Lupski JR - Search Results

1

Identification of novel genes expressed during metanephric induction through single-cell library screening.

Abidari JM, Gonzales ET, Inoue K, Lupski JR, Karsenty G, Katsanis N. Abidari JM, et al. Among authors: lupski jr. Kidney Int. 2000 Jun;57(6):2221-8. doi: 10.1046/j.1523-1755.2000.00185.x. Kidney Int. 2000. PMID: 10844592 Free article.

2

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.

Inoue K, Osaka H, Imaizumi K, Nezu A, Takanashi J, Arii J, Murayama K, Ono J, Kikawa Y, Mito T, Shaffer LG, Lupski JR. Inoue K, et al. Among authors: lupski jr. Ann Neurol. 1999 May;45(5):624-32. Ann Neurol. 1999. PMID: 10319885

3

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.

Inoue K, Tanabe Y, Lupski JR. Inoue K, et al. Among authors: lupski jr. Ann Neurol. 1999 Sep;46(3):313-8. doi: 10.1002/1531-8249(199909)46:3<313::aid-ana6>3.0.co;2-7. Ann Neurol. 1999. PMID: 10482261

4

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Am J Hum Genet. 1999 Dec;65(6):1672-9. doi: 10.1086/302684. Am J Hum Genet. 1999. PMID: 10577921 Free PMC article.

5

Molecular mechanisms for CMT1A duplication and HNPP deletion.

Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR. Boerkoel CF, et al. Among authors: lupski jr. Ann N Y Acad Sci. 1999 Sep 14;883:22-35. Ann N Y Acad Sci. 1999. PMID: 10586226 Review.

6

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Nat Genet. 2000 Sep;26(1):67-70. doi: 10.1038/79201. Nat Genet. 2000. PMID: 10973251

7

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.

Katsanis N, Venable S, Smith JR, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Hum Genet. 2000 Jan;106(1):66-72. doi: 10.1007/s004390051011. Hum Genet. 2000. PMID: 10982184

8

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR. Beales PL, et al. Among authors: lupski jr. Am J Hum Genet. 2001 Mar;68(3):606-16. doi: 10.1086/318794. Epub 2001 Feb 1. Am J Hum Genet. 2001. PMID: 11179009 Free PMC article.

9

New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.

Badano JL, Inoue K, Katsanis N, Lupski JR. Badano JL, et al. Among authors: lupski jr. Clin Chem. 2001 May;47(5):838-43. Clin Chem. 2001. PMID: 11325886

10

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B. Inoue K, et al. Among authors: lupski jr. Genome Res. 2001 Jun;11(6):1018-33. doi: 10.1101/gr.180401. Genome Res. 2001. PMID: 11381029 Free PMC article.

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