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Journal Abstract Search

431 related items for PubMed ID: 22106164

  • 1. [Unusual clinical manifestations of type 1 neurofibromatosis].
    Komlósi K, Polgár N, Hadzsiev K, Ottóffy G, Illés T, Dóczi T, Melegh B.
    Orv Hetil; 2011 Dec 04; 152(49):1965-70. PubMed ID: 22106164
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  • 2. [Molecular genetic diagnosis of neurofibromatosis type I].
    Polgár N, Komlósi K, Hadzsiev K, Illés T, Melegh B.
    Orv Hetil; 2011 Mar 13; 152(11):415-9. PubMed ID: 21362601
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  • 5. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.
    Terzi YK, Oguzkan-Balci S, Anlar B, Aysun S, Guran S, Ayter S.
    Genet Couns; 2009 Mar 13; 20(2):195-202. PubMed ID: 19650418
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  • 6. 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 Mar 13; 57(11-12):639-42. PubMed ID: 25234363
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  • 7. 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 13; 47(6):658-662. PubMed ID: 32246533
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  • 8. Genetic and clinical considerations in six cases with neurofibromatosis type 1.
    Buteică E, Stoicescu I, Burada F, Stănoiu B.
    Rom J Morphol Embryol; 2007 Jun 13; 48(3):243-8. PubMed ID: 17914490
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  • 9. 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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  • 11. 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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  • 13. Neurofibromatosis type I: genetics and clinical manifestations.
    Savar A, Cestari DM.
    Semin Ophthalmol; 2008 Aug 13; 23(1):45-51. PubMed ID: 18214791
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  • 15. Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?
    Yang CC, Happle R, Chao SC, Yu-Yun Lee J, Chen W.
    J Am Acad Dermatol; 2008 Mar 13; 58(3):493-7. PubMed ID: 18280349
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  • 16. [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 28; 43(7):811-815. PubMed ID: 30124220
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  • 17. 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 28; 46(7):425-30. PubMed ID: 19366998
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  • 18. Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
    Abramowicz A, Gos M.
    Dev Period Med; 2014 Jul 28; 18(3):297-306. PubMed ID: 25182393
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  • 19. 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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  • 20. 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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