Works matching IS 03406717 AND DT 2001 AND VI 109 AND IP 6

Results: 17

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 638, doi. 10.1007/s00439-001-0626-x

By:

Kelberman, D.;
Tyson, J.;
Chandler, D.;
McInerney, A.;
Slee, J.;
Albert, D.;
Aymat, A.;
Botma, M.;
Calvert, M.;
Goldblatt, J.;
Haan, E.;
Laing, N.;
Lim, J.;
Malcolm, S.;
Singer, S.;
Winter, R.;
Bitner-Glindzicz, M.

Publication type:

Article

A full-length and potentially active LINE element is integrated polymorphically within the IGL locus in a genomically unstable region of chromosome 22.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 628, doi. 10.1007/s00439-001-0613-2

By:

Benjes, Suzanne M.;
Morris, Christine M.

Publication type:

Article

Krystyne E. Wisniewski and Nanbert Zhong (eds): Batten disease: diagnosis, treatment and research. (Advances in Genetics, vol 45): Academic, London (2001) 243 pages (ISBN 0-12-017645-9) £59.95.

Published in:

2001

By:

Gardiner, Mark

Publication type:

Book Review

Mutation spectrum and splicing variants in the OPA1 gene.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 584, doi. 10.1007/s00439-001-0633-y

By:

Delettre, Cécile;
Griffoin, Jean-Michel;
Kaplan, Josseline;
Dollfus, Hélène;
Lorenz, Birgit;
Faivre, Laurence;
Lenaers, Guy;
Belenguer, Pascale;
Hamel, Christian P.

Publication type:

Article

Karen Steinberg: The Genetic Basis of Cancer [CD Rom]: Oxford University Press (2001) CD Rom, ISBN 0-19-512675-0, CD Rom, £65.00.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 681, doi. 10.1007/s00439-001-0623-0

By:

France, Elizabeth A.

Publication type:

Article

The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 569, doi. 10.1007/s004390100607

By:

Guipponi, Michel;
Tapparel, Caroline;
Jousson, Olivier;
Scamuffa, Nathalie;
Mas, Christophe;
Rossier, Colette;
Hutter, Pierre;
Meda, Paolo;
Lyle, Robert;
Reymond, Alexandre;
Antonarakis, Stylianos E.

Publication type:

Article

Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 659, doi. 10.1007/s00439-001-0627-9

By:

Weale, Michael E.;
Yepiskoposyan, Levon;
Jager, Rolf F.;
Hovhannisyan, Nelli;
Khudoyan, Armine;
Burbage-Hall, Oliver;
Bradman, Neil;
Thomas, Mark G.

Publication type:

Article

A new strategy for the detection of subtelomeric rearrangements.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 576, doi. 10.1007/s00439-001-0629-7

By:

Fauth, Christine;
Zhang, Hongen;
Harabacz, Stephanie;
Brown, Jill;
Saracoglu, Kaan;
Lederer, Gaby;
Rittinger, Olaf;
Rost, Imma;
Eils, Roland;
Kearney, Lyndal;
Speicher, Michael R.

Publication type:

Article

Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 616, doi. 10.1007/s00439-001-0632-z

By:

Guimarães, Carla P.;
Lemos, Manuela;
Menezes, Isabel;
Coelho, Teresa;
Sá-Miranda, Clara;
Azevedo, Jorge E.

Publication type:

Article

TGFβ1 allele association with asthma severity.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 623, doi. 10.1007/s00439-001-0617-y

By:

Pulleyn, Louise J.;
Newton, Robert;
Adcock, Ian M.;
Barnes, Peter J.

Publication type:

Article

The HUGO Gene Nomenclature Committee (HGNC).

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 678, doi. 10.1007/s00439-001-0615-0

By:

Povey, Sue;
Lovering, Ruth;
Bruford, Elspeth;
Wright, Mathew;
Lush, Michael;
Wain, Hester

Publication type:

Article

Christopher Gillberg and Mary Coleman: The biology of the autistic syndromes, 3rd edn: Cambridge University Press, Cambridge (2000) 330 pages (ISBN 1-898-68322-0) £60.00, $95.00.

Published in:

2001

By:

Thapar, Anita

Publication type:

Book Review

ASP – a simulation-based power calculator for genetic linkage studies of qualitative traits, using sib-pairs.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 675, doi. 10.1007/s00439-001-0634-x

By:

Krawczak, Michael

Publication type:

Article

Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 653, doi. 10.1007/s00439-001-0644-8

By:

Campos-Xavier, Ana;
Saraiva, Jorge M.;
Savarirayan, Ravi;
Verloes, Alain;
Feingold, Josué;
Faivre, Laurence;
Munnich, Arnold;
Le Merrer, Martine;
Cormier-Daire, Valérie

Publication type:

Article

Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 646, doi. 10.1007/s00439-001-0614-1

By:

Abraham, Richard;
Myers, Amanda;
Wavrant-DeVrieze, Fabienne;
Hamshere, Marian L.;
Thomas, Hollie V.;
Marshall, Helen;
Compton, Danielle;
Spurlock, Gillian;
Turic, Dragana;
Hoogendoorn, Bastiaan;
Kwon, Jennifer M.;
Petersen, Ronald C.;
Tangalos, Eric;
Norton, Joanne;
Morris, John C.;
Bullock, Roger;
Liolitsa, Danae;
Lovestone, Simon;
Hardy, John;
Goate, Alison

Publication type:

Article

Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A→G, 2751+2T→A, 296+1G→C, 1717–9T→C-D565G) and one nonsense mutation (E822X) in the CFTR gene.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 592, doi. 10.1007/s00439-001-0631-0

By:

Tzetis, Maria;
Efthymiadou, Alexandra;
Doudounakis, Stavros;
Kanavakis, Emmanuel

Publication type:

Article

The molecular basis of familial hypercholesterolemia in The Netherlands.

Published in:

Human Genetics, 2001, v. 109, n. 6, p. 602, doi. 10.1007/s00439-001-0628-8

By:

Fouchier, Sigrid W.;
Defesche, Joep C.;
Umans-Eckenhausen, Marina A.;
Kastelein, John J.

Publication type:

Article