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    Results: 1 to 20 of 112

    1.

    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;46(7):425-30. Epub 2009 Apr 14.PMID: 19366998 [PubMed - indexed for MEDLINE]Related articles

    2.

    SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

    Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M.

    J Med Genet. 2009 Jul;46(7):431-7. Epub 2009 May 13.PMID: 19443465 [PubMed - indexed for MEDLINE]Related articles

    3.

    Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

    Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E.

    Nat Genet. 2007 Sep;39(9):1120-6. Epub 2007 Aug 19.PMID: 17704776 [PubMed - indexed for MEDLINE]Related articles

    4.

    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):2111-2118.PMID: 19920235 [PubMed - as supplied by publisher]Related articles

    5.

    Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

    Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A.

    Am J Med Genet A. 2009 Jun;149A(6):1263-7.PMID: 19449407 [PubMed - indexed for MEDLINE]Related articles

    6.

    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;20(2):195-202.PMID: 19650418 [PubMed - indexed for MEDLINE]Related articles

    7.

    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;98(4):693-8. Epub 2008 Dec 18.PMID: 19120036 [PubMed - indexed for MEDLINE]Related articles

    8.

    [From gene to disease; neurofibromatosis type 1]

    de Goede-Bolder A, Cnossen MH, Dooijes D, van den Ouweland AM, Niermeijer MF.

    Ned Tijdschr Geneeskd. 2001 Sep 8;145(36):1736-8. Review. Dutch. PMID: 11572174 [PubMed - indexed for MEDLINE]Related articles

    9.

    An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

    Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L.

    Am J Hum Genet. 2007 Jan;80(1):140-51. Epub 2006 Dec 8.PMID: 17160901 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

    Jeong SY, Park SJ, Kim HJ.

    J Korean Med Sci. 2006 Feb;21(1):107-12.PMID: 16479075 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    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. Epub 2001 Oct 18.PMID: 11704931 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    [Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome]

    Wimmer K.

    Wien Med Wochenschr. 2005 Jun;155(11-12):273-80. German. PMID: 16035388 [PubMed - indexed for MEDLINE]Related articles

    13.

    Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

    Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas NS, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN.

    Hum Mutat. 2004 Feb;23(2):134-46.PMID: 14722917 [PubMed - indexed for MEDLINE]Related articles

    14.

    Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

    Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg-Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pfäffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C, Neumann HP; European-American Phaeochromocytoma Registry Study Group.

    J Clin Endocrinol Metab. 2007 Jul;92(7):2784-92. Epub 2007 Apr 10.PMID: 17426081 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

    Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, Volpini V, Serra E, Lázaro C, Estivill X.

    Am J Hum Genet. 1998 Apr;62(4):834-41.PMID: 9529361 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.

    Hüffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A.

    Am J Med Genet A. 2006 Dec 15;140(24):2749-56.PMID: 17103458 [PubMed - indexed for MEDLINE]Related articles

    17.

    Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.

    Faravelli F, Upadhyaya M, Osborn M, Huson SM, Hayward R, Winter R.

    J Med Genet. 1999 Dec;36(12):893-6.PMID: 10593996 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    [Genetics of type 1 neurofibromatosis]

    Garavelli L, Donadio A, Sigorini M, Grassi L, Banchini G.

    Acta Biomed Ateneo Parmense. 2000;71(3-4):89-95. Italian. PMID: 11424621 [PubMed - indexed for MEDLINE]Related articles

    19.

    Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

    Klose A, Ahmadian MR, Schuelke M, Scheffzek K, Hoffmeyer S, Gewies A, Schmitz F, Kaufmann D, Peters H, Wittinghofer A, Nürnberg P.

    Hum Mol Genet. 1998 Aug;7(8):1261-8.PMID: 9668168 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Neurofibromatosis: novel and recurrent mutations in Turkish patients.

    Terzi YK, Oguzkan S, Anlar B, Aysun S, Ayter S.

    Pediatr Neurol. 2007 Dec;37(6):421-5.PMID: 18021924 [PubMed - indexed for MEDLINE]Related articles

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