These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
43. Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication. Hertz JM; Børglum AD; Brandt CA; Flint T; Bisgaard C Clin Genet; 1994 Oct; 46(4):291-4. PubMed ID: 7834893 [TBL] [Abstract][Full Text] [Related]
44. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Timmerman V; Nelis E; Van Hul W; Nieuwenhuijsen BW; Chen KL; Wang S; Ben Othman K; Cullen B; Leach RJ; Hanemann CO Nat Genet; 1992 Jun; 1(3):171-5. PubMed ID: 1303230 [TBL] [Abstract][Full Text] [Related]
45. Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients. Guimarães-Costa R; Iancu Ferfoglia R; Leonard-Louis S; Ziegler F; Magy L; Fournier E; Dubourg O; Bouche P; Maisonobe T; Lacour A; Moerman A; Latour P; Stojkovic T Eur J Neurol; 2017 Mar; 24(3):530-538. PubMed ID: 28211240 [TBL] [Abstract][Full Text] [Related]
46. Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction. Blair IP; Kennerson ML; Nicholson GA Clin Chem; 1995 Aug; 41(8 Pt 1):1105-8. PubMed ID: 7628084 [TBL] [Abstract][Full Text] [Related]
48. Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. King PH; Waldrop R; Lupski JR; Shaffer LG Clin Genet; 1998 Nov; 54(5):413-6. PubMed ID: 9842994 [TBL] [Abstract][Full Text] [Related]
49. Atypical presentation of Charcot-Marie-Tooth disease 1A: A case report. Kulkarni SD; Sayed R; Garg M; Patil VA Neuromuscul Disord; 2015 Nov; 25(11):916-9. PubMed ID: 26432165 [TBL] [Abstract][Full Text] [Related]
50. [PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family]. Xing JW; Liu YH; Shamsi BH; Liu XH; Tan L; Xu M Zhongguo Dang Dai Er Ke Za Zhi; 2011 Oct; 13(10):799-803. PubMed ID: 22000434 [TBL] [Abstract][Full Text] [Related]
51. [Analysis of mutations in the chromosome 17p11.2 region in patients with Charcot-Marie-Tooth type 1 disease and in patients with tomaculous neuropathy]. Zamurović N; Milić V; Dacković J; Zamurović D; Culjković B; Parlović S; Apostolski S; Romac S Srp Arh Celok Lek; 2002; 130(3-4):59-63. PubMed ID: 12154515 [TBL] [Abstract][Full Text] [Related]
52. Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Murakami T; Sun ZS; Lee CC; Lupski JR Genomics; 1997 Jan; 39(1):99-103. PubMed ID: 9027492 [TBL] [Abstract][Full Text] [Related]
53. Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. De Toffol S; Bellone E; Dulcetti F; Ruggeri AM; Maggio PP; Pulimeno MR; Mandich P; Maggi F; Simoni G; Grati FR Genet Test Mol Biomarkers; 2010 Apr; 14(2):225-31. PubMed ID: 20187762 [TBL] [Abstract][Full Text] [Related]
54. Variable phenotypes are associated with PMP22 missense mutations. Russo M; Laurá M; Polke JM; Davis MB; Blake J; Brandner S; Hughes RA; Houlden H; Bennett DL; Lunn MP; Reilly MM Neuromuscul Disord; 2011 Feb; 21(2):106-14. PubMed ID: 21194947 [TBL] [Abstract][Full Text] [Related]
55. Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2. Holmberg BH; Holmgren G; Nelis E; van Broeckhoven C; Westerberg B J Med Genet; 1994 Jun; 31(6):435-41. PubMed ID: 8071969 [TBL] [Abstract][Full Text] [Related]
56. Molecular basis of hereditary neuropathies. Chance PF Phys Med Rehabil Clin N Am; 2001 May; 12(2):277-91. PubMed ID: 11345007 [TBL] [Abstract][Full Text] [Related]
57. [Detection of the PMP22 gene duplication in peripheral neuropathy patients: a study in Mexican population]. Cortés H; Hernández-Hernández Ó; Bautista-Tirado T; Escobar-Cedillo RE; Magaña JJ; Leyva-García N Rev Neurol; 2014 Aug; 59(3):111-7. PubMed ID: 25030070 [TBL] [Abstract][Full Text] [Related]
58. Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication. Marques W; Sweeney MG; Wood NW Braz J Med Biol Res; 2003 Oct; 36(10):1403-7. PubMed ID: 14502374 [TBL] [Abstract][Full Text] [Related]
59. Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. Chance PF; Lupski JR Baillieres Clin Neurol; 1994 Aug; 3(2):373-85. PubMed ID: 7952853 [TBL] [Abstract][Full Text] [Related]
60. Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements. Lee AJ; Nam DE; Choi YJ; Noh SW; Nam SH; Lee HJ; Kim SJ; Song GJ; Choi BO; Chung KW Mol Genet Genomic Med; 2020 Sep; 8(9):e1380. PubMed ID: 32648354 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]