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385 results

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Page 1
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E. Grams SE, et al. Among authors: driscoll dj. Am J Med Genet A. 2016 Apr;170A(4):967-77. doi: 10.1002/ajmg.a.37519. Epub 2015 Dec 22. Am J Med Genet A. 2016. PMID: 26692240
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.
Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, et al. Williams CA, et al. Among authors: driscoll dj. Am J Med Genet. 1995 Mar 27;56(2):237-8. doi: 10.1002/ajmg.1320560224. Am J Med Genet. 1995. PMID: 7625452 No abstract available.
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: driscoll dj. Am J Med Genet. 1993 Apr 1;46(1):7-11. doi: 10.1002/ajmg.1320460104. Am J Med Genet. 1993. PMID: 8098583
Angelman syndrome.
Williams CA, Zori RT, Hendrickson J, Stalker H, Marum T, Whidden E, Driscoll DJ. Williams CA, et al. Among authors: driscoll dj. Curr Probl Pediatr. 1995 Aug;25(7):216-31. doi: 10.1016/s0045-9380(06)80036-8. Curr Probl Pediatr. 1995. PMID: 8521718 Review. No abstract available.
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.
Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG. Rogan PK, et al. Among authors: driscoll dj. Am J Med Genet. 1996 Mar 1;62(1):10-5. doi: 10.1002/(SICI)1096-8628(19960301)62:1<10::AID-AJMG3>3.0.CO;2-#. Am J Med Genet. 1996. PMID: 8779316 Free PMC article.
NF1 mutation analysis using a combined heteroduplex/SSCP approach.
Abernathy CR, Rasmussen SA, Stalker HJ, Zori R, Driscoll DJ, Williams CA, Kousseff BG, Wallace MR. Abernathy CR, et al. Among authors: driscoll dj. Hum Mutat. 1997;9(6):548-54. doi: 10.1002/(SICI)1098-1004(1997)9:6<548::AID-HUMU8>3.0.CO;2-Y. Hum Mutat. 1997. PMID: 9195229
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: driscoll dj. 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.
A family with a grand-maternally derived interstitial duplication of proximal 15q.
Boyar FZ, Whitney MM, Lossie AC, Gray BA, Keller KL, Stalker HJ, Zori RT, Geffken G, Mutch J, Edge PJ, Voeller KS, Williams CA, Driscoll DJ. Boyar FZ, et al. Among authors: driscoll dj. Clin Genet. 2001 Dec;60(6):421-30. doi: 10.1034/j.1399-0004.2001.600604.x. Clin Genet. 2001. PMID: 11846734
385 results