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Results: 17

1.

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.

Worthey EA, Raca G, Laffin JJ, Wilk BM, Harris JM, Jakielski KJ, Dimmock DP, Strand EA, Shriberg LD.

J Neurodev Disord. 2013 Oct 2;5(1):29. doi: 10.1186/1866-1955-5-29.

PMID:
24083349
[PubMed]
Free PMC Article
2.

Neurogenomics of speech and language disorders: the road ahead.

Deriziotis P, Fisher SE.

Genome Biol. 2013 Apr 18;14(4):204. doi: 10.1186/gb-2013-14-4-204.

PMID:
23597266
[PubMed - in process]
Free PMC Article
3.

Motor and speech disorders in classic galactosemia.

Potter NL, Nievergelt Y, Shriberg LD.

JIMD Rep. 2013;11:31-41. doi: 10.1007/8904_2013_219. Epub 2013 Apr 2.

PMID:
23546812
[PubMed]
Free PMC Article
4.

Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech.

Peter B, Button L, Stoel-Gammon C, Chapman K, Raskind WH.

Clin Linguist Phon. 2013 Mar;27(3):163-91. doi: 10.3109/02699206.2012.736011. Epub 2013 Jan 22.

PMID:
23339324
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Associations among measures of sequential processing in motor and linguistics tasks in adults with and without a family history of childhood apraxia of speech: a replication study.

Button L, Peter B, Stoel-Gammon C, Raskind WH.

Clin Linguist Phon. 2013 Mar;27(3):192-212. doi: 10.3109/02699206.2012.744097. Epub 2013 Jan 22.

PMID:
23339292
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.

Ryan EL, Lynch ME, Taddeo E, Gleason TJ, Epstein MP, Fridovich-Keil JL.

J Inherit Metab Dis. 2013 Nov;36(6):1049-61. doi: 10.1007/s10545-012-9575-x. Epub 2013 Jan 15.

PMID:
23319291
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

From mind to mouth: event related potentials of sentence production in classic galactosemia.

Timmers I, Jansma BM, Rubio-Gozalbo ME.

PLoS One. 2012;7(12):e52826. doi: 10.1371/journal.pone.0052826. Epub 2012 Dec 26.

PMID:
23300788
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD.

Eur J Hum Genet. 2013 Apr;21(4):455-9. doi: 10.1038/ejhg.2012.165. Epub 2012 Aug 22.

PMID:
22909774
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.

Laffin JJ, Raca G, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD.

Genet Med. 2012 Nov;14(11):928-36. doi: 10.1038/gim.2012.72. Epub 2012 Jul 5. Erratum in: Genet Med. 2013 Jul;15(7):587-8.

PMID:
22766611
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Encoding, memory, and transcoding deficits in Childhood Apraxia of Speech.

Shriberg LD, Lohmeier HL, Strand EA, Jakielski KJ.

Clin Linguist Phon. 2012 May;26(5):445-82. doi: 10.3109/02699206.2012.655841.

PMID:
22489736
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Phenotype of FOXP2 haploinsufficiency in a mother and son.

Rice GM, Raca G, Jakielski KJ, Laffin JJ, Iyama-Kurtycz CM, Hartley SL, Sprague RE, Heintzelman AT, Shriberg LD.

Am J Med Genet A. 2012 Jan;158A(1):174-81. doi: 10.1002/ajmg.a.34354. Epub 2011 Nov 21.

PMID:
22106036
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The adult galactosemic phenotype.

Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT.

J Inherit Metab Dis. 2012 Mar;35(2):279-86. doi: 10.1007/s10545-011-9372-y. Epub 2011 Jul 21.

PMID:
21779791
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The hypothesis of apraxia of speech in children with autism spectrum disorder.

Shriberg LD, Paul R, Black LM, van Santen JP.

J Autism Dev Disord. 2011 Apr;41(4):405-26. doi: 10.1007/s10803-010-1117-5.

PMID:
20972615
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Voice disorders in children with classic galactosemia.

Potter NL.

J Inherit Metab Dis. 2011 Apr;34(2):377-85. doi: 10.1007/s10545-010-9213-4. Epub 2010 Sep 30.

PMID:
20882349
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Perceptual and acoustic reliability estimates for the Speech Disorders Classification System (SDCS).

Shriberg LD, Fourakis M, Hall SD, Karlsson HB, Lohmeier HL, McSweeny JL, Potter NL, Scheer-Cohen AR, Strand EA, Tilkens CM, Wilson DL.

Clin Linguist Phon. 2010 Oct;24(10):825-46. doi: 10.3109/02699206.2010.503007.

PMID:
20831379
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Extensions to the Speech Disorders Classification System (SDCS).

Shriberg LD, Fourakis M, Hall SD, Karlsson HB, Lohmeier HL, McSweeny JL, Potter NL, Scheer-Cohen AR, Strand EA, Tilkens CM, Wilson DL.

Clin Linguist Phon. 2010 Oct;24(10):795-824. doi: 10.3109/02699206.2010.503006.

PMID:
20831378
[PubMed - indexed for MEDLINE]
Free PMC Article

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