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名词信息
中 文 名:
先天性痛觉缺失
英 文 名:
congenital insensitivity to pain
中文又称:
中文曾称:
名词来源:
所属专业:
骨科
所属类别:
疾病诊断名词
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Pubmed相关的文献
congenital insensitivity to pain
相关文献:
Congenital Insensitivity to Pain: A Misnomer.
Weisman A, Quintner J, Masharawi Y.
J Pain. 2019 Sep;20(9):1011-1014. doi: 10.1016/j.jpain.2019.01.331. Epub 2019 Feb 2.
PMID:30716471
Ocular manifestations of congenital insensitivity to pain: a long-term follow-up.
Elsana B, Gradstein L, Imtirat A, Yagev R, Barrett C, Ling G, Abu Tailakh M, Baidousi A, Tsumi E.
Br J Ophthalmol. 2022 Sep;106(9):1217-1221. doi: 10.1136/bjophthalmol-2020-317464. Epub 2021 Mar 22.
PMID:33753408
Understanding the genetic basis of congenital insensitivity to pain.
Drissi I, Woods WA, Woods CG.
Br Med Bull. 2020 May 15;133(1):65-78. doi: 10.1093/bmb/ldaa003.
PMID:32219415
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I.
Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328.
PMID:37769650
[Congenital insensitivity to pain with anhidrosis: A case report and literature review].
Chen Y, Long C, Luo L.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2019 Oct 28;44(10):1203-1208. doi: 10.11817/j.issn.1672-7347.2019.190390.
PMID:31857517
Congenital Insensitivity to Pain with Anhidrosis: A Case Report.
Sulaiman NM, Alyahya E.
Cureus. 2023 Nov 5;15(11):e48294. doi: 10.7759/cureus.48294. eCollection 2023 Nov.
PMID:38058353
An SCN9A channelopathy causes congenital inability to experience pain.
Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG.
Nature. 2006 Dec 14;444(7121):894-8. doi: 10.1038/nature05413.
PMID:17167479
Novel SCN9A variant associated with congenital insensitivity to pain.
Yammine T, Aprahamian R, Souaid M, Salem N, Awwad J, Farra C.
Mol Biol Rep. 2023 Jul;50(7):6293-6298. doi: 10.1007/s11033-023-08507-0. Epub 2023 May 25.
PMID:37231219
[Congenital insensitivity to pain].
Danziger N, Willer JC.
Rev Neurol (Paris). 2009 Feb;165(2):129-36. doi: 10.1016/j.neurol.2008.05.003. Epub 2008 Jul 9.
PMID:18808773
Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A.
Marchi M, D'Amato I, Andelic M, Cartelli D, Salvi E, Lombardi R, Gumus E, Lauria G.
Pain. 2022 Jul 1;163(7):e882-e887. doi: 10.1097/j.pain.0000000000002535. Epub 2021 Nov 15.
PMID:34799533
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