Lupski JR - Search Results

1

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD; Care4Rare Canada Consortium; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Ren D, Yoon G. Stray-Pedersen A, et al. Among authors: lupski jr. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17. Am J Hum Genet. 2016. PMID: 26708751 Free PMC article.

2

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.

3

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.

4

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.

5

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR. Wise CA, et al. Among authors: lupski jr. Am J Hum Genet. 1993 Oct;53(4):853-63. Am J Hum Genet. 1993. PMID: 8105684 Free PMC article.

6

Chromosomal duplications in bacteria, fruit flies, and humans.

Lupski JR, Roth JR, Weinstock GM. Lupski JR, et al. Am J Hum Genet. 1996 Jan;58(1):21-7. Am J Hum Genet. 1996. PMID: 8554058 Free PMC article. Review. No abstract available.

7

A clinical and molecular study of mosaicism for trisomy 17.

Shaffer LG, McCaskill C, Hersh JH, Greenberg F, Lupski JR. Shaffer LG, et al. Among authors: lupski jr. Hum Genet. 1996 Jan;97(1):69-72. doi: 10.1007/BF00218835. Hum Genet. 1996. PMID: 8557263

8

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. Reiter LT, et al. Among authors: lupski jr. Nat Genet. 1996 Mar;12(3):288-97. doi: 10.1038/ng0396-288. Nat Genet. 1996. PMID: 8589720

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

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR. Bejjani BA, et al. Among authors: lupski jr. Am J Hum Genet. 1998 Feb;62(2):325-33. doi: 10.1086/301725. Am J Hum Genet. 1998. PMID: 9463332 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

916 results

Search Page

Filters