Literature DB >> 9719374

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

P Gasparini1, A De Fazio, A I Croce, P Stanziale, L Zelante.   

Abstract

We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher III locus on chromosome 3, as recently reported in a Finnish population.

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Year:  1998        PMID： 9719374      PMCID： PMC1051393          DOI： 10.1136/jmg.35.8.666

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  Clinical variability and genetic heterogeneity within the Acadian Usher population.

Authors:  R J Smith; M Z Pelias; S P Daiger; B Keats; W Kimberling; J F Hejtmancik
Journal:  Am J Med Genet       Date:  1992-08-01

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

Authors:  S Wayne; V M Der Kaloustian; M Schloss; R Polomeno; D A Scott; J F Hejtmancik; V C Sheffield; R J Smith
Journal:  Hum Mol Genet       Date:  1996-10       Impact factor: 6.150

3.  Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region.

Authors:  T Joensuu; G Blanco; L Pakarinen; P Sistonen; H Kääriäinen; S Brown; A Chapelle; E M Sankila
Journal:  Genomics       Date:  1996-12-15       Impact factor: 5.736

4.  Localization of Usher syndrome type II to chromosome 1q.

Authors:  W J Kimberling; M D Weston; C Möller; S L Davenport; Y Y Shugart; I A Priluck; A Martini; M Milani; R J Smith
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

5.  Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.

Authors:  R J Smith; C I Berlin; J F Hejtmancik; B J Keats; W J Kimberling; R A Lewis; C G Möller; M Z Pelias; L Tranebjaerg
Journal:  Am J Med Genet       Date:  1994-03-01

6.  Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

Authors:  E M Sankila; L Pakarinen; H Kääriäinen; K Aittomäki; S Karjalainen; P Sistonen; A de la Chapelle
Journal:  Hum Mol Genet       Date:  1995-01       Impact factor: 6.150

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

Authors:  R J Smith; E C Lee; W J Kimberling; S P Daiger; M Z Pelias; B J Keats; M Jay; A Bird; W Reardon; M Guest
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736

8.  Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.

Authors:  W J Kimberling; C G Möller; S Davenport; I A Priluck; P H Beighton; J Greenberg; W Reardon; M D Weston; J B Kenyon; J A Grunkemeyer
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736

9.  A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

Authors:  J Kaplan; S Gerber; D Bonneau; J M Rozet; O Delrieu; M L Briard; H Dollfus; I Ghazi; J L Dufier; J Frézal
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736

10.  Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41.

Authors:  W J Kimberling; M D Weston; C Möller; A van Aarem; C W Cremers; J Sumegi; P S Ing; C Connolly; A Martini; M Milani
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
  10 in total
  4 in total

1.  Early diagnosis of Usher syndrome in children.

Authors:  M B Mets; N M Young; A Pass; J B Lasky
Journal:  Trans Am Ophthalmol Soc       Date:  2000

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

Authors:  L M Astuto; M D Weston; C A Carney; D M Hoover; C W Cremers; M Wagenaar; C Moller; R J Smith; S Pieke-Dahl; J Greenberg; R Ramesar; S G Jacobson; C Ayuso; J R Heckenlively; M Tamayo; M B Gorin; W Reardon; W J Kimberling
Journal:  Am J Hum Genet       Date:  2000-11-01       Impact factor: 11.025

3.  Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Authors:  T Joensuu; R Hämäläinen; B Yuan; C Johnson; S Tegelberg; P Gasparini; L Zelante; U Pirvola; L Pakarinen; A E Lehesjoki; A de la Chapelle; E M Sankila
Journal:  Am J Hum Genet       Date:  2001-08-27       Impact factor: 11.025

Review 4.  Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.

Authors:  Azmi Marouf; Benjamin Johnson; Kumar N Alagramam
Journal:  Hum Genet       Date:  2022-03-23       Impact factor: 4.132
  4 in total

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