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Results: 1 to 20 of 312

1.

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.

Kosho T, Miyake N, Carey JC.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):241-51. doi: 10.1002/ajmg.c.31415. Epub 2014 Aug 28.

PMID:
25169878
[PubMed - in process]
2.

A diagnostic paradigm including cytomegalovirus testing for idiopathic pediatric sensorineural hearing loss.

Park AH, Duval M, McVicar S, Bale JF, Hohler N, Carey JC.

Laryngoscope. 2014 Nov;124(11):2624-9. doi: 10.1002/lary.24752. Epub 2014 Jun 26.

PMID:
24965608
[PubMed - in process]
3.

Silica uptake by Spartina-evidence of multiple modes of accumulation from salt marshes around the world.

Carey JC, Fulweiler RW.

Front Plant Sci. 2014 May 20;5:186. doi: 10.3389/fpls.2014.00186. eCollection 2014.

PMID:
24904599
[PubMed]
Free PMC Article
4.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10.

PMID:
24726473
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Academia, advocacy, and industry: a collaborative method for clinical research advancement.

Vanzo RJ, Lortz A, Calhoun AR, Carey JC.

Am J Med Genet A. 2014 Jul;164(7):1619-21. doi: 10.1002/ajmg.a.36509. Epub 2014 Apr 3.

PMID:
24700599
[PubMed - in process]
6.

Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007.

Kancherla V, Romitti PA, Sun L, Carey JC, Burns TL, Siega-Riz AM, Druschel CM, Lin AE, Olney RS; National Birth Defects Prevention Study.

Eur J Med Genet. 2014 Apr;57(5):220-9. doi: 10.1016/j.ejmg.2014.02.010. Epub 2014 Feb 24.

PMID:
24576610
[PubMed - in process]
7.

Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18.

Boghossian NS, Hansen NI, Bell EF, Stoll BJ, Murray JC, Carey JC, Adams-Chapman I, Shankaran S, Walsh MC, Laptook AR, Faix RG, Newman NS, Hale EC, Das A, Wilson LD, Hensman AM, Grisby C, Collins MV, Vasil DM, Finkle J, Maffett D, Ball MB, Lacy CB, Bara R, Higgins RD; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network.

Pediatrics. 2014 Feb;133(2):226-35. doi: 10.1542/peds.2013-1702. Epub 2014 Jan 20.

PMID:
24446439
[PubMed - indexed for MEDLINE]
8.

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM.

Am J Med Genet A. 2014 Jan;164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20.

PMID:
24259288
[PubMed - in process]
9.

Reported communication ability of persons with trisomy 18 and trisomy 13.

Liang CA, Braddock BA, Heithaus JL, Christensen KM, Braddock SR, Carey JC.

Dev Neurorehabil. 2013 Nov 1. [Epub ahead of print]

PMID:
24180637
[PubMed - as supplied by publisher]
10.

Editor's forward to special articles: elements of morphology.

Carey JC.

Am J Med Genet A. 2013 Nov;161A(11):2710. doi: 10.1002/ajmg.a.36260. Epub 2013 Oct 10. No abstract available.

PMID:
24124120
[PubMed - indexed for MEDLINE]
11.

Elements of morphology: general terms for congenital anomalies.

Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium.

Am J Med Genet A. 2013 Nov;161A(11):2726-33. doi: 10.1002/ajmg.a.36249. Epub 2013 Oct 3.

PMID:
24124000
[PubMed - indexed for MEDLINE]
12.

Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.

Andersen EF, Carey JC, Earl DL, Corzo D, Suttie M, Hammond P, South ST.

Eur J Hum Genet. 2014 Apr;22(4):464-70. doi: 10.1038/ejhg.2013.192. Epub 2013 Aug 21.

PMID:
23963300
[PubMed - indexed for MEDLINE]
13.

Narrative medicine: a call to pens.

Nowaczyk MJ, Carey JC.

Am J Med Genet A. 2013 Sep;161A(9):2117-8. doi: 10.1002/ajmg.a.36114. Epub 2013 Jul 29.

PMID:
23897693
[PubMed - indexed for MEDLINE]
14.

Sustained reduction in surgical site infection after abdominal hysterectomy.

Young H, Knepper B, Vigil C, Miller A, Carey JC, Price CS.

Surg Infect (Larchmt). 2013 Oct;14(5):460-3. doi: 10.1089/sur.2012.113. Epub 2013 Jul 16.

PMID:
23859677
[PubMed - indexed for MEDLINE]
15.

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC.

Eur J Paediatr Neurol. 2013 Nov;17(6):589-99. doi: 10.1016/j.ejpn.2013.04.010. Epub 2013 May 24.

PMID:
23711909
[PubMed - indexed for MEDLINE]
16.

Elements of morphology: standard terminology for the external genitalia.

Hennekam RC, Allanson JE, Biesecker LG, Carey JC, Opitz JM, Vilain E.

Am J Med Genet A. 2013 Jun;161A(6):1238-63. doi: 10.1002/ajmg.a.35934. Epub 2013 May 6.

PMID:
23650202
[PubMed - in process]
17.

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1.

Muram TM, Stevenson DA, Watts-Justice S, Viskochil DH, Carey JC, Mao R, Jackson B.

Am J Med Genet A. 2013 Mar;161A(3):467-72. doi: 10.1002/ajmg.a.35718. Epub 2013 Feb 7.

PMID:
23401230
[PubMed - indexed for MEDLINE]
18.

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.

Oetting WS, Robinson PN, Greenblatt MS, Cotton RG, Beck T, Carey JC, Doelken SC, Girdea M, Groza T, Hamilton CM, Hamosh A, Kerner B, MacArthur JA, Maglott DR, Mons B, Rehm HL, Schofield PN, Searle BA, Smedley D, Smith CL, Bernstein IT, Zankl A, Zhao EY.

Hum Mutat. 2013 Apr;34(4):661-6. doi: 10.1002/humu.22293.

PMID:
23401191
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ.

Am J Med Genet A. 2013 Mar;161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7.

PMID:
23401156
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The terrestrial silica pump.

Carey JC, Fulweiler RW.

PLoS One. 2012;7(12):e52932. doi: 10.1371/journal.pone.0052932. Epub 2012 Dec 31.

PMID:
23300825
[PubMed - indexed for MEDLINE]
Free PMC Article
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