Lupski JR - Search Results

1

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.

Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Poorten VV, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL. Ockeloen CW, et al. Among authors: lupski jr. Genet Med. 2016 Nov;18(11):1158-1162. doi: 10.1038/gim.2016.10. Epub 2016 Mar 10. Genet Med. 2016. PMID: 26963285 Free PMC article.

2

Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.

Lupski JR, Garcia CA, Zoghbi HY, Hoffman EP, Fenwick RG. Lupski JR, et al. Am J Med Genet. 1991 Sep 1;40(3):354-64. doi: 10.1002/ajmg.1320400323. Am J Med Genet. 1991. PMID: 1683155

3

Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.

Lupski JR, Pentao L, Williams LL, Patel PI. Lupski JR, et al. Am J Med Genet. 1993 Jan 1;45(1):92-6. doi: 10.1002/ajmg.1320450122. Am J Med Genet. 1993. PMID: 8418668

4

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Boerkoel CF, et al. Among authors: lupski jr. Am J Hum Genet. 2001 Feb;68(2):325-33. doi: 10.1086/318208. Epub 2000 Dec 15. Am J Hum Genet. 2001. PMID: 11133365 Free PMC article.

5

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.

Takashima H, Boerkoel CF, Lupski JR. Takashima H, et al. Among authors: lupski jr. Genet Med. 2001 Sep-Oct;3(5):335-42. doi: 10.1097/00125817-200109000-00002. Genet Med. 2001. PMID: 11545686 Free article.

6

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

Potocki L, Shaw CJ, Stankiewicz P, Lupski JR. Potocki L, et al. Among authors: lupski jr. Genet Med. 2003 Nov-Dec;5(6):430-4. doi: 10.1097/01.gim.0000095625.14160.ab. Genet Med. 2003. PMID: 14614393

7

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.

Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F. Szigeti K, et al. Among authors: lupski jr. J Med Genet. 2004 Feb;41(2):125-9. doi: 10.1136/jmg.2003.013789. J Med Genet. 2004. PMID: 14757860 Free PMC article.

8

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.

Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Höglund P, Okamoto N, Lupski JR. Kurotaki N, et al. Among authors: lupski jr. Genet Med. 2005 Sep;7(7):479-83. doi: 10.1097/01.gim.0000177419.43309.37. Genet Med. 2005. PMID: 16170239

9

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.

Szigeti K, Garcia CA, Lupski JR. Szigeti K, et al. Among authors: lupski jr. Genet Med. 2006 Feb;8(2):86-92. doi: 10.1097/01.gim.0000200160.29385.73. Genet Med. 2006. PMID: 16481890 Free article.

10

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.

Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J. Yan J, et al. Among authors: lupski jr. Am J Med Genet A. 2006 Jul 15;140(14):1531-41. doi: 10.1002/ajmg.a.31305. Am J Med Genet A. 2006. PMID: 16770807

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