Works matching IS 03406717 AND DT 2001 AND VI 109 AND IP 3

Results: 15

Association between nasal allergy and a coding variant of the FcεRIβ gene Glu237Gly in a Japanese population.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 262, doi. 10.1007/s004390100561

By:

Nagata, H.;
Mutoh, H.;
Kumahara, K.;
Arimoto, Y.;
Tomemori, T.;
Sakurai, D.;
Arase, K.;
Ohno, K.;
Yamakoshi, T.;
Nakano, K.;
Okawa, T.;
Numata, T.;
Konno, A.

Publication type:

Article

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 356, doi. 10.1007/s004390100582

By:

Pulkkinen, Leena;
Nakano, Aoi;
Ringpfeil, Franziska;
Uitto, Jouni

Publication type:

Article

Extent of linkage disequilibrium between the androgen receptor gene CAG and GGC repeats in human populations: implications for prostate cancer risk.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 253, doi. 10.1007/s004390100576

By:

Kittles, Rick A.;
Young, Dale;
Weinrich, Sally;
Hudson, Julie;
Argyropoulos, George;
Ukoli, Flora;
Adams-Campbell, Lucile;
Dunston, Georgia M.

Publication type:

Article

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 311, doi. 10.1007/s004390100559

By:

Rosenberg, M.;
Killoran, C.;
Dziadzio, L.;
Chang, S.;
Stone, D.;
Meck, J.;
Aughton, D.;
Bird, L.;
Bodurtha, J.;
Cassidy, S.;
Graham, J.;
Grix, A.;
Guttmacher, A.;
Hudgins, L.;
Kozma, C.;
Michaelis, R.C.;
Pauli, R.;
Peters, K.;
Rosenbaum, K.;
Tifft, C.

Publication type:

Article

Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 245, doi. 10.1007/s004390100580

By:

Chen, Jian-Min;
Montier, Tristan;
Férec, Claude

Publication type:

Article

Genomic structures and population histories of linguistically distinct tribal groups of India.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 339, doi. 10.1007/s004390100577

By:

Roychoudhury, Susanta;
Roy, Sangita;
Basu, Analabha;
Banerjee, Rajat;
Vishwanathan, H.;
Usha Rani, M.;
Sil, Samir K.;
Mitra, Mitashree;
Majumder, Partha P.

Publication type:

Article

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 286, doi. 10.1007/s004390100585

By:

Riegel, Mariluce;
Baumer, Alessandra;
Jamar, Mauricette;
Delbecque, Kathy;
Herens, Christian;
Verloes, Alain;
Schinzel, Albert

Publication type:

Article

Linkage of body mass index to chromosome 20 in Utah pedigrees.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 279, doi. 10.1007/s004390100581

By:

Hunt, Steven C.;
Abkevich, Victor;
Hensel, Charles H.;
Gutin, Alexander;
Neff, Chris D.;
Russell, Deanna L.;
Tran, Thanh;
Xiankang Hong;
Jammulapati, Srikanth;
Riley, Robyn;
Weaver-Feldhaus, Jane;
Macalma, Tess;
Richards, Maria M.;
Gress, Richard;
Francis, Mike;
Thomas, Alun;
Frech, Georges C.;
Adams, Ted D.;
Shattuck, Donna;
Stone, Steven

Publication type:

Article

DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 271, doi. 10.1007/s004390100572

By:

Kirschner, Renate;
Erturk, Deniz;
Zeitz, Christina;
Sahin, Selen;
Ramser, Juliane;
Cremers, Frans P.;
Ropers, H.-Hilger;
Berger, Wolfgang

Publication type:

Article

Polymorphisms within the prion-like protein gene (Prnd) and their implications in human prion diseases, Alzheimer's disease and other neurological disorders.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 319, doi. 10.1007/s004390100591

By:

xF6;rn#Schröder, Bj&;
Franz, Bettina;
Hempfling, Petra;
Selbert, Martin;
Jürgens, Thomas;
Kretzschmar, Hans A.;
Bodemer, Monika;
Poser, Sigrid;
Zerr, Inga

Publication type:

Article

Respiratory distress syndrome: evaluation of genetic susceptibility and protection by transmission disequilibrium test.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 351, doi. 10.1007/s004390100574

By:

Haataja, Ritva;
Marttila, Riitta;
Uimari, Pekka;
Löfgren, Johan;
Rämet, Mika;
Hallman, Mikko

Publication type:

Article

Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 326, doi. 10.1007/s004390100583

By:

Fumagalli, Antonella;
Ferrari, Maurizio;
Soriani, Nadia;
Gessi, Alessandra;
Foglieni, Barbara;
Martina, Elisabetta;
Manitto, Maria;
Brancato, Rosario;
Dean, Michael;
Allikmets, Rando;
Cremonesi, Laura

Publication type:

Article

Polymorphism in the alpha<sub>1</sub>-antichymotrypsin (ACT) gene promoter: effect on expression in transfected glial and liver cell lines and plasma ACT concentrations.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 303, doi. 10.1007/s004390100575

By:

Morgan, Kevin;
Licastro, Federico;
Tilley, Louise;
Ritchie, Alistair;
Morgan, Linda;
Pedrini, Steve;
Kalsheker, Noor

Publication type:

Article

Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 295, doi. 10.1007/s004390100578

By:

Sharp, Andrew;
Robinson, David O.;
Jacobs, Patricia

Publication type:

Article

Compound heterozygosity and nonsense mutations in the α<sub>1</sub>-subunit of the inhibitory glycine receptor in hyperekplexia.

Published in:

Human Genetics, 2001, v. 109, n. 3, p. 267, doi. 10.1007/s004390100569

By:

Rees, Mark I.;
Lewis, Trevor M.;
Vafa, Behnaz;
Ferrie, Colin;
Corry, Peter;
Muntoni, Fransesco;
Jungbluth, Heinz;
Stephenson, John B.;
Kerr, Mike;
Snell, Russell G.;
Schofield, Peter R.;
Owen, Michael J.

Publication type:

Article