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Items: 1 to 20 of 113

1.

Expanded genetic screening panel for the Ashkenazi Jewish population.

Baskovich B, Hiraki S, Upadhyay K, Meyer P, Carmi S, Barzilai N, Darvasi A, Ozelius L, Peter I, Cho JH, Atzmon G, Clark L, Yu J, Lencz T, Pe'er I, Ostrer H, Oddoux C.

Genet Med. 2016 May;18(5):522-8. doi: 10.1038/gim.2015.123. Epub 2015 Sep 3.

2.

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R.

Hum Mutat. 2010 Nov;31(11):1240-50. doi: 10.1002/humu.21327.

3.

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

Edelmann L, Dong J, Desnick RJ, Kornreich R.

Am J Hum Genet. 2002 Apr;70(4):1023-7. Epub 2002 Feb 13.

4.

The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.

Hoffman JD, Park JJ, Schreiber-Agus N, Kornreich R, Tanner AK, Keiles S, Friedman KJ, Heim RA.

Prenat Diagn. 2014 Dec;34(12):1161-7. doi: 10.1002/pd.4446. Epub 2014 Jul 31. Review.

PMID:
24996053
5.

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Shi L, Webb BD, Birch AH, Elkhoury L, McCarthy J, Cai X, Oishi K, Mehta L, Diaz GA, Edelmann L, Kornreich R.

Clin Genet. 2017 Apr;91(4):599-604. doi: 10.1111/cge.12834. Epub 2016 Aug 22.

6.

Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.

Kornreich R, Ekstein J, Edelmann L, Desnick RJ.

Genet Med. 2004 Sep-Oct;6(5):415-20.

PMID:
15371906
7.

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA.

Am J Hum Genet. 2001 Oct;69(4):863-8. Epub 2001 Aug 16.

8.

Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency.

Abeliovich D, Quint A, Weinberg N, Verchezon G, Lerer I, Ekstein J, Rubinstein E.

Eur J Hum Genet. 1996;4(6):338-41.

PMID:
9043867
9.

Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.

Zlotogora J, Patrinos GP, Meiner V.

Genet Med. 2018 Aug;20(8):867-871. doi: 10.1038/gim.2017.193. Epub 2017 Nov 16.

PMID:
29144512
10.

Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?

Fares F, Badarneh K, Abosaleh M, Harari-Shaham A, Diukman R, David M.

Prenat Diagn. 2008 Mar;28(3):236-41. doi: 10.1002/pd.1943.

PMID:
18264947
11.

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?

Holtkamp KC, van Maarle MC, Schouten MJ, Dondorp WJ, Lakeman P, Henneman L.

Eur J Hum Genet. 2016 Feb;24(2):171-7. doi: 10.1038/ejhg.2015.97. Epub 2015 May 13.

12.

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.

Zuckerman S, Lahad A, Shmueli A, Zimran A, Peleg L, Orr-Urtreger A, Levy-Lahad E, Sagi M.

JAMA. 2007 Sep 19;298(11):1281-90.

PMID:
17878420
13.
14.

Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.

Ekstein J, Rubin BY, Anderson SL, Weinstein DA, Bach G, Abeliovich D, Webb M, Risch N.

Am J Med Genet A. 2004 Aug 30;129A(2):162-4.

PMID:
15316959
15.

ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

ACOG Committee on Genetics.

Obstet Gynecol. 2009 Oct;114(4):950-3. doi: 10.1097/AOG.0b013e3181bd12f4.

PMID:
19888064
16.

Ashkenazi Jewish screening in the twenty-first century.

Klugman S, Gross SJ.

Obstet Gynecol Clin North Am. 2010 Mar;37(1):37-46. doi: 10.1016/j.ogc.2010.01.001.

PMID:
20494256
17.

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.

Reish O, Borochowitz ZU, Adir V, Shohat M, Karpati M, Shtorch A, Orr-Urtreger A, Yaron Y, Shalev S, Fares F, Gershoni-Baruch R, Falik-Zaccai TC, Chapman-Shimshoni D.

Genet Med. 2009 Feb;11(2):101-3. doi: 10.1097/GIM.0b013e31818efd59.

PMID:
19265749
18.

Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.

Wilson RD, De Bie I, Armour CM, Brown RN, Campagnolo C, Carroll JC, Okun N, Nelson T, Zwingerman R, Audibert F, Brock JA, Brown RN, Campagnolo C, Carroll JC, De Bie I, Johnson JA, Okun N, Pastruck M, Vallée-Pouliot K, Wilson RD, Zwingerman R, Armour C, Chitayat D, De Bie I, Fernandez S, Kim R, Lavoie J, Leonard N, Nelson T, Taylor S, Van Allen M, Van Karnebeek C.

J Obstet Gynaecol Can. 2016 Aug;38(8):742-762.e3. doi: 10.1016/j.jogc.2016.06.008.

PMID:
27638987
19.

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E.

Am J Hum Genet. 1991 Oct;49(4):855-9.

20.

Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation.

Roa BB, Savino CV, Richards CS.

Genet Test. 1999;3(2):219-21.

PMID:
10464671

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