Works matching IS 03406717 AND DT 2006 AND VI 119 AND IP 1/2

Results: 27

Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 51, doi. 10.1007/s00439-005-0108-7

By:

Bertoli-Avella, Aida M.;
Dekker, Marieke C. J.;
Aulchenko, Yurii S.;
Houwing-Duistermaat, Jeanine J.;
Simons, Erik;
Testers, Leon;
Pardo, Luba M.;
Rademaker, Tessa A. M.;
Snijders, Pieter J. L.;
Swieten, John C.;
Bonifati, Vincenzo;
Heutink, Peter;
van Duijn, Cornelia M.;
Oostra, Ben A.

Publication type:

Article

Human-specific nonsense mutations identified by genome sequence comparisons.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 169, doi. 10.1007/s00439-005-0125-6

By:

Hahn, Yoonsoo;
Lee, Byungkook

Publication type:

Article

Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 179, doi. 10.1007/s00439-005-0127-4

By:

Mackay, D. J. G.;
Hahnemann, J. M. D.;
Boonen, S. E.;
Poerksen, S.;
Bunyan, D. J.;
White, H. E.;
Durston, V. J.;
Thomas, N. S.;
Robinson, D. O.;
Shield, J. P. H.;
Clayton-Smith, J.;
Temple, I. K.

Publication type:

Article

CTLA4 is differently associated with autoimmune diseases in the Dutch population.

Published in:

2006

By:

Zhernakova, Alexandra;
Eerligh, Peter;
Barrera, Pilar;
Weseloy, Joanna Z.;
Huizinga, Tom W. J.;
Roep, Bart O.;
Wijmenga, Cisca;
Koeleman, Bobby P. C.

Publication type:

Correction Notice

Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 162, doi. 10.1007/s00439-005-0122-9

By:

Mansouri, Mahmoud;
Carlsson, Birgit;
Davey, Edward;
Nordenskjöld, Agneta;
Wester, Tomas;
Annerén, Göran;
Läckgren, Göran;
Dahl, Niklas

Publication type:

Article

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 1, doi. 10.1007/s00439-005-0097-6

By:

Bendavid, Claude;
Dubourg, Christèle;
Gicquel, Isabelle;
Pasquier, Laurent;
Saugier-Veber, Pascale;
Durou, Marie-Renée;
Jaillard, Sylvie;
Frébourg, Thierry;
Haddad, Bassem R.;
Henry, Catherine;
Odent, Sylvie;
David, Véronique

Publication type:

Article

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 9, doi. 10.1007/s00439-005-0107-8

By:

Pagenstecher, Constanze;
Wehner, Maria;
Friedl, Waltraut;
Rahner, Nils;
Aretz, Stefan;
Friedrichs, Nicolaus;
Sengteller, Marlies;
Henn, Wolfram;
Buettner, Reinhard;
Propping, Peter;
Mangold, Elisabeth

Publication type:

Article

Towards compendia of negative genetic association studies: an example for Alzheimer disease.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 29, doi. 10.1007/s00439-005-0078-9

By:

Blomqvist, Mia E. L.;
Reynolds, Chandra;
Katzov, Hagit;
Feuk, Lars;
Andreasen, Niels;
Bogdanovic, Nenad;
Blennow, Kaj;
Brookes, Anthony J.;
Prince, Jonathan A.

Publication type:

Article

Peptidoglycan recognition proteins Pglyrp3 and Pglyrp4 are encoded from the epidermal differentiation complex and are candidate genes for the Psors4 locus on chromosome 1q21.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 113, doi. 10.1007/s00439-005-0115-8

By:

Chao Sun;
Mathur, Punam;
Dupuis, Josée;
Tizard, Rich;
Ticho, Barry;
Crowell, Tom;
Gardner, Humphrey;
Bowcock, Anne M.;
Carulli, John

Publication type:

Article

Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 23, doi. 10.1007/s00439-005-0100-2

By:

Tonini, Maria Manuela O.;
Lemmers, Richard J. L. F.;
Pavanello, Rita C. M.;
Cerqueira, Antonia M. P.;
Frants, Rune R.;
van der Maarel, Silvere M.;
Zatz, Mayana

Publication type:

Article

Functional polymorphisms of FGA, encoding α fibrinogen, are associated with susceptibility to venous thromboembolism in a Taiwanese population.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 84, doi. 10.1007/s00439-005-0102-0

By:

Yu-Lin Ko;
Lung-An Hsu;
Tsu-Shiu Hsu;
Chia-Ti Tsai;
Ming-Sheng Teng;
Semon Wu;
Chi-Jen Chang;
Ying-Shiung Lee

Publication type:

Article

Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 38, doi. 10.1007/s00439-005-0114-9

By:

Bahlo, Melanie;
Stankovich, Jim;
Speed, Terence P.;
Rubio, Justin P.;
Burfoot, Rachel K.;
Foote, Simon J.

Publication type:

Article

Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations.

