Smith AC - Search Results

1

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB. Liburd N, et al. Among authors: smith ac, smith t. Hum Genet. 2001 Nov;109(5):535-41. doi: 10.1007/s004390100604. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735029

2

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Greenberg F, et al. Among authors: smith ac. Am J Hum Genet. 1991 Dec;49(6):1207-18. Am J Hum Genet. 1991. PMID: 1746552 Free PMC article.

3

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith AC, Dobyns WB, Ledbetter DH. Chong SS, et al. Among authors: smith ac. Hum Mol Genet. 1997 Feb;6(2):147-55. doi: 10.1093/hmg/6.2.147. Hum Mol Genet. 1997. PMID: 9063734

4

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

Smith AC, Dykens E, Greenberg F. Smith AC, et al. Am J Med Genet. 1998 Mar 28;81(2):179-85. doi: 10.1002/(sici)1096-8628(19980328)81:2<179::aid-ajmg10>3.0.co;2-e. Am J Med Genet. 1998. PMID: 9613859 Review.

5

Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).

Smith AC, Dykens E, Greenberg F. Smith AC, et al. Am J Med Genet. 1998 Mar 28;81(2):186-91. Am J Med Genet. 1998. PMID: 9613860

6

The face of Smith-Magenis syndrome: a subjective and objective study.

Allanson JE, Greenberg F, Smith AC. Allanson JE, et al. Among authors: smith ac. J Med Genet. 1999 May;36(5):394-7. J Med Genet. 1999. PMID: 10353786 Free PMC article.

7

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L. Smith AC, et al. Genet Med. 2002 May-Jun;4(3):118-25. doi: 10.1097/00125817-200205000-00004. Genet Med. 2002. PMID: 12180145 Free article.

8

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.

Vlangos CN, Wilson M, Blancato J, Smith AC, Elsea SH. Vlangos CN, et al. Among authors: smith ac. Am J Med Genet A. 2005 Jan 30;132A(3):278-82. doi: 10.1002/ajmg.a.30461. Am J Med Genet A. 2005. PMID: 15690371

9

Craniofacial and dental phenotype of Smith-Magenis syndrome.

Tomona N, Smith AC, Guadagnini JP, Hart TC. Tomona N, et al. Among authors: smith ac. Am J Med Genet A. 2006 Dec 1;140(23):2556-61. doi: 10.1002/ajmg.a.31371. Am J Med Genet A. 2006. PMID: 17001665

10

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH. Edelman EA, et al. Among authors: smith ac. Clin Genet. 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x. Clin Genet. 2007. PMID: 17539903

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