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Items: 1 to 20 of 76

1.

An extended family with a dominantly inherited speech disorder.

Hurst JA, Baraitser M, Auger E, Graham F, Norell S.

Dev Med Child Neurol. 1990 Apr;32(4):352-5.

PMID:
2332125
2.

Localisation of a gene implicated in a severe speech and language disorder.

Fisher SE, Vargha-Khadem F, Watkins KE, Monaco AP, Pembrey ME.

Nat Genet. 1998 Feb;18(2):168-70. Erratum in: Nat Genet 1998 Mar;18(3):298.

PMID:
9462748
3.

Familial phonological disorders: four pedigrees.

Lewis BA.

J Speech Hear Disord. 1990 Feb;55(1):160-70.

PMID:
2299832
4.

Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation.

Scheffer IE, Jones L, Pozzebon M, Howell RA, Saling MM, Berkovic SF.

Ann Neurol. 1995 Oct;38(4):633-42.

PMID:
7574460
5.

Autosomal dominant rolandic epilepsy with speech dyspraxia.

Scheffer IE.

Epileptic Disord. 2000;2 Suppl 1:S19-22.

6.

Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems.

Belligni EF, Hennekam RC.

Eur J Med Genet. 2010 Jul-Aug;53(4):192-6. doi: 10.1016/j.ejmg.2010.03.009. Epub 2010 Apr 1.

PMID:
20362700
7.

A forkhead-domain gene is mutated in a severe speech and language disorder.

Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP.

Nature. 2001 Oct 4;413(6855):519-23.

PMID:
11586359
8.

Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia.

Watkins KE, Dronkers NF, Vargha-Khadem F.

Brain. 2002 Mar;125(Pt 3):452-64.

PMID:
11872604
9.

Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder.

Vargha-Khadem F, Watkins K, Alcock K, Fletcher P, Passingham R.

Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):930-3.

10.

Bilateral brain abnormalities associated with dominantly inherited verbal and orofacial dyspraxia.

Belton E, Salmond CH, Watkins KE, Vargha-Khadem F, Gadian DG.

Hum Brain Mapp. 2003 Mar;18(3):194-200.

PMID:
12599277
11.

Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome).

McLaughlin JF, Kriegsmann E.

Dev Med Child Neurol. 1980 Feb;22(1):84-92.

PMID:
7188916
12.

Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family.

Ozden S, Düzcan F, Wollnik B, Cetin OG, Sahiner T, Bayramoğlu I, Yüksel-Apak M, Bağci H.

Ophthalmic Genet. 2002 Mar;23(1):29-36.

PMID:
11910556
13.

Follow-up study in a family with dominant progressive hereditary sensorineural hearing impairment. II. Clinical aspects.

van den Wijngaart WS, Huizing EH, Niermeijer MF, Verschuure J, Brocaar MP, Blom W.

Audiology. 1985;24(5):336-42.

PMID:
4051882
14.

Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.

Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA.

Am J Med Genet A. 2007 Apr 15;143A(8):791-8. Review.

PMID:
17330859
15.

MRI analysis of an inherited speech and language disorder: structural brain abnormalities.

Watkins KE, Vargha-Khadem F, Ashburner J, Passingham RE, Connelly A, Friston KJ, Frackowiak RS, Mishkin M, Gadian DG.

Brain. 2002 Mar;125(Pt 3):465-78.

PMID:
11872605
16.

Autosomal dominant isolated ('uncomplicated') microcephaly.

Merlob P, Steier D, Reisner SH.

J Med Genet. 1988 Nov;25(11):750-3.

17.

Autosomal dominant polycythemia.

Prchal JT, Crist WM, Goldwasser E, Perrine G, Prchal JF.

Blood. 1985 Nov;66(5):1208-14.

18.

Complexity of the cognitive phenotype of an inherited form of learning disability.

Elbert JC, Seale TW.

Dev Med Child Neurol. 1988 Apr;30(2):181-9.

PMID:
3384197
19.

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Morlé L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P.

Am J Hum Genet. 2000 Dec;67(6):1592-7. Epub 2000 Oct 13.

20.

Word-finding difficulties, verbal paraphasias, and verbal dyspraxia in ten individuals with fragile X syndrome.

Spinelli M, Rocha AC, Giacheti CM, Richieri-Costa A.

Am J Med Genet. 1995 Feb 27;60(1):39-43.

PMID:
7485233

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