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

482 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Choi M, et al. Among authors: mane s. Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27. Proc Natl Acad Sci U S A. 2009. PMID: 19861545 Free PMC article.
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von Und Zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaál E, Bayri Y, Kolb L, Arlier Z, Ravuri S, Ronkainen A, Tajima A, Laakso A, Hata A, Kasuya H, Koivisto T, Rinne J, Ohman J, Breteler MM, Wijmenga C, State MW, Rinkel GJ, Hernesniemi J, Jääskeläinen JE, Palotie A, Inoue I, Lifton RP, Günel M. Bilguvar K, et al. Among authors: mane s. Nat Genet. 2008 Dec;40(12):1472-7. doi: 10.1038/ng.240. Epub 2008 Nov 9. Nat Genet. 2008. PMID: 18997786 Free PMC article.
Genome-wide association study of intracranial aneurysm identifies three new risk loci.
Yasuno K, Bilguvar K, Bijlenga P, Low SK, Krischek B, Auburger G, Simon M, Krex D, Arlier Z, Nayak N, Ruigrok YM, Niemelä M, Tajima A, von und zu Fraunberg M, Dóczi T, Wirjatijasa F, Hata A, Blasco J, Oszvald A, Kasuya H, Zilani G, Schoch B, Singh P, Stüer C, Risselada R, Beck J, Sola T, Ricciardi F, Aromaa A, Illig T, Schreiber S, van Duijn CM, van den Berg LH, Perret C, Proust C, Roder C, Ozturk AK, Gaál E, Berg D, Geisen C, Friedrich CM, Summers P, Frangi AF, State MW, Wichmann HE, Breteler MM, Wijmenga C, Mane S, Peltonen L, Elio V, Sturkenboom MC, Lawford P, Byrne J, Macho J, Sandalcioglu EI, Meyer B, Raabe A, Steinmetz H, Rüfenacht D, Jääskeläinen JE, Hernesniemi J, Rinkel GJ, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. Yasuno K, et al. Among authors: mane s. Nat Genet. 2010 May;42(5):420-5. doi: 10.1038/ng.563. Epub 2010 Apr 4. Nat Genet. 2010. PMID: 20364137 Free PMC article.
L-histidine decarboxylase and Tourette's syndrome.
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. Ercan-Sencicek AG, et al. Among authors: mane s. N Engl J Med. 2010 May 20;362(20):1901-8. doi: 10.1056/NEJMoa0907006. Epub 2010 May 5. N Engl J Med. 2010. PMID: 20445167 Free PMC article.
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoğlu D, Tüysüz B, Cağlayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandaş S, Topçu M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M. Bilgüvar K, et al. Among authors: mane s. Nature. 2010 Sep 9;467(7312):207-10. doi: 10.1038/nature09327. Epub 2010 Aug 22. Nature. 2010. PMID: 20729831 Free PMC article.
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.
Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M. Mistry PK, et al. Among authors: mane s. Proc Natl Acad Sci U S A. 2010 Nov 9;107(45):19473-8. doi: 10.1073/pnas.1003308107. Epub 2010 Oct 20. Proc Natl Acad Sci U S A. 2010. PMID: 20962279 Free PMC article.
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.
Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G, Åkerström G, Wang W, Carling T, Lifton RP. Choi M, et al. Among authors: mane s. Science. 2011 Feb 11;331(6018):768-72. doi: 10.1126/science.1198785. Science. 2011. PMID: 21311022 Free PMC article.
Recessive LAMC3 mutations cause malformations of occipital cortical development.
Barak T, Kwan KY, Louvi A, Demirbilek V, Saygı S, Tüysüz B, Choi M, Boyacı H, Doerschner K, Zhu Y, Kaymakçalan H, Yılmaz S, Bakırcıoğlu M, Cağlayan AO, Oztürk AK, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Ozçelik T, Lifton RP, Sestan N, Bilgüvar K, Günel M. Barak T, et al. Among authors: mane s. Nat Genet. 2011 Jun;43(6):590-4. doi: 10.1038/ng.836. Epub 2011 May 15. Nat Genet. 2011. PMID: 21572413 Free PMC article.
482 results