Lubs HA - Search Results

1

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.

Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G. Ramser J, et al. Among authors: lubs ha. Hum Mol Genet. 2005 Apr 15;14(8):1019-27. doi: 10.1093/hmg/ddi094. Epub 2005 Mar 3. Hum Mol Genet. 2005. PMID: 15746149

2

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.

Plenge RM, Stevenson RA, Lubs HA, Schwartz CE, Willard HF. Plenge RM, et al. Among authors: lubs ha. Am J Hum Genet. 2002 Jul;71(1):168-73. doi: 10.1086/341123. Epub 2002 May 30. Am J Hum Genet. 2002. PMID: 12068376 Free PMC article.

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. Among authors: lubs ha. 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

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. Among authors: lubs ha. 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.

5

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. Among authors: lubs ha. Eur J Hum Genet. 2005 Feb;13(2):176-83. doi: 10.1038/sj.ejhg.5201303. Eur J Hum Genet. 2005. PMID: 15508018

6

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE. Schwartz CE, et al. Among authors: lubs ha. Am J Hum Genet. 2005 Jul;77(1):41-53. doi: 10.1086/431313. Epub 2005 May 11. Am J Hum Genet. 2005. PMID: 15889350 Free PMC article.

7

Fragile X and X-linked intellectual disability: four decades of discovery.

Lubs HA, Stevenson RE, Schwartz CE. Lubs HA, et al. Am J Hum Genet. 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. Am J Hum Genet. 2012. PMID: 22482801 Free PMC article. Review.

8

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.

Lebel RR, May M, Pouls S, Lubs HA, Stevenson RE, Schwartz CE. Lebel RR, et al. Among authors: lubs ha. Clin Genet. 2002 Feb;61(2):139-45. doi: 10.1034/j.1399-0004.2002.610209.x. Clin Genet. 2002. PMID: 11940089

9

X-linked intellectual disability update 2017.

Neri G, Schwartz CE, Lubs HA, Stevenson RE. Neri G, et al. Among authors: lubs ha. Am J Med Genet A. 2018 Jun;176(6):1375-1388. doi: 10.1002/ajmg.a.38710. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696803 Free PMC article. Review.

10

X-linked mental retardation: the early era from 1943 to 1969.

Stevenson RE, Schwartz CE, Arena JF, Lubs HA. Stevenson RE, et al. Among authors: lubs ha. Am J Med Genet. 1994 Jul 15;51(4):538-41. doi: 10.1002/ajmg.1320510450. Am J Med Genet. 1994. PMID: 7943037 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

143 results

Search Page