Malcolm S - Search Results

1

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.

Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH. Ungaro P, et al. Among authors: malcolm s. J Med Genet. 2001 Jan;38(1):26-34. doi: 10.1136/jmg.38.1.26. J Med Genet. 2001. PMID: 11134237 Free PMC article.

2

Nondisjunction of chromosome 15: origin and recombination.

Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA. Robinson WP, et al. Among authors: malcolm s. Am J Hum Genet. 1993 Sep;53(3):740-51. Am J Hum Genet. 1993. PMID: 8352279 Free PMC article.

3

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH. Mutirangura A, et al. Among authors: malcolm s. Hum Mol Genet. 1993 Feb;2(2):143-51. doi: 10.1093/hmg/2.2.143. Hum Mol Genet. 1993. PMID: 8499903 Free PMC article.

4

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.

Robinson WP, Christian SL, Kuchinka BD, Peñaherrera MS, Das S, Schuffenhauer S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH. Robinson WP, et al. Among authors: malcolm s. Clin Genet. 2000 May;57(5):349-58. doi: 10.1034/j.1399-0004.2000.570505.x. Clin Genet. 2000. PMID: 10852369

5

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME, Malcolm S. Clayton-Smith J, et al. Among authors: malcolm s. J Med Genet. 1993 Jun;30(6):529-31. doi: 10.1136/jmg.30.6.529. J Med Genet. 1993. PMID: 8326502 Free PMC article. Review.

6

Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.

Gilbert HL, Buxton JL, Chan CT, McKay T, Cottrell S, Ramsden S, Winter RM, Pembrey ME, Malcolm S. Gilbert HL, et al. Among authors: malcolm s. J Med Genet. 1997 Aug;34(8):651-5. doi: 10.1136/jmg.34.8.651. J Med Genet. 1997. PMID: 9279757 Free PMC article.

7

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome.

Clayton-Smith J, Webb T, Robb SA, Dijkstra I, Willems P, Lam S, Cheng XJ, Pembrey ME, Malcolm S. Clayton-Smith J, et al. Among authors: malcolm s. Am J Med Genet. 1992 Sep 15;44(2):256-60. doi: 10.1002/ajmg.1320440236. Am J Med Genet. 1992. PMID: 1360768

8

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.

Clayton-Smith J, Driscoll DJ, Waters MF, Webb T, Andrews T, Malcolm S, Pembrey ME, Nicholls RD. Clayton-Smith J, et al. Among authors: malcolm s. Am J Med Genet. 1993 Oct 1;47(5):683-6. doi: 10.1002/ajmg.1320470519. Am J Med Genet. 1993. PMID: 8266996

9

No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.

de Vries BB, Tyson J, Winter RM, Malcolm S. de Vries BB, et al. Among authors: malcolm s. Am J Med Genet. 2002 Apr 22;109(2):117-20. doi: 10.1002/ajmg.10318. Am J Med Genet. 2002. PMID: 11977159

10

Report of the fourth international workshop on human chromosome 15 mapping 1997.

Morton CC, Christian SL, Donlon TA, Driscoll DJ, Fink JK, Gabriel JM, Gotway G, Greally JM, Hitchins MP, Howard HC, Ji Y, Leonard S, Lerner T, Magenis E, Malcolm S, Ohta T, Rainier S, Rees M, Riley B, Robinson WP, Saitoh S, Schultz R, Sell S, Sharp JD, Nicholls RD, et al. Morton CC, et al. Among authors: malcolm s. Cytogenet Cell Genet. 1999;84(1-2):12-21. doi: 10.1159/000015203. Cytogenet Cell Genet. 1999. PMID: 10343092 No abstract available.

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