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Links from PubMed

Items: 12

1.

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
2.

Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.

Kaneko H, Kondo N.

Expert Rev Mol Diagn. 2004 May;4(3):393-401. Review.

PMID:
15137905
3.

Cystic fibrosis in Jews: frequency and mutation distribution.

Kerem B, Chiba-Falek O, Kerem E.

Genet Test. 1997;1(1):35-9. Review.

PMID:
10464623
4.

[Bloom syndrome].

Kondo N.

Nihon Rinsho. 2000 Jul;58(7):1460-6. Review. Japanese.

PMID:
10921324
5.

Molecular genetics of Bloom's syndrome.

Ellis NA, German J.

Hum Mol Genet. 1996;5 Spec No:1457-63. Review.

6.
7.

Werner syndrome: entering the helicase era.

Epstein CJ, Motulsky AG.

Bioessays. 1996 Dec;18(12):1025-7. Review.

PMID:
8976161
8.

Fanconi anemia: genetic testing in Ashkenazi Jews.

Auerbach AD.

Genet Test. 1997;1(1):27-33. Review.

PMID:
10464622
9.

Canavan disease: diagnosis and molecular analysis.

Matalon R.

Genet Test. 1997;1(1):21-5. Review.

PMID:
10464621
10.

Establishing criteria for a carrier detection panel: lessons from the Ashkenazi Jewish model.

Gilbert F.

Genet Test. 1998;2(4):301-4. Review. No abstract available.

PMID:
10464608
11.

Bloom’s Syndrome.

Sanz MM, German J, Cunniff C.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2006 Mar 22 [updated 2016 Apr 7].

12.

Genetic Carrier Screening in the Twenty-first Century.

Yao R, Goetzinger KR.

Clin Lab Med. 2016 Jun;36(2):277-88. doi: 10.1016/j.cll.2016.01.003. Epub 2016 Mar 5. Review.

PMID:
27235912
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