Works matching IS 10597794 AND DT 2000 AND VI 15 AND IP 1

Results: 41

Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 120, doi. 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU32>3.0.CO;2-B

By:

Bradbury, Rachel;
Fagan, Elizabeth;
Payne, Stewart J.

Publication type:

Article

Use of molecular variation in the NCBI dbSNP database.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 68, doi. 10.1002/(SICI)1098-1004(200001)15:1<68::AID-HUMU14>3.0.CO;2-6

By:

Sherry, Stephen T.;
Ward, Minghong;
Sirotkin, Karl

Publication type:

Article

Coping with change: Intellectual property rights, new legislation, and the Human Mutation Database Initiative.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 22, doi. 10.1002/(SICI)1098-1004(200001)15:1<22::AID-HUMU7>3.0.CO;2-Q

By:

Maurer, Stephen M.

Publication type:

Article

Characterization of three new VNTR alleles in the promoter region of the TPMT gene.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 121, doi. 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU36>3.0.CO;2-X

By:

Alves, Sandra;
Ferreira, Fátima;
Prata, Maria João;
Amorim, António

Publication type:

Article

PAHdb: A locus-specific knowledgebase.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 99, doi. 10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P

By:

Scriver, Charles R.;
Waters, Paula J.;
Sarkissian, Christineh;
Ryan, Shannon;
Prevost, Lynne;
Côté, David;
Novak, Jaroslav;
Teebi, Saeed;
Nowacki, Piotr M.

Publication type:

Article

MEFV mutations in Turkish patients suffering from familial Mediterranean fever.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 118, doi. 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU29>3.0.CO;2-5

By:

Akar, Nejat;
Misiroglu, Müge;
Yalcinkaya, Fatos;
Akar, Ece;
Cakar, Nilgün;
Tümer, Necmiye;
Akcakus, Mustafa;
Tastan, Hakki;
Matzner, Yaacov

Publication type:

Article

Progress of the HUGO Mutation Database Initiative: A brief introduction to the Human Mutation MDI Special Issue.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 4, doi. 10.1002/(SICI)1098-1004(200001)15:1<4::AID-HUMU3>3.0.CO;2-T

By:

Cotton, Richard G.H.

Publication type:

Article

Nine independent F9 mutations in the Mexican hemophilia B population: Nonrandom recurrences of point mutation events in the human germline.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 116, doi. 10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU25>3.0.CO;2-N

By:

Jaloma-Cruz, Ana Rebeca;
Scaringe, William A.;
Drost, Joni B.;
Roberts, Stacy;
Li, Xuemin;
Barros-Núñez, Patricio;
Figuera, Luis E.;
Rivas, Fernando;
Cantú, José María;
Sommer, Steve S.

Publication type:

Article

Somatic mosaicism in von Hippel-Lindau disease.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 114, doi. 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7

By:

Murgia, Alessandra;
Martella, Maddalena;
Vinanzi, Cinzia;
Polli, Roberta;
Perilongo, Giorgio;
Opocher, Giuseppe

Publication type:

Article

A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 120, doi. 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU31>3.0.CO;2-E

By:

Hartikainen, Jaana M.;
Pirskanen, Mia M.;
Arffman, Airi H.;
Ristonmaa, Ulla K.;
Mannermaa, Arto J.

Publication type:

Article

A novel polymorphism (g1344G>C ) in exon 2 of the CD14 gene.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 122, doi. 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU39>3.0.CO;2-L

By:

Hayden, Catherine M.;
Goldblatt, Jack;
LeSouef, Peter N.

Publication type:

Article

Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 116, doi. 10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU24>3.0.CO;2-Q

By:

Isidro, G.;
Veiga, I.;
Matos, P.;
Almeida, S.;
Bizarro, S.;
Marshall, B.;
Baptista, M.;
Leite, J.;
Regateiro, F.;
Soares, J.;
Castedo, S.;
Boavida, M.G.

