Potocki L - Search Results

1

Congenital diaphragmatic hernia in WAGR syndrome.

Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW. Scott DA, et al. Among authors: potocki l. Am J Med Genet A. 2005 May 1;134(4):430-3. doi: 10.1002/ajmg.a.30654. Am J Med Genet A. 2005. PMID: 15779010 Review.

2

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2).

Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR. Greenberg F, et al. Among authors: potocki l. Am J Med Genet. 1996 Mar 29;62(3):247-54. doi: 10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8882782

3

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

Potocki L, Shaffer LG. Potocki L, et al. Am J Med Genet. 1996 Mar 29;62(3):319-25. doi: 10.1002/(SICI)1096-8628(19960329)62:3<319::AID-AJMG22>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8882796 Review.

4

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.

Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. Chen KS, et al. Among authors: potocki l. Nat Genet. 1997 Oct;17(2):154-63. doi: 10.1038/ng1097-154. Nat Genet. 1997. PMID: 9326934

5

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. Wu YQ, et al. Among authors: potocki l. Am J Med Genet. 1998 Jun 16;78(1):82-9. doi: 10.1002/(sici)1096-8628(19980616)78:1<82::aid-ajmg17>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9637430

6

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR. Potocki L, et al. Am J Hum Genet. 1999 Feb;64(2):471-8. doi: 10.1086/302240. Am J Hum Genet. 1999. PMID: 9973284 Free PMC article.

7

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.

Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Potocki L, et al. Nat Genet. 2000 Jan;24(1):84-7. doi: 10.1038/71743. Nat Genet. 2000. PMID: 10615134

8

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR. Potocki L, et al. J Med Genet. 2000 Jun;37(6):428-33. doi: 10.1136/jmg.37.6.428. J Med Genet. 2000. PMID: 10851253 Free PMC article.

9

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG. Wu YQ, et al. Among authors: potocki l. Am J Hum Genet. 2000 Nov;67(5):1327-32. doi: 10.1016/S0002-9297(07)62963-2. Epub 2000 Oct 3. Am J Hum Genet. 2000. PMID: 11017806 Free PMC article.

10

Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.

Stankiewicz P, Parka SS, Holder SE, Waters CS, Palmer RW, Berend SA, Shaffer LG, Potocki L, Lupski JR. Stankiewicz P, et al. Among authors: potocki l. Clin Genet. 2001 Nov;60(5):336-44. doi: 10.1034/j.1399-0004.2001.600503.x. Clin Genet. 2001. PMID: 11903333

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