Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 63


It's complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making.

Wilfond BS, Goddard KA.

Mol Genet Genomic Med. 2015 Jul;3(4):239-42. doi: 10.1002/mgg3.130. No abstract available.


Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches.

Shao Y, Liu S, Grinzaid K.

J Community Genet. 2015 Apr;6(2):137-45. doi: 10.1007/s12687-014-0208-y. Epub 2015 Jan 7.


Cystic fibrosis genetics: from molecular understanding to clinical application.

Cutting GR.

Nat Rev Genet. 2015 Jan;16(1):45-56. doi: 10.1038/nrg3849. Epub 2014 Nov 18. Review.


Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

Dell'Edera D, Benedetto M, Gadaleta G, Carone D, Salvatore D, Angione A, Gallo M, Milo M, Pisaturo ML, Di Pierro G, Mazzone E, Epifania AA.

J Med Case Rep. 2014 Oct 10;8:339. doi: 10.1186/1752-1947-8-339.


Development of allele-specific multiplex PCR to determine the length of poly-T in intron 8 of CFTR.

Chen N, Prada AE.

PeerJ. 2014 Jul 8;2:e468. doi: 10.7717/peerj.468. eCollection 2014.


CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Ziętkiewicz E, Rutkiewicz E, Pogorzelski A, Klimek B, Voelkel K, Witt M.

PLoS One. 2014 Feb 26;9(2):e89094. doi: 10.1371/journal.pone.0089094. eCollection 2014. Erratum in: PLoS One. 2014;9(8):e105738.


Annotating DNA variants is the next major goal for human genetics.

Cutting GR.

Am J Hum Genet. 2014 Jan 2;94(1):5-10. doi: 10.1016/j.ajhg.2013.12.008.


Expanded carrier screening panels-does bigger mean better?

Wienke S, Brown K, Farmer M, Strange C.

J Community Genet. 2014 Apr;5(2):191-8. doi: 10.1007/s12687-013-0169-6. Epub 2013 Sep 24. No abstract available.


The changing landscape of carrier screening: expanding technology and options?.

McGowan ML, Cho D, Sharp RR.

Health Matrix Clevel. 2013 Spring;23(1):15-33. No abstract available.


'No thanks'-reasons why pregnant women declined an offer of cystic fibrosis carrier screening.

Ioannou L, Massie J, Lewis S, McClaren B, Collins V, Delatycki MB.

J Community Genet. 2014 Apr;5(2):109-17. doi: 10.1007/s12687-013-0151-3. Epub 2013 May 29.


Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals.

Cho D, McGowan ML, Metcalfe J, Sharp RR.

Hum Reprod. 2013 Jun;28(6):1725-30. doi: 10.1093/humrep/det091. Epub 2013 Apr 14.


Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.

Ridge PG, Miller C, Bayrak-Toydemir P, Best DH, Mao R, Swensen JJ, Lyon E, Voelkerding KV.

J Clin Bioinforma. 2013 Jan 23;3(1):3. doi: 10.1186/2043-9113-3-3.


Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature.

Janssens S, De Paepe A, Borry P.

J Community Genet. 2014 Jan;5(1):13-29. doi: 10.1007/s12687-012-0131-z. Epub 2012 Dec 29.


Effects of immediate telephone follow-up with providers on sweat chloride test timing after cystic fibrosis newborn screening identifies a single mutation.

La Pean A, Farrell MH, Eskra KL, Farrell PM.

J Pediatr. 2013 Mar;162(3):522-9. doi: 10.1016/j.jpeds.2012.08.055. Epub 2012 Oct 24.


Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

Sobczyńska-Tomaszewska A, Ołtarzewski M, Czerska K, Wertheim-Tysarowska K, Sands D, Walkowiak J, Bal J, Mazurczak T; NBS CF working group.

Eur J Hum Genet. 2013 Apr;21(4):391-6. doi: 10.1038/ejhg.2012.180. Epub 2012 Aug 15.


Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases.

Kingsmore S.

PLoS Curr. 2012 May 2:e4f9877ab8ffa9. doi: 10.1371/4f9877ab8ffa9.


The decision-making process of genetically at-risk couples considering preimplantation genetic diagnosis: initial findings from a grounded theory study.

Hershberger PE, Gallo AM, Kavanaugh K, Olshansky E, Schwartz A, Tur-Kaspa I.

Soc Sci Med. 2012 May;74(10):1536-43. doi: 10.1016/j.socscimed.2012.02.003. Epub 2012 Mar 7.


A decision-tree approach to cost comparison of newborn screening strategies for cystic fibrosis.

Wells J, Rosenberg M, Hoffman G, Anstead M, Farrell PM.

Pediatrics. 2012 Feb;129(2):e339-47. doi: 10.1542/peds.2011-0096. Epub 2012 Jan 30.


Carrier screening in preconception consultation in primary care.

Metcalfe SA.

J Community Genet. 2012 Jul;3(3):193-203. doi: 10.1007/s12687-011-0071-z. Epub 2011 Dec 20.

Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk