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Journal Abstract Search

1190 related items for PubMed ID: 19920235

  • 1. 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 18; 302(19):2111-8. PubMed ID: 19920235
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  • 2. 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 18; 46(7):425-30. PubMed ID: 19366998
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  • 3. 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, Northern UK NF1 Research Network, Huson SM.
    EBioMedicine; 2016 May 18; 7():212-20. PubMed ID: 27322474
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  • 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 18; 9(12):e1631. PubMed ID: 34080803
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  • 12. 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 04; 44(1):45. PubMed ID: 29618358
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  • 14. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
    Nyström AM, Ekvall S, Strömberg B, Holmström G, Thuresson AC, Annerén G, Bondeson ML.
    Acta Paediatr; 2009 Apr 04; 98(4):693-8. PubMed ID: 19120036
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  • 15. 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 13; 6(1):12. PubMed ID: 23244495
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  • 16. Family with Legius syndrome (neurofibromatosis type 1-like syndrome).
    Sakai N, Maeda T, Kawakami H, Uchiyama M, Harada K, Tsuboi R, Mitsuhashi Y.
    J Dermatol; 2015 Jul 13; 42(7):703-5. PubMed ID: 25981987
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  • 17. 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 13; 8(24):39695-39702. PubMed ID: 27980226
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  • 18. 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 Jun 13; 57(11-12):639-42. PubMed ID: 25234363
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  • 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 13; 208():106884. PubMed ID: 34418705
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  • 20. 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 13; 76(6):1077-1083.e3. PubMed ID: 28318682
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