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Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Aromatic copolyimide membranes for high temperature gas separations: H<sub>2</sub>/CH<sub>4</sub>, H<sub>2</sub>/N<sub>2</sub>, and O<sub>2</sub>/N<sub>2</sub>.
- Published in:
- Journal of Applied Polymer Science, 1990, v. 41, n. 5/6, p. 1261, doi. 10.1002/app.1990.070410534
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- Publication type:
- Article
Cytogenetic analysis of epithelial renal-cell tumors: Relationship with a new histopathological classification.
- Published in:
- International Journal of Cancer, 1993, v. 55, n. 2, p. 223, doi. 10.1002/ijc.2910550210
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- Publication type:
- Article
Loss of heterozygosity at the short arm of chromosome 3 in renal-cell cancer correlates with the cytological tumour type.
- Published in:
- International Journal of Cancer, 1993, v. 53, n. 3, p. 353, doi. 10.1002/ijc.2910530302
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- Publication type:
- Article
Amplification and expression of different myc-family genes in a tumor specimen and 3 cell lines derived from one small-cell lung cancer patient during longitudinal follow-up.
- Published in:
- International Journal of Cancer, 1989, v. 44, n. 1, p. 75, doi. 10.1002/ijc.2910440114
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- Publication type:
- Article
Minimal volume of amniotic fluid for reliable prenatal cytogenetic diagnosis.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 2, p. 164, doi. 10.1002/pd.300
- By:
- Publication type:
- Article
A Novel Point Mutation in the Intracellular Domain of the ret Protooncogene in a Family with Medullary Thyroid Carcinoma.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Identification of a tumor marker chromosome by flow sorting, DNA amplification in vitro, and in situ hybridization of the amplified product.
- Published in:
- Genes, Chromosomes & Cancer, 1993, v. 6, n. 1, p. 10, doi. 10.1002/gcc.2870060104
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- Publication type:
- Article
Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma.
- Published in:
- Genes, Chromosomes & Cancer, 1992, v. 4, n. 3, p. 241, doi. 10.1002/gcc.2870040309
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- Publication type:
- Article
Molecular mapping of deletion sites in the short arm of chromosome 3 in human lung cancer.
- Published in:
- Genes, Chromosomes & Cancer, 1990, v. 1, n. 3, p. 240, doi. 10.1002/gcc.2870010309
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- Publication type:
- Article
Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer.
- Published in:
- Nature, 1987, v. 330, n. 6148, p. 578, doi. 10.1038/330578a0
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- Publication type:
- Article
Reduced endothelin-3 expression in sporadic Hirschsprung disease.
- Published in:
- British Journal of Surgery, 2000, v. 87, n. 5, p. 580, doi. 10.1046/j.1365-2168.2000.01401.x
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- Publication type:
- Article
Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis.
- Published in:
- Nucleic Acids Research, 1999, v. 27, n. 20, p. e29, doi. 10.1093/nar/27.20.e29
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- Publication type:
- Article
Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE.
- Published in:
- Nucleic Acids Research, 1999, v. 27, n. 15, p. e9, doi. 10.1093/nar/27.15.e9-i
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- Publication type:
- Article
Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis.
- Published in:
- Nucleic Acids Research, 1998, v. 26, n. 23, p. 5432
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- Publication type:
- Article
Partial Revertant Mosaicism of Keratin 14 in a Patient with Recessive Epidermolysis Bullosa Simplex<sup>1</sup>.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 4, p. 626, doi. 10.1046/j.1523-1747.2002.01715.x
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- Publication type:
- Article
Exempting Homologous Pseudogene Sequences from Polymerase Chain Reaction Amplification Allows Genomic Keratin 14 Hotspot Mutation Analysis.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 114, n. 4, p. 616, doi. 10.1046/j.1523-1747.2000.00928.x
- By:
- Publication type:
- Article
<em>RET</em> Mutation Screening in Familial Cutaneous Lichen Amyloidosis and in Skin Amyloidosis Associated With Multiple Endocrine Neoplasia.
- Published in:
- Journal of Investigative Dermatology, 1996, v. 107, n. 2, p. 215, doi. 10.1111/1523-1747.ep12329651
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- Publication type:
- Article
Functional analysis of lung tumor suppressor activity at 3p21.3.
