Works matching IS 10597794 AND DT 2001 AND VI 17 AND IP 2

Results: 24

Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 156, doi. 10.1002/1098-1004(200102)17:2<156::AID-HUMU18>3.0.CO;2-0
By:
- Genschel, Janine;
- Czlonkowska, Anna;
- Sommer, Grit;
- Buettner, Carsten;
- Bochow, Bettina;
- Lochs, Herbert;
- Schmidt, Hartmut H-J.
Publication type:
Article
A HEXA polymorphism (V436I) common to African-Americans and Ethiopian Jews.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 157, doi. 10.1002/1098-1004(200102)17:2<157::AID-HUMU21>3.0.CO;2-H
By:
- Peleg, L.;
- Karpati, M.;
- Baram, L.;
- Zolotkovski, O.;
- Goldman, B.
Publication type:
Article
Mutations in the X-linked RSK2 gene ( RPS6KA3) in patients with Coffin-Lowry syndrome.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 103, doi. 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N
By:
- Delaunoy, Jean-Pierre;
- Abidi, Fatima;
- Zeniou, Maria;
- Jacquot, Sylvie;
- Merienne, Karine;
- Pannetier, Solange;
- Schmitt, Michèle;
- Schwartz, Charles E.;
- Hanauer, André
Publication type:
Article
Three novel BRCA2 germline mutations (1864 delT, 6132 del4, 8208 del5) detected in breast cancer families identified in the south of France.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 155, doi. 10.1002/1098-1004(200102)17:2<155::AID-HUMU14>3.0.CO;2-F
By:
- Noguchi, Tetsuro;
- Sauvan, Richard;
- Moyal-Amsellem, Nathalie;
- Boubli, Léon;
- Eisinger, François;
- Birnbaum, Daniel;
- Sobol, Hagay
Publication type:
Article
Data mining: Efficiency of using sequence databases for polymorphism discovery.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 141, doi. 10.1002/1098-1004(200102)17:2<141::AID-HUMU6>3.0.CO;2-1
By:
- Cox, David G.;
- Boillot, Catherine;
- Canzian, Federico
Publication type:
Article
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 152, doi. 10.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-#
By:
- Allende, Luis M.;
- García-Pérez, Miguel A.;
- Moreno, Angel;
- Corell, Alfredo;
- Carasol, Miguel;
- Martínez-Canut, Pedro;
- Arnaiz-Villena, Antonio
Publication type:
Article
A novel intronic polymorphism (intron 2 +130 (CT)n) in the human homeobox gene HOXB3.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 156, doi. 10.1002/1098-1004(200102)17:2<156::AID-HUMU20>3.0.CO;2-N
By:
- Copeland-Yates, Susan A.;
- Michaelis, Ron C.
Publication type:
Article
Use of mutation spectra analysis software.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 83, doi. 10.1002/1098-1004(200102)17:2<83::AID-HUMU1>3.0.CO;2-E
By:
- Rogozin, Igor B.;
- Kondrashov, Fyodor A.;
- Glazko, Galina V.
Publication type:
Article
Three novel BRCA1 germline mutations (1104delAA, 1276delTT, 3747delGA) detected in breast/ovarian cancer families identified in the south of France.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 154, doi. 10.1002/1098-1004(200102)17:2<154::AID-HUMU13>3.0.CO;2-L
By:
- Sauvan, Richard;
- Noguchi, Tetsuro;
- Moyal-Amsellem, Nathalie;
- Serin, Daniel;
- Eisinger, François;
- Birnbaum, Daniel;
- Sobol, Hagay
Publication type:
Article
A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 158, doi. 10.1002/1098-1004(200102)17:2<158::AID-HUMU24>3.0.CO;2-5
By:
- Shi, Yi-Ru;
- Wu, Jer-Yuarn;
- Tsai, Fuu-Jen;
- Lee, Cheng-Chun;
- Tsai, Chang-Hai
Publication type:
Article
A new technique for cyclic in situ amplification and a case report about amplification of a single copy gene sequence in human metaphase chromosomes through PCR-PRINS.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 131, doi. 10.1002/1098-1004(200102)17:2<131::AID-HUMU5>3.0.CO;2-7
By:
- Harrer, Thomas;
- Schwinger, Eberhard;
- Mennicke, Kirsten
Publication type:
Article
A novel polymorphism (471C→T) in alpha-1-antitrypsin in a patient with asthma.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 155, doi. 10.1002/1098-1004(200102)17:2<155::AID-HUMU17>3.0.CO;2-6
By:
- Pillay, Visva;
- Halsall, David J.;
- Gaillard, Christine;
- Lomas, David A.;
- Mahadeva, Ravi
Publication type:
Article
A new polymorphism in the proteolipid protein ( PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 152, doi. 10.1002/1098-1004(200102)17:2<152::AID-HUMU9>3.0.CO;2-P
By:
- Hobson, Grace M.;
- Stabley, Deborah L.;
- Funanage, Vicky L.;
- Marks, Harold G.
