Works matching IS 03406717 AND DT 2002 AND VI 111 AND IP 4/5

Results: 30

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 305, doi. 10.1007/s00439-002-0786-3

By:

Beyer, Kim S.;
Blasi, Francesca;
Bacchelli, Elena;
Klauck, Sabine M.;
Maestrini, Elena;
Poustka, Annemarie

Publication type:

Article

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 376, doi. 10.1007/s00439-002-0777-4

By:

Monk, David;
Bentley, Louise;
Hitchins, Megan;
Myler, Rachael A.;
Clayton-Smith, Jill;
Ismail, Samira;
Price, Sue M.;
Preece, Michael A.;
Stanier, Philip;
Moore, Gudrun E.

Publication type:

Article

Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 314, doi. 10.1007/s00439-002-0792-5

By:

Forlino, Antonella;
Lupi, Anna;
Vaghi, Patrizia;
Icaro Cornaglia, Antonia;
Calligaro, Alberto;
Campari, Elena;
Cetta, Giuseppe

Publication type:

Article

Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 405, doi. 10.1007/s00439-002-0810-7

By:

Koppens, Paul F.;
Hoogenboezem, Theo;
Degenhart, Herman J.

Publication type:

Article

CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 452, doi. 10.1007/s00439-002-0807-2

By:

Hudson, Lori L.;
Rocca, Keith;
Song, Yeong W.;
Pandey, Janardan P.

Publication type:

Article

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 323, doi. 10.1007/s00439-002-0805-4

By:

Stöber, Gerald;
Seelow, Dominik;
Rüschendorf, Franz;
Ekici, Arif;
Beckmann, Helmut;
Reis, André

Publication type:

Article

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 331, doi. 10.1007/s00439-002-0808-1

By:

Le Saux, Olivier;
Beck, Konstanze;
Sachsinger, Christine;
Treiber, Carina;
Göring, Harald H.;
Curry, Katie;
Johnson, Eric W.;
Bercovitch, Lionel;
Marais, Anna-Susan;
Terry, Sharon F.;
Viljoen, Denis L.;
Boyd, Charles D.

Publication type:

Article

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 360, doi. 10.1007/s00439-002-0798-z

By:

Sumi, Satoshi;
Marinaki, Anthony M.;
Arenas, Monica;
Fairbanks, Lynette;
Shobowale-Bakre, Monsor;
Rees, David C.;
Thein, Swee;
Ansari, Azhar;
Sanderson, Jeremy;
De Abreu, Ronney A.;
Simmonds, Anne H.;
Duley, John A.

Publication type:

Article

Investigation of oxidized LDL-receptor 1 (OLR1) as the candidate gene for Alzheimer's disease on chromosome 12.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 443, doi. 10.1007/s00439-002-0802-7

By:

Luedecking-Zimmer, Erin;
DeKosky, Steven T.;
Chen, Qi;
Barmada, Michael M.;
Kamboh, Ilyas M.

Publication type:

Article

October 2002.

Published in:: Human Genetics, 2002, v. 111, n. 4/5, p. 475, doi. 10.1007/s00439-002-0842-z
Publication type:: Article

Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 350, doi. 10.1007/s00439-002-0793-4

By:

Linnebank, Michael;
Tschiedel, Eva;
Häberle, Johannes;
Linnebank, Anja;
Willenbring, Holger;
Kleijer, Wim J.;
Koch, Hans G.

Publication type:

Article

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 421, doi. 10.1007/s00439-002-0803-6

By:

Ion, Andra;
Tartaglia, Marco;
Song, Xiaoling;
Kalidas, Kamini;
van der Burgt, Ineke;
Shaw, Adam C.;
Ming, Jeffrey E.;
Zampino, Giuseppe;
Zackai, Elaine H.;
Dean, John C.;
Somer, Mirja;
Parenti, Giancarlo;
Crosby, Andrew H.;
Patton, Michael A.;
Gelb, Bruce D.;
Jeffery, Steve

Publication type:

Article

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 401, doi. 10.1007/s00439-002-0785-4

By:

Salehi, Leila;
Mangino, Massimo;
De Serio, Salvatore;
De Cicco, Domenico;
Capon, Francesca;
Semprini, Sabrina;
Pizzuti, Antonio;
Novelli, Giuseppe;
Dallapiccola, Bruno

Publication type:

Article

ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 398, doi. 10.1007/s00439-002-0816-1

By:

Shea, Patrick R.;
Ferrell, Robert E.;
Patrick, Alan L.;
Kuller, Lewis H.;
Bunker, Clareann H.

