Indexed keywords
CONNEXIN 26;
MYOSIN;
ARTICLE;
CHROMOSOME 1Q;
CHROMOSOME 4Q;
GENE LOCUS;
GENE MAPPING;
GENE REPRESSION;
GENETIC LINKAGE;
HEARING IMPAIRMENT;
HOMOZYGOSITY;
HUMAN;
PHENOTYPE;
PRIORITY JOURNAL;
CHROMOSOME MAPPING;
CHROMOSOMES, HUMAN, PAIR 1;
CHROMOSOMES, HUMAN, PAIR 4;
CONSANGUINITY;
DEAFNESS;
FEMALE;
GENES, DOMINANT;
GENES, RECESSIVE;
HAPLOTYPES;
HUMANS;
LOD SCORE;
MALE;
MICROSATELLITE REPEATS;
PEDIGREE;
SUPPRESSION, GENETIC;
3
0031007349
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
(1997)
Nature
, vol.387
, pp. 80-83
Kelsell, D.R.1
4
0030960855
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
(1997)
Nature Genet.
, vol.16
, pp. 188-190
Liu, X.Z.1
5
0032577293
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
(1998)
Science
, vol.280
, pp. 1447-1451
Wang, A.1
6
0032011145
A mutation in PDS causes non-syndromic recessive deafness
(1998)
Nature Genet.
, vol.18
, pp. 215-217
Li, X.C.1
7
0032947634
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness
(1999)
Nature Genet.
, vol.21
, pp. 363-369
Yasunaga, S.1
8
0032977996
An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 409-412
Mustapha, M.1
9
0027226069
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
(1993)
Nature Genet.
, vol.4
, pp. 289-294
Prezant, T.R.1
10
0029119782
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1421-1427
Tiranti, V.1
11
0032958455
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 45-51
Verhoeven, K.1
12
10144234815
Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNAT) in a large Norwegian family
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1187-1191
Fagerheim, T.1
16
0031706111
Cloning and mapping of SMARCA5 encoding hSNF2H, a novel human homologue of Drosophila ISWI
(1998)
Cytogenet. Cell Genet.
, vol.81
, pp. 191-193
Aihara, T.1
21
0032833982
Genetic modification of hearing in tubby mice: Evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1761-1767
Ikeda, A.1
22
0034639693
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 367-374
Bejjani, B.A.1
23
0030026542
A human modifier of methylation for class I HLA genes (MEMO-1) maps to chromosomal bands 1p35-36.1
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 309-317
Cheng, N.C.1
24
0034063604
A common polymorphism acts as an intragenic modifier of mutant p53 behavior
(2000)
Nature Genet.
, vol.25
, pp. 47-54
Marin, M.C.1
25
0034636038
Evidence for regulation of the PTEN tumor suppressor by a membrane-localized multi-PDZ domain containing scaffold protein MAGI-2
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 4233-4238
Wu, X.1
26
0033028607
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
(1999)
Nature Genet.
, vol.22
, pp. 128-129
Zielenski, J.1
28
0024427198
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood
(1989)
Nucleic Acids Res.
, vol.17
, pp. 8390
Grimberg, J.1
31
0035168168
Usher syndrome 1D (USH1D) and nonsyndromic recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
in press
Am. J. Hum. Genet.
Bork, J.M.1