Publication type:

Article

Two RFLPS ( AciI; c954C/T and FokI; c1023 FokIT/C) within the coding region of the gene for human Fe65L2, a protein which interacts with Alzheimer beta-amyloid precursor protein.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 121, doi. 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU35>3.0.CO;2-#

By:

Tanahashi, Hiroshi;
Tabira, Takeshi

Publication type:

Article

Eye disorder database 'KMeyeDB'.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 95, doi. 10.1002/(SICI)1098-1004(200001)15:1<95::AID-HUMU17>3.0.CO;2-3

By:

Minoshima, S.;
Mitsuyama, S.;
Ohno, S.;
Kawamura, T.;
Shimizu, N.

Publication type:

Article

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 118, doi. 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8

By:

Mayatepek, E.;
Nezu, J.;
Tamai, I.;
Oku, A.;
Katsura, M.;
Shimane, M.;
Tsuji, A.

Publication type:

Article

Future vision of the GDB Human Genome Database.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 62, doi. 10.1002/(SICI)1098-1004(200001)15:1<62::AID-HUMU13>3.0.CO;2-R

By:

Cuticchia, A. Jamie

Publication type:

Article

Overview: Progress toward a new millennium of medical genetics.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 2, doi. 10.1002/(SICI)1098-1004(200001)15:1<2::AID-HUMU2>3.0.CO;2-Y

By:

Kazazian, Jr., Haig H.

Publication type:

Article

Quality control in the discovery, reporting, and recording of genomic variation.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 16, doi. 10.1002/(SICI)1098-1004(200001)15:1<16::AID-HUMU6>3.0.CO;2-S

By:

Cotton, Richard G.H.;
Horaitis, Ourania

Publication type:

Article

The m2 and m4 polymorphisms in CYP1A1 by NcoI digest-Revision of detection method.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 120, doi. 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU30>3.0.CO;2-H

By:

Israeli, David;
Patael, Yael;
Friedman, Tal;
Friedman, Eitan

Publication type:

Article

A new germline mutation, R600Q, within the coding region of RET proto-oncogene: A rare polymorphism or a MEN 2 causing mutation?

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 122, doi. 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU41>3.0.CO;2-7

By:

Sáez, M.E.;
Ruiz, A.;
Cebrián, A.;
Morales, F.;
Robledo, M.;
Antiñolo, G.;
Borrego, S.

Publication type:

Article

Online Mendelian Inheritance In Man (OMIM).

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 57, doi. 10.1002/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G

By:

Hamosh, Ada;
Scott, Alan F.;
Amberger, Joanna;
Valle, David;
McKusick, Victor A.

Publication type:

Article

Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 115, doi. 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU23>3.0.CO;2-W

By:

Seydewitz, Hans H.;
Matern, Dietrich

Publication type:

Article

A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 121, doi. 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU34>3.0.CO;2-2

By:

Mittre, H.;
Duhamel, J.F.;
Abeguile, G.;
Lemaire, M.;
Leymarie, P.

Publication type:

Article

UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 86, doi. 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4

By:

Béroud, Christophe;
Collod-Béroud, Gwenaëlle;
Boileau, Catherine;
Soussi, Thierry;
Junien, Claudine

Publication type:

Article

Mutations of the factor VIII gene in Thai hemophilia A patients.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 117, doi. 10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU27>3.0.CO;2-E

By:

Akkarapatumwong, V.;
Oranwiroon, S.;
Pung-amritt, P.;
Treesucon, A.;
Thanootarakul, P.;
Veerakul, G.;
Mahasandana, C.;
Panyim, S.;
Yenchitsomanus, P.

Publication type:

Article

Novel TIGR sequence alteration Val53Ala.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 122, doi. 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU38>3.0.CO;2-O

By:

Pang, C.P.;
Leung, Y.F.;
Chua, John K.H.;
Baum, Larry;
Fan, Dorothy S.P.;
Lam, Dennis S.C.

Publication type:

Article

Acknowledgments.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(200001)15:1<1::AID-HUMU1>3.0.CO;2-1

By:

Paalman, Mark H.

