PubMed (cited) for id: 601097

Year	Number of Results
1936	1
1979	1
1982	1
1983	1
1987	1
1988	1
1990	1
1991	5
1992	18
1993	9
1994	3
1995	5
1996	7
1997	3
1998	6
1999	8
2000	4
2001	2
2002	3
2003	2
2004	2
2005	2
2006	2
2007	1
2008	2
2009	3
2010	2
2011	2
2014	1
2018	1
2024	0

1

Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer.

Pantera H, Moran JJ, Hung HA, Pak E, Dutra A, Svaren J. Pantera H, et al. Hum Mol Genet. 2018 Aug 15;27(16):2830-2839. doi: 10.1093/hmg/ddy191. Hum Mol Genet. 2018. PMID: 29771329 Free PMC article.

2

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR. Liu P, et al. Am J Hum Genet. 2014 Mar 6;94(3):462-9. doi: 10.1016/j.ajhg.2014.01.017. Epub 2014 Feb 13. Am J Hum Genet. 2014. PMID: 24530202 Free PMC article.

3

Neuropathy in a human without the PMP22 gene.

Saporta MA, Katona I, Zhang X, Roper HP, McClelland L, Macdonald F, Brueton L, Blake J, Suter U, Reilly MM, Shy ME, Li J. Saporta MA, et al. Arch Neurol. 2011 Jun;68(6):814-21. doi: 10.1001/archneurol.2011.110. Arch Neurol. 2011. PMID: 21670407 Free PMC article.

4

Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement.

Choi BO, Kim NK, Park SW, Hyun YS, Jeon HJ, Hwang JH, Chung KW. Choi BO, et al. Neurogenetics. 2011 Feb;12(1):51-8. doi: 10.1007/s10048-010-0272-3. Epub 2010 Dec 31. Neurogenetics. 2011. PMID: 21193943

5

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Zhang F, et al. Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493460 Free PMC article.

6

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR. Zhang F, et al. Nat Genet. 2009 Jul;41(7):849-53. doi: 10.1038/ng.399. Epub 2009 Jun 21. Nat Genet. 2009. PMID: 19543269 Free PMC article.

7

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Miltenberger-Miltenyi G, Schwarzbraun T, Löscher WN, Wanschitz J, Windpassinger C, Duba HC, Seidl R, Albrecht G, Weirich-Schwaiger H, Zoller H, Utermann G, Auer-Grumbach M, Janecke AR. Miltenberger-Miltenyi G, et al. Eur J Hum Genet. 2009 Sep;17(9):1154-9. doi: 10.1038/ejhg.2009.29. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259128 Free PMC article.

8

Severe phenotype with cis-acting heterozygous PMP22 mutations.

Niedrist D, Joncourt F, Mátyás G, Müller A. Niedrist D, et al. Clin Genet. 2009 Mar;75(3):286-9. doi: 10.1111/j.1399-0004.2008.01120.x. Epub 2008 Nov 29. Clin Genet. 2009. PMID: 19067730

9

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

Al-Thihli K, Rudkin T, Carson N, Poulin C, Melançon S, Der Kaloustian VM. Al-Thihli K, et al. Am J Med Genet A. 2008 Sep 15;146A(18):2412-6. doi: 10.1002/ajmg.a.32456. Am J Med Genet A. 2008. PMID: 18698610

10

THE BAR "GENE" A DUPLICATION.

Bridges CB. Bridges CB. Science. 1936 Feb 28;83(2148):210-1. doi: 10.1126/science.83.2148.210. Science. 1936. PMID: 17796454 No abstract available.

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