Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies … - Full text - MIT Libraries
H Kehrer-Sawatzki, L Messiaen - Hum Genet, 2003 - springerlink.com
... HGNC). Hum Genet 109:678–680 Riva P, Gervasini C, Larizza L (2002) Genomic evidence
versus characterisation of a single (17;22) translocation on NF1 gene ...
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Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type - Full text - MIT Libraries
Q Wang, G Montmain, E Ruano, M Upadhyaya, S Dudley … - Hum Genet, 2003 - springerlink.com
... Sex differences in mu- tational rate and mutational mechanism in the NF1 gene in ...
Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). ...
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Genetic and clinical mosaicism in a patient with neurofibromatosis type 1 - Full text - MIT Libraries
I Vandenbroucke, R van Doorn, T Callens, JM Cobben … - Human Genetics, 2004 - springerlink.com
... F, De Paepe A (2000) Exhaustive muta- tion analysis of the NF1 gene allows ... E, Wright
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Tandem duplication of the NF 1 gene detected by high-resolution FISH in the 17 q 11. 2 region - Full text - MIT Libraries
C Gervasini, A Bentivegna, M Venturin, L Corrado, … - Human Genetics, 2002 - springerlink.com
... E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). ... of
PCR- based polymorphisms and linkage-disequilibrium analysis at the NF1 locus ...
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Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF 1 … - Full text - MIT Libraries
C Gervasini, F Orzan, A Bentivegna, P Colapietro, … - Human Genetics, 2004 - springerlink.com
... homologous recombination in atypical NF1 microdeletions ... FISH mapping of NF1 deletions
by 17q11.2 PAC/ BAC contig and REP/non-REP deletion classification ...
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Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13 - Full text - MIT Libraries
JM Maris, MJ Weiss, Y Mosse, G Hii, C Guo, PS … - Cancer Res, 2002 - intl-cancerres.aacrjournals.org
... Kevin Shannon and Lucy Side for performing NF1 mutation analysis and Drs ... 3 Human
gene Nomenclature Database (HGNC) http://www.gene.ucl.ac.uk/nomenclature/ (for ...
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DNM 1 DN: a new class of paralogous genomic segments(duplicons) with highly conserved copies on … - Full text - MIT Libraries
E Makrinou, M Fox, J Wolfe, J Cameron, K Taylor, … - Annals of Human Genetics, 2004 - blackwell-synergy.com
... sequences, designated by the HUGO Gene Nomenclature Committee (HGNC) DNM1DN (DNM1 ...
1995 Identification of neurofibromatosis 1 (NF1) homologous loci by direct ...
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Absence of PTPN 11 mutations in 28 cases of cardiofaciocutaneous(CFC) syndrome - Full text - MIT Libraries
A Ion, M Tartaglia, X Song, K Kalidas, I van der … - Human Genetics, 2002 - springerlink.com
... (NF1) and therefore does not fall into the category of NF-NS ... Lovering R, Bruford
E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). ...
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Genetics Home Reference;
JA Mitchell, RA Logan - lhncbc.nlm.nih.gov
... mining information from existing research, clinical, and consumer databases such
as Entrez Gene [2], HUGO Gene Nomenclature Committee (HGNC) [18], MedlinePlus ...
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An Alu-mediated rearrangement as cause of exon skipping in Hunter disease - Full text - MIT Libraries
V Ricci, S Regis, M Di Duca, M Filocamo - Hum. Genet, 2003 - springerlink.com
... (17q13.3) NF1 Neurofibromatosis Ya5 ... 64:446–461 Povey S, Lovering R, Bruford E, Wright
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PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide … - Full text - MIT Libraries
E Mateu, A P& x 000 E 9 rez-Lezaun, R Mart& x 000 … - Human Genetics, 2002 - springerlink.com
Page 1. Abstract Haplotype diversity in a genomic region of 70 kb in 1q21
between genes PKLR and GBA was char- acterized by typing ...
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Nonsense-mediated RNA decay in the TSC 1 gene suggests a useful tool pre- and post-positional … - Full text - MIT Libraries
D Jeganathan, M Fox, J Young, J Yates, J Osborne, … - Human Genetics, 2002 - springerlink.com
... Other workers have also observed vari- ation in the quantification of levels of
transcripts in the same individual, eg in the NF1 gene (Cowley et al. ...
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[BOOK] Genomic and expression analysis of the congenital chloride diarrhea gene
S Haila - 2001 - ethesis.helsinki.fi
... DTDST diastrophic dysplasia sulfate transporter ECM enzymatic cleavage mismatch
EST expressed sequence tag G guanine HCO 3 - bicarbonate anion HGNC Human Gene ...
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[CITATION] Human RAS Superfamily Proteins and Related GTPases - Full text - MIT Libraries
J Colicelli - proteins
... Other mechanisms lead- ing to RAS overactivation in tumor cells include the deletion
of genes encoding negative regulators (for example NF1, a GAP for RAS, in ...
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