Works matching IS 03406717 AND DT 2005 AND VI 117 AND IP 2/3

Results: 28

Eric Lander, David Page, Aravinda Chakravarti (eds): Annual review of genomics and human genetics, volume 5. Annual Reviews, Palo Alto, 2004 (ISBN 0-8243-3705-0), hardcover.

Published in:

2005

By:

Young, Ian D.

Publication type:

Book Review

SNPs in the neural cell adhesion molecule 1 gene ( NCAM1) may be associated with human neural tube defects.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 133, doi. 10.1007/s00439-005-1299-7

By:

Deak, Kristen L.;
Boyles, Abee L.;
Etchevers, Heather C.;
Melvin, Elizabeth C.;
Siegel, Deborah G.;
Graham, Felicia L.;
Slifer, Susan H.;
Enterline, David S.;
George, Timothy M.;
Vekemans, Michel;
McClay, David;
Bassuk, Alexander G.;
Kessler, John A.;
Linney, Elwood;
Gilbert, John R.;
Speer, Marcy C.

Publication type:

Article

Functional evaluation of Dent’s disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 228, doi. 10.1007/s00439-005-1303-2

By:

Ludwig, Michael;
Doroszewicz, Jolanta;
Seyberth, Hannsjörg W.;
Bökenkamp, Arend;
Balluch, Bernd;
Nuutinen, Matti;
Utsch, Boris;
Waldegger, Siegfried

Publication type:

Article

Genetic analysis of adiponectin and obesity in Hispanic families: the IRAS Family Study.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 107, doi. 10.1007/s00439-005-1260-9

By:

Sutton, Beth S.;
Weinert, Stefanie;
Langefeld, Carl D.;
Williams, Adrienne H.;
Campbell, Joel K.;
Saad, Mohammed F.;
Haffner, Steven M.;
Norris, Jill M.;
Bowden, Donald W.

Publication type:

Article

ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 101, doi. 10.1007/s00439-005-1254-7

By:

Babaei, Mahnoush;
Mitui, Midori;
Olson, Eric R.;
Gatti, Richard A.

Publication type:

Article

A newly identified RET proto-oncogene polymorphism is found in a high number of endocrine tumor patients.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 143, doi. 10.1007/s00439-005-1280-5

By:

Gartner, Wolfgang;
Mineva, Ivelina;
Daneva, Teodora;
Baumgartner-Parzer, Sabina;
Niederle, Bruno;
Vierhapper, Heinrich;
Weissel, Michael;
Wagner, Ludwig

Publication type:

Article

A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1–q22.3.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 154, doi. 10.1007/s00439-005-1284-1

By:

Qinghe Xing;
Xiangdong Chen;
Mingtai Wang;
Wenjie Bai;
Xin Peng;
Rui Gao;
Shengnan Wu;
Xueqing Qian;
Wei Qin;
Jianjun Gao;
Guoyin Feng;
Lin He

Publication type:

Article

The importance of modelling heterogeneity in complex disease: application to NIMH Schizophrenia Genetics Initiative data.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 160, doi. 10.1007/s00439-005-1282-3

By:

Holliday, Elizabeth;
Mowry, Bryan;
Chant, David;
Nyholt, Dale

Publication type:

Article

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 275, doi. 10.1007/s00439-005-1288-x

By:

Diaz-Font, Anna;
Cormand, Bru;
Santamaria, Raül;
Vilageliu, Lluïsa;
Grinberg, Daniel;
Chabás, Amparo

Publication type:

Article

The ratio of maternal to paternal UPD associated with recessive diseases.

Published in:

2005

By:

Vianna-Morgante, Angela M.

Publication type:

Letter

Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 258, doi. 10.1007/s00439-005-1305-0

By:

Clark, Vanessa J.;
Cox, Nancy J.;
Hammond, Molly;
Hanis, Craig L.;
Di Rienzo, Anna

Publication type:

Article

Fetal DNA detection in maternal plasma throughout gestation.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 243, doi. 10.1007/s00439-005-1330-z

By:

Galbiati, Silvia;
Smid, Maddalena;
Gambini, Dania;
Ferrari, Augusto;
Restagno, Gabriella;
Viora, Elsa;
Campogrande, Mario;
Bastonero, Simona;
Pagliano, Marco;
Calza, Stefano;
Ferrari, Maurizio;
Cremonesi, Laura

Publication type:

Article

Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 119, doi. 10.1007/s00439-005-1297-9

By:

Vézina, Hélène;
Durocher, Francine;
Dumont, Martine;
Houde, Louis;
Szabo, Csilla;
Tranchant, Martine;
Chiquette, Jocelyne;
Plante, Marie;
Laframboise, Rachel;
Lépine, Jean;
Nevanlinna, Heli;
Stoppa-Lyonnet, Dominique;
Goldgar, David;
Bridge, Peter;
Simard, Jacques

Publication type:

Article

Identifying nineteenth century genealogical links from genotypes.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 188, doi. 10.1007/s00439-005-1279-y

By:

Stankovich, Jim;
Bahlo, Melanie;
Rubio, Justin P.;
Wilkinson, Christopher R.;
Thomson, Russell;
Banks, Annette;
Ring, Maree;
Foote, Simon J.;
Speed, Terence P.

