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Results: 17

Related Articles by Review for PubMed (Select 21228398)

1.

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF.

Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756.

2.

Carrier testing for autosomal-recessive disorders.

Vallance H, Ford J.

Crit Rev Clin Lab Sci. 2003 Aug;40(4):473-97. Review.

PMID:
14582604
3.

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.

Kingsmore SF, Dinwiddie DL, Miller NA, Soden SE, Saunders CJ.

Expert Rev Mol Diagn. 2011 Nov;11(8):855-68. doi: 10.1586/erm.11.70. Review.

4.

Variables that underlie cost efficacy of prenatal screening.

Kinzler WL, Morrell K, Vintzileos AM.

Obstet Gynecol Clin North Am. 2002 Jun;29(2):277-86, v-vi. Review.

PMID:
12108828
5.

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

Lin X, Tang W, Ahmad S, Lu J, Colby CC, Zhu J, Yu Q.

Hear Res. 2012 Jun;288(1-2):67-76. doi: 10.1016/j.heares.2012.01.004. Epub 2012 Jan 14. Review.

6.

Genetic screening for cystic fibrosis.

Gregg AR, Simpson JL.

Obstet Gynecol Clin North Am. 2002 Jun;29(2):329-40. Review.

PMID:
12108832
7.

Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze.

Ferreira JC, Schreiber-Agus N, Carter SM, Klugman S, Gregg AR, Gross SJ.

Am J Obstet Gynecol. 2014 Sep;211(3):197-204. doi: 10.1016/j.ajog.2014.02.001. Epub 2014 Feb 5. Review.

PMID:
24508465
8.

Carrier screening for cystic fibrosis: a perinatal perspective.

Demsey SA.

J Perinat Neonatal Nurs. 1999 Sep;13(2):14-26. Review.

PMID:
10818851
9.

Tay-Sachs disease screening and counseling families at risk for metabolic disease.

Sutton VR.

Obstet Gynecol Clin North Am. 2002 Jun;29(2):287-96. Review.

PMID:
12108829
10.

The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.

Mahuran DJ, Triggs-Raine BL, Feigenbaum AJ, Gravel RA.

Clin Biochem. 1990 Oct;23(5):409-15. Review.

PMID:
2147596
11.
12.

Heterozygote screening for Tay-Sachs disease: past successes and future challenges.

Natowicz MR, Prence EM.

Curr Opin Pediatr. 1996 Dec;8(6):625-9. Review.

PMID:
9018448
13.

Carrier detection and prenatal diagnosis of hemophilia in developing countries.

Peyvandi F.

Semin Thromb Hemost. 2005 Nov;31(5):544-54. Review.

PMID:
16276463
14.

Screening for thalassemia: a model of success.

Cao A, Rosatelli MC, Monni G, Galanello R.

Obstet Gynecol Clin North Am. 2002 Jun;29(2):305-28, vi-vii. Review.

PMID:
12108831
15.

Carrier screening and genetic counselling in beta-thalassemia.

Cao A.

Int J Hematol. 2002 Aug;76 Suppl 2:105-13. Review.

PMID:
12430909
16.

Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnostics.

Kucukkal TG, Yang Y, Chapman SC, Cao W, Alexov E.

Int J Mol Sci. 2014 May 30;15(6):9670-717. doi: 10.3390/ijms15069670. Review.

17.

The genomic load of deleterious mutations: relevance to death in infancy and childhood.

Morris JA.

Front Immunol. 2015 Mar 16;6:105. doi: 10.3389/fimmu.2015.00105. eCollection 2015. Review.

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