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

Year Number of Results
1972 1
1975 1
1979 1
1984 1
1985 2
1986 2
1987 2
1989 1
1990 1
1992 3
1993 1
1994 1
1995 2
1996 3
1997 2
1998 4
1999 1
2000 1
2001 11
2002 4
2003 6
2004 11
2005 4
2006 5
2007 8
2008 11
2009 12
2010 17
2011 12
2012 17
2013 12
2014 11
2015 6
2016 12
2017 2
2018 7
2019 10
2020 10
2021 11
2022 5
2023 5
2024 3

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215 results

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Page 1
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. Karaca E, et al. Among authors: hunter jv. Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048. Neuron. 2015. PMID: 26539891 Free PMC article.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: hunter jv. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Infections.
Hunter JV, Goerner L. Hunter JV, et al. Handb Clin Neurol. 2016;136:1173-98. doi: 10.1016/B978-0-444-53486-6.00061-2. Handb Clin Neurol. 2016. PMID: 27430464 Review.
Neuroimaging in neurorehabilitation.
Wilde EA, Hunter JV, Bigler ED. Wilde EA, et al. Among authors: hunter jv. NeuroRehabilitation. 2012;31(3):223-6. doi: 10.3233/NRE-2012-0792. NeuroRehabilitation. 2012. PMID: 23093451
Granulocytic sarcoma.
Shah DK, Goldwein J, Uri A, Hunter JV, Kattamis A, Felix CA. Shah DK, et al. Among authors: hunter jv. Med Pediatr Oncol. 1996 Aug;27(2):132-7. doi: 10.1002/(SICI)1096-911X(199608)27:2<132::AID-MPO11>3.0.CO;2-J. Med Pediatr Oncol. 1996. PMID: 8649321 No abstract available.
Advances in pediatric neuroimaging.
Zimmerman RA, Haselgrove JC, Wang Z, Hunter JV, Morriss MC, Hoydu A, Bilaniuk LT. Zimmerman RA, et al. Among authors: hunter jv. Brain Dev. 1998 Aug;20(5):275-89. doi: 10.1016/s0387-7604(98)00023-0. Brain Dev. 1998. PMID: 9760996 Review.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Duan R, et al. Among authors: hunter jv. J Inherit Metab Dis. 2023 Nov;46(6):1195-1205. doi: 10.1002/jimd.12679. Epub 2023 Oct 5. J Inherit Metab Dis. 2023. PMID: 37711075
The phenotypic spectrum of Xia-Gibbs syndrome.
Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. Jiang Y, et al. Among authors: hunter jv. Am J Med Genet A. 2018 Jun;176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696776 Free PMC article.
Rickets in adolescence.
Hunter GJ, Schneidau A, Hunter JV, Chapman M. Hunter GJ, et al. Among authors: hunter jv. Clin Radiol. 1984 Sep;35(5):419-21. doi: 10.1016/s0009-9260(84)80207-x. Clin Radiol. 1984. PMID: 6467832
215 results