Zori RT - Search Results

1

A pathogenic role for germline PTEN variants which accumulate into the nucleus.

Mingo J, Rodríguez-Escudero I, Luna S, Fernández-Acero T, Amo L, Jonasson AR, Zori RT, López JI, Molina M, Cid VJ, Pulido R. Mingo J, et al. Among authors: zori rt. Eur J Hum Genet. 2018 Aug;26(8):1180-1187. doi: 10.1038/s41431-018-0155-x. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29706633 Free PMC article.

2

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

Zori RT, Marsh DJ, Graham GE, Marliss EB, Eng C. Zori RT, et al. Am J Med Genet. 1998 Dec 4;80(4):399-402. Am J Med Genet. 1998. PMID: 9856571

3

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. 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

4

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. Am J Hum Genet. 1995 Jun;56(6):1411-6. Am J Hum Genet. 1995. PMID: 7762564 Free PMC article.

5

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

6

Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

Hill-Harfe KL, Kaplan L, Stalker HJ, Zori RT, Pop R, Scherer G, Wallace MR. Hill-Harfe KL, et al. Among authors: zori rt. Am J Hum Genet. 2005 Apr;76(4):663-71. doi: 10.1086/429254. Am J Hum Genet. 2005. PMID: 15717285 Free PMC article.

7

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ. Lossie AC, et al. Among authors: zori rt. J Med Genet. 2001 Dec;38(12):834-45. doi: 10.1136/jmg.38.12.834. J Med Genet. 2001. PMID: 11748306 Free PMC article.

8

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Woldegebriel R, Kvist J, Andersson N, Õunap K, Reinson K, Wojcik MH, Bijlsma EK, Hoffer MJV, Ryan MM, Stark Z, Walsh M, Cuppen I, van den Boogaard MH, Bharucha-Goebel D, Donkervoort S, Winchester S, Zori R, Bönnemann CG, Maroofian R, O'Connor E, Houlden H, Zhao F, Carpén O, White M, Sreedharan J, Stewart M, Ylikallio E, Tyynismaa H. Woldegebriel R, et al. Hum Mol Genet. 2020 Jun 3;29(9):1426-1439. doi: 10.1093/hmg/ddaa051. Hum Mol Genet. 2020. PMID: 32202298 Free PMC article.

9

Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies.

Zori RT, Gray BA, Bent-Williams A, Driscoll DJ, Williams CA, Zackowski JL. Zori RT, et al. Am J Med Genet. 1993 Jun 1;46(4):379-83. doi: 10.1002/ajmg.1320460407. Am J Med Genet. 1993. PMID: 8357008

10

Association of anophthalmia and esophageal atresia.

Sandler D, Mancuso A, Becker T, Zori R, Hellrung J, Silverstein J, Burton V, Hamosh A, Williams C. Sandler D, et al. Am J Med Genet. 1995 Dec 4;59(4):484-91. doi: 10.1002/ajmg.1320590415. Am J Med Genet. 1995. PMID: 8585569

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