
VON RECKLINGHAUSEN DISEASE:
ONE PATIENT – VARIOUS PROBLEMS Bergler-Czop B, Miziołek B, Brzezińska-Wcisło L *Corresponding Author: Associate Professor Beata Bergler-Czop, Department of Dermatology, Silesian
Medical University Katowice, Francuska Street 20/24, 40-027, Katowice, Poland. Tel./Fax: +48-32-284-
0877. E-mail: bettina2@tlen.pl page: 95
|
REFERENCES
1. Braun-Falco O, Plewig G, Wolff HH, Burgdorf
WHC. Fakomatozy. In: Braun-Falco O, Plewig
G, Wolff HH, Burgdorf WHC, Eds. Dermatologia.
Lublin, Poland: Czelej. 2002; 793-797.
2. Sabol Z, Kipke-Sabol L. Neurofibromatosis type
1 (von Recklinghausen disease or peripheral
neurofibromatosis): From phenotype to gene.
Lijec Vjesn. 2005; 127(11-12): 303-311.
3. Abramowicz A, Gos M. Neurofibromin in neurofi-
bromatosis type 1 – Mutations in NF1gene
as a cause of disease. Dev Period Med. 2014;
18(3): 297-306.
4. Shofty B, Constantini S, Ben-Shachar S. Advances
in molecular diagnosis of neurofibromatosis
type 1. Semin Pediatr Neurol. 2015; 22(4):
234-239.
5. Ferner RE. Neurofibromatosis 1. In: Ferner RE,
Huson SM, Evans DGR, Eds. Neurofibromatoses
in Clinical Practice. London, UK: Springer-
Verlag. 2011; 27-30.
6. Rasmussen S, Friedman JM. NF1 gene and
neurofi-bromatosis 1. Am J Epidemiol. 2000;
151(1): 33-40.
7. Bunin GR, Needle M, Riccardi VM. Paternal age
and sporadic neurofibromatosis 1: A case-control
study and consideration of the methodologic issues.
Genet Epidemiol. 1997; 14(5): 1507-1516.
8. Laycock-van Spyk S, Thomas N, Cooper DN,
Upadhyaya M. Neurofibromatosis type 1-associated
tumours: Their somatic mutational spectrum
and pathogenesis. Hum Genomics. 2011; 5(6):
623-690.
9. Yap YS, McPherson JR, Ong CK, Rozen SG,
Teh BT, Lee AS, et al. The NF1 gene revisited –
From bench to bedside. Oncotarget. 2014; 5(15):
5873-5892.
10. Brems H, Beert E, de Ravel T, Legius E. Mechanisms
in the pathogenesis of malignant tumours
in neurofibromatosis type 1. Lancet Oncol. 2009;
10(5): 508-515.
11. Venturin M, Guarnieri P, Natacci F, Stabile M,
Tenconi R, Clementi M, et al. Mental retardation
and cardiovascular malformations in NF1
microdeleted patients point to candidate genes
in 17q11.2. J Med Genet. 2004; 41(1): 35-41.
12. Pasmant E, de Saint-Trivier A, Laurendeau I,
Dieux-Coeslier A, Parfait B, Vidaud M, et al.
Characterization of a 7.6-Mb germline deletion
encompassing the NF1 locus and about a hundred
genes in an NF1 contiguous gene syndrome patient.
Eur J Hum Genet. 2008; 16(12): 1459-1466.
13 Sharif S, Upadhyaya M, Ferner R, Majounie E,
Shenton A, Baser M, et al. A molecular analysis
of individuals with neurofibromatosis type 1
(NF1) and optic pathway gliomas (OPGs), and
an assessment of genotype-phenotype correlations.
J Med Genet. 2011; 48(4): 256-260.
14. Upadhyaya M, Huson SM, Davies M, Thomas N,
Chuzhanova N, Giovannini S, et al. An absence
of cutaneous neurofibromas associated with a
3-bp inframe deletion in exon 17 of the NF1 gene
(c.2970-2972delAAT): evidence of a clinically
significant NF1 genotype-phenotype correlation.
Am J Hum Genet. 2007; 80(1): 140-151.
15. Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens
T, Chen Y, et al. High incidence of Noonan
syndrome features including short stature and
pulmonic stenosis in patients carrying NF1 missense
mutations affecting p.Arg 1809: Genotype-
phenotype correlation. Hum Mutat. 2015;
36(11): 1052-1063.
16. Pinna V, Lanari V, Daniele P, Consoli F, Agolini
E, Margiotti K, et al. p.Arg1809Cys Substitution
in neu-rofibromin is associated with a distinctive NF1 phenotype without neurofibromas. Eur J
Hum Genet. 2015; 23(8): 1068-1071.
17. Kehrer-Sawatzki H. Neurofibromatosis type 1
without neurofibromas: Genotype-phenotype
correlations in NF1. Hum Mutat. 2015; 36(11):
doi: 10.1002/humu. 22669.
18. Santoro C, Maietta A, Giugliano T, Melis D, Perrotta
S, Nigro V, et al. Arg(1809) Substitution in
neurofibromin: Further evidence of a genotypephenotype
correlation in neurofibromatosis type
1. Eur J Hum Genet. 2015; 23(11): 1460-1461.
19. Bayliss S, Mallory F, Bree A, Chern P. Dermatologia
pediatryczna. In: Bayliss S, Mallory F,
Bree A, Chern P, Eds. Diagnostyka i Leczenie.
Lublin, Poland: Czelej. 2007; 387-389.
20. Baran E. Nowotwory skóry, klinika, patologia,
leczenie. In: Baran E, Ed. Łódź, Poland: Galaktyka.
2008; 195-197.
21. Sumner K, Crockett DK, Muram T, Mallempati
K, Best H, Mao R. The SPRED1 variants repository
for Legius syndrome. G3 (Bethesda). 2011;
1(6): 451-456.
22. Lodish MB, Stratakis CA. Endocrine tumours
in neurofibromatosis type 1, tuberous sclerosis
and related syndromes. Best Pract Res Clin Endocrinol
Metab. 2010; 24(3): 439-449.
|
|
|
|



 |
Number 27 VOL. 27 (2), 2024 |
Number 27 VOL. 27 (1), 2024 |
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|