These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

295 related articles for article (PubMed ID: 23812910)

  • 1. Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
    Burkitt Wright EM; Sach E; Sharif S; Quarrell O; Carroll T; Whitehouse RW; Upadhyaya M; Huson SM; Evans DG
    J Med Genet; 2013 Sep; 50(9):606-13. PubMed ID: 23812910
    [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. 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]  

  • 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. 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]  

  • 6. Genetic analyses of mosaic neurofibromatosis type 1 with giant café-au-lait macule, plexiform neurofibroma and multiple melanocytic nevi.
    Hida T; Idogawa M; Okura M; Sugita S; Sugawara T; Sasaki Y; Tokino T; Yamashita T; Uhara H
    J Dermatol; 2020 Jun; 47(6):658-662. PubMed ID: 32246533
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.
    Kaufmann D; Müller R; Bartelt B; Wolf M; Kunzi-Rapp K; Hanemann CO; Fahsold R; Hein C; Vogel W; Assum G
    Am J Hum Genet; 2001 Dec; 69(6):1395-400. PubMed ID: 11704931
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
    Denayer E; Legius E
    Acta Derm Venereol; 2020 Mar; 100(7):adv00093. PubMed ID: 32147744
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hereditary spinal neurofibromatosis: a rare form of NF1?
    Poyhonen M; Leisti EL; Kytölä S; Leisti J
    J Med Genet; 1997 Mar; 34(3):184-7. PubMed ID: 9132486
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [A case of growth hormone deficiency combined with neurofibromatosis Type 1 and its gene analysis].
    Long X; Xiong J; Mo Z; Zhang Q; Jin P
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2018 Jul; 43(7):811-815. PubMed ID: 30124220
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
    Stewart DR; Brems H; Gomes AG; Ruppert SL; Callens T; Williams J; Claes K; Bober MB; Hachen R; Kaban LB; Li H; Lin A; McDonald M; Melancon S; Ortenberg J; Radtke HB; Samson I; Saul RA; Shen J; Siqveland E; Toler TL; van Maarle M; Wallace M; Williams M; Legius E; Messiaen L
    Genet Med; 2014 Jun; 16(6):448-59. PubMed ID: 24232412
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.
    Wimmer K; Rosenbaum T; Messiaen L
    Clin Genet; 2017 Apr; 91(4):507-519. PubMed ID: 27779754
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
    Alkindy A; Chuzhanova N; Kini U; Cooper DN; Upadhyaya M
    Hum Genomics; 2012 Aug; 6(1):12. PubMed ID: 23244495
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Genetic and clinical considerations in six cases with neurofibromatosis type 1.
    Buteică E; Stoicescu I; Burada F; Stănoiu B
    Rom J Morphol Embryol; 2007; 48(3):243-8. PubMed ID: 17914490
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.
    Ece Solmaz A; Isik E; Atik T; Ozkinay F; Onay H
    Clin Neurol Neurosurg; 2021 Sep; 208():106884. PubMed ID: 34418705
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
    Castellanos E; Rosas I; Negro A; Gel B; Alibés A; Baena N; Pineda M; Pi G; Pintos G; Salvador H; Lázaro C; Blanco I; Vilageliu L; Brems H; Grinberg D; Legius E; Serra E
    Clin Genet; 2020 Feb; 97(2):264-275. PubMed ID: 31573083
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.