Literature DB >> 12548749

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.

Araceli Alvarez, Ignacio del Castillo, Alejandra Pera, Manuela Villamar, Miguel A Moreno-Pelayo, Felipe Moreno, Ramón Moreno, M Cruz Tapia.   

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Year:  2003        PMID: 12548749     DOI: 10.1002/ajmg.a.10851

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  3 in total

1.  Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Authors:  Andrea M Oza; Marina T DiStefano; Sarah E Hemphill; Brandon J Cushman; Andrew R Grant; Rebecca K Siegert; Jun Shen; Alex Chapin; Nicole J Boczek; Lisa A Schimmenti; Jaclyn B Murry; Linda Hasadsri; Kiyomitsu Nara; Margaret Kenna; Kevin T Booth; Hela Azaiez; Andrew Griffith; Karen B Avraham; Hannie Kremer; Heidi L Rehm; Sami S Amr; Ahmad N Abou Tayoun
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

2.  GJB2 mutations and degree of hearing loss: a multicenter study.

Authors:  Rikkert L Snoeckx; Patrick L M Huygen; Delphine Feldmann; Sandrine Marlin; Françoise Denoyelle; Jaroslaw Waligora; Malgorzata Mueller-Malesinska; Agneszka Pollak; Rafal Ploski; Alessandra Murgia; Eva Orzan; Pierangela Castorina; Umberto Ambrosetti; Ewa Nowakowska-Szyrwinska; Jerzy Bal; Wojciech Wiszniewski; Andreas R Janecke; Doris Nekahm-Heis; Pavel Seeman; Olga Bendova; Margaret A Kenna; Anna Frangulov; Heidi L Rehm; Mustafa Tekin; Armagan Incesulu; Hans-Henrik M Dahl; Desirée du Sart; Lucy Jenkins; Deirdre Lucas; Maria Bitner-Glindzicz; Karen B Avraham; Zippora Brownstein; Ignacio del Castillo; Felipe Moreno; Nikolaus Blin; Markus Pfister; Istvan Sziklai; Timea Toth; Philip M Kelley; Edward S Cohn; Lionel Van Maldergem; Pascale Hilbert; Anne-Françoise Roux; Michel Mondain; Lies H Hoefsloot; Cor W R J Cremers; Tuija Löppönen; Heikki Löppönen; Agnete Parving; Karen Gronskov; Iris Schrijver; Joseph Roberson; Francesca Gualandi; Alessandro Martini; Geneviéve Lina-Granade; Nathalie Pallares-Ruiz; Céu Correia; Graça Fialho; Kim Cryns; Nele Hilgert; Paul Van de Heyning; Carla J Nishimura; Richard J H Smith; Guy Van Camp
Journal:  Am J Hum Genet       Date:  2005-10-19       Impact factor: 11.025

3.  Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

Authors:  Anna Kutkowska-Kaźmierczak; Katarzyna Niepokój; Katarzyna Wertheim-Tysarowska; Aleksandra Giza; Maria Mordasewicz-Goliszewska; Jerzy Bal; Ewa Obersztyn
Journal:  J Appl Genet       Date:  2015-01-10       Impact factor: 3.240

  3 in total

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