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

131 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR. Karaca E, et al. Among authors: pehlivan d. J Clin Endocrinol Metab. 2015 Jan;100(1):E140-7. doi: 10.1210/jc.2014-1984. J Clin Endocrinol Metab. 2015. PMID: 25322266 Free PMC article.
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J. Ratajska M, et al. Among authors: pehlivan d. Eur J Med Genet. 2010 Nov-Dec;53(6):378-82. doi: 10.1016/j.ejmg.2010.08.002. Epub 2010 Aug 18. Eur J Med Genet. 2010. PMID: 20727427
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. Carvalho CM, et al. Among authors: pehlivan d. Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944. Nat Genet. 2011. PMID: 21964572 Free PMC article.
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. Hjeij R, et al. Among authors: pehlivan d. Am J Hum Genet. 2013 Aug 8;93(2):357-67. doi: 10.1016/j.ajhg.2013.06.009. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849778 Free PMC article.
Replicative mechanisms for CNV formation are error prone.
Carvalho CM, Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR. Carvalho CM, et al. Among authors: pehlivan d. Nat Genet. 2013 Nov;45(11):1319-26. doi: 10.1038/ng.2768. Epub 2013 Sep 22. Nat Genet. 2013. PMID: 24056715 Free PMC article.
131 results