MH57840/MH/NIMH NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2000	1
2002	5
2003	2
2004	1
2005	1
2006	1
2013	1
2024	0

1

Malformations among the X-linked intellectual disability syndromes.

Stevenson RE, Schwartz CE, Rogers RC. Stevenson RE, et al. Am J Med Genet A. 2013 Nov;161A(11):2741-9. doi: 10.1002/ajmg.a.36179. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24166814 Free PMC article. Review.

2

AGTR2 mutations in X-linked mental retardation.

Vervoort VS, Beachem MA, Edwards PS, Ladd S, Miller KE, de Mollerat X, Clarkson K, DuPont B, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK. Vervoort VS, et al. Science. 2002 Jun 28;296(5577):2401-3. doi: 10.1126/science.1072191. Science. 2002. PMID: 12089445

3

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE. Hahn KA, et al. Am J Hum Genet. 2002 May;70(5):1349-56. doi: 10.1086/340092. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898126 Free PMC article.

4

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE. Cason AL, et al. Eur J Hum Genet. 2003 Dec;11(12):937-44. doi: 10.1038/sj.ejhg.5201072. Eur J Hum Genet. 2003. PMID: 14508504

5

Detecting polymorphisms and mutations in candidate genes.

Collins JS, Schwartz CE. Collins JS, et al. Am J Hum Genet. 2002 Nov;71(5):1251-2. doi: 10.1086/344344. Am J Hum Genet. 2002. PMID: 12452182 Free PMC article. No abstract available.

6

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattéi MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE. Abidi FE, et al. Eur J Hum Genet. 2005 Feb;13(2):176-83. doi: 10.1038/sj.ejhg.5201303. Eur J Hum Genet. 2005. PMID: 15508018

7

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. Lenski C, et al. Am J Hum Genet. 2004 Apr;74(4):777-80. doi: 10.1086/383205. Am J Hum Genet. 2004. PMID: 15024694 Free PMC article. No abstract available.

8

The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project.

Collins JS, Schroer RJ, Bird J, Michaelis RC. Collins JS, et al. J Autism Dev Disord. 2003 Jun;33(3):343-8. doi: 10.1023/a:1024414803151. J Autism Dev Disord. 2003. PMID: 12908836

9

Dietary intake and blood folate levels in Honduran women of childbearing age.

Holden KR, Collins JS, Greene JF, Hinkle S, Nave AF, Portillo JM, Page GP, Stevenson RE; Honduran Neural Tube Defect Project Team. Holden KR, et al. J Child Neurol. 2002 May;17(5):341-6. doi: 10.1177/088307380201700506. J Child Neurol. 2002. PMID: 12150580

10

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS. Clark AJ, et al. Hum Genet. 2006 Jul;119(6):604-10. doi: 10.1007/s00439-006-0162-9. Epub 2006 Apr 26. Hum Genet. 2006. PMID: 16738945

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