Literature DB >> 8230595

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

J R Lupski1, P F Chance, C A Garcia.   

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Year:  1993        PMID： 8230595     DOI： 10.1001/jama.270.19.2326

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  9 in total

1.  PMP22 Regulates Cholesterol Trafficking and ABCA1-Mediated Cholesterol Efflux.

Authors:  Ye Zhou; Joshua R Miles; Hagai Tavori; Min Lin; Habibeh Khoshbouei; David R Borchelt; Hannah Bazick; Gary E Landreth; Sooyeon Lee; Sergio Fazio; Lucia Notterpek
Journal:  J Neurosci       Date:  2019-05-06       Impact factor: 6.167

2.  Distal hereditary upper limb muscular atrophy.

Authors:  D W Gross; A H Rajput; M Yeung
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-02       Impact factor: 10.154

Review 3.  Chromosomal duplications in bacteria, fruit flies, and humans.

Authors:  J R Lupski; J R Roth; G M Weinstock
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

4.  A clinical and molecular study of mosaicism for trisomy 17.

Authors:  L G Shaffer; C McCaskill; J H Hersh; F Greenberg; J R Lupski
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

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

Authors:  K S Reddy; M B Larsen
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

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

Authors:  E Nickerson; F Greenberg; M T Keating; C McCaskill; L G Shaffer
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

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

Authors:  K S Chen; P H Gunaratne; J D Hoheisel; I G Young; G L Miklos; F Greenberg; L G Shaffer; H D Campbell; J R Lupski
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

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

Authors:  P Mandich; R James; S Nassani; R Defferrari; E Bellone; G Mancardi; A Schenone; M Abbruzzese; M Rocchi; F Ajmar
Journal:  J Neurol       Date:  1995-05       Impact factor: 4.849

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

Authors:  D Lorenzetti; D Pareyson; A Sghirlanzoni; B B Roa; N E Abbas; M Pandolfo; S Di Donato; J R Lupski
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
  9 in total

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