遗传性原发性周围神经病。CMT1A和HNPP的分子遗传学及临床意义。 - Suppr

Suppr

超能文献

Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.

作者信息

Lupski J R, Chance P F, Garcia C A

机构信息

Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030.

出版信息

JAMA. 1993 Nov 17;270(19):2326-30. doi: 10.1001/jama.270.19.2326.

DOI:10.1001/jama.270.19.2326

PMID:8230595

Abstract

摘要

相似文献

Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.

JAMA. 1993 Nov 17;270(19):2326-30. doi: 10.1001/jama.270.19.2326.

Charcot-Marie-Tooth disease and related inherited neuropathies.

Medicine (Baltimore). 1996 Sep;75(5):233-50. doi: 10.1097/00005792-199609000-00001.

Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12.

Clin Chem. 1996 Jul;42(7):1021-5.

DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies.

Clin Chem. 1996 Jul;42(7):995-8.

Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR.

Mol Cells. 2007 Feb 28;23(1):39-48.

Single test for two hereditary neuropathies, CMT1A and HNPP.

Clin Chem. 1995 Oct;41(10):1534-5.

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.

Am J Med Genet. 1997 Mar 31;69(3):325-31.

Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye.

J Korean Med Sci. 2003 Oct;18(5):727-32. doi: 10.3346/jkms.2003.18.5.727.

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

J Med Genet. 1997 Jan;34(1):43-9. doi: 10.1136/jmg.34.1.43.

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A.

Neurology. 1998 Mar;50(3):760-3. doi: 10.1212/wnl.50.3.760.

引用本文的文献

PMP22 Regulates Cholesterol Trafficking and ABCA1-Mediated Cholesterol Efflux.

J Neurosci. 2019 Jul 3;39(27):5404-5418. doi: 10.1523/JNEUROSCI.2942-18.2019. Epub 2019 May 6.

A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.

J Med Genet. 1998 Feb;35(2):169-72. doi: 10.1136/jmg.35.2.169.

Distal hereditary upper limb muscular atrophy.

J Neurol Neurosurg Psychiatry. 1998 Feb;64(2):217-20. doi: 10.1136/jnnp.64.2.217.

A clinical and molecular study of mosaicism for trisomy 17.

Hum Genet. 1996 Jan;97(1):69-72. doi: 10.1007/BF00218835.

Chromosomal duplications in bacteria, fruit flies, and humans.

Am J Hum Genet. 1996 Jan;58(1):21-7.

A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

Am J Hum Genet. 1995 Jan;56(1):91-8.

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.

Am J Hum Genet. 1995 Jan;56(1):175-82.

Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

Am J Hum Genet. 1995 May;56(5):1156-61.

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.

J Neurol. 1995 May;242(5):295-8. doi: 10.1007/BF00878871.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验