Literature DB >> 17361009

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

T Jaijo1, E Aller, M Beneyto, C Najera, C Graziano, D Turchetti, M Seri, C Ayuso, M Baiget, F Moreno, C Morera, H Perez-Garrigues, J M Millan.   

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Year:  2007        PMID： 17361009      PMCID： PMC2598023          DOI： 10.1136/jmg.2006.045377

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


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  26 in total

1.  Usher syndrome in the city of Birmingham--prevalence and clinical classification.

Authors:  C I Hope; S Bundey; D Proops; A R Fielder
Journal:  Br J Ophthalmol       Date:  1997-01       Impact factor: 4.638

2.  Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

Authors:  X Z Liu; J Walsh; Y Tamagawa; K Kitamura; M Nishizawa; K P Steel; S D Brown
Journal:  Nat Genet       Date:  1997-11       Impact factor: 38.330

3.  Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.

Authors:  X Z Liu; J Walsh; P Mburu; J Kendrick-Jones; M J Cope; K P Steel; S D Brown
Journal:  Nat Genet       Date:  1997-06       Impact factor: 38.330

4.  The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

Authors:  D Weil; P Küssel; S Blanchard; G Lévy; F Levi-Acobas; M Drira; H Ayadi; C Petit
Journal:  Nat Genet       Date:  1997-06       Impact factor: 38.330

5.  The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.

Authors:  T Rosenberg; M Haim; A M Hauch; A Parving
Journal:  Clin Genet       Date:  1997-05       Impact factor: 4.438

6.  Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

Authors:  A Adato; D Weil; H Kalinski; Y Pel-Or; H Ayadi; C Petit; M Korostishevsky; B Bonne-Tamir
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

7.  The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).

Authors:  P M Kelley; M D Weston; Z Y Chen; D J Orten; T Hasson; L D Overbeck; J Pinnt; C B Talmadge; P Ing; M S Mooseker; D Corey; J Sumegi; W J Kimberling
Journal:  Genomics       Date:  1997-02-15       Impact factor: 5.736

8.  Defective myosin VIIA gene responsible for Usher syndrome type 1B.

Authors:  D Weil; S Blanchard; J Kaplan; P Guilford; F Gibson; J Walsh; P Mburu; A Varela; J Levilliers; M D Weston
Journal:  Nature       Date:  1995-03-02       Impact factor: 49.962

9.  Linkage analysis in Usher syndrome type I (USH1) families from Spain.

Authors:  C Espinós; C Nájera; J M Millán; C Ayuso; M Baiget; H Pérez-Garrigues; O Rodrigo; C Vilela; M Beneyto
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

10.  Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

Authors:  T Hasson; M B Heintzelman; J Santos-Sacchi; D P Corey; M S Mooseker
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-10       Impact factor: 11.205
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  29 in total

1.  Characterization of a myosin VII MyTH/FERM domain.

Authors:  Rebecca J Moen; Daniel O Johnsrud; David D Thomas; Margaret A Titus
Journal:  J Mol Biol       Date:  2011-08-22       Impact factor: 5.469

2.  Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

Authors:  Mohsin Shahzad; Theru A Sivakumaran; Tanveer A Qaiser; Julie M Schultz; Zawar Hussain; Megan Flanagan; Munir A Bhinder; Diane Kissell; John H Greinwald; Shaheen N Khan; Thomas B Friedman; Kejian Zhang; Saima Riazuddin; Sheikh Riazuddin; Zubair M Ahmed
Journal:  Otolaryngol Head Neck Surg       Date:  2013-06-14       Impact factor: 3.497

3.  Novel mutations in the USH1C gene in Usher syndrome patients.

Authors:  María José Aparisi; Gema García-García; Teresa Jaijo; Regina Rodrigo; Claudio Graziano; Marco Seri; Tulay Simsek; Enver Simsek; Sara Bernal; Montserrat Baiget; Herminio Pérez-Garrigues; Elena Aller; José María Millán
Journal:  Mol Vis       Date:  2010-12-31       Impact factor: 2.367

4.  Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

Authors:  Teresa Jaijo; Aki Oshima; Elena Aller; Carol Carney; Shin-ichi Usami; José M Millán; William J Kimberling
Journal:  Mol Vis       Date:  2012-06-23       Impact factor: 2.367

5.  Genetic screening revealed usher syndrome in a paediatric Chinese patient.

Authors:  Chunyan Qu; Fenghe Liang; Qin Long; Min Zhao; Haiqiong Shang; Lynn Fan; Li Wang; Joseph Foster; Denise Yan; Xuezhong Liu
Journal:  Hearing Balance Commun       Date:  2017-05-04

Review 6.  Usher Syndrome: Genetics of a Human Ciliopathy.

Authors:  Carla Fuster-García; Belén García-Bohórquez; Ana Rodríguez-Muñoz; Elena Aller; Teresa Jaijo; José M Millán; Gema García-García
Journal:  Int J Mol Sci       Date:  2021-06-23       Impact factor: 5.923

7.  Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.

Authors:  Amal Souissi; Mariem Ben Said; Ikhlas Ben Ayed; Ines Elloumi; Amal Bouzid; Mohamed Ali Mosrati; Mehdi Hasnaoui; Malek Belcadhi; Nabil Idriss; Hassen Kamoun; Nourhene Gharbi; Abdullah A Gibriel; Abdelaziz Tlili; Saber Masmoudi
Journal:  J Adv Res       Date:  2021-01-12       Impact factor: 10.479

8.  Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

Authors:  Fei Liu; Pengcheng Li; Ying Liu; Weirong Li; Fulton Wong; Rong Du; Lei Wang; Chang Li; Fagang Jiang; Zhaohui Tang; Mugen Liu
Journal:  Mol Vis       Date:  2013-03-21       Impact factor: 2.367

9.  Inner ear morphology is perturbed in two novel mouse models of recessive deafness.

Authors:  Kerry A Miller; Louise H Williams; Elizabeth Rose; Michael Kuiper; Hans-Henrik M Dahl; Shehnaaz S M Manji
Journal:  PLoS One       Date:  2012-12-12       Impact factor: 3.240

10.  Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

Authors:  María José Aparisi; Gema García-García; Elena Aller; María Dolores Sequedo; Cristina Martínez-Fernández de la Cámara; Regina Rodrigo; Miguel Armengot; Julio Cortijo; Javier Milara; Manuel Díaz-LLopis; Teresa Jaijo; José María Millán
Journal:  PLoS One       Date:  2013-02-25       Impact factor: 3.240
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