"Genes, Neurofibromatosis 1"[MAJR] - Search Results

Year	Number of Results
1990	1
1991	14
1992	26
1993	40
1994	37
1995	39
1996	36
1997	24
1998	11
1999	31
2000	27
2001	19
2002	20
2003	21
2004	14
2005	25
2006	15
2007	21
2008	19
2009	7
2010	15
2011	21
2012	30
2013	19
2014	16
2015	12
2016	7
2017	11
2018	9
2019	7
2020	12
2021	14
2022	3
2024	0

1

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

Kehrer-Sawatzki H, Cooper DN. Kehrer-Sawatzki H, et al. Hum Genet. 2022 Feb;141(2):177-191. doi: 10.1007/s00439-021-02410-z. Epub 2021 Dec 20. Hum Genet. 2022. PMID: 34928431 Free PMC article. Review.

2

Neurofibromatosis 1.

Ferner RE. Ferner RE. Eur J Hum Genet. 2007 Feb;15(2):131-8. doi: 10.1038/sj.ejhg.5201676. Epub 2006 Sep 6. Eur J Hum Genet. 2007. PMID: 16957683 Review.

3

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Sabbagh A, Pasmant E, Imbard A, Luscan A, Soares M, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanné-Chantelot C, Vidaud D, Parfait B, Wolkenstein P. Sabbagh A, et al. Hum Mutat. 2013 Nov;34(11):1510-8. doi: 10.1002/humu.22392. Epub 2013 Aug 26. Hum Mutat. 2013. PMID: 23913538

4

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, Estivill X, Lázaro C. Ars E, et al. J Med Genet. 2003 Jun;40(6):e82. doi: 10.1136/jmg.40.6.e82. J Med Genet. 2003. PMID: 12807981 Free PMC article. No abstract available.

5

The NF1 somatic mutational landscape in sporadic human cancers.

Philpott C, Tovell H, Frayling IM, Cooper DN, Upadhyaya M. Philpott C, et al. Hum Genomics. 2017 Jun 21;11(1):13. doi: 10.1186/s40246-017-0109-3. Hum Genomics. 2017. PMID: 28637487 Free PMC article. Review.

6

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P. Fahsold R, et al. Am J Hum Genet. 2000 Mar;66(3):790-818. doi: 10.1086/302809. Am J Hum Genet. 2000. PMID: 10712197 Free PMC article.

7

Neurofibromatosis type 1.

Colman SD, Wallace MR. Colman SD, et al. Eur J Cancer. 1994;30A(13):1974-81. doi: 10.1016/0959-8049(94)00389-m. Eur J Cancer. 1994. PMID: 7734210 Review. No abstract available.

8

Emerging therapeutic targets for neurofibromatosis type 1.

Walker JA, Upadhyaya M. Walker JA, et al. Expert Opin Ther Targets. 2018 May;22(5):419-437. doi: 10.1080/14728222.2018.1465931. Epub 2018 May 7. Expert Opin Ther Targets. 2018. PMID: 29667529 Free PMC article. Review.

9

Histogenesis control genes and neurofibromatosis 1.

Riccardi VM. Riccardi VM. Eur J Pediatr. 2000 Jul;159(7):475-6. doi: 10.1007/s004310051312. Eur J Pediatr. 2000. PMID: 10923216 No abstract available.

10

The pathoetiology of neurofibromatosis 1.

Jouhilahti EM, Peltonen S, Heape AM, Peltonen J. Jouhilahti EM, et al. Am J Pathol. 2011 May;178(5):1932-9. doi: 10.1016/j.ajpath.2010.12.056. Epub 2011 Mar 31. Am J Pathol. 2011. PMID: 21457932 Free PMC article. Review.

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