Spence MA - Search Results

1

Development and validation of a measure of dysmorphology: useful for autism subgroup classification.

Miles JH, Takahashi TN, Hong J, Munden N, Flournoy N, Braddock SR, Martin RA, Bocian ME, Spence MA, Hillman RE, Farmer JE. Miles JH, et al. Among authors: spence ma. Am J Med Genet A. 2008 May 1;146A(9):1101-16. doi: 10.1002/ajmg.a.32244. Am J Med Genet A. 2008. PMID: 18383511

2

Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism.

Lainhart JE, Bigler ED, Bocian M, Coon H, Dinh E, Dawson G, Deutsch CK, Dunn M, Estes A, Tager-Flusberg H, Folstein S, Hepburn S, Hyman S, McMahon W, Minshew N, Munson J, Osann K, Ozonoff S, Rodier P, Rogers S, Sigman M, Spence MA, Stodgell CJ, Volkmar F. Lainhart JE, et al. Among authors: spence ma. Am J Med Genet A. 2006 Nov 1;140(21):2257-74. doi: 10.1002/ajmg.a.31465. Am J Med Genet A. 2006. PMID: 17022081 Free PMC article.

3

Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13.

Smith M, Filipek PA, Wu C, Bocian M, Hakim S, Modahl C, Spence MA. Smith M, et al. Among authors: spence ma. Am J Med Genet. 2000 Dec 4;96(6):765-70. doi: 10.1002/1096-8628(20001204)96:6<765::aid-ajmg13>3.0.co;2-l. Am J Med Genet. 2000. PMID: 11121177

4

Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients.

Martin RA, Hunter V, Neufeld-Kaiser W, Flodman P, Spence MA, Furnas D, Martin KA. Martin RA, et al. Among authors: spence ma. Am J Med Genet. 2000 Jan 17;90(2):155-61. doi: 10.1002/(sici)1096-8628(20000117)90:2<155::aid-ajmg13>3.0.co;2-v. Am J Med Genet. 2000. PMID: 10607956

5

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.

Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB, Steinberg-Epstein R, Bocian ME, Spence MA, Smith M. Ramanathan S, et al. Among authors: spence ma. BMC Med Genet. 2004 Apr 16;5:10. doi: 10.1186/1471-2350-5-10. BMC Med Genet. 2004. PMID: 15090072 Free PMC article.

6

Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR.

Smith M, Escamilla JR, Filipek P, Bocian ME, Modahl C, Flodman P, Spence MA. Smith M, et al. Among authors: spence ma. Cytogenet Cell Genet. 2001;94(1-2):15-22. doi: 10.1159/000048775. Cytogenet Cell Genet. 2001. PMID: 11701947

7

47,XXX associated with malformations.

Haverty CE, Lin AE, Simpson E, Spence MA, Martin RA. Haverty CE, et al. Among authors: spence ma. Am J Med Genet A. 2004 Feb 15;125A(1):108-11; author reply 112. doi: 10.1002/ajmg.a.20393. Am J Med Genet A. 2004. PMID: 14755479 Review. No abstract available.

8

Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits.

Smith M, Woodroffe A, Smith R, Holguin S, Martinez J, Filipek PA, Modahl C, Moore B, Bocian ME, Mays L, Laulhere T, Flodman P, Spence MA. Smith M, et al. Among authors: spence ma. Cytogenet Genome Res. 2002;98(4):233-9. doi: 10.1159/000071040. Cytogenet Genome Res. 2002. PMID: 12826745

9

Familial diaphragmatic defects: early prenatal diagnosis and evidence for major gene inheritance.

Bocian M, Spence MA, Marazita ML, Walker AP, Weissberg DL. Bocian M, et al. Among authors: spence ma. Am J Med Genet Suppl. 1986;2:163-76. doi: 10.1002/ajmg.1320250620. Am J Med Genet Suppl. 1986. PMID: 3146286 Review.

10

Mitochondrial dysfunction in autistic patients with 15q inverted duplication.

Filipek PA, Juranek J, Smith M, Mays LZ, Ramos ER, Bocian M, Masser-Frye D, Laulhere TM, Modahl C, Spence MA, Gargus JJ. Filipek PA, et al. Among authors: spence ma. Ann Neurol. 2003 Jun;53(6):801-4. doi: 10.1002/ana.10596. Ann Neurol. 2003. PMID: 12783428 Free article.

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