Publication type:

Article

Identification and characterisation of novel mammalian homologues of Drosophila polyhomeotic permits new insights into relationships between members of the polyhomeotic family.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 435, doi. 10.1007/s00439-002-0814-3

By:

Tonkin, Emma;
Hagan, Donna-Marie;
Li, Weiping;
Strachan, Tom

Publication type:

Article

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

Published in:

2002

By:

Ming, Jeffrey E.;
Kaupas, Michelle E.;
Roessler, Erich;
Brunner, Han G.;
Golabi, Mahin;
Tekin, Mustafa;
Stratton, Robert F.;
Sujansky, Eva;
Bale, Sherri J.;
Muenke, Maximilian

Publication type:

Erratum

A detailed physical map of the 6p reading disability locus, including new markers and confirmation of recombination suppression.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 339, doi. 10.1007/s00439-002-0771-x

By:

Ahn, Jung;
Won, Tae-Woong;
Kaplan, Deborah E.;
Londin, Eric R.;
Kuzmič, Petr;
Gelernter, Joel;
Gruen, Jeffrey R.

Publication type:

Article

Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 428, doi. 10.1007/s00439-002-0806-3

By:

Génin, Emmanuelle;
Huebner, Angela;
Jaillard, Christine;
Faure, Armelle;
Halaby, Georges;
Saka, Nurçin;
Clark, Adrian J.;
Durand, Philippe;
Bégeot, Martine;
Naville, Danielle

Publication type:

Article

Folate and human development: Edward J. Massaro, John M. Rogers (editors), Humana Press, ISBN 0-896-03936-6, Harcover, US$ 119.00.

Published in:

2002

By:

Fryer, Alan

Publication type:

Book Review

Derek Chadwick, Jamie Goode (eds): The Genetics and Biology of Sex Determination (Novartis Symposium 244): Wiley, 2002, 266 pp, hardcover (ISBN 0470843462) £75.00.

Published in:

2002

By:

Greenfield, Andy

Publication type:

Book Review

Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 310, doi. 10.1007/s00439-002-0812-5

By:

Semprini, Sabrina;
Capon, Francesca;
Tacconelli, Alessandra;
Giardina, Emiliano;
Orecchia, Angela;
Mingarelli, Rita;
Gobello, Tommaso;
Zambruno, Giovanna;
Botta, Annalisa;
Fabrizi, Giuseppe;
Novelli, Giuseppe

Publication type:

Article

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 368, doi. 10.1007/s00439-002-0815-2

By:

McCready, Elizabeth M.;
Sweeney, Elizabeth;
Fryer, Allan E.;
Donnai, Dian;
Baig, Akeel;
Racacho, Lemuel;
Warman, Matthew L.;
Hunter, Alasdair G.;
Bulman, Dennis E.

Publication type:

Article

Genomic evidence versus characterisation of a single (17;22) translocation on NF1 gene duplication: lessons from deletions in "balanced" chromosomal rearrangements. Reply.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 468, doi. 10.1007/s00439-002-0795-2

By:

Riva, Paola;
Gervasini, Cristina;
Larizza, Lidia

Publication type:

Article

Frontiers of hormone research (series editor: A.B. Grossman), volume 28: genetic disorders of endocrine neoplasia: P.L.M. Dahia, C. Eng (editors), Karger, Basel, ISBN 3-8055-7203-4, Hardcover, US$ 239.25, 218 pages.

Published in:

2002

By:

Pearce, Simon

Publication type:

Book Review

Associations between gene expressions in breast cancer and patient survival.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 411, doi. 10.1007/s00439-002-0804-5

By:

Jenssen, T.-K.;
Kuo, W.;
Stokke, T.;
Hovig, E.

Publication type:

Article

Mitochondrial DNA 5178A polymorphism and longevity.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 462, doi. 10.1007/s00439-002-0826-z

By:

Yao, Yong-Gang;
Kong, Qing-Peng;
Zhang, Ya-Ping

Publication type:

Article

Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 465, doi. 10.1007/s00439-002-0794-3

By:

Kehrer-Sawatzki, Hildegard;
Assum, Günter;
Hameister, Horst

Publication type:

Article

Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 388, doi. 10.1007/s00439-002-0782-7

By:

Verbeek, Dineke S.;
Schelhaas, Jurgen H.;
Ippel, Elly F.;
Beemer, Frits A.;
Pearson, Peter L.;
Sinke, Richard J.

Publication type:

Article

The prevalence of connexin 26 (GJB2) mutations in the Chinese population.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 394, doi. 10.1007/s00439-002-0811-6

By:

Liu, Xue;
Xia, Xia;
Ke, Xiao;
Ouyang, Xiao;
Du, Li;
Liu, Yu;
Angeli, Simon;
Telischi, Fred F.;
Nance, Walter E.;
Balkany, Thomas;
Xu, Li

Publication type:

Article

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

Published in:

Human Genetics, 2002, v. 111, n. 4/5, p. 456, doi. 10.1007/s00439-002-0817-0

By:

Morgan, Neil V.;
Gissen, Paul;
Sharif, Saghira;
Baumber, Laura;
Sutherland, Joan;
Kelly, Deirdre A.;
Aminu, Kingi;
Bennett, Christopher P.;
Woods, Geoffrey C.;
Mueller, Robert F.;
Trembath, Richard C.;
Maher, Eamonn R.;
Johnson, Colin A.

Publication type:

Article