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Items: 1 to 20 of 68

1.

Human male infertility caused by mutations in the CATSPER1 channel protein.

Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ.

Am J Hum Genet. 2009 Apr;84(4):505-10. doi: 10.1016/j.ajhg.2009.03.004. Epub 2009 Apr 2.

2.
3.

Genetic male infertility and mutation of CATSPER ion channels.

Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J, Serres C, Kahrizi K, Najmabadi H, Beckmann JS, Smith RJ.

Eur J Hum Genet. 2010 Nov;18(11):1178-84. doi: 10.1038/ejhg.2010.108. Epub 2010 Jul 21. Review.

4.

The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.

Petukhova L, Shimomura Y, Wajid M, Gorroochurn P, Hodge SE, Christiano AM.

Hum Hered. 2009;68(2):117-30. doi: 10.1159/000212504. Epub 2009 Apr 9.

5.

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

Kohl S, Baumann B, Broghammer M, J├Ągle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B.

Hum Mol Genet. 2000 Sep 1;9(14):2107-16.

PMID:
10958649
6.

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Yasmeen A, Riazuddin SA, Kaul H, Mohsin S, Khan M, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.

Mol Vis. 2010 Apr 15;16:682-8.

7.

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:884-9.

8.

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.

Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB.

Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2458-65.

PMID:
11581183
9.

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2264-70.

PMID:
15980210
10.

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
11.

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.

Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W.

Clin Genet. 2011 Mar;79(3):273-81. doi: 10.1111/j.1399-0004.2010.01455.x.

PMID:
20528890
12.

A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family.

Hameed A, Khaliq S, Ismail M, Anwar K, Mehdi SQ, Bessant D, Payne AM, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2001 Jun;42(7):1436-8.

PMID:
11381043
13.

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.

Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6.

PMID:
15914629
14.

Genetics of human male infertility.

Poongothai J, Gopenath TS, Manonayaki S.

Singapore Med J. 2009 Apr;50(4):336-47. Review.

15.

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF.

Am J Hum Genet. 2004 Nov;75(5):878-84. Epub 2004 Sep 2.

16.

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.

Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin RW, Heister JG, Oostrik J, Cremers CW, Brunner HG, Karaguzel A, Kremer H.

J Mol Med (Berl). 2007 Apr;85(4):397-404. Epub 2007 Jan 9.

PMID:
17211611
17.

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.

Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H.

Ann Hum Genet. 2007 Mar;71(Pt 2):271-5. Epub 2006 Dec 12.

18.

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.

Heaney C, Shalev H, Elbedour K, Carmi R, Staack JB, Sheffield VC, Beier DR.

Hum Mol Genet. 1998 Sep;7(9):1407-10.

PMID:
9700194
19.

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
20.

A homozygous mutation in LTBP2 causes isolated microspherophakia.

Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH.

Hum Genet. 2010 Oct;128(4):365-71. doi: 10.1007/s00439-010-0858-8. Epub 2010 Jul 9.

PMID:
20617341

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