Proos A - Search Results

1

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J. Shoubridge C, et al. Among authors: proos a. Nat Genet. 2010 Jun;42(6):486-8. doi: 10.1038/ng.588. Epub 2010 May 16. Nat Genet. 2010. PMID: 20473311 Free PMC article.

2

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.

Ounap K, Puusepp-Benazzouz H, Peters M, Vaher U, Rein R, Proos A, Field M, Reimand T. Ounap K, et al. Among authors: proos a. Eur J Med Genet. 2012 Mar;55(3):178-84. doi: 10.1016/j.ejmg.2012.01.004. Epub 2012 Jan 21. Eur J Med Genet. 2012. PMID: 22326837

3

Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.

Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, Aizenberg H, Field MJ, Berman Y, Fleischer R, Fietz M. Lew RM, et al. Among authors: proos al. J Paediatr Child Health. 2015 Mar;51(3):271-9. doi: 10.1111/jpc.12632. Epub 2014 Jun 13. J Paediatr Child Health. 2015. PMID: 24923490 Review.

4

The Tay-Sachs disease prevention program in Australia: Sydney pilot study.

Burnett L, Proos AL, Chesher D, Howell VM, Longo L, Tedeschi V, Yang VA, Siafakas N, Turner G. Burnett L, et al. Among authors: proos al. Med J Aust. 1995 Sep 18;163(6):298-300. doi: 10.5694/j.1326-5377.1995.tb124595.x. Med J Aust. 1995. PMID: 7565235

5

Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage.

Lew R, Burnett L, Proos A. Lew R, et al. Among authors: proos a. J Community Genet. 2011 Dec;2(4):201-9. doi: 10.1007/s12687-011-0057-x. Epub 2011 Jul 15. J Community Genet. 2011. PMID: 22109873 Free PMC article.

6

Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.

Lew RM, Proos AL, Burnett L, Delatycki M, Bankier A, Fietz MJ. Lew RM, et al. Among authors: proos al. Med J Aust. 2012 Dec 10;197(11):652-4. doi: 10.5694/mja12.11010. Med J Aust. 2012. PMID: 23230938

7

Tay-Sachs disease: current perspectives from Australia.

Lew RM, Burnett L, Proos AL, Delatycki MB. Lew RM, et al. Among authors: proos al. Appl Clin Genet. 2015 Jan 21;8:19-25. doi: 10.2147/TACG.S49628. eCollection 2015. Appl Clin Genet. 2015. PMID: 25653550 Free PMC article. Review.

8

Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program.

Warren E, Anderson R, Proos AL, Burnett LB, Barlow-Stewart K, Hall J. Warren E, et al. Among authors: proos al. Genet Med. 2005 Sep;7(7):484-94. doi: 10.1097/01.gim.0000178496.91670.3b. Genet Med. 2005. PMID: 16170240 Free article.

9

A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students.

Barlow-Stewart K, Burnett L, Proos A, Howell V, Huq F, Lazarus R, Aizenberg H. Barlow-Stewart K, et al. Among authors: proos a. J Med Genet. 2003 Apr;40(4):e45. doi: 10.1136/jmg.40.4.e45. J Med Genet. 2003. PMID: 12676918 Free PMC article. No abstract available.

10

PCR analysis of hair root specimens to detect Tay-Sachs disease carriers in Ashkenazi Jews.

Brillante R, Yang V, Proos A, Burnett L. Brillante R, et al. Among authors: proos a. Clin Chem. 1995 Feb;41(2):321-2. Clin Chem. 1995. PMID: 7874790 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

20 results

Search Page