PubMed (OMIM) for id: 84059

Year	Number of Results
1993	1
1998	3
1999	1
2000	3
2001	2
2002	3
2004	1
2005	3
2006	1
2008	1
2009	3
2010	2
2011	2
2012	2
2020	1
2024	0

1

Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4.

Han JY, Lee HJ, Lee YM, Park J. Han JY, et al. Children (Basel). 2020 Sep 18;7(9):144. doi: 10.3390/children7090144. Children (Basel). 2020. PMID: 32962041 Free PMC article.

2

Non-USH2A mutations in USH2 patients.

Besnard T, Vaché C, Baux D, Larrieu L, Abadie C, Blanchet C, Odent S, Blanchet P, Calvas P, Hamel C, Dollfus H, Lina-Granade G, Lespinasse J, David A, Isidor B, Morin G, Malcolm S, Tuffery-Giraud S, Claustres M, Roux AF. Besnard T, et al. Hum Mutat. 2012 Mar;33(3):504-10. doi: 10.1002/humu.22004. Epub 2012 Jan 6. Hum Mutat. 2012. PMID: 22147658

3

Audiological findings in 100 USH2 patients.

Abadie C, Blanchet C, Baux D, Larrieu L, Besnard T, Ravel P, Biboulet R, Hamel C, Malcolm S, Mondain M, Claustres M, Roux AF. Abadie C, et al. Clin Genet. 2012 Nov;82(5):433-8. doi: 10.1111/j.1399-0004.2011.01772.x. Epub 2011 Sep 30. Clin Genet. 2012. PMID: 21895633

4

Phenotypes in defined genotypes including siblings with Usher syndrome.

Malm E, Ponjavic V, Möller C, Kimberling WJ, Andréasson S. Malm E, et al. Ophthalmic Genet. 2011 Jun;32(2):65-74. doi: 10.3109/13816810.2010.536064. Epub 2010 Dec 21. Ophthalmic Genet. 2011. PMID: 21174530

5

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

Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ. Ebermann I, et al. J Clin Invest. 2010 Jun;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3. J Clin Invest. 2010. PMID: 20440071 Free PMC article.

6

GPR98 mutations cause Usher syndrome type 2 in males.

Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ. Ebermann I, et al. J Med Genet. 2009 Apr;46(4):277-80. doi: 10.1136/jmg.2008.059626. J Med Genet. 2009. PMID: 19357117

7

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

Hilgert N, Kahrizi K, Dieltjens N, Bazazzadegan N, Najmabadi H, Smith RJ, Van Camp G. Hilgert N, et al. J Med Genet. 2009 Apr;46(4):272-6. doi: 10.1136/jmg.2008.060947. J Med Genet. 2009. PMID: 19357116 Free PMC article.

8

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Hmani-Aifa M, Benzina Z, Zulfiqar F, Dhouib H, Shahzadi A, Ghorbel A, Rebaï A, Söderkvist P, Riazuddin S, Kimberling WJ, Ayadi H. Hmani-Aifa M, et al. Eur J Hum Genet. 2009 Apr;17(4):474-82. doi: 10.1038/ejhg.2008.167. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854872 Free PMC article.

9

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.

Deprez L, Claes LR, Claeys KG, Audenaert D, Van Dyck T, Goossens D, Van Paesschen W, Del-Favero J, Van Broeckhoven C, De Jonghe P. Deprez L, et al. Hum Genet. 2006 Jan;118(5):618-25. doi: 10.1007/s00439-005-0077-x. Epub 2005 Nov 5. Hum Genet. 2006. PMID: 16273391

10

The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.

Johnson KR, Zheng QY, Weston MD, Ptacek LJ, Noben-Trauth K. Johnson KR, et al. Genomics. 2005 May;85(5):582-90. doi: 10.1016/j.ygeno.2005.02.006. Genomics. 2005. PMID: 15820310 Free PMC article.

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