1 - 25 of 31 results for author:"Spinner N.B." in Literature citations
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| NOTCH2 mutations in Alagille syndrome. Kamath B.M., Bauer R.C., Loomes K.M., Chao G., Gerfen J., Hutchinson A., Hardikar W., Hirschfield G., Jara P., Krantz I.D. et al. J. Med. Genet. 49:138-144(2012) · Mapped (6) |
| Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Francey L.J., Conlin L.K., Kadesch H.E., Clark D., Berrodin D., Sun Y., Glessner J., Hakonarson H., Jalas C., Landau C. et al. Am. J. Med. Genet. A 158A:298-308(2012) · Mapped (4) |
| Significant liver disease in a patient with Y116H mutation in the MVK gene. Leyva-Vega M., Weiss P.F., Ganesh J., Conlin L., Spinner N.B., Matthews R.P. Am. J. Med. Genet. A 155A:1461-1464(2011) · Mapped (5) |
| Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Bauer R.C., Laney A.O., Smith R., Gerfen J., Morrissette J.J., Woyciechowski S., Garbarini J., Loomes K.M., Krantz I.D., Urban Z. et al. Hum. Mutat. 31:594-601(2010) · Mapped (5) |
| Transcriptional dysregulation in NIPBL and cohesin mutant human cells. Liu J., Zhang Z., Bando M., Itoh T., Deardorff M.A., Clark D., Kaur M., Tandy S., Kondoh T., Rappaport E. et al. PLoS Biol. 7:e1000119-e1000119(2009) · Mapped (13) |
| Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype. Ryan M.J., Bales C., Nelson A., Gonzalez D.M., Underkoffler L., Segalov M., Wilson-Rawls J., Cole S.E., Moran J.L., Russo P. et al. Hepatology 48:1989-1997(2008) · Mapped (10) |
| NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. McDaniell R., Warthen D.M., Sanchez-Lara P.A., Pai A., Krantz I.D., Piccoli D.A., Spinner N.B. Am. J. Hum. Genet. 79:169-173(2006) · UniProtKB (1) · Mapped (8) |
| Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Warthen D.M., Moore E.C., Kamath B.M., Morrissette J.J.D., Sanchez P., Piccoli D.A., Krantz I.D., Spinner N.B. |
| Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Kaur M., DeScipio C., McCallum J., Yaeger D., Devoto M., Jackson L.G., Spinner N.B., Krantz I.D. Am. J. Med. Genet. A 138:27-31(2005) · Mapped (1) |
| Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. Lu F., Morrissette J.J.D., Spinner N.B. Am. J. Hum. Genet. 72:1065-1070(2003) · UniProtKB (1) · Mapped (4) |
| Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. McElhinney D.B., Krantz I.D., Bason L., Piccoli D.A., Emerick K.M., Spinner N.B., Goldmuntz E. Circulation 106:2567-2574(2002) · Mapped (5) |
| Facial features in Alagille syndrome: specific or cholestasis facies? Kamath B.M., Loomes K.M., Oakey R.J., Emerick K.E., Conversano T., Spinner N.B., Piccoli D.A., Krantz I.D. Am. J. Med. Genet. 112:163-170(2002) · Mapped (4) |
| Alagille syndrome and the Jagged1 gene. Piccoli D.A., Spinner N.B. Semin. Liver Dis. 21:525-534(2001) · Mapped (7) |
| Down syndrome congenital heart disease: a narrowed region and a candidate gene. Barlow G.M., Chen X.N., Shi Z.Y., Lyons G.E., Kurnit D.M., Celle L., Spinner N.B., Zackai E., Pettenati M.J., Van Riper A.J. et al. Genet. Med. 3:91-101(2001) · Mapped (2) |
| Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. Colliton R.P., Bason L., Lu F.-M., Piccoli D.A., Krantz I.D., Spinner N.B. Hum. Mutat. 17:151-152(2001) · UniProtKB (1) |
| Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. Morrissette J.J.D., Colliton R.P., Spinner N.B. Hum. Mol. Genet. 10:405-413(2001) · UniProtKB (1) |
| Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. Heritage M.L., MacMillan J.C., Colliton R.P., Genin A., Spinner N.B., Anderson G.J. Hum. Mutat. 16:408-416(2000) · UniProtKB (1) |
| The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome. Loomes K.M., Underkoffler L.A., Morabito J., Gottlieb S., Piccoli D.A., Spinner N.B., Baldwin H.S., Oakey R.J. Hum. Mol. Genet. 8:2443-2449(1999) · UniProtKB (1) · Mapped (7) |
| Unique forms of human and mouse nuclear receptor corepressor SMRT. Ordentlich P., Downes M., Xie W., Genin A., Spinner N.B., Evans R.M. Proc. Natl. Acad. Sci. U.S.A. 96:2639-2644(1999) · UniProtKB (2) · Mapped (12) |
| Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. Gecz J., Baker E., Donnelly A., Ming J.E., McDonnald-McGinn D.M., Spinner N.B., Zackai E.H., Sutherland G.R., Mulley J.C. Hum. Genet. 104:56-63(1999) · UniProtKB (1) |
| The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation. Shore E.M., Xu M., Shah P.B., Janoff H.B., Hahn G.V., Deardorff M.A., Sovinsky L., Spinner N.B., Zasloff M.A., Wozney J.M. et al. Calcif. Tissue Int. 63:221-229(1998) · UniProtKB (1) |
| The gene encoding human nuclear protein tyrosine phosphatase, PRL-1. Cloning, chromosomal localization, and identification of an intron enhancer. Peng Y., Genin A., Spinner N.B., Diamond R.H., Taub R. J. Biol. Chem. 273:17286-17295(1998) · UniProtKB (1) |
| Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Krantz I.D., Colliton R.P., Genin A., Rand E.B., Li L., Piccoli D.A., Spinner N.B. Am. J. Hum. Genet. 62:1361-1369(1998) · UniProtKB (1) |
| GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Seidner G., Alvarez M.G., Yeh J.I., O'Driscoll K.R., Klepper J., Stump T.S., Wang D., Spinner N.B., Birnbaum M.J., De Vivo D.C. Nat. Genet. 18:188-191(1998) · Mapped (9) |
| KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene. Wu G.S., Burns T.F., McDonald E.R. III, Jiang W., Meng R., Krantz I.D., Kao G., Gan D.D., Zhou J.Y., Muschel R. et al. Nat. Genet. 17:141-143(1997) · UniProtKB (1) |