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    Results: 1 to 20 of 343

    1.

    Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

    Kehrer-Sawatzki H, Cooper DN.

    J Med Genet. 2008 Oct;45(10):622-31. Epub 2008 May 29. Review.PMID: 18511569 [PubMed - indexed for MEDLINE]Related articles

    2.

    [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

    3.

    Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion.

    Ainsworth PJ, Chakraborty PK, Weksberg R.

    Hum Mutat. 1997;9(5):452-7.PMID: 9143926 [PubMed - indexed for MEDLINE]Related articles

    4.

    Mutations in von Recklinghausen neurofibromatosis: an hypothesis.

    Zlotogora J.

    Am J Med Genet. 1993 Apr 15;46(2):182-4. Review.PMID: 8484407 [PubMed - indexed for MEDLINE]Related articles

    5.

    High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

    Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF.

    Am J Hum Genet. 2004 Sep;75(3):410-23. Epub 2004 Jul 15.PMID: 15257518 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

    Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, Weiss L, Schwartz C, Saul RA, Wallace MR.

    J Med Genet. 1998 Jun;35(6):468-71.PMID: 9643287 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    The different forms of neurofibromatosis.

    Ruggieri M.

    Childs Nerv Syst. 1999 Jul;15(6-7):295-308. Review.PMID: 10461778 [PubMed - indexed for MEDLINE]Related articles

    8.

    Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

    Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S, Speleman F, Legius E, Messiaen L.

    Am J Hum Genet. 2007 Aug;81(2):243-51. Epub 2007 Jun 20.PMID: 17668375 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1.

    Consoli C, Moss C, Green S, Balderson D, Cooper DN, Upadhyaya M.

    J Invest Dermatol. 2005 Sep;125(3):463-6.PMID: 16117786 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Lessons from the skin--cutaneous features of familial cancer.

    Winship IM, Dudding TE.

    Lancet Oncol. 2008 May;9(5):462-72. Review.PMID: 18452857 [PubMed - indexed for MEDLINE]Related articles

    11.

    Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.

    Lázaro C, Ravella A, Gaona A, Volpini V, Estivill X.

    N Engl J Med. 1994 Nov 24;331(21):1403-7.PMID: 7969279 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients.

    Serra E, Pros E, García C, López E, Gili ML, Gómez C, Ravella A, Capellá G, Blanco I, Lázaro C.

    Genes Chromosomes Cancer. 2007 Sep;46(9):820-7.PMID: 17563086 [PubMed - indexed for MEDLINE]Related articles

    13.

    Somatic mosaicism in a patient with neurofibromatosis type 1.

    Colman SD, Rasmussen SA, Ho VT, Abernathy CR, Wallace MR.

    Am J Hum Genet. 1996 Mar;58(3):484-90.PMID: 8644707 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

    Ars E, Serra E, García J, Kruyer H, Gaona A, Lázaro C, Estivill X.

    Hum Mol Genet. 2000 Jan 22;9(2):237-47. Erratum in: Hum Mol Genet 2000 Mar 1;9(4):659. PMID: 10607834 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

    Krkljus S, Abernathy CR, Johnson JS, Williams CA, Driscoll DJ, Zori R, Stalker HJ, Rasmussen SA, Collins FS, Kousseff BG, Baumbach L, Wallace MR.

    Hum Mutat. 1998;11(5):411.PMID: 10336779 [PubMed - indexed for MEDLINE]Related articles

    16.

    [Tumor suppressor gen mutation in the germ line: its significance in familial and sporadic tumors]

    Müller H, Scott RJ.

    Schweiz Med Wochenschr. 1995 Jul 29;125(30):1445-54. Review. German. PMID: 7676234 [PubMed - indexed for MEDLINE]Related articles

    17.

    Familial neurogenic tumor syndromes.

    Kimmelman A, Liang BC.

    Hematol Oncol Clin North Am. 2001 Dec;15(6):1073-84. Review.PMID: 11770299 [PubMed - indexed for MEDLINE]Related articles

    18.

    Tumour predisposition in mice heterozygous for a targeted mutation in Nf1.

    Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA.

    Nat Genet. 1994 Jul;7(3):353-61.PMID: 7920653 [PubMed - indexed for MEDLINE]Related articles

    19.

    Familial pheochromocytomas and paragangliomas: stories from the sign-out room.

    Perren A, Komminoth P.

    Endocr Pathol. 2006 Winter;17(4):337-44.PMID: 17525482 [PubMed - indexed for MEDLINE]Related articles

    20.

    The hamartomatous polyposis syndromes: a clinical and molecular review.

    Schreibman IR, Baker M, Amos C, McGarrity TJ.

    Am J Gastroenterol. 2005 Feb;100(2):476-90. Review.PMID: 15667510 [PubMed - indexed for MEDLINE]Related articles

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