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 12, p. 1077, doi. 10.1002/gcc.20367
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- Publication type:
- Article
A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal instability.
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 43, n. 2, p. 194, doi. 10.1002/gcc.20148
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- Publication type:
- Article
Inactivation of the von Hippel-Lindau ( VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: Evidence for a VHL-independent pathway in clear cell renal tumourigenesis.
- Published in:
- Genes, Chromosomes & Cancer, 1998, v. 22, n. 3, p. 200, doi. 10.1002/(SICI)1098-2264(199807)22:3<200::AID-GCC5>3.0.CO;2-#
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- Publication type:
- Article
Analysis of multiple renal cell adenomas and carcinomas suggests allelic loss at 3p21 to be a prerequisite for malignant development.
- Published in:
- Genes, Chromosomes & Cancer, 1997, v. 19, n. 4, p. 228, doi. 10.1002/(SICI)1098-2264(199708)19:4<228::AID-GCC4>3.0.CO;2-Z
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- Publication type:
- Article
Normal FHIT transcripts in renal cell cancer- and lung cancer-derived cell lines, including a cell line with a homozygous deletion in the FRA3B region.
- Published in:
- Genes, Chromosomes & Cancer, 1997, v. 19, n. 4, p. 220, doi. 10.1002/(SICI)1098-2264(199708)19:4<220::AID-GCC3>3.0.CO;2-Z
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- Publication type:
- Article
Involvement of multiple loci on chromosome 3 in renal cell cancer development.
- Published in:
- Genes, Chromosomes & Cancer, 1997, v. 19, n. 2, p. 59, doi. 10.1002/(SICI)1098-2264(199706)19:2<59::AID-GCC1>3.0.CO;2-Z
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- Publication type:
- Article
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
- Published in:
- Genes, Chromosomes & Cancer, 1997, v. 18, n. 4, p. 269, doi. 10.1002/(SICI)1098-2264(199704)18:4<269::AID-GCC4>3.0.CO;2-Z
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- Publication type:
- Article
Major role for a 3p21 region and lack of involvement of the t(3;8) breakpoint region in the development of renal cell carcinoma suggested by loss of heterozygosity analysis.
- Published in:
- Genes, Chromosomes & Cancer, 1996, v. 15, n. 1, p. 64, doi. 10.1002/(SICI)1098-2264(199601)15:1<64::AID-GCC9>3.0.CO;2-2
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- Publication type:
- Article
Defining the position of the breakpoint of the constitutional t(3;6) occurring in a family with renal cell carcinoma.
- Published in:
- Genes, Chromosomes & Cancer, 1995, v. 12, n. 3, p. 224, doi. 10.1002/gcc.2870120311
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- Publication type:
- Article
An absolute procedure to test the growth potential of medium and the influence of decreased oxygen tension in primary amniotic fluid cell cultures.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 9, p. 855, doi. 10.1002/pd.1522
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- Publication type:
- Article
Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 11, p. 1989, doi. 10.1093/hmg/8.11.1989
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- Publication type:
- Article
A novel mutation (G1249R) in exon 20 of the CFTR gene.
- Published in:
- Human Mutation, 1994, v. 4, n. 2, p. 161, doi. 10.1002/humu.1380040213
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- Publication type:
- Article
DNA Mismatch Repair Gene Mutations in 55 Kindreds with Verified Or Putative Hereditary Non-Polyposis Colorectal Cancer.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 6, p. 763, doi. 10.1093/hmg/5.6.763
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- Publication type:
- Article
Mutational Scanning of Large Genes By Extensive Pcr Multiplexing and Two-Dimensional Electrophoresis: Application to the RB1 Gene.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 6, p. 755, doi. 10.1093/hmg/5.6.755
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- Publication type:
- Article
Frequencies of Active Nucleolus Organizing Regions in Young and Old People.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 5, p. 283, doi. 10.1111/j.1399-0004.1978.tb02154.x
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- Publication type:
- Article
Rapid Identification of Chromosomes Carrying Silver-Stained Nucleolus Organizing Regions: Application to a Case of 21/21 Robertsonian Translocation.
- Published in:
- Clinical Genetics, 1978, v. 14, n. 5, p. 284, doi. 10.1111/j.1399-0004.1978.tb02155.x
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- Publication type:
- Article