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Items: 1 to 20 of 48

1.

CATSPER2, a human autosomal nonsyndromic male infertility gene.

Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS.

Eur J Hum Genet. 2003 Jul;11(7):497-502.

2.

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ.

J Med Genet. 2007 Apr;44(4):233-40. Epub 2006 Nov 10. Erratum in: J Med Genet. 2007 Aug;44(8):544. Lohr, Naomi J [added].

3.

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.

Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H.

Am J Hum Genet. 2002 Dec;71(6):1467-74. Epub 2002 Nov 14.

4.

Insights into sperm cell motility signaling through sNHE and the CatSpers.

Quill TA, Wang D, Garbers DL.

Mol Cell Endocrinol. 2006 May 16;250(1-2):84-92. Epub 2006 Jan 18. Review.

PMID:
16413670
5.

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.

Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S.

Am J Hum Genet. 2007 Oct;81(4):813-20. Epub 2007 Aug 21.

6.

Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion.

Jaiswal D, Singh V, Dwivedi US, Trivedi S, Singh K.

Gene. 2014 Jun 1;542(2):263-5. doi: 10.1016/j.gene.2014.03.055. Epub 2014 Mar 29.

PMID:
24690399
7.

Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25.

Lind L, Sandström H, Wahlin A, Eriksson M, Nilsson-Sojka B, Sikström C, Holmgren G.

Hum Mol Genet. 1995 Jan;4(1):109-12.

PMID:
7711721
8.

Hyperactivated sperm motility driven by CatSper2 is required for fertilization.

Quill TA, Sugden SA, Rossi KL, Doolittle LK, Hammer RE, Garbers DL.

Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):14869-74. Epub 2003 Dec 1.

9.

Catsper3 and Catsper4 are essential for sperm hyperactivated motility and male fertility in the mouse.

Jin J, Jin N, Zheng H, Ro S, Tafolla D, Sanders KM, Yan W.

Biol Reprod. 2007 Jul;77(1):37-44. Epub 2007 Mar 7.

PMID:
17344468
10.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
11.

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.

12.

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.

13.

Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II).

Iolascon A, Miraglia del Giudice E, Perrotta S, Granatiero M, Zelante L, Gasparini P.

Blood. 1997 Nov 15;90(10):4197-200.

14.

Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1).

Grati FR, Lesperance MM, De Toffol S, Chinetti S, Selicorni A, Emery S, Grimi B, Dulcetti F, Malvestiti B, Taylor J, Milani S, Ruggeri AM, Maggi F, Simoni G.

Am J Med Genet A. 2009 May;149A(5):906-13. doi: 10.1002/ajmg.a.32754.

15.

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H.

J Med Genet. 2005 Jul;42(7):551-7.

16.

Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.

Poloschek CM, Kloeckener-Gruissem B, Hansen LL, Bach M, Berger W.

Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4096-104. doi: 10.1167/iovs.08-2044. Epub 2008 May 16.

PMID:
18487380
17.

Identical phenotypes of CatSper1 and CatSper2 null sperm.

Carlson AE, Quill TA, Westenbroek RE, Schuh SM, Hille B, Babcock DF.

J Biol Chem. 2005 Sep 16;280(37):32238-44. Epub 2005 Jul 21.

18.

Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings.

Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Tunjekar MF, al-Gharbawy F, Majeed SA, al-Gazzar AH.

J Pediatr. 1989 Nov;115(5 Pt 1):730-4.

PMID:
2809904
19.

[Localized gene of the rare "Norrland disease". CDA-III blood disease with dominant heredity].

Sandström H, Wahlin A.

Lakartidningen. 1999 Jan 27;96(4):343-7. Review. Swedish.

PMID:
10024825
20.

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.

Kemperman MH, De Leenheer EM, Huygen PL, van Duijnhoven G, Morton CC, Robertson NG, Cremers FP, Kremer H, Cremers CW.

Otol Neurotol. 2005 Sep;26(5):926-33.

PMID:
16151339

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