373 related articles for article (PubMed ID: 10699117)
1. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.
DeBella K; Szudek J; Friedman JM
Pediatrics; 2000 Mar; 105(3 Pt 1):608-14. PubMed ID: 10699117
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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
Hum Genet; 2022 Feb; 141(2):177-191. PubMed ID: 34928431
[TBL] [Abstract][Full Text] [Related]
4. Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.
Yao R; Wang L; Yu Y; Wang J; Shen Y
J Dermatol; 2016 May; 43(5):537-42. PubMed ID: 26458495
[TBL] [Abstract][Full Text] [Related]
5. In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients.
Parrozzani R; Clementi M; Frizziero L; Miglionico G; Perrini P; Cavarzeran F; Kotsafti O; Comacchio F; Trevisson E; Convento E; Fusetti S; Midena E
Invest Ophthalmol Vis Sci; 2015 Sep; 56(10):6036-42. PubMed ID: 26393470
[TBL] [Abstract][Full Text] [Related]
6. [Phenotypic and genetic features in neurofibromatosis type 1 in children].
Duat Rodríguez A; Martos Moreno GÁ; Martín Santo-Domingo Y; Hernández Martín A; Espejo-Saavedra Roca JM; Ruiz-Falcó Rojas ML; Argente J
An Pediatr (Barc); 2015 Sep; 83(3):173-82. PubMed ID: 25541118
[TBL] [Abstract][Full Text] [Related]
7. Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature.
Bernier A; Larbrisseau A; Perreault S
Pediatr Neurol; 2016 Jul; 60():24-29.e1. PubMed ID: 27212418
[TBL] [Abstract][Full Text] [Related]
8. Neurofibromatosis Type 1: Diagnostic Timelines in Children.
García-Martínez FJ; Hernández-Martín A
Actas Dermosifiliogr; 2023 Mar; 114(3):187-193. PubMed ID: 36370836
[TBL] [Abstract][Full Text] [Related]
9. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG; Bowers N; Burkitt-Wright E; Miles E; Garg S; Scott-Kitching V; Penman-Splitt M; Dobbie A; Howard E; Ealing J; Vassalo G; Wallace AJ; Newman W; ; Huson SM
EBioMedicine; 2016 May; 7():212-20. PubMed ID: 27322474
[TBL] [Abstract][Full Text] [Related]
10. Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1.
Nunley KS; Gao F; Albers AC; Bayliss SJ; Gutmann DH
Arch Dermatol; 2009 Aug; 145(8):883-7. PubMed ID: 19687418
[TBL] [Abstract][Full Text] [Related]
11. Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
Corsello G; Antona V; Serra G; Zara F; Giambrone C; Lagalla L; Piccione M; Piro E
Ital J Pediatr; 2018 Apr; 44(1):45. PubMed ID: 29618358
[TBL] [Abstract][Full Text] [Related]
12. Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?
Van-Gils J; Harambat J; Jubert C; Vidaud D; Llanas B; Perel Y; Lacombe D; Goizet C
Eur J Med Genet; 2014; 57(11-12):639-42. PubMed ID: 25234363
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [Managing children with neurofibromatosis type 1: what should we look for?].
Martins CL; Monteiro JP; Farias A; Fernandes R; Fonseca MJ
Acta Med Port; 2007; 20(5):393-400. PubMed ID: 18282435
[TBL] [Abstract][Full Text] [Related]
15. Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion.
Marque M; Roubertie A; Jaussent A; Carneiro M; Meunier L; Guillot B; Pinson L; Pinson S; Bessis D
J Am Acad Dermatol; 2013 Nov; 69(5):768-775. PubMed ID: 23972508
[TBL] [Abstract][Full Text] [Related]
16. Neurofibromatosis type 1: A comparison of the 1997 NIH and the 2021 revised diagnostic criteria in 75 children and adolescents.
Angelova-Toshkina D; Holzapfel J; Huber S; Schimmel M; Wieczorek D; Gnekow AK; Frühwald MC; Kuhlen M
Genet Med; 2022 Sep; 24(9):1978-1985. PubMed ID: 35713653
[TBL] [Abstract][Full Text] [Related]
17. An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer.
Hernández-Martín A; Duat-Rodríguez A
Actas Dermosifiliogr; 2016; 107(6):465-73. PubMed ID: 26956402
[TBL] [Abstract][Full Text] [Related]
18. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
Pasmant E; Sabbagh A; Hanna N; Masliah-Planchon J; Jolly E; Goussard P; Ballerini P; Cartault F; Barbarot S; Landman-Parker J; Soufir N; Parfait B; Vidaud M; Wolkenstein P; Vidaud D; France RN
J Med Genet; 2009 Jul; 46(7):425-30. PubMed ID: 19366998
[TBL] [Abstract][Full Text] [Related]
19. Neurofibromatosis 1 in childhood.
North KN
Semin Pediatr Neurol; 1998 Dec; 5(4):231-42. PubMed ID: 9874851
[TBL] [Abstract][Full Text] [Related]
20. The diagnosis of neurofibromatosis-1 in the child under the age of 6 years.
Obringer AC; Meadows AT; Zackai EH
Am J Dis Child; 1989 Jun; 143(6):717-9. PubMed ID: 2499182
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
