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Items: 1 to 20 of 104

1.

The gene for an inherited form of deafness maps to chromosome 5q31.

Leon PE, Raventos H, Lynch E, Morrow J, King MC.

Proc Natl Acad Sci U S A. 1992 Jun 1;89(11):5181-4.

2.

A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.

Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM.

Am J Hum Genet. 2000 Apr;66(4):1437-42. Epub 2000 Mar 17.

3.

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.

Snoeckx RL, Kremer H, Ensink RJ, Flothmann K, de Brouwer A, Smith RJ, Cremers CW, Van Camp G.

J Med Genet. 2004 Jan;41(1):11-3.

4.

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.

Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX.

Am J Hum Genet. 2004 Jan;74(1):139-52. Epub 2003 Dec 12.

6.
8.

Genetic mapping of autosomal dominant primary open-angle glaucoma (POAG) in Sardinia.

Fossarello M, Zucca I, Galantuomo S, Serra A, Pirastu M, Loi A, Sole G, Cao A.

Int Ophthalmol. 1996-1997;20(1-3):1-5.

PMID:
9112154
9.

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD.

Hum Mutat. 1999;14(6):493-501.

PMID:
10571947
10.

Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.

Manolis EN, Eavey RD, Sangwatanaroj S, Halpin C, Rosenbaum S, Watkins H, Jarcho J, Seidman CE, Seidman JG.

Am J Otol. 1999 Sep;20(5):621-6.

PMID:
10503584
11.

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

Lesperance MM, Hall JW 3rd, Bess FH, Fukushima K, Jain PK, Ploplis B, San Agustin TB, Skarka H, Smith RJ, Wills M, et al.

Hum Mol Genet. 1995 Oct;4(10):1967-72.

PMID:
8595423
12.

Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.

Fagerheim T, Nilssen O, Raeymaekers P, Brox V, Moum T, Elverland HH, Teig E, Omland HH, Fostad GK, Tranebjaerg L.

Hum Mol Genet. 1996 Aug;5(8):1187-91.

PMID:
8842739
13.

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.

Burdon KP, Coster DJ, Charlesworth JC, Mills RA, Laurie KJ, Giunta C, Hewitt AW, Latimer P, Craig JE.

Hum Genet. 2008 Nov;124(4):379-86. doi: 10.1007/s00439-008-0555-z. Epub 2008 Sep 5.

PMID:
18795334
14.

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies HC, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B.

Am J Hum Genet. 2001 Jan;68(1):269-74. Epub 2000 Dec 7.

15.

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB.

Science. 1998 Mar 20;279(5358):1950-4.

16.

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.

O'Hoy KL, Tsilfidis C, Mahadevan MS, Neville CE, Barceló J, Hunter AG, Korneluk RG.

Science. 1993 Feb 5;259(5096):809-12.

PMID:
8094260
17.

BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis.

Chamberlain JS, Boehnke M, Frank TS, Kiousis S, Xu J, Guo SW, Hauser ER, Norum RA, Helmbold EA, Markel DS, et al.

Am J Hum Genet. 1993 Apr;52(4):792-8.

18.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
19.

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

Vicart P, Dupret JM, Hazan J, Li Z, Gyapay G, Krishnamoorthy R, Weissenbach J, Fardeau M, Paulin D.

Hum Genet. 1996 Oct;98(4):422-9.

PMID:
8792816
20.

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC.

Am J Hum Genet. 1996 Aug;59(2):385-91.

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