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Year Number of Results
1992 1
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1995 1
1996 3
1997 4
1998 3
1999 3
2000 6
2001 7
2002 4
2003 3
2004 4
2005 3
2006 7
2007 5
2008 3
2009 5
2010 4
2011 2
2012 1
2014 1
2015 1
2016 4
2017 7
2018 10
2019 19
2020 9
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2022 8
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2024 21

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165 results

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Page 1
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
Immunoprecipitation.
Bonifacino JS, Gershlick DC, Dell'Angelica EC. Bonifacino JS, et al. Among authors: dell angelica ec. Curr Protoc Cell Biol. 2016 Jun 1;71. doi: 10.1002/cpcb.3. Curr Protoc Cell Biol. 2016. PMID: 27245424
Immunoprecipitation.
Bonifacino JS, Dell'Angelica EC, Springer TA. Bonifacino JS, et al. Among authors: dell angelica ec. Curr Protoc Protein Sci. 2001 May;Chapter 9:Unit 9.8. doi: 10.1002/0471140864.ps0908s18. Curr Protoc Protein Sci. 2001. PMID: 18429217
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network; Palmer CGS, Martinez-Agosto JA, Nelson SF. Lee H, et al. Among authors: dell angelica ec. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14. Genet Med. 2020. PMID: 31607746 Free PMC article.
Immunoprecipitation.
Bonifacino JS, Dell'Angelica EC, Springer TA. Bonifacino JS, et al. Among authors: dell angelica ec. Curr Protoc Immunol. 2001 May;Chapter 8:Unit 8.3. doi: 10.1002/0471142735.im0803s41. Curr Protoc Immunol. 2001. PMID: 18432858
Lysosome-related organelles.
Dell'Angelica EC, Mullins C, Caplan S, Bonifacino JS. Dell'Angelica EC, et al. FASEB J. 2000 Jul;14(10):1265-78. doi: 10.1096/fj.14.10.1265. FASEB J. 2000. PMID: 10877819 Review.
Immunoprecipitation.
Bonifacino JS, Dell'Angelica EC, Springer TA. Bonifacino JS, et al. Among authors: dell angelica ec. Curr Protoc Mol Biol. 2001 May;Chapter 10:Unit 10.16. doi: 10.1002/0471142727.mb1016s48. Curr Protoc Mol Biol. 2001. PMID: 18265056
Immunoprecipitation.
Bonifacino JS, Dell'Angelica EC. Bonifacino JS, et al. Among authors: dell angelica ec. Curr Protoc Cell Biol. 2001 May;Chapter 7:Unit 7.2. doi: 10.1002/0471143030.cb0702s00. Curr Protoc Cell Biol. 2001. PMID: 18228380
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
165 results