Works matching IS 10597794 AND DT 2003 AND VI 21 AND IP 5
Results: 38
IVS106T>G, an ancient ATM germline mutation linked with breast cancer (Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 521, doi. 10.1002/humu.10204
- By:
- Publication type:
- Article
Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening (Communicated by Mireille Claustres).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 455, doi. 10.1002/humu.10169
- By:
- Publication type:
- Article
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 geneCommunicated by Mark H. PaalmanOnline Citation:Human Mutation, Mutation in Brief #609 (2002) onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/609.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9138
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- Publication type:
- Article
Two common founder mutations of the fanconi anemia group g gene FANCG/XRCC9 in the Japanese populationCommunicated by Christopher G. MathewOnline Citation: Human Mutation, Mutation in Brief #613 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/613.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 555, doi. 10.1002/humu.9142
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- Publication type:
- Article
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasiaCommunicated by Mireille Claustres.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 482, doi. 10.1002/humu.10203
- By:
- Publication type:
- Article
Two common founder mutations of the fanconi anemia group g gene FANCG/XRCC9 in the Japanese population (Communicated by Christopher G. Mathew) Online Citation: Human Mutation, Mutation in Brief #613 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/613.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 555, doi. 10.1002/humu.9142
- By:
- Publication type:
- Article
Molecular variation of human HSP90&agr; and HSP90β genes in Caucasians (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #612 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/612.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 554, doi. 10.1002/humu.9141
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- Publication type:
- Article
ATM gene alterations in childhood acute lymphoblastic leukemias (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #611 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/611.pdf).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 554, doi. 10.1002/humu.9140
- By:
- Publication type:
- Article
BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #610 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/610.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9139
- By:
- Publication type:
- Article
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #609 (2002) online http://www.interscience.wiley.com/humanmutation/pdf/mutation/609.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9138
- By:
- Publication type:
- Article
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative mating (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #608 (2002) online http://www.interscience.wiley.com/humanmutation/pdf/mutation/608.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 552, doi. 10.1002/humu.9137
- By:
- Publication type:
- Article
A Novel mutation L619F in the cardiac Na<sup>+</sup> channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #607(2002) online http://www.interscience.wiley.com/humanmutation/pdf/mutation/607.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 552, doi. 10.1002/humu.9136
- By:
- Publication type:
- Article
Germline TP53 Mutations and Li-Fraumeni Syndrome.
- Published in:
- 2003
- By:
- Publication type:
- Erratum
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis (Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 502, doi. 10.1002/humu.10207
- By:
- Publication type:
- Article
Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer (Communicated by Albert de la Chapelle).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 542
- By:
- Publication type:
- Article
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia (Communicated by Mireille Claustres).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 482, doi. 10.1002/humu.10203
- By:
- Publication type:
- Article
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency (Communicated by Michel Goossens).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 493, doi. 10.1002/humu.10201
- By:
- Publication type:
- Article
RettBASE: The IRSA MECP2 variation databasea new mutation database in evolution (Communicated by Jaime Cuticchia).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 466, doi. 10.1002/humu.10194
- By:
- Publication type:
- Article
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation (Communicated by Jan P. Kraus).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 509, doi. 10.1002/humu.10193
- By:
- Publication type:
- Article
Detection of hotspot mutations and polymorphisms using an enhanced PCR-RFLP approach (Communicated by Graham Taylor).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 535, doi. 10.1002/humu.10184
- By:
- Publication type:
- Article
Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome (Communicated by Sergio Ottolenghi).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 529, doi. 10.1002/humu.10183
- By:
- Publication type:
- Article
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype (Communicated by Jacques S. Beckmann).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 473, doi. 10.1002/humu.10170
- By:
- Publication type:
- Article
BRCA1 and BRCA2 mutation analysis in breast‐ovarian cancer families from northeastern PolandCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #610 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/610.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9139
- By:
- Publication type:
- Article
Molecular variation of human HSP90α and HSP90β genes in CaucasiansCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #612 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/612.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 554, doi. 10.1002/humu.9141
- By:
- Publication type:
- Article
ATM gene alterations in childhood acute lymphoblastic leukemiasCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #611 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/611.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 554, doi. 10.1002/humu.9140
- By:
- Publication type:
- Article
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative matingCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #608 (2002) onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/608.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 552, doi. 10.1002/humu.9137
- By:
- Publication type:
- Article
A Novel mutation L619F in the cardiac Na+ channel SCN5A associated with long‐QT syndrome (LQT3): a role for the I‐II linker in inactivation gatingCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #607(2002) onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/607.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 552, doi. 10.1002/humu.9136
- By:
- Publication type:
- Article
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosisCommunicated by Mark H. Paalman.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 502, doi. 10.1002/humu.10207
- By:
- Publication type:
- Article
IVS10–6T>G, an ancient ATM germline mutation linked with breast cancerCommunicated by Mark H. Paalman.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 521, doi. 10.1002/humu.10204
- By:
- Publication type:
- Article
Designing and implementing quality control for multi‐center screening of mutations in the ATM gene among women with breast cancerCommunicated by Albert de la Chapelle.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 542
- By:
- Publication type:
- Article
Germline TP53 Mutations and Li‐Fraumeni Syndrome.
- Published in:
- 2003
- By:
- Publication type:
- Erratum
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiencyCommunicated by Michel Goossens.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 493, doi. 10.1002/humu.10201
- By:
- Publication type:
- Article
RettBASE: The IRSA MECP2 variation database—a new mutation database in evolutionCommunicated by Jaime Cuticchia.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 466, doi. 10.1002/humu.10194
- By:
- Publication type:
- Article
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD‐responsive mutationCommunicated by Jan P. Kraus.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 509, doi. 10.1002/humu.10193
- By:
- Publication type:
- Article
Detection of hotspot mutations and polymorphisms using an enhanced PCR‐RFLP approachCommunicated by Graham Taylor.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 535, doi. 10.1002/humu.10184
- By:
- Publication type:
- Article
Functional consequences of an LMNA mutation associated with a new cardiac and non‐cardiac phenotypeCommunicated by Jacques S. Beckmann.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 473
- By:
- Publication type:
- Article
Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndromeCommunicated by Sergio Ottolenghi.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 529, doi. 10.1002/humu.10183
- By:
- Publication type:
- Article
Capillary electrophoresis‐based single strand DNA conformation analysis in high‐throughput mutation screeningCommunicated by Mireille Claustres.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 455, doi. 10.1002/humu.10169
- By:
- Publication type:
- Article