11
results
for author:"Stankiewicz P."
in Literature Citations
| Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., Ou Z., Wiszniewska J., Driscoll D.J., Maisenbacher M.K. et al. Am. J. Hum. Genet. 84:780-791(2009) · Mapped (1) |
| Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Carvalho C.M., Zhang F., Liu P., Patel A., Sahoo T., Bacino C.A., Shaw C., Peacock S., Pursley A., Tavyev Y.J. et al. Hum. Mol. Genet. 18:2188-2203(2009) · Mapped (5) |
| Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. Ou Z., Martin D.M., Bedoyan J.K., Cooper M.L., Chinault A.C., Stankiewicz P., Cheung S.W. Am. J. Med. Genet. A 146A:2480-2489(2008) · Mapped (7) |
| SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. Bien-Willner G.A., Stankiewicz P., Lupski J.R. Hum. Mol. Genet. 16:1143-1156(2007) · Mapped (4) |
| Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Lee J.A., Inoue K., Cheung S.W., Shaw C.A., Stankiewicz P., Lupski J.R. Hum. Mol. Genet. 15:2250-2265(2006) · Mapped (7) |
| DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K. et al. Nature 440:1045-1049(2006) · UniProtKB (913) |
| Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. Kurotaki N., Stankiewicz P., Wakui K., Niikawa N., Lupski J.R. Hum. Mol. Genet. 14:535-542(2005) · Mapped (10) |
| Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Bi W., Yan J., Stankiewicz P., Park S.-S., Walz K., Boerkoel C.F., Potocki L., Shaffer L.G., Devriendt K., Nowaczyk M.J.M. et al. Genome Res. 12:713-728(2002) · UniProtKB (7) |
| Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Boerkoel C.F., Takashima H., John J., Yan J., Stankiewicz P., Rosenbarker L., Andre J.-L., Bogdanovic R., Burguet A., Cockfield S. et al. Nat. Genet. 30:215-220(2002) · UniProtKB (1) |
| 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 R.K., Shaffer L., Lupski J., Morrow B.E. |
| Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Boerkoel C.F., Takashima H., Stankiewicz P., Garcia C.A., Leber S.M., Rhee-Morris L., Lupski J.R. Am. J. Hum. Genet. 68:325-333(2001) · UniProtKB (1) |
