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Journal Abstract Search

335 related items for PubMed ID: 31370276

  • 21. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
    Calì F, Chiavetta V, Ruggeri G, Piccione M, Selicorni A, Palazzo D, Bonsignore M, Cereda A, Elia M, Failla P, Figura MG, Fiumara A, Maitz S, Luana Mandarà GM, Mattina T, Ragalmuto A, Romano C, Ruggieri M, Salluzzo R, Saporoso A, Schepis C, Sorge G, Spanò M, Tortorella G, Romano V.
    Eur J Med Genet; 2017 Feb; 60(2):93-99. PubMed ID: 27838393
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  • 22. NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.
    Muram-Zborovski TM, Vaughn CP, Viskochil DH, Hanson H, Mao R, Stevenson DA.
    Am J Med Genet A; 2010 Aug; 152A(8):1973-8. PubMed ID: 20602485
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  • 23. 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
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  • 24. Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.
    Kokkinou E, Roka K, Alexopoulos A, Tsina E, Nikas I, Krallis P, Thanopoulou I, Nasi L, Makrygianni E, Tsoutsou E, Kosma K, Tsipi M, Tzetis M, Frysira H, Kattamis A, Pons R.
    Postgrad Med; 2019 Sep; 131(7):445-452. PubMed ID: 31443616
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  • 26. 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; 42(7):703-5. PubMed ID: 25981987
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  • 28. A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.
    Tong HX, Li M, Zhang Y, Zhu J, Lu WQ.
    Genet Mol Res; 2012 Aug 29; 11(3):2972-8. PubMed ID: 22869071
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  • 29. Updated Approach to Patients with Multiple Café au Lait Macules.
    Albaghdadi M, Thibodeau ML, Lara-Corrales I.
    Dermatol Clin; 2022 Jan 29; 40(1):9-23. PubMed ID: 34799039
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  • 30. 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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  • 32. 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 13; 46(7):425-30. PubMed ID: 19366998
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  • 33. Deletion of the whole NF1 gene in a three-generation family with neurofibromatosis type 1.
    Du Q, Chen H, Zhou H.
    Neurol Sci; 2022 Feb 13; 43(2):1295-1301. PubMed ID: 34089417
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  • 34. A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.
    Stowe IB, Mercado EL, Stowe TR, Bell EL, Oses-Prieto JA, Hernández H, Burlingame AL, McCormick F.
    Genes Dev; 2012 Jul 01; 26(13):1421-6. PubMed ID: 22751498
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  • 39. Coincidental Expression of Classic Hodgkin Lymphoma and Neurofibromatosis Type I and Literature Review.
    Cabrera TB, Wang W, Yedururi S, Slopis JM, Steiner RE, Rytting ME, Cuglievan B.
    J Pediatr Hematol Oncol; 2021 May 01; 43(4):e535-e538. PubMed ID: 32366782
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  • 40. 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 01; 50(9):606-13. PubMed ID: 23812910
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