunction. , 1960, British medical bulletin.

[57]  V. Pendred.  DEAF-MUTISM AND GOITRE. , 1896 .

[58]  Rolf Apweiler,et al.  The SWISS-PROT protein sequence data bank and its supplement TrEMBL , 1997, Nucleic Acids Res..

[59]  R. Fulton,et al.  A collection of 1814 human chromosome 7-specific STSs. , 1997, Genome research.

[60]  S. Brunak,et al.  SHORT COMMUNICATION Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites , 1997 .

[61]  Robert S. Ledley,et al.  The Protein Information Resource (PIR) and the PIR-International Protein Sequence Database , 1997, Nucleic Acids Res..

[62]  R. Fulton,et al.  A human chromosome 7 yeast artificial chromosome (YAC) resource: construction, characterization, and screening. , 1995, Genomics.

[63]  Y Xu,et al.  Recognizing exons in genomic sequence using GRAIL II. , 1994, Genetic engineering.

[64]  L. Tsui,et al.  A suggested nomenclature for designating mutations , 1993, Human mutation.

[65]  G J Barton,et al.  ALSCRIPT: a tool to format multiple sequence alignments. , 1993, Protein engineering.

[66]  M. Kozak,et al.  Regulation of translation in eukaryotic systems. , 1992, Annual review of cell biology.

[67]  S. Refetoff,et al.  Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. , 1992, The Journal of clinical endocrinology and metabolism.

[68]  V. Herzog.  Secretion of sulfated thyroglobulin. , 1986, European journal of cell biology.