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
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
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
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
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
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