Lupski JR - Search Results

1

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I. Stankiewicz P, et al. Among authors: lupski jr. Am J Med Genet A. 2005 Sep 15;138(1):11-7. doi: 10.1002/ajmg.a.30910. Am J Med Genet A. 2005. PMID: 16097007

2

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.

Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI. Lupski JR, et al. Nat Genet. 1992 Apr;1(1):29-33. doi: 10.1038/ng0492-29. Nat Genet. 1992. PMID: 1301995

3

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.

Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U. Patel PI, et al. Among authors: lupski jr. Nat Genet. 1992 Jun;1(3):159-65. doi: 10.1038/ng0692-159. Nat Genet. 1992. PMID: 1303228

4

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. Pentao L, et al. Among authors: lupski jr. Am J Hum Genet. 1992 Apr;50(4):690-9. Am J Hum Genet. 1992. PMID: 1347967 Free PMC article.

5

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

6

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Greenberg F, et al. Among authors: lupski jr. Am J Hum Genet. 1991 Dec;49(6):1207-18. Am J Hum Genet. 1991. PMID: 1746552 Free PMC article.

7

Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).

Lupski JR, Langston C, Friedman R, Ledbetter DH, Greenberg F. Lupski JR, et al. Am J Med Genet. 1991 Aug 1;40(2):196-8. doi: 10.1002/ajmg.1320400214. Am J Med Genet. 1991. PMID: 1897574

8

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies.

Levin ML, Shaffer LG, Lewis RAp6, Gresik MV, Lupski JR. Levin ML, et al. Among authors: lupski jr. Am J Med Genet. 1995 Jan 2;55(1):30-2. doi: 10.1002/ajmg.1320550110. Am J Med Genet. 1995. PMID: 7702093

9

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.

Chen KS, Gunaratne PH, Hoheisel JD, Young IG, Miklos GL, Greenberg F, Shaffer LG, Campbell HD, Lupski JR. Chen KS, et al. Among authors: lupski jr. Am J Hum Genet. 1995 Jan;56(1):175-82. Am J Hum Genet. 1995. PMID: 7825574 Free PMC article.

10

De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.

Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG. Shapira SK, et al. Among authors: lupski jr. Am J Med Genet. 1994 Aug 1;52(1):44-50. doi: 10.1002/ajmg.1320520109. Am J Med Genet. 1994. PMID: 7977460

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