Works matching IS 03406717 AND DT 2002 AND VI 110 AND IP 5

Results: 19

Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 510, doi. 10.1007/s00439-002-0707-5

By:

Mackey, David A.;
Chan, Wai-Man;
Chan, Christopher;
Gillies, W.;
Brooks, Anne M.;
O'Day, Justin;
Engle, Elizabeth C.

Publication type:

Article

RT-PCR splicing analysis of the NF1 open reading frame.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 495, doi. 10.1007/s00439-002-0714-6

By:

Thomson, Susanne A.;
Wallace, Margaret R.

Publication type:

Article

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 513, doi. 10.1007/s00439-002-0711-9

By:

Aung, Tin;
Ocaka, Louise;
Ebenezer, Neil D.;
Morris, Alex G.;
Brice, Glen;
Child, Anne H.;
Hitchings, Roger A.;
Lehmann, Ordan J.;
Bhattacharya, Shomi S.

Publication type:

Article

Identification of additional transcripts in the Williams-Beuren syndrome critical region.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 429, doi. 10.1007/s00439-002-0710-x

By:

Merla, Giuseppe;
Ucla, Catherine;
Guipponi, Michel;
Reymond, Alexandre

Publication type:

Article

An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 515, doi. 10.1007/s00439-002-0716-4

By:

Lutskiy, Maxim I.;
Jones, Lauren N.;
Rosen, Fred S.;
Remold-O'Donnell, Eileen

Publication type:

Article

D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 479, doi. 10.1007/s00439-002-0708-4

By:

Barthélémy, Cyrille;
de Baulny, Hélène Ogier;
Lombès, Anne

Publication type:

Article

Transmission disequilibrium test with discordant sib pairs when parents are available.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 451, doi. 10.1007/s00439-002-0675-9

By:

Deng, Hong-Wen;
Chen, Wei-Min;
Recker, Robert R.

Publication type:

Article

Genetic diversity and evolution of the human leptin locus tetranucleotide repeat.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 412, doi. 10.1007/s00439-002-0715-5

By:

Moffett, Susan;
Martinson, Jeremy;
Shriver, Mark D.;
Deka, Ranjan;
McGarvey, Stephen T.;
Barrantes, Ramiro;
Ferrell, Robert E.

Publication type:

Article

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 389, doi. 10.1007/s00439-002-0719-1

By:

Cryns, Kim;
Pfister, Markus;
Pennings, Ronald J. E.;
Bom, Steven J. H.;
Flothmann, Kris;
Caethoven, Goele;
Kremer, Hannie;
Schatteman, Isabelle;
Köln, Karen A.;
Tóth, Tímea;
Kupka, Susan;
Blin, Nikolaus;
Nürnberg, Peter;
Thiele, Holger;
van de Heyning, Paul H.;
Reardon, William;
Stephens, Dafydd;
Cremers, Cor W. R. J.;
Smith, Richard J. H.;
Camp, Guy Van

Publication type:

Article

Estimation of single nucleotide polymorphism allele frequency in DNA pools by using Pyrosequencing.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 395, doi. 10.1007/s00439-002-0722-6

By:

Gruber, Jonathan D.;
Colligan, Peter B.;
Wolford, Johanna K.

Publication type:

Article

Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 471, doi. 10.1007/s00439-002-0706-6

By:

Norton, Nadine;
Williams, Nigel M.;
Williams, Hywel J.;
Spurlock, Gillian;
Kirov, George;
Morris, Derek W.;
Hoogendoorn, Bastiaan;
Owen, Michael J.;
O'Donovan, Michael C.

Publication type:

Article

Genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of birth weight.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 503, doi. 10.1007/s00439-002-0718-2

By:

Lindsay, Robert S.;
Kobes, Sayuko;
Knowler, William C.;
Hanson, Robert L.

Publication type:

Article

A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 488, doi. 10.1007/s00439-002-0712-8

By:

Utsch, Boris;
Becker, Karl;
Brock, Detlef;
Lentze, Michael J.;
Bidlingmaier, Frank;
Ludwig, Michael

Publication type:

Article

Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 462, doi. 10.1007/s00439-002-0705-7

By:

Fullerton, Jan;
Paprocki, Patricia;
Foote, Simon;
Mackey, David A.;
Williamson, Robert;
Forrest, Susan

Publication type:

Article

A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22<sup>0</sup>) leading to the activation of a cryptic splice site in intron 4.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 444, doi. 10.1007/s00439-002-0720-8

By:

Stasia, Marie José;
Bordigoni, Pierre;
Martel, Cécile;
Morel, Françoise

Publication type:

Article

FISH-mapping of a 100-kb terminal 22q13 deletion.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 439, doi. 10.1007/s00439-002-0713-7

By:

Anderlid, Britt-Marie;
Schoumans, Jacqueline;
Annerén, Göran;
Tapia-Paez, Isabel;
Dumanski, Jan;
Blennow, Elisabeth;
Nordenskjöld, Magnus

Publication type:

Article

Analysis of 22 deletion breakpoints in dystrophin intron 49.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 418, doi. 10.1007/s00439-002-0721-7

By:

Nobile, Carlo;
Toffolatti, Luisa;
Rizzi, Francesca;
Simionati, Barbara;
Nigro, Vincenzo;
Cardazzo, Barbara;
Patarnello, Tomaso;
Valle, Giorgio;
Danieli, Gian Antonio

Publication type:

Article

Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 402, doi. 10.1007/s00439-002-0717-3

By:

Malik, Safarina;
Sudoyo, Herawati;
Pramoonjago, Patcharin;
Suryadi, Helena;
Sukarna, Tika;
Njunting, Marleisje;
Sahiratmadja, Edhyana;
Marzuki, Sangkot

Publication type:

Article

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.

Published in:

Human Genetics, 2002, v. 110, n. 5, p. 422, doi. 10.1007/s00439-002-0709-3

By:

de la Cruz, June M.;
Bamford, Richard N.;
Burdine, Rebecca D.;
Roessler, Erich;
Barkovich, A. James;
Donnai, Dian;
Schier, Alexander F.;
Muenke, Maximilian

Publication type:

Article