Nicholls RD - Search Results

1

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Peñaherrera M, Michaelis RC, Abeliovich D, Schinzel AA. Robinson WP, et al. Among authors: nicholls rd. J Med Genet. 1998 Feb;35(2):130-6. doi: 10.1136/jmg.35.2.130. J Med Genet. 1998. PMID: 9580159 Free PMC article.

2

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.

Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ. Glenn CC, et al. Among authors: nicholls rd. Hum Mol Genet. 1993 Sep;2(9):1377-82. doi: 10.1093/hmg/2.9.1377. Hum Mol Genet. 1993. PMID: 8242060 Free article.

3

Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., Canada.

Robinson WP, Horsthemke B, Leonard S, Malcolm S, Morton C, Nicholls RD, Ritchie RJ, Rogan P, Schultz R, Schwartz S, Sharp J, Trent R, Wevrick R, Williamson M, Knoll JH. Robinson WP, et al. Among authors: nicholls rd. Cytogenet Cell Genet. 1997;76(1-2):1-13. doi: 10.1159/000134500. Cytogenet Cell Genet. 1997. PMID: 9154113 No abstract available.

4

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B. Buiting K, et al. Among authors: nicholls rd. Am J Hum Genet. 1998 Jul;63(1):170-80. doi: 10.1086/301935. Am J Hum Genet. 1998. PMID: 9634532 Free PMC article.

5

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: nicholls rd. Am J Med Genet. 1993 Oct 1;47(5):683-6. doi: 10.1002/ajmg.1320470519. Am J Med Genet. 1993. PMID: 8266996

6

Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.

White LM, Rogan PK, Nicholls RD, Wu BL, Korf B, Knoll JH. White LM, et al. Among authors: nicholls rd. Am J Hum Genet. 1996 Aug;59(2):423-30. Am J Hum Genet. 1996. PMID: 8755930 Free PMC article.

7

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.

Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, Eichler EE. Locke DP, et al. Among authors: nicholls rd. J Med Genet. 2004 Mar;41(3):175-82. doi: 10.1136/jmg.2003.013813. J Med Genet. 2004. PMID: 14985376 Free PMC article.

8

Unexpected familial recurrence in Angelman syndrome.

Connerton-Moyer KJ, Nicholls RD, Schwartz S, Driscoll DJ, Hendrickson JE, Williams CA, Pauli RM. Connerton-Moyer KJ, et al. Among authors: nicholls rd. Am J Med Genet. 1997 Jun 13;70(3):253-60. doi: 10.1002/(sici)1096-8628(19970613)70:3<253::aid-ajmg8>3.0.co;2-x. Am J Med Genet. 1997. PMID: 9188662

9

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.

Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM Jr, Wurster-Hill D, Wharton R, Latt SA. Nicholls RD, et al. Am J Med Genet. 1989 May;33(1):66-77. doi: 10.1002/ajmg.1320330109. Am J Med Genet. 1989. PMID: 2568752

10

Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.

Tantravahi U, Nicholls RD, Stroh H, Ringer S, Neve RL, Kaplan L, Wharton R, Wurster-Hill D, Graham JM Jr, Cantú ES, et al. Tantravahi U, et al. Among authors: nicholls rd. Am J Med Genet. 1989 May;33(1):78-87. doi: 10.1002/ajmg.1320330110. Am J Med Genet. 1989. PMID: 2750788

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