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Items: 1 to 20 of 160

1.

Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe.

Kenworthy L, Charnas L.

Am J Med Genet. 1995 Nov 20;59(3):283-90.

PMID:
8599350
2.

Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe.

Kenworthy L, Park T, Charnas LR.

Am J Med Genet. 1993 May 15;46(3):297-303.

PMID:
8488875
3.

Unusual renal features of Lowe syndrome in a mildly affected boy.

Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R.

Am J Med Genet. 2000 Dec 18;95(5):461-6.

PMID:
11146467
4.

Adaptive and maladaptive behavior in Prader-Willi syndrome.

Dykens EM, Hodapp RM, Walsh K, Nash LJ.

J Am Acad Child Adolesc Psychiatry. 1992 Nov;31(6):1131-6.

PMID:
1429417
5.

Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation.

Asami T, Inano K, Miida T, Kikuchi T, Uchiyama M.

Acta Paediatr. 1997 Jan;86(1):41-5.

PMID:
9116424
6.

Specification of the neurobehavioral phenotype in males with fragile X syndrome.

Baumgardner TL, Reiss AL, Freund LS, Abrams MT.

Pediatrics. 1995 May;95(5):744-52.

PMID:
7724315
7.

Hypothesis for development of a behavioral phenotype in Williams syndrome.

Dilts CV, Morris CA, Leonard CO.

Am J Med Genet Suppl. 1990;6:126-31.

PMID:
2118772
9.
10.

Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).

Treadwell-Deering DE, Powell MP, Potocki L.

J Dev Behav Pediatr. 2010 Feb-Mar;31(2):137-43. doi: 10.1097/DBP.0b013e3181cda67e.

PMID:
20110824
11.

Longitudinal assessment of adaptive and maladaptive behaviors in fragile X males: growth, development, and profiles.

Fisch GS, Carpenter NJ, Holden JJ, Simensen R, Howard-Peebles PN, Maddalena A, Pandya A, Nance W.

Am J Med Genet. 1999 Apr 2;83(4):257-63.

PMID:
10208158
12.

Neuropsychiatry of 18q- syndrome.

Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM.

Am J Med Genet. 1996 Apr 9;67(2):172-8.

PMID:
8723044
13.

Autism traits in children and adolescents with Cornelia de Lange syndrome.

Srivastava S, Landy-Schmitt C, Clark B, Kline AD, Specht M, Grados MA.

Am J Med Genet A. 2014 Jun;164A(6):1400-10. doi: 10.1002/ajmg.a.36573. Epub 2014 Apr 9.

PMID:
24718998
14.

Clinical and behavioral characteristics in FG syndrome.

Graham JM Jr, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM.

Am J Med Genet. 1999 Aug 27;85(5):470-5.

PMID:
10405444
15.

Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.

Madduri N, Peters SU, Voigt RG, Llorente AM, Lupski JR, Potocki L.

J Dev Behav Pediatr. 2006 Jun;27(3):188-92.

PMID:
16775514
16.

Glaucoma with the oculocerebrorenal syndrome of Lowe.

Walton DS, Katsavounidou G, Lowe CU.

J Glaucoma. 2005 Jun;14(3):181-5.

PMID:
15870597
17.

Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.

van Balkom ID, Shaw A, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC.

J Intellect Disabil Res. 2011 Oct;55(10):973-87. doi: 10.1111/j.1365-2788.2011.01451.x. Epub 2011 Jul 26.

PMID:
21790824
18.

Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study.

Mervis CB, Becerra AM, Rowe ML, Hersh JH, Morris CA.

Am J Med Genet A. 2005 Jan 30;132A(3):248-55.

PMID:
15523605
19.

The oculocerebrorenal syndrome of Lowe: an update.

Bökenkamp A, Ludwig M.

Pediatr Nephrol. 2016 Dec;31(12):2201-2212. Epub 2016 Mar 24. Review.

20.

Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome.

Axelrad ME, Glidden R, Nicholson L, Gripp KW.

Am J Med Genet A. 2004 Aug 1;128A(4):396-400.

PMID:
15264285

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