Works matching IS 10597794 AND DT 2002 AND VI 19 AND IP 5

Results: 16

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 ( ALD) genes.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 526, doi. 10.1002/humu.10072

By:

Kutsche, Kerstin;
Ressler, Bernadette;
Katzera, Heide-Gertrude;
Orth, Ulrike;
Gillessen-Kaesbach, Gabriele;
Morlot, Susanne;
Schwinger, Eberhard;
Gal, Andreas

Publication type:

Article

Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes).

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 554, doi. 10.1002/humu.10076

By:

de Kok, Jacques B.;
Wiegerinck, Erwin T.G.;
Giesendorf, Belinda A.J.;
Swinkels, Dorine W.

Publication type:

Article

GeneTests-GeneClinics: Genetic testing information for a growing audience.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 501, doi. 10.1002/humu.10069

By:

Pagon, Roberta A.;
Tarczy-Hornoch, Peter;
Baskin, Patricia K.;
Edwards, Joseph E.;
Covington, Maxine L.;
Espeseth, Miriam;
Beahler, Christine;
Bird, Thomas D.;
Popovich, Bradley;
Nesbitt, Charli;
Dolan, Cynthia;
Marymee, Kathi;
Hanson, Nancy B.;
Neufeld-Kaiser, Whitney;
Grohs, Gina McCullough;
Kicklighter, Tracy;
Abair, Cynthia;
Malmin, Audin;
Barclay, Matthew;
Palepu, Rajasri Dharani

Publication type:

Article

Genetic variation screening and association studies of the adenylate cyclase activating polypeptide 1 (ADCYAP1) gene in patients with type 2 diabetes.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 572, doi. 10.1002/humu.9034

By:

Gu, Harvest F.

Publication type:

Article

Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 570, doi. 10.1002/humu.10064

By:

Francoual, Jeanne;
Rivierre, Armelle;
Mokrani, Chahnez;
Khrouf, Naïma;
Gottrand, Frédéric;
Myara, Anne;
Le Bihan, Béatrice;
Capel, Liliane;
Lindenbaum, Albert;
Labrune, Philippe

Publication type:

Article

Miniaturized sealed-tube allele-specific PCR.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 543, doi. 10.1002/humu.10060

By:

Hawkins, J. Ross;
Khripin, Yuri;
Valdes, Ana M.;
Weaver, Thomas A.

Publication type:

Article

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 486, doi. 10.1002/humu.10057

By:

Vervoort, Raf;
Wright, Alan F.

Publication type:

Article

Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 510, doi. 10.1002/humu.10068

By:

Oliveira, Carla;
Bordin, Maria Cristina;
Grehan, Nicola;
Huntsman, David;
Suriano, Gianpaolo;
Machado, José Carlos;
Kiviluoto, Tuula;
Aaltonen, Lauri;
Jackson, Charles E.;
Seruca, Raquel;
Caldas, Carlos

Publication type:

Article

Sources of variability in genetic association studies: Insights from the analysis of hepatic lipase (LIPC).

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 536, doi. 10.1002/humu.10079

By:

Shohet, Ralph V.;
Vega, Gloria L.;
Bersot, Thomas P.;
Mahley, Robert W.;
Grundy, Scott M.;
Guerra, Rudy;
Cohen, Jonathan C.

Publication type:

Article

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 572, doi. 10.1002/humu.9033

By:

Najmabadi, Hossein;
Cucci, Robert A.;
Sahebjam, Solmaz;
Kouchakian, Nafiseh;
Farhadi, Mohammad;
Kahrizi, Kimia;
Arzhangi, Sanaz;
Daneshmandan, Naiimeh;
Javan, Khalil;
Smith, Richard J.H.

Publication type:

Article

Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 560, doi. 10.1002/humu.10074

By:

Waldmüller, Stephan;
Freund, Petra;
Mauch, Simon;
Toder, Roland;
Vosberg, Hans-Peter

Publication type:

Article

Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 518, doi. 10.1002/humu.10067

By:

Humar, Bostjan;
Toro, Tumi;
Graziano, Francesco;
Müller, Hansjakob;
Dobbie, Zuzana;
Kwang-Yang, Han;
Eng, Charis;
Hampel, Heather;
Gilbert, Dale;
Winship, Ingrid;
Parry, Susan;
Ward, Robyn;
Findlay, Mike;
Christian, Alice;
Tucker, Monica;
Tucker, Kathy;
Merriman, Tony;
Guilford, Parry

Publication type:

Article

Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 465, doi. 10.1002/humu.10066

By:

Briggs, Michael D.;
Chapman, Kathryn L.

Publication type:

Article

Four novel mutations of the PKD2 gene in czech families with autosomal dominant polycystic kidney disease.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 573, doi. 10.1002/humu.9035

By:

Reiterová, J.;
Štekrová, J.;
Peters, D.J.M.;
Kapras, J.;
Kohoutová, M.;
Merta, M.;
Židovská, J.

Publication type:

Article

Pyrosequencing™: An accurate detection platform for single nucleotide polymorphisms.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 479, doi. 10.1002/humu.10078

By:

Fakhrai-Rad, Hossein;
Pourmand, Nader;
Ronaghi, Mostafa

Publication type:

Article

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.

Published in:

Human Mutation, 2002, v. 19, n. 5, p. 573, doi. 10.1002/humu.9036

By:

Innis, Jeffrey W.;
Goodman, Frances R.;
Bacchelli, Chiara;
Williams, Thomas M.;
Mortlock, Douglas P.;
Sateesh, Praveen;
Scambler, Peter J.;
McKinnon, Wendy;
Guttmacher, Alan E.

Publication type:

Article