Publication type:
Article
A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 154, doi. 10.1002/1098-1004(200102)17:2<154::AID-HUMU12>3.0.CO;2-O
By:
- Hardouin, Agnès;
- Baumann, Jean-Jacques;
- Roussel, Gilbert;
- Quillien, Véronique;
- Dugast, Catherine;
- Berthet, Pascaline
Publication type:
Article
Polymorphism (-173G>A) in promoter of human epithelial sodium channel gamma subunit gene ( SCNN1G) and association analysis in essential hypertension.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 157, doi. 10.1002/1098-1004(200102)17:2<157::AID-HUMU23>3.0.CO;2-B
By:
- Morris, Brian J.;
- Benjafield, Adam V.;
- Ishikawa, Kazuhiko;
- Iawi, Naoharu
Publication type:
Article
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 122, doi. 10.1002/1098-1004(200102)17:2<122::AID-HUMU4>3.0.CO;2-C
By:
- Acosta, A.X.;
- Silva, W.A.;
- Carvalho, T.M.;
- Gomes, M.;
- Zago, M.A.
Publication type:
Article
Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 155, doi. 10.1002/1098-1004(200102)17:2<155::AID-HUMU16>3.0.CO;2-9
By:
- Gelb, Abigail C.;
- Manligas, Glenda S.;
- Gharaybeh, Salam;
- Schimmenti, Lisa A.
Publication type:
Article
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 151, doi. 10.1002/1098-1004(200102)17:2<151::AID-HUMU8>3.0.CO;2-T
By:
- Colliton, Raymond P.;
- Bason, Lynn;
- Lu, Feng-Min;
- Piccoli, David A.;
- Krantz, Ian D.;
- Spinner, Nancy B.
Publication type:
Article
A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 154, doi. 10.1002/1098-1004(200102)17:2<154::AID-HUMU11>3.0.CO;2-R
By:
- Genschel, Janine;
- Bochow, Bettina;
- Kuepferling, Susanne;
- Ewert, Ralf;
- Hetzer, Roland;
- Lochs, Herbert;
- Schmidt, Hartmut H-J.
Publication type:
Article
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 157, doi. 10.1002/1098-1004(200102)17:2<157::AID-HUMU22>3.0.CO;2-E
By:
- Kochanski, Andrzej;
- Lofgren, Ann;
- Jedrzejowska, Hanna;
- Ryniewicz, Barbara;
- Czarny-Ratajczak, Malwina;
- Barciszewska, Anna-Maria;
- Samocko, Joanna;
- Hausmanowa-Petrusewicz, Irena;
- Jonghe, Peter De;
- Timmerman, Vincent;
- Latos-Bielenska, Anna
Publication type:
Article
No evidence for BCL10 mutation in endometrial cancers with microsatellite instability.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 117, doi. 10.1002/1098-1004(200102)17:2<117::AID-HUMU3>3.0.CO;2-D
By:
- Cohn, David E.;
- Mutch, David G.;
- Elbendary, Al;
- Rader, Janet S.;
- Herzog, Thomas J.;
- Goodfellow, Paul J.
Publication type:
Article
A novel germline in frame deletion (4128del3) of the BRCA2 gene detected in a breast/ovarian cancer family with fallopian tube and brain tumors identified in the north of France.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 155, doi. 10.1002/1098-1004(200102)17:2<155::AID-HUMU15>3.0.CO;2-C
By:
- Demange, Liliane;
- Noguchi, Tetsuro;
- Sauvan, Richard;
- Moyal-Amsellem, Nathalie;
- Birnbaum, Daniel;
- Eisinger, François;
- Sobol, Hagay
Publication type:
Article
Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 151, doi. 10.1002/1098-1004(200102)17:2<151::AID-HUMU7>3.0.CO;2-W
By:
- Guevara-Fujita, Maria;
- Fahrner, Stacey;
- Buraczynska, Kinga;
- Cook, Jason;
- Wheaton, Dianna;
- Cortes, Fanny;
- Vicencio, Cesar;
- Pena, Marcela;
- Fishman, Gerald A.;
- Mintz-Hittner, Helen;
- Birch, David;
- Hoffman, Dennis;
- Mears, Alan J.;
- Fujita, Ricardo;
- Swaroop, Anand
Publication type:
Article
Characterization of a new variant of α<sub>1</sub>-antitrypsin E<sub>Johannesburg</sub> (H15N) in association with asthma.
Published in:
Human Mutation, 2001, v. 17, n. 2, p. 156, doi. 10.1002/1098-1004(200102)17:2<156::AID-HUMU19>3.0.CO;2-Y
By:
- Mahadeva, Ravi;
- Gaillard, M-Christine;
- Pillay, Visva;
- Halkas, Andrew;
- Lomas, David A.
Publication type:
Article