Published in:

2006

By:

Thangaraj, Kumarasamy;
Sridhar, Vempati;
Kivisild, Toomas;
Reddy, Alla G.;
Chaubey, Gyaneshwer;
Singh, Vijay Kumar;
Kaur, Suminder;
Agarawal, Pooja;
Rai, Amit;
Gupta, Jalaj;
Mallick, Chandana Basu;
Kumar, Niraj P.;
Velavan, Thrimulaisamy P.;
Suganthan, Rajanbabu;
Udaykumar, Divi;
Kumar, Rashmi;
Mishra, Rachana;
Khan, Arif;
Annapurna, Chitikineni;
Singh, Lalji

Publication type:

Correction Notice

Searching for signals of evolutionary selection in 168 genes related to immune function.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 92, doi. 10.1007/s00439-005-0090-0

By:

Walsh, Emily C.;
Sabeti, Pardis;
Hutcheson, Holli B.;
Fry, Ben;
Schaffner, Stephen F.;
de Bakker, Paul I. W.;
Varilly, Patrick;
Palma, Alejandro A.;
Roy, Jessica;
Cooper, Richard;
Winkler, Cheryl;
Yi Zeng;
de The, Guy;
Lander, Eric S.;
O'Brien, Stephen;
Altshuler, David

Publication type:

Article

Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 103, doi. 10.1007/s00439-005-0117-6

By:

Szamalek, Justyna M.;
Cooper, David N.;
Schempp, Werner;
Minich, Peter;
Kohn, Matthias;
Hoegel, Josef;
Goidts, Violaine;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 145, doi. 10.1007/s00439-005-0103-z

By:

Fauth, Christine;
Gribble, Susan M.;
Porter, Keith M.;
Codina-Pascual, Montserrat;
Bee Ling Ng;
Kraus, Jürgen;
Uhrig, Sabine;
Leifheit, Jürgen;
Haaf, Thomas;
Fiegler, Heike;
Carter, Nigel P.;
Speicher, Michael R.

Publication type:

Article

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 126, doi. 10.1007/s00439-005-0082-0

By:

Hantash, Feras M.;
Redman, Joy B.;
Starn, Kelsey;
Anderson, Ben;
Buller, Arlene;
McGinniss, Matthew J.;
Quan, Franklin;
Mei Peng;
Weimin Sun;
Strom, Charles M.

Publication type:

Article

Propensity for paternal inheritance of de novo mutations in Alexander disease.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 137, doi. 10.1007/s00439-005-0116-7

By:

Rong Li;
Johnson, Anne B.;
Salomons, Gajja S.;
van der Knaap, Marjo S.;
Rodriguez, Diana;
Boespflug-Tanguy, Odile;
Rafael Gorospe, J.;
Goldman, James E.;
Messing, Albee;
Brenner, Michael

Publication type:

Article

Allelic diversity in the TGFB1 regulatory region: characterization of novel functional single nucleotide polymorphisms.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 61, doi. 10.1007/s00439-005-0112-y

By:

Shah, Riddhish;
Rahaman, Brad;
Hurley, Carolyn Katovich;
Posch, Phillip E.

Publication type:

Article

Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 185, doi. 10.1007/s00439-005-0130-9

By:

Goidts, Violaine;
Armengol, Lluis;
Schempp, Werner;
Conroy, Jeffrey;
Nowak, Norma;
Müller, Stefan;
Cooper, David N.;
Estivill, Xavier;
Enard, Wolfgang;
Szamalek, Justyna M.;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Large-scale characterization of public database SNPs causing non-synonymous changes in three ethnic groups.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 75, doi. 10.1007/s00439-005-0105-x

By:

Ireland, James;
Carlton, Victoria E. H.;
Falkowski, Matthew;
Moorhead, Martin;
Tran, Karen;
Useche, Francisco;
Hardenbol, Paul;
Erbilgin, Ayca;
Fitzgerald, Ron;
Willis, Thomas D.;
Faham, Malek

Publication type:

Article

A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 154, doi. 10.1007/s00439-005-0124-7

By:

Miertus, Jan;
Borozdin, Wiktor;
Frecer, Vladimir;
Tonini, Giorgio;
Bertok, Sara;
Amoroso, Antonio;
Miertus, Stanislav;
Kohlhase, Jürgen

Publication type:

Article

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 199, doi. 10.1007/s00439-005-0129-2

By:

Xiaoqian Ye;
Guangtai Song;
Mingwen Fan;
Lisong Shi;
Jabs, Ethylin Wang;
Shangzhi Huang;
Ruiqiang Guo;
Zhuan Bian

Publication type:

Article

On the utility of data from the International HapMap Project for Australian association studies.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 220, doi. 10.1007/s00439-005-0120-y

By:

Stankovich, Jim;
Cox, Charles J.;
Tan, Rachel B.;
Montgomery, Douglas S.;
Huxtable, Stewart J.;
Rubio, Justin P.;
Ehm, Margaret G.;
Johnson, Laura;
Butzkueven, Helmut;
Kilpatrick, Trevor J.;
Speed, Terence P.;
Roses, Allen D.;
Bahlo, Melanie;
Foote, Simon J.

Publication type:

Article

MUTYH and the mismatch repair system: partners in crime?

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 206, doi. 10.1007/s00439-005-0118-5

By:

Niessen, Renée;
Sijmons, Rolf H.;
Ou, J.;
Olthof, Sandra G. M.;
Osinga, Jan;
Ligtenberg, Marjolijn J.;
Hogervorst, Frans B. L.;
Weiss, Marjan M.;
Tops, Carli M. J.;
Hes, Frederik J.;
de Bock, Geertruida H.;
Buys, Charles H. C.;
Kleibeuker, Jan H.;
Hofstra, Robert M. W.

Publication type:

Article

Y-chromosomes and the extent of patrilineal ancestry in Irish surnames.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 212, doi. 10.1007/s00439-005-0131-8

By:

McEvoy, Brian;
Bradley, Daniel G.

Publication type:

Article

The discovery of the human chromosome number in Lund, 1955–1956.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 226, doi. 10.1007/s00439-005-0121-x

By:

Harper, Peter S.

Publication type:

Article