Zori R - Search Results

1

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

Krkljus S, Abernathy CR, Johnson JS, Williams CA, Driscoll DJ, Zori R, Stalker HJ, Rasmussen SA, Collins FS, Kousseff BG, Baumbach L, Wallace MR. Krkljus S, et al. Among authors: zori r. Hum Mutat. 1998;11(5):411. doi: 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2. Hum Mutat. 1998. PMID: 10336779

2

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.

Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD. Driscoll DJ, et al. Among authors: zori rt. Genomics. 1992 Aug;13(4):917-24. doi: 10.1016/0888-7543(92)90001-9. Genomics. 1992. PMID: 1505981

3

Angelman syndrome: clinical profile.

Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA. Zori RT, et al. J Child Neurol. 1992 Jul;7(3):270-80. doi: 10.1177/088307389200700307. J Child Neurol. 1992. PMID: 1634750 Review.

4

Phenocopy versus genocopy.

Zori RT, Williams CA. Zori RT, et al. Am J Med Genet. 1991 Aug 1;40(2):248-9. doi: 10.1002/ajmg.1320400224. Am J Med Genet. 1991. PMID: 1897581 No abstract available.

5

Relationship of autoimmunity to thyroid dysfunction in children and adults with Down syndrome.

Zori RT, Schatz DA, Ostrer H, Williams CA, Spillar R, Riley WJ. Zori RT, et al. Am J Med Genet Suppl. 1990;7:238-41. doi: 10.1002/ajmg.1320370748. Am J Med Genet Suppl. 1990. PMID: 2149955

6

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

Williams CA, Zori RT, Stone JW, Gray BA, Cantu ES, Ostrer H. Williams CA, et al. Among authors: zori rt. Am J Med Genet. 1990 Mar;35(3):350-3. doi: 10.1002/ajmg.1320350308. Am J Med Genet. 1990. PMID: 2309781

7

Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.

Alley TL, Gray BA, Lee SH, Scherer SW, Tsui LC, Tint GS, Williams CA, Zori R, Wallace MR. Alley TL, et al. Among authors: zori r. Am J Hum Genet. 1995 Jun;56(6):1411-6. Am J Hum Genet. 1995. PMID: 7762564 Free PMC article.

8

Cytogenetic and molecular analysis in Angelman syndrome.

Zackowski JL, Nicholls RD, Gray BA, Bent-Williams A, Gottlieb W, Harris PJ, Waters MF, Driscoll DJ, Zori RT, Williams CA. Zackowski JL, et al. Among authors: zori rt. Am J Med Genet. 1993 Apr 1;46(1):7-11. doi: 10.1002/ajmg.1320460104. Am J Med Genet. 1993. PMID: 8098583

9

Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.

Wallace M, Zori RT, Alley T, Whidden E, Gray BA, Williams CA. Wallace M, et al. Among authors: zori rt. Am J Med Genet. 1994 May 1;50(4):368-74. doi: 10.1002/ajmg.1320500414. Am J Med Genet. 1994. PMID: 8209918

10

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.

Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, Zackowski JL. Zori RT, et al. Am J Med Genet. 1993 Sep 15;47(4):504-11. doi: 10.1002/ajmg.1320470414. Am J Med Genet. 1993. PMID: 8256814

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