Publication type:

Article

Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 13, doi. 10.1002/(SICI)1098-1004(200001)15:1<13::AID-HUMU5>3.0.CO;2-Y

By:

Scriver, Charles R.;
Nowacki, Piotr M.;
Lehväslaiho, Heikki

Publication type:

Article

Central mutation databases-A review.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 36, doi. 10.1002/(SICI)1098-1004(200001)15:1<36::AID-HUMU9>3.0.CO;2-D

By:

Porter, Christopher J.;
Talbot, Jr., C. Conover;
Cuticchia, A. Jamie

Publication type:

Article

Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 122, doi. 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO;2-A

By:

Gencik, Martin;
Gencik, Alexandra;
Mortier, Wilhelm;
Epplen, Jörg T.

Publication type:

Article

Sequence variation database project at the European Bioinformatics Institute.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 52, doi. 10.1002/(SICI)1098-1004(200001)15:1<52::AID-HUMU11>3.0.CO;2-Y

By:

Lehväslaiho, Heikki;
Stupka, Elia;
Ashburner, Michael

Publication type:

Article

A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 ( PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 115, doi. 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU22>3.0.CO;2-Z

By:

Thongnoppakhun, Anna;
Rungroj, Nanyawan;
Wilairat, Prapon;
Vareesangthip, Kriengsak;
Sirinavin, Chintana;
Yenchitsomanus, Pa-thai

Publication type:

Article

A new mitochondrial DNA mutation in the tRNA leucine 1 gene (C3275A) in a patient with Leber's hereditary optic neuropathy.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 120, doi. 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU33>3.0.CO;2-8

By:

Garcia-Lozano, Jose-Raul;
Aguilera, Isabel;
Bautista, Juan;
Nuñez-Roldan, Antonio

Publication type:

Article

MuStaR™ and other software for locus-specific mutation databases.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 76, doi. 10.1002/(SICI)1098-1004(200001)15:1<76::AID-HUMU15>3.0.CO;2-8

By:

Brown, Alastair F.;
McKie, Mark A.

Publication type:

Article

Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 117, doi. 10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU26>3.0.CO;2-H

By:

Orlandi, Paola;
Ritis, Kostas;
Moschese, Viviana;
Angelini, Federica;
Arvanitidis, Konstantinos;
Speletas, Matthaios;
Sideras, Paschalis;
Plebani, Alessandro;
Rossi, Paolo

Publication type:

Article

Erratum: Analysis of DNA elements that modulate myosin VIIa expression in humans.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 114, doi. 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU21>3.0.CO;2-4

By:

Orten, D.J.;
Weston, M.D.;
Kelley, P.M.;
Cremers, C.W.;
Wagenaar, M.;
Jacobson, S.G.;
Kimberling, W.J.

Publication type:

Article

p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 105, doi. 10.1002/(SICI)1098-1004(200001)15:1<105::AID-HUMU19>3.0.CO;2-G

By:

Soussi, Thierry;
Dehouche, Karim;
Béroud, Christophe

Publication type:

Article

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 7, doi. 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N

By:

Dunnen, Johan T. den;
Antonarakis, Stylianos E.

Publication type:

Article

Ethical guideposts for allelic variation databases.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 30, doi. 10.1002/(SICI)1098-1004(200001)15:1<30::AID-HUMU8>3.0.CO;2-M

By:

Knoppers, Bartha Maria;
Laberge, Claude M.

Publication type:

Article

Human Gene Mutation Database-A biomedical information and research resource.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 45, doi. 10.1002/(SICI)1098-1004(200001)15:1<45::AID-HUMU10>3.0.CO;2-T

By:

Krawczak, Michael;
Ball, Edward V.;
Fenton, Iain;
Stenson, Peter D.;
Abeysinghe, Shaun;
Thomas, Nick;
Cooper, David N.

Publication type:

Article

A novel alpha-1-antitrypsin R281del variant found in a population sample from the Basque country.

Published in:

Human Mutation, 2000, v. 15, n. 1, p. 121, doi. 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU37>3.0.CO;2-U

By:

Seixas, Susana;
Garcia, Oscar;
Amorim, António;
Rocha, Jorge

Publication type:

Article