641 related articles for article (PubMed ID: 23913538)
1. 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
Hum Mutat; 2013 Nov; 34(11):1510-8. PubMed ID: 23913538
[TBL] [Abstract][Full Text] [Related]
2. Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
Ko JM; Sohn YB; Jeong SY; Kim HJ; Messiaen LM
Pediatr Neurol; 2013 Jun; 48(6):447-53. PubMed ID: 23668869
[TBL] [Abstract][Full Text] [Related]
3. NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
Imbard A; Pasmant E; Sabbagh A; Luscan A; Soares M; Goussard P; Blanché H; Laurendeau I; Ferkal S; Vidaud M; Pinson S; Bellanne-Chantelot C; Vidaud D; Wolkenstein P; ; Parfait B
J Hum Genet; 2015 Apr; 60(4):221-4. PubMed ID: 25631097
[TBL] [Abstract][Full Text] [Related]
4. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L; Yao S; Brems H; Callens T; Sathienkijkanchai A; Denayer E; Spencer E; Arn P; Babovic-Vuksanovic D; Bay C; Bobele G; Cohen BH; Escobar L; Eunpu D; Grebe T; Greenstein R; Hachen R; Irons M; Kronn D; Lemire E; Leppig K; Lim C; McDonald M; Narayanan V; Pearn A; Pedersen R; Powell B; Shapiro LR; Skidmore D; Tegay D; Thiese H; Zackai EH; Vijzelaar R; Taniguchi K; Ayada T; Okamoto F; Yoshimura A; Parret A; Korf B; Legius E
JAMA; 2009 Nov; 302(19):2111-8. PubMed ID: 19920235
[TBL] [Abstract][Full Text] [Related]
5. Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
Jang MA; Kim YE; Kim SK; Lee MK; Kim JW; Ki CS
J Hum Genet; 2016 Aug; 61(8):705-9. PubMed ID: 27074763
[TBL] [Abstract][Full Text] [Related]
6. Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
Kang E; Kim YM; Seo GH; Oh A; Yoon HM; Ra YS; Kim EK; Kim H; Heo SH; Kim GH; Osborn MJ; Tolar J; Yoo HW; Lee BH
J Hum Genet; 2020 Jan; 65(2):79-89. PubMed ID: 31776437
[TBL] [Abstract][Full Text] [Related]
7. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
Pasmant E; Sabbagh A; Spurlock G; Laurendeau I; Grillo E; Hamel MJ; Martin L; Barbarot S; Leheup B; Rodriguez D; Lacombe D; Dollfus H; Pasquier L; Isidor B; Ferkal S; Soulier J; Sanson M; Dieux-Coeslier A; Bièche I; Parfait B; Vidaud M; Wolkenstein P; Upadhyaya M; Vidaud D;
Hum Mutat; 2010 Jun; 31(6):E1506-18. PubMed ID: 20513137
[TBL] [Abstract][Full Text] [Related]
8. Neurofibromatosis type 1: from genotype to phenotype.
Pasmant E; Vidaud M; Vidaud D; Wolkenstein P
J Med Genet; 2012 Aug; 49(8):483-9. PubMed ID: 22889851
[TBL] [Abstract][Full Text] [Related]
9. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
van Minkelen R; van Bever Y; Kromosoeto JN; Withagen-Hermans CJ; Nieuwlaat A; Halley DJ; van den Ouweland AM
Clin Genet; 2014 Apr; 85(4):318-27. PubMed ID: 23656349
[TBL] [Abstract][Full Text] [Related]
10. Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
N Abdel-Aziz N; Y El-Kamah G; A Khairat R; R Mohamed H; Z Gad Y; El-Ghor AM; Amr KS
Mol Genet Genomic Med; 2021 Dec; 9(12):e1631. PubMed ID: 34080803
[TBL] [Abstract][Full Text] [Related]
11. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
Ekvall S; Sjörs K; Jonzon A; Vihinen M; Annerén G; Bondeson ML
Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
[TBL] [Abstract][Full Text] [Related]
12. Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
Zhang J; Tong H; Fu X; Zhang Y; Liu J; Cheng R; Liang J; Peng J; Sun Z; Liu H; Zhang F; Lu W; Li M; Yao Z
Sci Rep; 2015 Jun; 5():11291. PubMed ID: 26056819
[TBL] [Abstract][Full Text] [Related]
13. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Messiaen LM; Callens T; Mortier G; Beysen D; Vandenbroucke I; Van Roy N; Speleman F; Paepe AD
Hum Mutat; 2000; 15(6):541-55. PubMed ID: 10862084
[TBL] [Abstract][Full Text] [Related]
14. Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.
Mao B; Chen S; Chen X; Yu X; Zhai X; Yang T; Li L; Wang Z; Zhao X; Zhang X
BMC Med Genet; 2018 Jun; 19(1):101. PubMed ID: 29914388
[TBL] [Abstract][Full Text] [Related]
15. Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors.
Kluwe L; Friedrich RE; Peiper M; Friedman J; Mautner VF
Hum Mutat; 2003 Nov; 22(5):420. PubMed ID: 14517963
[TBL] [Abstract][Full Text] [Related]
16. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.
Terzi YK; Oguzkan-Balci S; Anlar B; Aysun S; Guran S; Ayter S
Genet Couns; 2009; 20(2):195-202. PubMed ID: 19650418
[TBL] [Abstract][Full Text] [Related]
17. Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation.
Ars E; Kruyer H; Gaona A; Serra E; Lázaro C; Estivill X
Prenat Diagn; 1999 Aug; 19(8):739-42. PubMed ID: 10451518
[TBL] [Abstract][Full Text] [Related]
18. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
Ars E; Serra E; García J; Kruyer H; Gaona A; Lázaro C; Estivill X
Hum Mol Genet; 2000 Jan; 9(2):237-47. PubMed ID: 10607834
[TBL] [Abstract][Full Text] [Related]
19. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.
Sharif S; Upadhyaya M; Ferner R; Majounie E; Shenton A; Baser M; Thakker N; Evans DG
J Med Genet; 2011 Apr; 48(4):256-60. PubMed ID: 21278392
[TBL] [Abstract][Full Text] [Related]
20. Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.
Hernández-Imaz E; Campos B; Rodríguez-Álvarez FJ; Abad O; Melean G; Gardenyes J; Martín Y; Hernández-Chico C
Clin Genet; 2013 May; 83(5):462-6. PubMed ID: 22925204
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
