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Items: 1 to 20 of 199

1.

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.

Nat Genet. 1996 Aug;13(4):485-8.

PMID:
8696348
2.

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.

Am J Hum Genet. 1999 Jun;64(6):1570-9.

6.

Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor.

Indo Y, Mardy S, Tsuruta M, Karim MA, Matsuda I.

Jpn J Hum Genet. 1997 Jun;42(2):343-51.

PMID:
9290260
7.

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
8.

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.

Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.

Hum Genet. 2000 Jan;106(1):116-24. Erratum in: Hum Genet 2000 May;106(5):575.

PMID:
10982191
9.
10.

A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.

Yotsumoto S, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T.

J Invest Dermatol. 1999 May;112(5):810-4.

11.

[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
12.

[Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome].

Raspall-Chaure M, Del Toro-Riera M, Gratacós M, Cuenca-León E, Ferrer I, Indo Y, Roig-Quilis M, Macaya-Ruiz A.

Rev Neurol. 2005 Aug 16-31;41(4):218-22. Spanish.

13.

Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene.

Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, Aslanidis C, Schmitz G, Falik-Zaccai TC.

Clin Genet. 2009 Mar;75(3):230-6. doi: 10.1111/j.1399-0004.2008.01143.x.

PMID:
19250380
14.

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.

Miura Y, Hiura M, Torigoe K, Numata O, Kuwahara A, Matsunaga M, Hasegawa S, Boku N, Ino H, Mardy S, Endo F, Matsuda I, Indo Y.

Hum Genet. 2000 Sep;107(3):205-9.

PMID:
11071380
15.

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
16.

Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.

Li M, Liang JY, Sun ZH, Zhang H, Yao ZR.

Genet Mol Res. 2012 Aug 13;11(3):2156-62. doi: 10.4238/2012.May.18.8.

PMID:
22653642
17.

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.

Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM, Rautenstrauss B.

Neuromuscul Disord. 2008 Feb;18(2):159-66. Epub 2008 Feb 20.

PMID:
18077166
18.

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
19.
20.

Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.

Indo Y.

Clin Genet. 2012 Oct;82(4):341-50. doi: 10.1111/j.1399-0004.2012.01943.x. Epub 2012 Aug 13. Review.

PMID:
22882139

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