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Items: 1 to 50 of 68

1.

Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development.

Cao Y, Mitchell EB, Gorski JL, Hollinger C, Hoppman NL.

Am J Med Genet A. 2016 Dec;170(12):3276-3281. doi: 10.1002/ajmg.a.37892. Epub 2016 Aug 19.

PMID:
27541078
2.

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.

Rosenfeld JA, Fox JE, Descartes M, Brewer F, Stroud T, Gorski JL, Upton SJ, Moeschler JB, Monteleone B, Neill NJ, Lamb AN, Ballif BC, Shaffer LG, Ravnan JB.

Am J Med Genet A. 2015 Feb;167A(2):345-53.

PMID:
25756153
3.

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

Rosenfeld JA, Kim KH, Angle B, Troxell R, Gorski JL, Westemeyer M, Frydman M, Senturias Y, Earl D, Torchia B, Schultz RA, Ellison JW, Tsuchiya K, Zimmerman S, Smolarek TA, Ballif BC, Shaffer LG.

Mol Syndromol. 2013 Jan;3(6):247-54. doi: 10.1159/000345578. Epub 2013 Jan 5.

4.

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A.

Eur J Hum Genet. 2013 Oct;21(10):1085-92. doi: 10.1038/ejhg.2012.306. Epub 2013 Jan 30.

5.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS.

Am J Hum Genet. 2012 May 4;90(5):925-33. doi: 10.1016/j.ajhg.2012.04.004. Epub 2012 Apr 26.

6.

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned.

Livingston J, Therrell BL Jr, Mann MY, Anderson CS, Christensen K, Gorski JL, Grange DK, Peck D, Roberston M, Rogers S, Taylor M, Kaye CI.

J Community Genet. 2011 Dec;2(4):191-200. doi: 10.1007/s12687-011-0055-z. Epub 2011 Jul 6.

7.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.

Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2.

8.

The Cdc42 guanine nucleotide exchange factor FGD1 regulates osteogenesis in human mesenchymal stem cells.

Gao L, Gorski JL, Chen CS.

Am J Pathol. 2011 Mar;178(3):969-74. doi: 10.1016/j.ajpath.2010.11.051.

9.

Unilateral frontosphenoidal craniosynostosis with achondroplasia: a case report.

Hubbard BA, Gorski JL, Muzaffar AR.

Cleft Palate Craniofac J. 2011 Sep;48(5):631-5. doi: 10.1597/09-266. Epub 2010 Sep 14.

PMID:
20839967
10.

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE.

Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14.

11.

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K.

J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14.

PMID:
19833603
12.

Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation.

Egorov MV, Capestrano M, Vorontsova OA, Di Pentima A, Egorova AV, Mariggiò S, Ayala MI, Tetè S, Gorski JL, Luini A, Buccione R, Polishchuk RS.

Mol Biol Cell. 2009 May;20(9):2413-27. doi: 10.1091/mbc.E08-11-1136. Epub 2009 Mar 4.

13.

Effect of Fgd1 on cortactin in Arp2/3 complex-mediated actin assembly.

Kim K, Hou P, Gorski JL, Cooper JA.

Biochemistry. 2004 Mar 9;43(9):2422-7.

14.
15.

Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.

Hou P, Estrada L, Kinley AW, Parsons JT, Vojtek AB, Gorski JL.

Hum Mol Genet. 2003 Aug 15;12(16):1981-93.

PMID:
12913069
16.
17.

Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion.

Martin DM, Mindell MH, Kwierant CA, Glover TW, Gorski JL.

Am J Med Genet A. 2003 Jan 30;116A(3):268-71.

PMID:
12503105
18.
19.
20.
21.
23.

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.

Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW.

Am J Hum Genet. 2000 Dec;67(6):1382-8. Epub 2000 Nov 8.

24.

In memoriam: James V. Neel, 1915-2000.

Gorski JL.

Am J Med Genet. 2000 Nov 6;95(1):1-3. No abstract available.

26.
28.

Familial Mondini dysplasia.

