Lubs HA - Search Results

1

Shashi XLMR syndrome: report of a second family.

Castro NH, dos Santos RC, Nelson R, Beçak W, Hane B, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE. Castro NH, et al. Among authors: lubs ha. Am J Med Genet A. 2003 Apr 1;118A(1):49-51. doi: 10.1002/ajmg.a.10888. Am J Med Genet A. 2003. PMID: 12605440

2

Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.

Stocco dos Santos RC, Castro NH, Lillia Holmes A, Beçak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE. Stocco dos Santos RC, et al. Among authors: lubs ha. Am J Med Genet A. 2003 Apr 30;118A(3):255-9. doi: 10.1002/ajmg.a.20021. Am J Med Genet A. 2003. PMID: 12673656

3

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE. Schwartz CE, et al. Among authors: lubs ha. J Med Genet. 2007 Jul;44(7):472-7. doi: 10.1136/jmg.2006.048637. Epub 2007 Mar 16. J Med Genet. 2007. PMID: 17369503 Free PMC article.

4

Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.

Bialer MG, Lawrence L, Stevenson RE, Silverberg G, Williams MK, Arena JF, Lubs HA, Schwartz CE. Bialer MG, et al. Among authors: lubs ha. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):491-7. doi: 10.1002/ajmg.1320430173. Am J Med Genet. 1992. PMID: 1605231

5

Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome.

Stevenson RE, May M, Arena JF, Millar EA, Scott CI Jr, Schroer RJ, Simensen RJ, Lubs HA, Schwartz CE. Stevenson RE, et al. Among authors: lubs ha. Am J Med Genet. 1994 Sep 1;52(3):339-45. doi: 10.1002/ajmg.1320520317. Am J Med Genet. 1994. PMID: 7810566

6

Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood Study.

Lubs HA, Schwartz CE, Stevenson RE, Arena JF. Lubs HA, et al. Am J Med Genet. 1996 Jul 12;64(1):169-75. doi: 10.1002/(SICI)1096-8628(19960712)64:1<169::AID-AJMG29>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8826469 Review.

7

Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21.

Häne B, Schroer RJ, Arena JF, Lubs HA, Schwartz CE, Stevenson RE. Häne B, et al. Among authors: lubs ha. Clin Genet. 1996 Oct;50(4):176-83. doi: 10.1111/j.1399-0004.1996.tb02622.x. Clin Genet. 1996. PMID: 9001795 Review.

8

Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

Stevenson RE, Häne B, Arena JF, May M, Lawrence L, Lubs HA, Schwartz CE. Stevenson RE, et al. Among authors: lubs ha. J Med Genet. 1997 Jun;34(6):465-9. doi: 10.1136/jmg.34.6.465. J Med Genet. 1997. PMID: 9192265 Free PMC article.

9

A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.

Pai GS, Hane B, Joseph M, Nelson R, Hammond LS, Arena JF, Lubs HA, Stevenson RE, Schwartz CE. Pai GS, et al. Among authors: lubs ha. J Med Genet. 1997 Jul;34(7):529-34. doi: 10.1136/jmg.34.7.529. J Med Genet. 1997. PMID: 9222958 Free PMC article.

10

XLMR database.

Cabezas DA, Arena JF, Stevenson RE, Schwartz C, Goldberg S, Morales A, Lubs HA. Cabezas DA, et al. Among authors: lubs ha. Am J Med Genet. 1999 Jul 30;85(3):202-5. doi: 10.1002/(sici)1096-8628(19990730)85:3<202::aid-ajmg2>3.0.co;2-f. Am J Med Genet. 1999. PMID: 10398227

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