Publications by authors named "Anne Proos"

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High accuracy of HLA-B*27 genotyping by allele-specific real-time polymerase chain reaction in a heterogeneous population compared to flow cytometry and single nucleotide polymorphism detection assays.
Helena S Jang, Annè Proos, Lisa Koe, Janet Anderson, Richard Fulton

Pathology· February 2020

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Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.
Raelia M Lew, Leslie Burnett, Anné L Proos, Kristine Barlow-Stewart, Martin B Delatycki

J Paediatr Child Health· March 2015

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Tay-Sachs disease: current perspectives from Australia.
Raelia M Lew, Leslie Burnett, Anné L Proos, Martin B Delatycki

Appl Clin Genet· February 2015

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Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.
Raelia M Lew, Anne L Proos, Leslie Burnett, Martin Delatycki, Agnes Bankier

Med J Aust· December 2012

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A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.
Katrin Ounap, Helen Puusepp-Benazzouz, Maire Peters, Ulvi Vaher, Reet Rein, Anne Proos

Eur J Med Genet· March 2012

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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.
Raelia Lew, Leslie Burnett, Anné Proos

J Community Genet· December 2011

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
Cheryl Shoubridge, Patrick S Tarpey, Fatima Abidi, Sarah L Ramsden, Sinitdhorn Rujirabanjerd, Anne Proos

Nat Genet· June 2010

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Outcomes of a cystic fibrosis carrier testing clinic for couples.
Louise M Christie, Angela J Ingrey, Gillian M Turner, Anne L Proos, Gloria E Watts

Med J Aust· November 2009

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Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program.
Emma Warren, Rob Anderson, Anné L Proos, Leslie B Burnett, Kris Barlow-Stewart

Genet Med· September 2005

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The "GeneTrustee": a universal identification system that ensures privacy and confidentiality for human genetic databases.
Leslie Burnett, Kris Barlow-Stewart, Anné L Proos, Harry Aizenberg

J Law Med· May 2003

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