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Items: 17

1.

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, Flynn K, Hendrickson BC, Scholl T, Sirko-Osadsa DA, Allitto BA.

Eur J Hum Genet. 2012 Jan;20(1):27-32. doi: 10.1038/ejhg.2011.134. Epub 2011 Aug 3.

2.

SMA carrier testing: a meta-analysis of differences in test performance by ethnic group.

MacDonald WK, Hamilton D, Kuhle S.

Prenat Diagn. 2014 Dec;34(12):1219-26. doi: 10.1002/pd.4459. Epub 2014 Aug 6. Review.

PMID:
25059567
3.

Carrier testing for spinal muscular atrophy.

Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, Terry SF, Urv T, Wang C, Watson M, Yaron Y, Frosst P, Howell RR.

Genet Med. 2010 Oct;12(10):621-2. doi: 10.1097/GIM.0b013e3181ef6079.

4.

Spinal muscular atrophy.

D'Amico A, Mercuri E, Tiziano FD, Bertini E.

Orphanet J Rare Dis. 2011 Nov 2;6:71. doi: 10.1186/1750-1172-6-71. Review.

5.

Expanded carrier screening: A review of early implementation and literature.

Lazarin GA, Haque IS.

Semin Perinatol. 2016 Feb;40(1):29-34. doi: 10.1053/j.semperi.2015.11.005. Epub 2015 Dec 21. Review.

6.

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
7.

Perspectives and diagnostic considerations in spinal muscular atrophy.

Prior TW.

Genet Med. 2010 Mar;12(3):145-52. doi: 10.1097/GIM.0b013e3181c5e713. Review.

PMID:
20057317
8.

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Ogino S, Wilson RB.

Hum Genet. 2002 Dec;111(6):477-500. Epub 2002 Oct 3. Review.

PMID:
12436240
9.

Spinal muscular atrophy: molecular genetics and diagnostics.

Ogino S, Wilson RB.

Expert Rev Mol Diagn. 2004 Jan;4(1):15-29. Review.

PMID:
14711346
10.

Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology.

Muralidharan K, Wilson RB, Ogino S, Nagan N, Curtis C, Schrijver I.

J Mol Diagn. 2011 Jan;13(1):3-6. doi: 10.1016/j.jmoldx.2010.11.012. Epub 2010 Dec 23.

11.

Carrier screening for cystic fibrosis: a perinatal perspective.

Demsey SA.

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

PMID:
10818851
12.

Newborn screening for spinal muscular atrophy: Anticipating an imminent need.

Phan HC, Taylor JL, Hannon H, Howell R.

Semin Perinatol. 2015 Apr;39(3):217-29. doi: 10.1053/j.semperi.2015.03.006. Review.

PMID:
25979781
13.

Spinal muscular atrophy in the neonate.

Markowitz JA, Tinkle MB, Fischbeck KH.

J Obstet Gynecol Neonatal Nurs. 2004 Jan-Feb;33(1):12-20. Review.

PMID:
14971549
14.

Spinal muscular atrophy: from gene discovery to clinical trials.

Nurputra DK, Lai PS, Harahap NI, Morikawa S, Yamamoto T, Nishimura N, Kubo Y, Takeuchi A, Saito T, Takeshima Y, Tohyama Y, Tay SK, Low PS, Saito K, Nishio H.

Ann Hum Genet. 2013 Sep;77(5):435-63. doi: 10.1111/ahg.12031. Epub 2013 Jul 23. Review.

15.

Current recommendations: Screening for Mendelian disorders.

Rose NC, Wick M.

Semin Perinatol. 2016 Feb;40(1):23-8. doi: 10.1053/j.semperi.2015.11.004. Epub 2015 Dec 17. Review.

PMID:
26706396
16.

Changing trends in carrier screening for genetic disease in the United States.

Nazareth SB, Lazarin GA, Goldberg JD.

Prenat Diagn. 2015 Oct;35(10):931-5. doi: 10.1002/pd.4647. Epub 2015 Jul 27. Review.

17.

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, Cook SF, Lochm├╝ller H.

Orphanet J Rare Dis. 2017 Jul 4;12(1):124. doi: 10.1186/s13023-017-0671-8. Review.

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