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Items: 18

1.

NGF-dependent neurons and neurobiology of emotions and feelings: Lessons from congenital insensitivity to pain with anhidrosis.

Indo Y.

Neurosci Biobehav Rev. 2018 Apr;87:1-16. doi: 10.1016/j.neubiorev.2018.01.013. Epub 2018 Feb 20. Review.

2.

Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.

Amin S, Forrester N, Norman A, Lux A, Vijayakumar K.

Clin Genet. 2017 Nov;92(5):559-560. doi: 10.1111/cge.13064. Epub 2017 Sep 21.

PMID:
28940190
3.

Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis.

Wang T, Li H, Xiang J, Wei B, Zhang Q, Zhu Q, Liu M, Sun M, Li H.

J Int Med Res. 2017 Apr;45(2):549-555. doi: 10.1177/0300060517691699. Epub 2017 Mar 27.

4.

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM.

Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120.

PMID:
28328124
5.

Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder.

Varma AV, McBride L, Marble M, Tilton A.

J Neurol Sci. 2016 Nov 15;370:201-210. doi: 10.1016/j.jns.2016.09.037. Epub 2016 Sep 23. Review.

PMID:
27772759
6.

Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?

Elsaid MF, Chalhoub N, Kamel H, Ehlayel M, Ibrahim N, Elsaid A, Kumar P, Khalak H, Ilyin VA, Suhre K, Abdel Aleem A.

Clin Genet. 2016 Feb;89(2):210-6. doi: 10.1111/cge.12657. Epub 2015 Sep 29.

PMID:
26285796
7.

Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report.

Wang Q, Guo S, Duan G, Xiang G, Ying Y, Zhang Y, Zhang X.

Medicine (Baltimore). 2015 May;94(19):e871. doi: 10.1097/MD.0000000000000871.

8.

Congenital insensitivity to pain with anhydrosis: report of a family case.

Labib S, Adnane Berdai M, Abourazzak S, Hida M, Harandou M.

Pan Afr Med J. 2011;9:33. Epub 2011 Jul 25.

9.

Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis.

Lee ST, Lee J, Lee M, Kim JW, Ki CS.

Muscle Nerve. 2009 Nov;40(5):855-9. doi: 10.1002/mus.21340.

PMID:
19618435
10.

Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.

Kilic SS, Ozturk R, Sarisozen B, Rotthier A, Baets J, Timmerman V.

Neurogenetics. 2009 Apr;10(2):161-5. doi: 10.1007/s10048-008-0165-x. Epub 2008 Dec 17.

PMID:
19089473
11.

Congenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis.

Shalimar A, Sharaf I, Farah Wahida I, Ruszymah BH.

J Orthop Surg (Hong Kong). 2007 Dec;15(3):357-60.

PMID:
18162686
12.

Decreased first phase insulin response in children with congenital insensitivity to pain with anhidrosis.

Schreiber R, Levy J, Loewenthal N, Pinsk V, Hershkovitz E.

J Pediatr Endocrinol Metab. 2005 Sep;18(9):873-7.

PMID:
16279365
13.
14.

[Clinical and genetic aspects of congenital insensitivity to pain with anhidrosis].

Schwarzkopf R, Pinsk V, Weisel Y, Atar D, Gorzak Y.

Harefuah. 2005 Jun;144(6):433-7, 453, 452. Review. Hebrew.

PMID:
15999564
15.

Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.

Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.

Am J Med Genet. 2000 Jun 19;92(5):353-60.

PMID:
10861667
16.

Congenital insensitivity to pain with anhidrosis. Report of a case and review of the literature.

Theodorou SD, Klimentopoulou AE, Papalouka E.

Acta Orthop Belg. 2000 Apr;66(2):137-45. Review.

PMID:
10842874
17.

Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.

Toscano E, della Casa R, Mardy S, Gaetaniello L, Sadile F, Indo Y, Pignata C, Andria G.

Neuropediatrics. 2000 Feb;31(1):39-41.

PMID:
10774995
18.

Congenital sensory neuropathy with anhidrosis.

Domingues JC, Moreno A, Mariano A, Tellechea O, Correia C, Gonçalves O, Baptista AP.

Pediatr Dermatol. 1994 Sep;11(3):231-6.

PMID:
7526354

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