Literature DB >> 8111385

Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A.

L J Valentijn1, F Baas, I Zorn, G W Hensels, M de Visser, P A Bolhuis.   

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Year:  1993        PMID： 8111385     DOI： 10.1093/hmg/2.12.2143

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  13 in total

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

Authors:  V Timmerman; B Rautenstrauss; L T Reiter; T Koeuth; A Löfgren; T Liehr; E Nelis; K D Bathke; P De Jonghe; H Grehl; J J Martin; J R Lupski; C Van Broeckhoven
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

2.  A comparison of methods for gene dosage analysis in HMSN type 1.

Authors:  J S Rowland; D E Barton; G R Taylor
Journal:  J Med Genet       Date:  2001-02       Impact factor: 6.318

Review 3.  Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Authors:  Henry Houlden; Mary M Reilly
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 4.  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

5.  The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

Authors:  K Inoue; K Dewar; N Katsanis; L T Reiter; E S Lander; K L Devon; D W Wyman; J R Lupski; B Birren
Journal:  Genome Res       Date:  2001-06       Impact factor: 9.043

6.  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

7.  Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.

Authors:  Marian A J Weterman; Fred van Ruissen; Marit de Wissel; Lou Bordewijk; Johnny P A Samijn; W Ludo van der Pol; Farid Meggouh; Frank Baas
Journal:  Eur J Hum Genet       Date:  2009-11-04       Impact factor: 4.246

8.  Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

Authors:  V Timmerman; A Löfgren; E Le Guern; P Liang; P De Jonghe; J J Martin; D Verhalle; W Robberecht; R Gouider; A Brice; C Van Broeckhoven
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

9.  Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

Authors:  K Woodward; E Kendall; D Vetrie; S Malcolm
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

10.  Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis.

Authors:  C Cudrey; C Chevillard; D Le Paslier; A Vignal; E Passage; M Fontes
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318
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