Results 151 to 154 of about 16,386 (154)

Neurofibromatosis‐1 gene deletions and mutations in de novo adult acute myeloid leukemia

American Journal of Hematology, 2013
Germline heterozygous alterations of the tumor‐suppressor gene neurofibromatosis‐1 (NF1) lead to neurofibromatosis type 1, a genetic disorder characterized by a higher risk to develop juvenile myelomonocytic leukemia and/or acute myeloid leukemia (AML).
Elise, Boudry-Labis, Catherine, Roche-Lestienne, Olivier, Nibourel, Nicolas, Boissel, Christine, Terre, Christine, Perot, Virginie, Eclache, Nathalie, Gachard, Isabelle, Tigaud, Ghislaine, Plessis, Wendy, Cuccuini, Sandrine, Geffroy, Céline, Villenet, Martin, Figeac, Frederic, Leprêtre, Aline, Renneville, Meyling, Cheok, Jean, Soulier, Hervé, Dombret, Claude, Preudhomme   +19 more
openaire   +2 more sources

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1

Human Genetics, 2003
Three members of a Portuguese family, who exhibited clinical evidence of neurofibromatosis type 1 (NF1), were found to possess different heritable and pathological mutations in their NF1 genes: a 1.5-Mb deletion spanning the entire NF1 gene, a truncating CGA-->TGA transition in exon 22 (R1241X), and a frameshift mutation in exon 29 (5406insT).
Meena, Upadhyaya, Elisa, Majounie, Peter, Thompson, Song, Han, Claudia, Consoli, Michael, Krawczak, Isobel, Cordeiro, David N, Cooper   +7 more
openaire   +2 more sources

A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.

Human genetics, 1993
We have screened a total of 105 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exon 28 of the NF1 gene using heteroduplex analysis and single strand conformation polymorphism analysis. One novel mutation has been identified and characterised.
M H, Shen, M, Upadhyaya
openaire   +1 more source