Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

291 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Molecular Function and Contribution of TBX4 in Development and Disease.
Karolak JA, Welch CL, Mosimann C, Bzdęga K, West JD, Montani D, Eyries M, Mullen MP, Abman SH, Prapa M, Gräf S, Morrell NW, Hemnes AR, Perros F, Hamid R, Logan MPO, Whitsett J, Galambos C, Stankiewicz P, Chung WK, Austin ED. Karolak JA, et al. Among authors: stankiewicz p. Am J Respir Crit Care Med. 2023 Apr 1;207(7):855-864. doi: 10.1164/rccm.202206-1039TR. Am J Respir Crit Care Med. 2023. PMID: 36367783 Free PMC article. Review.
Evidence against ZNF469 being causative for keratoconus in Polish patients.
Karolak JA, Gambin T, Rydzanicz M, Szaflik JP, Polakowski P, Frajdenberg A, Mrugacz M, Podfigurna-Musielak M, Stankiewicz P, Gajecka M. Karolak JA, et al. Among authors: stankiewicz p. Acta Ophthalmol. 2016 May;94(3):289-94. doi: 10.1111/aos.12968. Epub 2016 Jan 25. Acta Ophthalmol. 2016. PMID: 26806788 Free article.
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Szafranski P, Kośmider E, Liu Q, Karolak JA, Currie L, Parkash S, Kahler SG, Roeder E, Littlejohn RO, DeNapoli TS, Shardonofsky FR, Henderson C, Powers G, Poisson V, Bérubé D, Oligny L, Michaud JL, Janssens S, De Coen K, Van Dorpe J, Dheedene A, Harting MT, Weaver MD, Khan AM, Tatevian N, Wambach J, Gibbs KA, Popek E, Gambin A, Stankiewicz P. Szafranski P, et al. Among authors: stankiewicz p. Hum Mutat. 2018 Dec;39(12):1916-1925. doi: 10.1002/humu.23608. Epub 2018 Aug 22. Hum Mutat. 2018. PMID: 30084155 Free PMC article.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P. Karolak JA, et al. Among authors: stankiewicz p. Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639323 Free PMC article.
Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
Schulze KV, Szafranski P, Lesmana H, Hopkin RJ, Hamvas A, Wambach JA, Shinawi M, Zapata G, Carvalho CMB, Liu Q, Karolak JA, Lupski JR, Hanchard NA, Stankiewicz P. Schulze KV, et al. Among authors: stankiewicz p. Clin Epigenetics. 2019 Apr 8;11(1):60. doi: 10.1186/s13148-019-0655-8. Clin Epigenetics. 2019. PMID: 30961659 Free PMC article.
The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia.
Pradhan A, Dunn A, Ustiyan V, Bolte C, Wang G, Whitsett JA, Zhang Y, Porollo A, Hu YC, Xiao R, Szafranski P, Shi D, Stankiewicz P, Kalin TV, Kalinichenko VV. Pradhan A, et al. Among authors: stankiewicz p. Am J Respir Crit Care Med. 2019 Oct 15;200(8):1045-1056. doi: 10.1164/rccm.201810-1897OC. Am J Respir Crit Care Med. 2019. PMID: 31199666 Free PMC article.
291 results