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 Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1997 1
1998 2
1999 2
2000 1
2001 3
2002 1
2003 1
2004 1
2005 1
2007 1
2015 1
2016 2
2017 1
2018 3
2019 2
2021 1
2022 2
2023 1
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

25 results

Results by year

Filters applied: . Clear all
Page 1
Phenotypic continuum of NFU1-related disorders.
Kaiyrzhanov R, Zaki MS, Lau T, Sen S, Azizimalamiri R, Zamani M, Sayin GY, Hilander T, Efthymiou S, Chelban V, Brown R, Thompson K, Scarano MI, Ganesh J, Koneev K, Gülaçar IM, Person R, Sadykova D, Maidyrov Y, Seifi T, Zadagali A, Bernard G, Allis K, Elloumi HZ, Lindy A, Taghiabadi E, Verma S, Logan R, Kirmse B, Bai R, Khalaf SM, Abdel-Hamid MS, Sedaghat A, Shariati G, Issa M, Zeighami J, Elbendary HM, Brown G, Taylor RW, Galehdari H, Gleeson JJ, Carroll CJ, Cowan JA, Moreno-De-Luca A, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: scarano mi. Ann Clin Transl Neurol. 2022 Dec;9(12):2025-2035. doi: 10.1002/acn3.51679. Epub 2022 Oct 18. Ann Clin Transl Neurol. 2022. PMID: 36256512 Free PMC article.
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Schnur RE, Yousaf S, Liu J, Chung WK, Rhodes L, Marble M, Zambrano RM, Sobreira N, Jayakar P, Pierpont ME, Schultz MJ, Pichurin PN, Olson RJ, Graham GE, Osmond M, Contreras-García GA, Campo-Neira KA, Peñaloza-Mantilla CA, Flage M, Kuppa S, Navarro K, Sacoto MJG, Wentzensen IM, Scarano MI, Juusola J, Prada CE, Hufnagel RB. Schnur RE, et al. Among authors: scarano mi. Genet Med. 2021 Sep;23(9):1624-1635. doi: 10.1038/s41436-021-01182-1. Epub 2021 May 26. Genet Med. 2021. PMID: 34040189 Free PMC article.
Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.
Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJ, Neale K, Phillips RK, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IP, Heinimann K. Sieber OM, et al. Among authors: scarano mi. Proc Natl Acad Sci U S A. 2002 Mar 5;99(5):2954-8. doi: 10.1073/pnas.042699199. Epub 2002 Feb 26. Proc Natl Acad Sci U S A. 2002. PMID: 11867715 Free PMC article.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID. Sheppard S, et al. Among authors: scarano mi. Genet Med. 2018 Dec;20(12):1663-1676. doi: 10.1038/s41436-018-0004-x. Epub 2018 Jun 15. Genet Med. 2018. PMID: 29907799 Free PMC article.
Desmin-free cardiomyocytes and myocardial dysfunction in end stage heart failure.
Di Somma S, Di Benedetto MP, Salvatore G, Agozzino L, Ferranti F, Esposito S, La Dogana P, Scarano MI, Caputo G, Cotrufo M, Santo LD, de Divitiis O. Di Somma S, et al. Among authors: scarano mi. Eur J Heart Fail. 2004 Jun;6(4):389-98. doi: 10.1016/j.ejheart.2003.07.010. Eur J Heart Fail. 2004. PMID: 15182762 Free article.
Compound sarcomeric mutations causing hypertrophic cardiomyopathy in a young Sardinian soccer player: a family affair.
Marziliano N, Orrù V, Secci T, Uras S, Reverberi C, Fiscella A, Fiscella D, Merlini PA, Scarano MI, Intrieri M. Marziliano N, et al. Among authors: scarano mi. J Sports Med Phys Fitness. 2019 Dec;59(12):2084-2085. doi: 10.23736/S0022-4707.19.09882-7. Epub 2019 Jul 15. J Sports Med Phys Fitness. 2019. PMID: 31311244 No abstract available.
25 results