Stankiewicz P - Search Results

1

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

Lupski JR, Stankiewicz P. Lupski JR, et al. Among authors: stankiewicz p. PLoS Genet. 2005 Dec;1(6):e49. doi: 10.1371/journal.pgen.0010049. PLoS Genet. 2005. PMID: 16444292 Free PMC article. Review.

2

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: stankiewicz p. 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.

3

Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.

Edelmann L, Stankiewicz P, Spiteri E, Pandita RK, Shaffer L, Lupski JR, Morrow BE. Edelmann L, et al. Among authors: stankiewicz p. Genome Res. 2001 Feb;11(2):208-17. doi: 10.1101/gr.gr-1431r. Genome Res. 2001. PMID: 11157784 Free PMC article.

4

The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.

Stankiewicz P, Park SS, Inoue K, Lupski JR. Stankiewicz P, et al. Genome Res. 2001 Jul;11(7):1205-10. doi: 10.1101/gr.181101. Genome Res. 2001. PMID: 11435402 Free PMC article.

5

Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.

Stankiewicz P, Thiele H, Giannakudis I, Schlicker M, Baldermann C, Krüger A, Dörr S, Starke H, Hansmann I. Stankiewicz P, et al. Am J Med Genet. 2001 Aug 15;102(3):286-92. doi: 10.1002/ajmg.1462. Am J Med Genet. 2001. PMID: 11484209

6

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

Stankiewicz P, Thiele H, Baldermann C, Krüger A, Giannakudis I, Dörr S, Werner N, Kunz J, Rappold GA, Hansmann I. Stankiewicz P, et al. Am J Med Genet. 2001 Sep 15;103(1):56-62. doi: 10.1002/ajmg.1512. Am J Med Genet. 2001. PMID: 11562935 Review.

7

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene.

Stankiewicz P, Rujner J, Löffler C, Krüger A, Nimmakayalu M, Piłacik B, Krajewska-Walasek M, Gutkowska A, Hansmann I, Giannakudis I. Stankiewicz P, et al. Am J Med Genet. 2001 Oct 1;103(2):166-71. doi: 10.1002/ajmg.1531. Am J Med Genet. 2001. PMID: 11568926

8

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Boerkoel CF, et al. Among authors: stankiewicz p. Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799392

9

Genome architecture, rearrangements and genomic disorders.

Stankiewicz P, Lupski JR. Stankiewicz P, et al. Trends Genet. 2002 Feb;18(2):74-82. doi: 10.1016/s0168-9525(02)02592-1. Trends Genet. 2002. PMID: 11818139 Review.

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. 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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