BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 18055911)

  • 41. Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
    Pacot L; Ye M; Nectoux J; Laurendeau I; Briand-Suleau A; Coustier A; Maillard T; Barbance C; Orhant L; Vaucouleur N; Blanché H; Parfait B; Wolkenstein P; Vidaud M; ; Vidaud D; Pasmant E
    J Mol Diagn; 2024 Feb; 26(2):150-157. PubMed ID: 38008284
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.
    Upadhyaya M; Maynard J; Osborn M; Huson SM; Ponder M; Ponder BA; Harper PS
    J Med Genet; 1995 Sep; 32(9):706-10. PubMed ID: 8544190
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia.
    Boudry-Labis E; Roche-Lestienne C; Nibourel O; Boissel N; Terre C; Perot C; Eclache V; Gachard N; Tigaud I; Plessis G; Cuccuini W; Geffroy S; Villenet C; Figeac M; Leprêtre F; Renneville A; Cheok M; Soulier J; Dombret H; Preudhomme C;
    Am J Hematol; 2013 Apr; 88(4):306-11. PubMed ID: 23460398
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
    Spencer E; Davis J; Mikhail F; Fu C; Vijzelaar R; Zackai EH; Feret H; Meyn MS; Shugar A; Bellus G; Kocsis K; Kivirikko S; Pöyhönen M; Messiaen L
    Am J Med Genet A; 2011 Jun; 155A(6):1352-9. PubMed ID: 21548021
    [TBL] [Abstract][Full Text] [Related]  

  • 45. NF1 mutation analysis using a combined heteroduplex/SSCP approach.
    Abernathy CR; Rasmussen SA; Stalker HJ; Zori R; Driscoll DJ; Williams CA; Kousseff BG; Wallace MR
    Hum Mutat; 1997; 9(6):548-54. PubMed ID: 9195229
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
    Maynard J; Krawczak M; Upadhyaya M
    Hum Genet; 1997 May; 99(5):674-6. PubMed ID: 9150739
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Do NF1 gene deletions result in a characteristic phenotype?
    Tonsgard JH; Yelavarthi KK; Cushner S; Short MP; Lindgren V
    Am J Med Genet; 1997 Nov; 73(1):80-6. PubMed ID: 9375928
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.
    Meuller J; Kanter-Smoler G; Nygren AO; Errami A; Grönberg H; Holmberg E; Björk J; Wahlström J; Nordling M
    Genet Test; 2004; 8(3):248-56. PubMed ID: 15727247
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction.
    Vaughn CP; Lyon E; Samowitz WS
    J Mol Diagn; 2008 Jul; 10(4):355-60. PubMed ID: 18556772
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.
    Mei D; Parrini E; Pasqualetti M; Tortorella G; Franzoni E; Giussani U; Marini C; Migliarini S; Guerrini R
    Neurology; 2007 Feb; 68(6):446-50. PubMed ID: 17283321
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments.
    Castellsagué E; González S; Nadal M; Campos O; Guinó E; Urioste M; Blanco I; Frebourg T; Capellá G
    Clin Chem; 2008 Jul; 54(7):1132-40. PubMed ID: 18487285
    [TBL] [Abstract][Full Text] [Related]  

  • 52. NF1 deletions in S-100 protein-positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors.
    Perry A; Roth KA; Banerjee R; Fuller CE; Gutmann DH
    Am J Pathol; 2001 Jul; 159(1):57-61. PubMed ID: 11438454
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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; 9(12):e1631. PubMed ID: 34080803
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
    Messiaen LM; Callens T; Mortier G; Beysen D; Vandenbroucke I; Van Roy N; Speleman F; Paepe AD
    Hum Mutat; 2000; 15(6):541-55. PubMed ID: 10862084
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction.
    Diebold R; Bartelt-Kirbach B; Evans DG; Kaufmann D; Hanemann CO
    J Mol Diagn; 2005 Feb; 7(1):97-104. PubMed ID: 15681480
    [TBL] [Abstract][Full Text] [Related]  

  • 56. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
    Parri V; Katzaki E; Uliana V; Scionti F; Tita R; Artuso R; Longo I; Boschloo R; Vijzelaar R; Selicorni A; Brancati F; Dallapiccola B; Zelante L; Hamel CP; Sarda P; Lalani SR; Grasso R; Buoni S; Hayek J; Servais L; de Vries BB; Georgoudi N; Nakou S; Petersen MB; Mari F; Renieri A; Ariani F
    Eur J Hum Genet; 2010 Oct; 18(10):1133-40. PubMed ID: 20461111
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Probe-based quantitative PCR assay for detecting constitutional and somatic deletions in the NF1 gene: application to genetic testing and tumor analysis.
    Terribas E; Garcia-Linares C; Lázaro C; Serra E
    Clin Chem; 2013 Jun; 59(6):928-37. PubMed ID: 23386700
    [TBL] [Abstract][Full Text] [Related]  

  • 58. [Clinical application of multiplex ligation-dependent probe amplification for the detection exonic copy number alterations in the Dystrophin gene].
    Long F; Sun W; Ji X; Li XH; Liu XQ; Jiang WT; Tao J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):699-704. PubMed ID: 22161109
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Deletion of the entire NF1 gene causing distinct manifestations in a family.
    Wu BL; Schneider GH; Korf BR
    Am J Med Genet; 1997 Mar; 69(1):98-101. PubMed ID: 9066892
    [TBL] [Abstract][Full Text] [Related]  

  • 60. The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization.
    Leppig KA; Viskochil D; Neil S; Rubenstein A; Johnson VP; Zhu XL; Brothman AR; Stephens K
    Cytogenet Cell Genet; 1996; 72(1):95-8. PubMed ID: 8565646
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.