Finucane B - Search Results

1

Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.

Juyal RC, Finucane B, Shaffer LG, Lupski JR, Greenberg F, Scott CI, Baldini A, Patel PI. Juyal RC, et al. Among authors: finucane b. Am J Med Genet. 1995 Nov 20;59(3):406-7. doi: 10.1002/ajmg.1320590332. Am J Med Genet. 1995. PMID: 8599375 No abstract available.

2

Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome.

Finucane BM, Kurtz MB, Babu VR, Scott CI Jr. Finucane BM, et al. Am J Med Genet. 1993 Feb 15;45(4):447-9. doi: 10.1002/ajmg.1320450410. Am J Med Genet. 1993. PMID: 8465848

3

Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.

Elsea SH, Juyal RC, Jiralerspong S, Finucane BM, Pandolfo M, Greenberg F, Baldini A, Stover P, Patel PI. Elsea SH, et al. Among authors: finucane bm. Am J Hum Genet. 1995 Dec;57(6):1342-50. Am J Hum Genet. 1995. PMID: 8533763 Free PMC article.

4

Study of color vision in fragile X syndrome.

Finucane BM, Jaeger E, Dunn E, Scott CI Jr. Finucane BM, et al. Am J Med Genet. 1992 Jan 15;42(2):184-6. doi: 10.1002/ajmg.1320420210. Am J Med Genet. 1992. PMID: 1733167

5

Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome.

Finucane BM, Jaeger ER, Kurtz MB, Weinstein M, Scott CI Jr. Finucane BM, et al. Am J Med Genet. 1993 Feb 15;45(4):443-6. doi: 10.1002/ajmg.1320450409. Am J Med Genet. 1993. PMID: 8465847

6

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.

Trask BJ, Mefford H, van den Engh G, Massa HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A, Greenberg F, Lupski JR, Patel PI. Trask BJ, et al. Among authors: finucane b. Hum Genet. 1996 Dec;98(6):710-8. doi: 10.1007/s004390050291. Hum Genet. 1996. PMID: 8931707

7

Definition of the critical interval for Smith-Magenis syndrome.

Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI. Elsea SH, et al. Among authors: finucane b. Cytogenet Cell Genet. 1997;79(3-4):276-81. doi: 10.1159/000134742. Cytogenet Cell Genet. 1997. PMID: 9605871

8

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: finucane b. Clin Genet. 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x. Clin Genet. 2007. PMID: 17539903

9

New mental retardation syndrome with hearing impairment, distinct facial appearance, and skeletal anomalies.

Finucane B, Kurtz MB, Scott CI Jr. Finucane B, et al. Am J Med Genet. 1992 Jul 15;43(5):844-7. doi: 10.1002/ajmg.1320430518. Am J Med Genet. 1992. PMID: 1642273

10

The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome.

Finucane BM, Konar D, Haas-Givler B, Kurtz MB, Scott CI Jr. Finucane BM, et al. Dev Med Child Neurol. 1994 Jan;36(1):78-83. doi: 10.1111/j.1469-8749.1994.tb11770.x. Dev Med Child Neurol. 1994. PMID: 8132119

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