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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

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