Lupski JR - Search Results

1

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW. Berg JS, et al. Among authors: lupski jr. Genet Med. 2007 Jul;9(7):427-41. doi: 10.1097/gim.0b013e3180986192. Genet Med. 2007. PMID: 17666889 Free article.

2

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.

3

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

4

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

5

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.

6

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

7

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

8

Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.

Juyal RC, Greenberg F, Mengden GA, Lupski JR, Trask BJ, van den Engh G, Lindsay EA, Christy H, Chen KS, Baldini A, et al. Juyal RC, et al. Among authors: lupski jr. Am J Med Genet. 1995 Sep 11;58(3):286-91. doi: 10.1002/ajmg.1320580317. Am J Med Genet. 1995. PMID: 8533833

9

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI. Juyal RC, et al. Among authors: lupski jr. Am J Hum Genet. 1996 May;58(5):998-1007. Am J Hum Genet. 1996. PMID: 8651284 Free PMC article.

10

Charcot-Marie-Tooth disease and related inherited neuropathies.

Murakami T, Garcia CA, Reiter LT, Lupski JR. Murakami T, et al. Among authors: lupski jr. Medicine (Baltimore). 1996 Sep;75(5):233-50. doi: 10.1097/00005792-199609000-00001. Medicine (Baltimore). 1996. PMID: 8862346 Free article. Review.

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