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

Results: 24

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

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

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 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

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 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

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

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

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

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 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

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

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

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

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

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

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