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Results: 11

1.

Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors.

Devers PL, Cronister A, Ormond KE, Facio F, Brasington CK, Flodman P.

J Genet Couns. 2013 Jun;22(3):291-5. doi: 10.1007/s10897-012-9564-0. Epub 2013 Jan 22.

PMID:
23334531
[PubMed - indexed for MEDLINE]
2.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE.

N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395. Epub 2012 Sep 12. Erratum in: N Engl J Med. 2012 Dec 13;367(24):2362.

PMID:
22970919
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors.

Sheets KB, Crissman BG, Feist CD, Sell SL, Johnson LR, Donahue KC, Masser-Frye D, Brookshire GS, Carre AM, Lagrave D, Brasington CK.

J Genet Couns. 2011 Oct;20(5):432-41. doi: 10.1007/s10897-011-9375-8. Epub 2011 May 27.

PMID:
21618060
[PubMed - indexed for MEDLINE]
4.

Balanced information about Down syndrome: what is essential?

Sheets KB, Best RG, Brasington CK, Will MC.

Am J Med Genet A. 2011 Jun;155A(6):1246-57. doi: 10.1002/ajmg.a.34018. Epub 2011 May 5.

PMID:
21548127
[PubMed - indexed for MEDLINE]
5.

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR.

Am J Hum Genet. 2010 Mar 12;86(3):462-70. doi: 10.1016/j.ajhg.2010.02.001. Epub 2010 Feb 25.

PMID:
20188345
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.

Theisen A, Rosenfeld JA, Shane K, McBride KL, Atkin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo R, Crowley A, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG.

Mol Syndromol. 2010;1(5):262-271. Epub 2011 May 18.

PMID:
22140379
[PubMed]
Free PMC Article
7.

Prenatal diagnosis of Down syndrome: how best to deliver the news.

Skotko BG, Kishnani PS, Capone GT; Down Syndrome Diagnosis Study Group.

Am J Med Genet A. 2009 Nov;149A(11):2361-7. doi: 10.1002/ajmg.a.33082.

PMID:
19787699
[PubMed - indexed for MEDLINE]
8.

Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news.

Skotko BG, Capone GT, Kishnani PS; Down Syndrome Diagnosis Study Group.

Pediatrics. 2009 Oct;124(4):e751-8. doi: 10.1542/peds.2009-0480. Epub 2009 Sep 28. Review.

PMID:
19786436
[PubMed - indexed for MEDLINE]
Free Article
9.

Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism.

Bhat SS, Ladd S, Grass F, Spence JE, Brasington CK, Simensen RJ, Schwartz CE, Dupont BR, Stevenson RE, Srivastava AK.

Clin Genet. 2008 Jan;73(1):94-6. Epub 2007 Nov 14. No abstract available.

PMID:
18005360
[PubMed - indexed for MEDLINE]
10.

Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.

Stevenson RE, Brasington CK, Skinner C, Simensen RJ, Spence JE, Kesler S, Reiss AL, Schwartz CE.

Am J Med Genet A. 2007 Oct 1;143A(19):2321-9.

PMID:
17853486
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

What I wish I knew then...reflections from personal experiences in counseling about Down syndrome.

Brasington CK.

J Genet Couns. 2007 Dec;16(6):731-4. Epub 2007 Aug 13.

PMID:
17694396
[PubMed - indexed for MEDLINE]

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