Knoll JH - Search Results

1

Relaxation of imprinting in Prader-Willi syndrome.

Rogan PK, Seip JR, White LM, Wenger SL, Steele MW, Sperling MA, Menon R, Knoll JH. Rogan PK, et al. Among authors: knoll jh. Hum Genet. 1998 Dec;103(6):694-701. doi: 10.1007/s004390050893. Hum Genet. 1998. PMID: 9921905

2

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: knoll jh. Am J Hum Genet. 1996 Aug;59(2):423-30. Am J Hum Genet. 1996. PMID: 8755930 Free PMC article.

3

Sequence-based, in situ detection of chromosomal abnormalities at high resolution.

Knoll JH, Rogan PK. Knoll JH, et al. Am J Med Genet A. 2003 Sep 1;121A(3):245-57. doi: 10.1002/ajmg.a.20123. Am J Med Genet A. 2003. PMID: 12923866

4

Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection.

White L, Knoll JH. White L, et al. Among authors: knoll jh. Am J Med Genet. 1995 Mar 13;56(1):101-5. doi: 10.1002/ajmg.1320560123. Am J Med Genet. 1995. PMID: 7747771

5

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH. Repetto GM, et al. Among authors: knoll jh. Am J Med Genet. 1998 Sep 1;79(2):82-9. doi: 10.1002/(sici)1096-8628(19980901)79:2<82::aid-ajmg2>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9741464

6

FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions.

Knoll JH, Sinnett D, Wagstaff J, Glatt K, Wilcox AS, Whiting PM, Wingrove P, Sikela JM, Lalande M. Knoll JH, et al. Hum Mol Genet. 1993 Feb;2(2):183-9. doi: 10.1093/hmg/2.2.183. Hum Mol Genet. 1993. PMID: 8388764

7

Exclusion of uniparental inheritance of chromosome 15 in a fetus with a familial dicentric (Y;15) translocation.

White LM, Treat K, Leff A, Styers D, Mitchell M, Knoll JH. White LM, et al. Among authors: knoll jh. Prenat Diagn. 1998 Feb;18(2):111-6. Prenat Diagn. 1998. PMID: 9516010

8

Sequence-based design of single-copy genomic DNA probes for fluorescence in situ hybridization.

Rogan PK, Cazcarro PM, Knoll JH. Rogan PK, et al. Among authors: knoll jh. Genome Res. 2001 Jun;11(6):1086-94. doi: 10.1101/gr.171701. Genome Res. 2001. PMID: 11381034 Free PMC article.

9

Determination of genomic copy number with quantitative microsphere hybridization.

Newkirk HL, Rogan PK, Miralles M, Knoll JH. Newkirk HL, et al. Among authors: knoll jh. Hum Mutat. 2006 Apr;27(4):376-86. doi: 10.1002/humu.20312. Hum Mutat. 2006. PMID: 16541397

10

High resolution definition of chromosome abnormalities with probes designed from genome sequences.

Knoll JH, Rogan PK. Knoll JH, et al. Discov Med. 2004 Apr;4(21):99-101. Discov Med. 2004. PMID: 20705001 Free article.

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