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Items: 1 to 20 of 133

1.

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.

2.

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.

3.

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.

4.

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.

Fedorenko E, Morgan A, Murray E, Cardinaux A, Mei C, Tager-Flusberg H, Fisher SE, Kanwisher N.

Eur J Hum Genet. 2016 Feb;24(2):302-6. doi: 10.1038/ejhg.2015.149. Epub 2015 Jul 15. Erratum in: Eur J Hum Genet. 2016 Feb;24(2):310.

5.

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

Turner SJ, Hildebrand MS, Block S, Damiano J, Fahey M, Reilly S, Bahlo M, Scheffer IE, Morgan AT.

Am J Med Genet A. 2013 Sep;161A(9):2321-6. doi: 10.1002/ajmg.a.36055. Epub 2013 Aug 5.

PMID:
23918746
6.

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.

Palka C, Alfonsi M, Mohn A, Cerbo R, Guanciali Franchi P, Fantasia D, Morizio E, Stuppia L, Calabrese G, Zori R, Chiarelli F, Palka G.

Pediatrics. 2012 Jan;129(1):e183-8. doi: 10.1542/peds.2010-2094. Epub 2011 Dec 5.

PMID:
22144704
7.

Breakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS).

Shriberg LD, Jakielski KJ, El-Shanti H.

Am J Med Genet A. 2008 Sep 1;146A(17):2227-33. doi: 10.1002/ajmg.a.32363.

PMID:
18671280
8.

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

Peter B, Wijsman EM, Nato AQ Jr; University of Washington Center for Mendelian Genomics, Matsushita MM, Chapman KL, Stanaway IB, Wolff J, Oda K, Gabo VB, Raskind WH.

PLoS One. 2016 Apr 27;11(4):e0153864. doi: 10.1371/journal.pone.0153864. eCollection 2016.

9.

Childhood apraxia of speech and multiple phonological disorders in Cairo-Egyptian Arabic speaking children: language, speech, and oro-motor differences.

Aziz AA, Shohdi S, Osman DM, Habib EI.

Int J Pediatr Otorhinolaryngol. 2010 Jun;74(6):578-85. doi: 10.1016/j.ijporl.2010.02.003. Epub 2010 Mar 3.

PMID:
20202694
10.

Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform.

Norling A, Hirschberg AL, Rodriguez-Wallberg KA, Iwarsson E, Wedell A, Barbaro M.

Hum Reprod. 2014 Aug;29(8):1818-27. doi: 10.1093/humrep/deu149. Epub 2014 Jun 17.

11.

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

Thevenon J, Callier P, Andrieux J, Delobel B, David A, Sukno S, Minot D, Mosca Anne L, Marle N, Sanlaville D, Bonnet M, Masurel-Paulet A, Levy F, Gaunt L, Farrell S, Le Caignec C, Toutain A, Carmignac V, Mugneret F, Clayton-Smith J, Thauvin-Robinet C, Faivre L.

Eur J Hum Genet. 2013 Jan;21(1):82-8. doi: 10.1038/ejhg.2012.116. Epub 2012 Jun 20.

12.

Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia.

Shriberg LD, Potter NL, Strand EA.

J Speech Lang Hear Res. 2011 Apr;54(2):487-519. doi: 10.1044/1092-4388(2010/10-0068). Epub 2010 Oct 21.

13.

A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.

Lebedev IN, Nazarenko LP, Skryabin NA, Babushkina NP, Kashevarova AA.

Am J Med Genet A. 2016 Aug;170(8):2089-96. doi: 10.1002/ajmg.a.37754. Epub 2016 Jun 10.

PMID:
27288323
14.

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.

15.

Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

Marignier S, Lesca G, Marguin J, Bussy G, Sanlaville D, des Portes V.

Eur J Med Genet. 2012 Jun;55(6-7):433-6. doi: 10.1016/j.ejmg.2012.03.008. Epub 2012 Mar 28.

PMID:
22510527
16.

Assessment of copy number variations in 120 patients with Poland syndrome.

Vaccari CM, Tassano E, Torre M, Gimelli S, Divizia MT, Romanini MV, Bossi S, Musante I, Valle M, Senes F, Catena N, Bedeschi MF, Baban A, Calevo MG, Acquaviva M, Lerone M, Ravazzolo R, Puliti A.

BMC Med Genet. 2016 Nov 25;17(1):89.

17.

Central timing deficits in subtypes of primary speech disorders.

Peter B, Stoel-Gammon C.

Clin Linguist Phon. 2008 Mar;22(3):171-98. doi: 10.1080/02699200701799825.

PMID:
18307084
18.

Childhood speech apraxia in focus: theoretical perspectives and present tendencies.

Souza TN, PayĆ£o Mda C, Costa RC.

Pro Fono. 2009 Jan-Mar;21(1):76-80. Review.

19.

The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment.

Centanni TM, Sanmann JN, Green JR, Iuzzini-Seigel J, Bartlett C, Sanger WG, Hogan TP.

Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):536-43. doi: 10.1002/ajmg.b.32325. Epub 2015 Jun 19.

PMID:
26097074
20.

DNA copy number variations in patients with 46,XY disorders of sex development.

Harrison SM, Granberg CF, Keays M, Hill M, Grimsby GM, Baker LA.

J Urol. 2014 Dec;192(6):1801-6. doi: 10.1016/j.juro.2014.06.040. Epub 2014 Jun 16.

PMID:
24946221

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