Publication type:

Article

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 168, doi. 10.1007/s00439-005-1287-y

By:

Szamalek, Justyna M.;
Goidts, Violaine;
Chuzhanova, Nadia;
Hameister, Horst;
Cooper, David N.;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 177, doi. 10.1007/s00439-005-1298-8

By:

Yotova, Vania;
Labuda, Damian;
Zietkiewicz, Ewa;
Gehl, Dominik;
Lovell, Alan;
Lefebvre, Jean-François;
Bourgeois, Stéphane;
Lemieux-Blanchard, Émilie;
Labuda, Marcin;
Vézina, Hélène;
Houde, Louis;
Tremblay, Marc;
Toupance, Bruno;
Heyer, Evelyne;
Hudson, Thomas J.;
Laberge, Claude

Publication type:

Article

A case of autism and uniparental disomy of chromosome 1.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 200, doi. 10.1007/s00439-005-1257-4

By:

Wassink, Thomas H.;
Losh, Molly;
Frantz, Rebecca S.;
Vieland, Veronica J.;
Goedken, Rhinda;
Piven, Joseph;
Sheffield, Val C.

Publication type:

Article

A century later Farabee has his mutation.

Published in:

2005

By:

McCready, M. Elizabeth;
Grimsey, Allison;
Styer, Timothy;
Nikkel, Sarah M.;
Bulman, Dennis E.

Publication type:

Letter

Gersen SL, Keagle MB (eds): The principles of clinical cytogenetics, 2nd edn. Humana Press, 2005 (ISBN 1-58829-300-9), hardcover, $145.00.

Published in:

2005

By:

Barber, John C. K.

Publication type:

Book Review

Evolution versus constitution: differences in chromosomal inversion.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 213, doi. 10.1007/s00439-005-1294-z

By:

Schmidt, S.;
Claussen, U.;
Liehr, T.;
Weise, A.

Publication type:

Article

Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 207, doi. 10.1007/s00439-005-1301-4

By:

Sellick, G. S.;
Longman, C.;
Brockington, M.;
Mahjneh, I.;
Sagi, L.;
Bushby, K.;
Topaloğlu, H.;
Muntoni, F.;
Houlston, R.

Publication type:

Article

The development of human genetics in Germany; a personal view.

Published in:

2005

By:

Vogel, F.

Publication type:

Editorial

Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 220, doi. 10.1007/s00439-005-1302-3

By:

Blank, Marissa C.;
Stefanescu, Radu N.;
Masuda, Emi;
Marti, Francesc;
King, Philip D.;
Redecha, Patricia B.;
Wurzburger, Robert J.;
Peterson, Margaret G. E.;
Tanaka, Shizuko;
Pricop, Luminita

Publication type:

Article

Genetic dissection of gene expression observed in whole blood samples of elderly Danish twins.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 267, doi. 10.1007/s00439-005-1308-x

By:

Qihua Tan;
Christensen, Kaare;
Christiansen, Lene;
Frederiksen, Henrik;
Bathum, Lise;
Dahlgaard, Jesper;
Kruse, Torben A.

Publication type:

Article

Evidence for a novel glaucoma locus at chromosome 3p21-22.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 249, doi. 10.1007/s00439-005-1296-x

By:

Baird, Paul N.;
Foote, Simon J.;
Mackey, David A.;
Craig, Jamie;
Speed, Terence P.;
Bureau, Alexandre

Publication type:

Article

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Published in:

Human Genetics, 2005, v. 117, n. 2/3, p. 238, doi. 10.1007/s00439-005-1275-2

By:

Sholto-Douglas-Vernon, Carolyn;
Bell, Rachel;
Brice, Glen;
Mansour, Sahar;
Sarfarazi, Mansoor;
Child, Anne H.;
Smith, Alberto;
Mellor, Russell;
Burnand, Kevin;
Mortimer, Peter;
Jeffery, Steve

Publication type:

Article

Human Gene Mutations.

Published in:: 2005
Publication type:: Abstract

Acknowledgement to Referees 2004.

Published in:: Human Genetics, 2005, v. 117, n. 2/3, p. 303, doi. 10.1007/s00439-005-1316-x
Publication type:: Article