91 related articles for article (PubMed ID: 20605257)
1. Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.
Boyd KP; Gao L; Feng R; Beasley M; Messiaen L; Korf BR; Theos A
J Am Acad Dermatol; 2010 Sep; 63(3):440-7. PubMed ID: 20605257
[TBL] [Abstract][Full Text] [Related]
2. Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.
Banerjee S; Lei D; Liang S; Yang L; Liu S; Wei Z; Tang JP
Oncotarget; 2017 Jun; 8(24):39695-39702. PubMed ID: 27980226
[TBL] [Abstract][Full Text] [Related]
3. Rhabdomyosarcoma as the first presentation in Neurofibromatosis Type 1: case series and review of the literature.
Castle AMR; Empringham B; Pinto LM; Villani A; Kanwar N; Abbott LS; Sawyer SL
Pediatr Hematol Oncol; 2023; 40(5):506-515. PubMed ID: 36625737
[TBL] [Abstract][Full Text] [Related]
4. Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.
Kocabey M; Özkalaycı H; Çankaya T; Yılmaz Uzman C; Çağlayan AO; Ülgenalp A; Erçal MD
Int J Dev Neurosci; 2023 Aug; 83(5):456-465. PubMed ID: 37280783
[TBL] [Abstract][Full Text] [Related]
5. [Analysis of clinical features and variants of NF1 gene in 12 patients with Neurofibromatosis type 1].
Zhang Y; Yan L; Xie M; Xue J; Zhuang D; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1478-1483. PubMed ID: 37994127
[TBL] [Abstract][Full Text] [Related]
6. Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.
Sarantou S; Marinakis NM; Traeger-Synodinos J; Siomou E; Ntinopoulos A; Serbis A
Mol Biol Rep; 2024 Jan; 51(1):216. PubMed ID: 38281202
[TBL] [Abstract][Full Text] [Related]
7. Epilepsy in Legius syndrome: Coincidence or causation?
Medina Lemus A; Boelman C; Myers KA
Am J Med Genet A; 2024 Jun; 194(6):e63547. PubMed ID: 38268057
[TBL] [Abstract][Full Text] [Related]
8. Treatment With Selumetinib for Café-au-Lait Macules and Plexiform Neurofibroma in Pediatric Patients With Neurofibromatosis Type 1.
Guo YX; Wang HX; Wang SS; Croitoru D; Piguet V; Gao XH; Xu XG
JAMA Dermatol; 2024 Mar; 160(3):366-368. PubMed ID: 38198164
[TBL] [Abstract][Full Text] [Related]
9. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Rojnueangnit K; Xie J; Gomes A; Sharp A; Callens T; Chen Y; Liu Y; Cochran M; Abbott MA; Atkin J; Babovic-Vuksanovic D; Barnett CP; Crenshaw M; Bartholomew DW; Basel L; Bellus G; Ben-Shachar S; Bialer MG; Bick D; Blumberg B; Cortes F; David KL; Destree A; Duat-Rodriguez A; Earl D; Escobar L; Eswara M; Ezquieta B; Frayling IM; Frydman M; Gardner K; Gripp KW; Hernández-Chico C; Heyrman K; Ibrahim J; Janssens S; Keena BA; Llano-Rivas I; Leppig K; McDonald M; Misra VK; Mulbury J; Narayanan V; Orenstein N; Galvin-Parton P; Pedro H; Pivnick EK; Powell CM; Randolph L; Raskin S; Rosell J; Rubin K; Seashore M; Schaaf CP; Scheuerle A; Schultz M; Schorry E; Schnur R; Siqveland E; Tkachuk A; Tonsgard J; Upadhyaya M; Verma IC; Wallace S; Williams C; Zackai E; Zonana J; Lazaro C; Claes K; Korf B; Martin Y; Legius E; Messiaen L
Hum Mutat; 2015 Nov; 36(11):1052-63. PubMed ID: 26178382
[TBL] [Abstract][Full Text] [Related]
10. Piebaldism with café-au-lait macules resulting from a novel mutation of KIT gene in a three-generation Chinese family.
Li X; Xing X; Liang X; Song C; Yang J; Ren D; Zhou Y
Skin Res Technol; 2023 Jun; 29(6):e13352. PubMed ID: 37357653
[TBL] [Abstract][Full Text] [Related]
11. Pathogenesis and treatment of a giant occipital bone defect with meningoencephalocele in an NF1 child: case report and review of the literature.
Antico A; Vitulli F; Rossi A; Gaggero G; Piatelli G; Consales A
Childs Nerv Syst; 2024 Jan; 40(1):27-39. PubMed ID: 37993698
[TBL] [Abstract][Full Text] [Related]
12. Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature.
Zheng Q; Xia B; Zhao X; Wang R; Xie F; Pei N; Tao H; Ding T; Liu L
BMC Pediatr; 2023 May; 23(1):259. PubMed ID: 37226143
[TBL] [Abstract][Full Text] [Related]
13. Cutaneous findings in Fanconi anemia.
Ruggiero JL; Dodds M; Freese R; Polcari IC; Maguiness S; Hook KP; Boull C
J Am Acad Dermatol; 2021 Nov; 85(5):1253-1258. PubMed ID: 32822789
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules.
Ben-Shachar S; Dubov T; Toledano-Alhadef H; Mashiah J; Sprecher E; Constantini S; Leshno M; Messiaen LM
J Am Acad Dermatol; 2017 Jun; 76(6):1077-1083.e3. PubMed ID: 28318682
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.
Nasi L; Alexopoulos A; Kokkinou E; Roka K; Tzetis M; Tsipi M; Kakourou T; Kanaka-Gantenbein C; Chrousos G; Kattamis A; Pons R;
Acta Derm Venereol; 2023 Jun; 103():adv5758. PubMed ID: 37272364
[TBL] [Abstract][Full Text] [Related]
18. Destabilizing NF1 variants act in a dominant negative manner through neurofibromin dimerization.
Young LC; Goldstein de Salazar R; Han SW; Huang ZYS; Merk A; Drew M; Darling J; Wall V; Grisshammer R; Cheng A; Allison MR; Sale MJ; Nissley DV; Esposito D; Ognjenovic J; McCormick F
Proc Natl Acad Sci U S A; 2023 Jan; 120(5):e2208960120. PubMed ID: 36689660
[TBL] [Abstract][Full Text] [Related]
19. Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.
Sung H; Hyland PL; Pemov A; Sabourin JA; Baldwin AM; Bass S; Teshome K; Luo W; ; Widemann BC; Stewart DR; Wilson AF
Mol Genet Genomic Med; 2020 Oct; 8(10):e1400. PubMed ID: 32869517
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
