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Items: 1 to 20 of 90

1.

DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3.

Ali RA, Rehman AU, Khan SN, Husnain T, Riazuddin S, Friedman TB, Ahmed ZM, Riazuddin S.

Clin Genet. 2012 May;81(5):498-500. doi: 10.1111/j.1399-0004.2011.01729.x. Epub 2011 Dec 28. No abstract available.

2.

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI; University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB.

Am J Hum Genet. 2014 Jan 2;94(1):144-52. doi: 10.1016/j.ajhg.2013.12.004.

3.

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.

Fukushima K, Ramesh A, Srisailapathy CR, Ni L, Chen A, O'Neill M, Van Camp G, Coucke P, Smith SD, Kenyon JB, et al.

Hum Mol Genet. 1995 Sep;4(9):1643-8.

PMID:
8541854
4.

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

Veske A, Oehlmann R, Younus F, Mohyuddin A, Müller-Myhsok B, Mehdi SQ, Gal A.

Hum Mol Genet. 1996 Jan;5(1):165-8.

PMID:
8789456
5.
6.

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.

Ansar M, Din MA, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM.

Eur J Hum Genet. 2003 Jan;11(1):77-80.

7.

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, Petit C.

Hum Mol Genet. 1994 Jun;3(6):989-93.

PMID:
7951250
8.

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C.

Nat Genet. 1994 Jan;6(1):24-8.

PMID:
8136828
9.

Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3.

Scott HS, Antonarakis SE, Mittaz L, Lalioti MD, Younus F, Mohyuddin A, Mehdi SQ, Gal A.

Adv Otorhinolaryngol. 2000;56:158-63. Review. No abstract available.

PMID:
10868228
10.

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.

Lezirovitz K, Pardono E, de Mello Auricchio MT, de Carvalho E Silva FL, Lopes JJ, Abreu-Silva RS, Romanos J, Batissoco AC, Mingroni-Netto RC.

Eur J Hum Genet. 2008 Jan;16(1):89-96. Epub 2007 Sep 12. Erratum in: Eur J Hum Genet. 2008 May;16(5):660.

11.

Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.

Brown KA, Janjua AH, Karbani G, Parry G, Noble A, Crockford G, Bishop DT, Newton VE, Markham AF, Mueller RF.

Hum Mol Genet. 1996 Jan;5(1):169-73. Erratum in: Hum Mol Genet 1996 May;5(5):710.

PMID:
8789457
12.

Familial infantile renal tubular acidosis and congenital nerve deafness: an autosomal recessive syndrome.

Cohen T, Brand-Auraban A, Karshai C, Jacob A, Gay I, Tsitsianov J, Shapiro T, Jatziv S, Ashkenazi A.

Clin Genet. 1973;4(3):275-8. No abstract available.

PMID:
4765211
13.

A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.

Tlili A, Männikkö M, Charfedine I, Lahmar I, Benzina Z, Ben Amor M, Driss N, Ala-Kokko L, Drira M, Masmoudi S, Ayadi H.

Hum Hered. 2005;60(3):123-8. Epub 2005 Oct 18.

PMID:
16244493
14.
15.

Dominant modifier DFNM1 suppresses recessive deafness DFNB26.

Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, Smith TN, Liburd NA, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER.

Nat Genet. 2000 Dec;26(4):431-4.

PMID:
11101839
16.

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

Pulleyn LJ, Jackson AP, Roberts E, Carridice A, Muxworthy C, Houseman M, Al-Gazali LI, Lench NJ, Markham AF, Mueller RF.

Eur J Hum Genet. 2000 Dec;8(12):991-3.

17.

Autosomal recessive "uncomplicated" profound childhood deafness in an Arabic family with high consanguinity.

Kabarity A, Al-Awadi SA, Farag TI, Mallalah G.

Hum Genet. 1981;57(4):444-6. No abstract available.

PMID:
7286990
18.

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.

Chaïb H, Lina-Granade G, Guilford P, Plauchu H, Levilliers J, Morgon A, Petit C.

Hum Mol Genet. 1994 Dec;3(12):2219-22.

PMID:
7881423
19.

Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.

Masmoudi S, Charfedine I, Rebeh IB, Rebai A, Tlili A, Ghorbel AM, Belguith H, Petit C, Drira M, Ayadi H.

Clin Genet. 2004 Oct;66(4):358-64.

PMID:
15355440
20.

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

Fuse Y, Doi K, Hasegawa T, Sugii A, Hibino H, Kubo T.

Neuroreport. 1999 Jun 23;10(9):1853-7.

PMID:
10501520

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