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Literature DB >> 21697857

Clinical utility gene card for: Usher syndrome.

Hanno J Bolz¹, Anne-Françoise Roux.

Abstract

Mesh：

Year: 2011 PMID： 21697857 PMCID： PMC3172919 DOI： 10.1038/ejhg.2011.15

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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9 in total

1. Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.

Authors: A Adato; H Kalinski; D Weil; H Chaib; M Korostishevsky; B Bonne-Tamir
Journal: Am J Hum Genet Date: 1999-07 Impact factor: 11.025

Review 2. Update on Usher syndrome.

Authors: Zubin Saihan; Andrew R Webster; Linda Luxon; Maria Bitner-Glindzicz
Journal: Curr Opin Neurol Date: 2009-02 Impact factor: 5.710

3. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

Authors: Inga Ebermann; Jennifer B Phillips; Max C Liebau; Robert K Koenekoop; Bernhard Schermer; Irma Lopez; Ellen Schäfer; Anne-Francoise Roux; Claudia Dafinger; Antje Bernd; Eberhart Zrenner; Mireille Claustres; Bernardo Blanco; Gudrun Nürnberg; Peter Nürnberg; Rebecca Ruland; Monte Westerfield; Thomas Benzing; Hanno J Bolz
Journal: J Clin Invest Date: 2010-05-03 Impact factor: 14.808

4. Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

Authors: Shahid M Baig; Alexandra Koschak; Andreas Lieb; Mathias Gebhart; Claudia Dafinger; Gudrun Nürnberg; Amjad Ali; Ilyas Ahmad; Martina J Sinnegger-Brauns; Niels Brandt; Jutta Engel; Matteo E Mangoni; Muhammad Farooq; Habib U Khan; Peter Nürnberg; Jörg Striessnig; Hanno J Bolz
Journal: Nat Neurosci Date: 2010-12-05 Impact factor: 24.884

5. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

Authors: Qing Yin Zheng; Denise Yan; Xiao Mei Ouyang; Li Lin Du; Heping Yu; Bo Chang; Kenneth R Johnson; Xue Zhong Liu
Journal: Hum Mol Genet Date: 2004-11-10 Impact factor: 6.150

6. PTC124 targets genetic disorders caused by nonsense mutations.

Authors: Ellen M Welch; Elisabeth R Barton; Jin Zhuo; Yuki Tomizawa; Westley J Friesen; Panayiota Trifillis; Sergey Paushkin; Meenal Patel; Christopher R Trotta; Seongwoo Hwang; Richard G Wilde; Gary Karp; James Takasugi; Guangming Chen; Stephen Jones; Hongyu Ren; Young-Choon Moon; Donald Corson; Anthony A Turpoff; Jeffrey A Campbell; M Morgan Conn; Atiyya Khan; Neil G Almstead; Jean Hedrick; Anna Mollin; Nicole Risher; Marla Weetall; Shirley Yeh; Arthur A Branstrom; Joseph M Colacino; John Babiak; William D Ju; Samit Hirawat; Valerie J Northcutt; Langdon L Miller; Phyllis Spatrick; Feng He; Masataka Kawana; Huisheng Feng; Allan Jacobson; Stuart W Peltz; H Lee Sweeney
Journal: Nature Date: 2007-04-22 Impact factor: 49.962

7. A genetic analysis of retinitis pigmentosa.

Authors: J A Boughman; G A Fishman
Journal: Br J Ophthalmol Date: 1983-07 Impact factor: 4.638

8. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Authors: William J Kimberling; Michael S Hildebrand; A Eliot Shearer; Maren L Jensen; Jennifer A Halder; Karmen Trzupek; Edward S Cohn; Richard G Weleber; Edwin M Stone; Richard J H Smith
Journal: Genet Med Date: 2010-08 Impact factor: 8.822

9. Development of a genotyping microarray for Usher syndrome.

Authors: Frans P M Cremers; William J Kimberling; Maigi Külm; Arjan P de Brouwer; Erwin van Wijk; Heleen te Brinke; Cor W R J Cremers; Lies H Hoefsloot; Sandro Banfi; Francesca Simonelli; Johannes C Fleischhauer; Wolfgang Berger; Phil M Kelley; Elene Haralambous; Maria Bitner-Glindzicz; Andrew R Webster; Zubin Saihan; Elfride De Baere; Bart P Leroy; Giuliana Silvestri; Gareth J McKay; Robert K Koenekoop; Jose M Millan; Thomas Rosenberg; Tarja Joensuu; Eeva-Marja Sankila; Dominique Weil; Mike D Weston; Bernd Wissinger; Hannie Kremer
Journal: J Med Genet Date: 2006-09-08 Impact factor: 6.318

9 in total

10 in total

1. Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

Authors: Salma Ben-Salem; Heidi L Rehm; Patrick J Willems; Zakaria A Tamimi; Hammadi Ayadi; Bassam R Ali; Lihadh Al-Gazali
Journal: Mol Biol Rep Date: 2013-11-06 Impact factor: 2.316

2. Genetic analysis for two italian siblings with usher syndrome and schizophrenia.

Authors: Daniela Domanico; Serena Fragiotta; Paolo Trabucco; Marcella Nebbioso; Enzo Maria Vingolo
Journal: Case Rep Ophthalmol Med Date: 2012-10-04

3. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

Authors: Tobias Eisenberger; Rima Slim; Ahmad Mansour; Markus Nauck; Gudrun Nürnberg; Peter Nürnberg; Christian Decker; Claudia Dafinger; Inga Ebermann; Carsten Bergmann; Hanno Jörn Bolz
Journal: Orphanet J Rare Dis Date: 2012-09-02 Impact factor: 4.123

Review 4. Psychosis, Mood and Behavioral Disorders in Usher Syndrome: Review of the Literature.

Authors: Daniela Domanico; Serena Fragiotta; Alessandro Cutini; Pier Luigi Grenga; Enzo Maria Vingolo
Journal: Med Hypothesis Discov Innov Ophthalmol Date: 2015

5. Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene.

Authors: Ehab Abdelkader; Lama Enani; Patrik Schatz; Leen Safieh
Journal: Saudi J Ophthalmol Date: 2017-10-26

10. Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1.

Authors: Rebeca Valero; Marta de Castro-Miró; Sofía Jiménez-Ochoa; Juan José Rodríguez-Ezcurra; Gemma Marfany; Roser Gonzàlez-Duarte
Journal: Genes (Basel) Date: 2019-09-21 Impact factor: 4.096