Works matching IS 03406717 AND DT 2002 AND VI 111 AND IP 1

Results: 18

Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 88, doi. 10.1007/s00439-002-0758-7

By:

Su, Li-Kuo;
Kohlmann, Wendy;
Ward, Patricia A.;
Lynch, Patrick M.

Publication type:

Article

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 31, doi. 10.1007/s00439-002-0739-x

By:

Popp, Susanne;
Schulze, Birgit;
Granzow, Martin;
Keller, Monika;
Holtgreve-Grez, Heidi;
Schoell, Brigitte;
Brough, Michaela;
Hager, Hans-Dieter;
Tariverdian, Gholamali;
Brown, Jill;
Kearney, Lyndal;
Jauch, Anna

Publication type:

Article

London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001: R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, £1595.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 113, doi. 10.1007/s00439-002-0759-6

By:

Fryns, J.-P.;
de Ravel, T. J. L.

Publication type:

Article

The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 105, doi. 10.1007/s00439-002-0751-1

By:

Cerrato, Flavia;
Vernucci, Maria;
Pedone, Paolo V.;
Chiariotti, Lorenzo;
Sebastio, Gianfranco;
Bruni, Carmelo B.;
Riccio, Andrea

Publication type:

Article

DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 66, doi. 10.1007/s00439-002-0737-z

By:

Rowntree, Rebecca;
Harris, Ann

Publication type:

Article

SLEB3 in systemic lupus erythematosus (SLE) is strongly related to SLE families ascertained through neuropsychiatric manifestations.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 54, doi. 10.1007/s00439-002-0743-1

By:

Nath, Swapan K.;
Kelly, Jennifer A.;
Reid, Jeff;
Lam, Tom;
Gray-McGuire, Courtney;
Namjou, Bahram;
Aston, Christopher E.;
Harley, John B.

Publication type:

Article

Centromeric association of chromosome 16- and 18-derived microchromosomes.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 16, doi. 10.1007/s00439-002-0744-0

By:

Felbor, Ute;
Rutschow, Désirée;
Haaf, Thomas;
Schmid, Michael

Publication type:

Article

SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 96, doi. 10.1007/s00439-002-0738-y

By:

Roberts, Penelope S.;
Chung, Joon;
Jozwiak, Sergiusz;
Dabora, Sandra L.;
Franz, David N.;
Thiele, Elizabeth A.;
Kwiatkowski, David J.

Publication type:

Article

Prevalence of the CCR5Δ32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 102, doi. 10.1007/s00439-002-0747-x

By:

Grimaldi, Rogério;
Shindo, Nice;
Acosta, Angelina;
Dourado, Inês;
Brites, Carlos;
de Melo Carvalho, Ozenilda;
Brito, Ivo;
Bou-Habib, Dumith Chequer;
Galvão-Castro, Bernardo

Publication type:

Article

Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 9, doi. 10.1007/s00439-002-0753-z

By:

Angius, Andrea;
Bebbere, Daniela;
Petretto, Enrico;
Falchi, Mario;
Forabosco, Paola;
Maestrale, Giovanni;
Casu, Giuseppina;
Persico, Ivana;
Melis, Paola M.;
Pirastu, Mario

Publication type:

Article

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 108, doi. 10.1007/s00439-002-0748-9

By:

Friedl, Waltraut;
Uhlhaas, Siegfried;
Schulmann, Karsten;
Stolte, Manfred;
Loff, Steffan;
Back, Walter;
Mangold, Elisabeth;
Stern, Martin;
Knaebel, Hanns-Peter;
Sutter, Christian;
Weber, Ruthild G.;
Pistorius, Steffen;
Burger, Bettina;
Propping, Peter

Publication type:

Article

Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 1, doi. 10.1007/s00439-002-0769-4

By:

Ying-Hwa Chen;
Shing-Jong Lin;
Ming-Wei Lin;
Hui-Ling Tsai;
San-San Kuo;
Jaw-Wen Chen;
Min-Ji Charng;
Tao-Cheng Wu;
Lung-Ching Chen;
Ding, Philip;
Wen-Harn Pan;
Yuh-Shan Jou;
Lee-Young Chau

Publication type:

Article

Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 75, doi. 10.1007/s00439-002-0763-x

By:

Fullerton, Stephanie M.;
Clark, Andrew G.;
Weiss, Kenneth M.;
Taylor, Scott L.;
Stengård, Jari H.;
Salomaa, Veikko;
Boerwinkle, Eric;
Nickerson, Deborah A.

Publication type:

Article

Analysis of phylogenetically reconstructed mutational spectra in human mitochondrial DNA control region.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 46, doi. 10.1007/s00439-002-0740-4

By:

Malyarchuk, Boris A.;
Rogozin, Igor B.;
Berikov, Vladimir B.;
Derenko, Miroslava V.

Publication type:

Article

A new locus for coeliac disease mapped to chromosome 15 in a population isolate.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 40, doi. 10.1007/s00439-002-0745-z

By:

Woolley, Niina;
Holopainen, Päivi;
Ollikainen, Vesa;
Mustalahti, Kirsi;
Mäki, Markku;
Kere, Juha;
Partanen, Jukka

Publication type:

Article

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 26, doi. 10.1007/s00439-002-0736-0

By:

Xiao Mei Ouyang;
Xia Juan Xia;
Verpy, Elisabeth;
Li LinDu;
Pandya, Arti;
Petit, Christine;
Balkany, Thomas;
Nance, Walter E.;
Xue Zhong Liu

Publication type:

Article

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

Published in:

2002

By:

Leegwater, P. A. J.;
Boor, P. K. I.;
Yuan, B. Q.;
van der Steen, J.;
Visser, A.;
Könst, A. A. M.;
Oudejans, C. B. M.;
Schutgens, R. B. H.;
Pronk, J. C.;
van der Knaap, M. S.

Publication type:

Erratum

Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties.

Published in:

Human Genetics, 2002, v. 111, n. 1, p. 59, doi. 10.1007/s00439-002-0746-y

By:

Soria, José Manauel;
Blangero, John;
Souto, Joan Carles;
Martínez-Sánchez, Elisabeth;
Martínez-Marchán, Elisabeth;
Coll, Immaculada;
Tirado, Isabel;
Cercós, Albert;
Almasy, Laura;
Fontcuberta, Jordi

Publication type:

Article