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Results: 1 to 20 of 105

Similar articles for PubMed (Select 21633365)

1.

Molecular and clinical studies of X-linked deafness among Pakistani families.

Waryah AM, Ahmed ZM, Bhinder MA, Choo DI, Sisk RA, Shahzad M, Khan SN, Friedman TB, Riazuddin S, Riazuddin S.

J Hum Genet. 2011 Jul;56(7):534-40. doi: 10.1038/jhg.2011.55. Epub 2011 Jun 2. Erratum in: J Hum Genet. 2011 Oct;56(10):752. Binder, Munir A [corrected to Bhinder, Munir A].

2.

Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.

Vore AP, Chang EH, Hoppe JE, Butler MG, Forrester S, Schneider MC, Smith LL, Burke DW, Campbell CA, Smith RJ.

Arch Otolaryngol Head Neck Surg. 2005 Dec;131(12):1057-63.

PMID:
16365218
3.

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Lee HK, Song MH, Kang M, Lee JT, Kong KA, Choi SJ, Lee KY, Venselaar H, Vriend G, Lee WS, Park HJ, Kwon TK, Bok J, Kim UK.

Physiol Genomics. 2009 Nov 6;39(3):195-201. doi: 10.1152/physiolgenomics.00100.2009. Epub 2009 Aug 11.

4.

Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.

Song MH, Lee HK, Choi JY, Kim S, Bok J, Kim UK.

Clin Genet. 2010 Dec;78(6):524-32. doi: 10.1111/j.1399-0004.2010.01426.x.

PMID:
20412083
5.

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER.

BMC Med Genet. 2004 Sep 24;5:24.

6.

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

Hildebrand MS, de Silva MG, Tan TY, Rose E, Nishimura C, Tolmachova T, Hulett JM, White SM, Silver J, Bahlo M, Smith RJ, Dahl HH.

Am J Med Genet A. 2007 Nov 1;143A(21):2564-75.

PMID:
17935254
7.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
8.

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Cantalapiedra D, Lorda-Sanchez I, Rodriguez de Alba M, Ramos C, Ayuso C.

Mol Vis. 2005 Sep 2;11:705-12.

9.

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.

Liu D, Hu Z, Peng Y, Yu C, Liu Y, Mo X, Li X, Lu L, Xu X, Su W, Pan Q, Xia K.

Mol Vis. 2010 Dec 8;16:2653-8.

10.

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP.

Science. 1995 Feb 3;267(5198):685-8.

PMID:
7839145
11.

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.

Kitajiri SI, McNamara R, Makishima T, Husnain T, Zafar AU, Kittles RA, Ahmed ZM, Friedman TB, Riazuddin S, Griffith AJ.

Clin Genet. 2007 Dec;72(6):546-50. Epub 2007 Sep 17.

PMID:
17877751
12.

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

Lev D, Weigl Y, Hasan M, Gak E, Davidovich M, Vinkler C, Leshinsky-Silver E, Lerman-Sagie T, Watemberg N.

Am J Med Genet A. 2007 May 1;143A(9):921-4.

PMID:
17334993
13.

Cochlear implantation in children with congenital X-linked deafness due to novel mutations in POU3F4 gene.

Stankovic KM, Hennessey AM, Herrmann B, Mankarious LA.

Ann Otol Rhinol Laryngol. 2010 Dec;119(12):815-22.

PMID:
21250553
14.

A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.

Parzefall T, Lucas T, Ritter M, Ludwig M, Ramsebner R, Frohne A, Schöfer C, Hengstschläger M, Frei K.

Audiol Neurootol. 2014;19(3):203-9. doi: 10.1159/000358866. Epub 2014 Apr 30.

PMID:
24801666
15.

Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.

Li J, Cheng J, Lu Y, Lu Y, Chen A, Sun Y, Kang D, Zhang X, Dai P, Han D, Yuan H.

J Genet Genomics. 2010 Dec;37(12):787-93. doi: 10.1016/S1673-8527(09)60096-5.

PMID:
21193157
16.

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.

Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB.

Clin Genet. 2009 Mar;75(3):237-43. doi: 10.1111/j.1399-0004.2008.01128.x.

17.

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D, et al.

J Med Genet. 1995 Apr;32(4):257-63.

18.

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Ateeq-ul-Jaleel, Khan SY, Griffith AJ, Friedman TB, Riazuddin S.

J Hum Genet. 2009 May;54(5):266-70. doi: 10.1038/jhg.2009.21. Epub 2009 Mar 13.

PMID:
19287372
19.

Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss.

Schild C, Prera E, Lüblinghoff N, Arndt S, Aschendorff A, Birkenhäger R.

Otol Neurotol. 2011 Jun;32(4):690-4. doi: 10.1097/MAO.0b013e318210b749.

PMID:
21555964
20.

Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.

Staropoli JF, Xin W, Sims KB.

J Med Genet. 2010 Nov;47(11):786-90. doi: 10.1136/jmg.2010.079301. Epub 2010 Aug 2.

PMID:
20679667
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