Griffith AJ, Telian SA, Downs C, Gorski JL, Gebarski SS, Lalwani AK, Sheldon S.

Laryngoscope. 1998 Sep;108(9):1368-73.

PMID:
9738759
29.

CDC42 and FGD1 cause distinct signaling and transforming activities.

Whitehead IP, Abe K, Gorski JL, Der CJ.

Mol Cell Biol. 1998 Aug;18(8):4689-97.

30.

Guanine nucleotide exchange factors regulate specificity of downstream signaling from Rac and Cdc42.

Zhou K, Wang Y, Gorski JL, Nomura N, Collard J, Bokoch GM.

J Biol Chem. 1998 Jul 3;273(27):16782-6.

31.

Activation of G1 progression, JNK mitogen-activated protein kinase, and actin filament assembly by the exchange factor FGD1.

Nagata K, Driessens M, Lamarche N, Gorski JL, Hall A.

J Biol Chem. 1998 Jun 19;273(25):15453-7.

32.

XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.

McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL.

Am J Med Genet. 1997 Dec 19;73(3):321-6. Review.

33.

Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene.

Pasteris NG, Buckler J, Cadle AB, Gorski JL.

Genomics. 1997 Aug 1;43(3):390-4.

PMID:
9268645
34.

The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.

Zheng Y, Fischer DJ, Santos MF, Tigyi G, Pasteris NG, Gorski JL, Xu Y.

J Biol Chem. 1996 Dec 27;271(52):33169-72.

36.

Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig.

Gorski JL, Bialecki MD, McDonald MT, Massa HF, Trask BJ, Burright EN.

Genomics. 1996 Jul 15;35(2):338-45.

PMID:
8661147
37.

Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.

Flejter WL, Bennett-Baker PE, Ghaziuddin M, McDonald M, Sheldon S, Gorski JL.

Am J Med Genet. 1996 Jan 11;61(2):182-7.

PMID:
8669450
39.

Cloning and regional localization of the mouse faciogenital dysplasia (Fgd1) gene.

Pasteris NG, de Gouyon B, Cadle AB, Campbell K, Herman GE, Gorski JL.

Mamm Genome. 1995 Sep;6(9):658-61. No abstract available.

40.

Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22.

Miller AP, Gustashaw K, Wolff DJ, Rider SH, Monaco AP, Eble B, Schlessinger D, Gorski JL, van Ommen GJ, Weissenbach J, et al.

Hum Mol Genet. 1995 Apr;4(4):731-9.

PMID:
7633424
41.

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor.

Pasteris NG, Cadle A, Logie LJ, Porteous ME, Schwartz CE, Stevenson RE, Glover TW, Wilroy RS, Gorski JL.

Cell. 1994 Nov 18;79(4):669-78.

42.

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE.

Am J Hum Genet. 1994 Mar;54(3):464-72.

43.

YAC subclone contig assembly by serial interspersed repetitive sequence (IRS)-PCR product hybridizations.

Pasteris NG, Bialecki MD, Gorski JL.

Nucleic Acids Res. 1993 Nov 11;21(22):5275-6. No abstract available.

44.

Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.

Glover TW, Verga V, Rafael J, Barcroft C, Gorski JL, Bawle EV, Higgins JV.

Hum Mol Genet. 1993 Oct;2(10):1717-8. No abstract available.

PMID:
8268928
45.

Nager acrofacial dysostosis.

McDonald MT, Gorski JL.

J Med Genet. 1993 Sep;30(9):779-82. Review. No abstract available.

46.

The molecular genetics of incontinentia pigmenti.

Gorski JL, Burright EN.

Semin Dermatol. 1993 Sep;12(3):255-65. Review.

PMID:
8105861
47.

Insidious onset of familial craniosynostosis.

Cohen SR, Dauser RC, Gorski JL.

Cleft Palate Craniofac J. 1993 Jul;30(4):401-5.

PMID:
8399270
48.

Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.

Pasteris NG, Trask BJ, Sheldon S, Gorski JL.

Hum Mol Genet. 1993 Jul;2(7):953-9.

PMID:
8103404
49.
50.

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