Kategorie:
PubID
Gen
MIM
13680526 Zhu, M. et al. Am. J. Hum. Genet. 73: 1082-1091, 2003.
ACTG1
17503326 Modamio-Hoybjor, S., et al. Am. J. Hum. Genet. 80: 1076-1089, 2007.
CCDC50
7655461 Chen, A. H., et al. Hum. Molec. Genet. 4: 1073-1076, 1995.
CEACAM16
8817345 Manolis, E. N., Hum. Molec. Genet. 5: 1047-1050, 1996.
COCH
10581026 McGuirt, W. T., et al.Nature Genet. 23: 413-419, 1999
COL11A2
12471561 Abe, S. et al. Am. J. Hum. Genet. 72: 73-82, 2003.
CRYM
21722859 Cheng, J. et al. Am. J. Hum. Genet. 89: 56-66, 2011
DIABLO
9360932 Lynch, E. D. et al. Science 278: 1315-1318, 1997.
DIAPH1
15930085 Donaudy, F., et al. J. Med. Genet. 43: 157-161, 2006.
ESPN
EYA4
20442751 Su, C.-C. et al. Europ. J. Hum. Genet. 18: 1061-1064, 2010.
GJB2
9843210 Xia, J. et al. Nature Genet. 20: 370-373, 1998.
GJB3
9843210 Xia, J., et al. Nature Genet. 20: 370-373, 1998.
GJB6
12393799 Peters, L. M., et al, Hum. Molec. Genet. 11: 2877-2885, 2002.
GRHL2
14559215 Yu, C., et al. Genomics 82: 575-579, 2003.
GSDME
25816005 Azaiez, H. et al. PLoS Genet. 11: e1005137, 2015.
HOMER2
10025409 Kubisch, C., Cell 96: 437-446, 1999
KCNQ4
26522471 Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
KITLG
14757864 Modamio-Hoybjor, S., et al.J. Med. Genet. 41: e14, 2004.
MIR96
15015131 Donaudy, F.,Am. J. Hum. Genet. 74: 770-776, 2004.
MYH14
MYH9
11468689 Melchionda, S. et al. Am. J. Hum. Genet. 69: 635-640, 2001.
MYO6
15221449 Luijendijk, M. W. J et al.Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
MYO7A
25077649 Xing, G., et al. Genet. Med. 17: 210-218, 2015.
OSBPL2
12161595 Blanton, S. H., et al. J. Med. Genet. 39: 567-570, 2002.
P2RX2
9256502 Xiang, M., et al.Proc. Nat. Acad. Sci. 94: 9445-9450, 1997.
POU4F3
PTPRQ
SIX1
18674745 Ruel, J., et al. Am. J. Hum. Genet. 83: 278-292, 2008.
SLC17A8
24729547 Zhang, L., et al.Hum. Mutat. 35: 814-818, 2014.
TBC1D24
9590290 Verhoeven, K., et al. Nature Genet. 19: 60-62, 1998.
TECTA
20602916 Walsh, T., et al. Am. J. Hum. Genet. 87: 101-109, 2010.
TJP2
11850618 Kurima, K., et al. Nature Genet. 30: 277-284, 2002.
TMC1
23936043 Zhao, Y., et al. PLoS One 8: e69549, 2013.
TNC
WFS1