Volume 119; Issue 1-2

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Human Genetics
Volume 119; Issue 1-2

Human Genetics

Volume 119; Issue 1-2

1

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

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

Journal:

Year:

2006

Language:

english

File:

PDF, 264 KB

english, 2006

2

Novel and recurrent rearrangements in theCFTRgene: clinical and laboratory implications for cystic fibrosis screening

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

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Year:

2006

Language:

english

File:

PDF, 584 KB

english, 2006

3

CTLA4 is differently associated with autoimmune diseases in the Dutch population

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

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Year:

2006

Language:

english

File:

PDF, 105 KB

english, 2006

4

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

Kumarasamy Thangaraj, Vempati Sridhar, Toomas Kivisild, Alla G. Reddy, Gyaneshwer Chaubey, Vijay Kumar Singh, Suminder Kaur, Pooja Agarawal, Amit Rai, Jalaj Gupta, Chandana Basu Mallick, Niraj Kumar,

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Year:

2006

Language:

english

File:

PDF, 120 KB

english, 2006

5

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

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

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Year:

2006

Language:

english

File:

PDF, 341 KB

english, 2006

6

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

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

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Year:

2006

Language:

english

File:

PDF, 266 KB

english, 2006

7

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

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

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Year:

2006

Language:

english

File:

PDF, 319 KB

english, 2006

8

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement

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

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Year:

2006

Language:

english

File:

PDF, 430 KB

english, 2006

9

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

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

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Year:

2006

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english

File:

PDF, 350 KB

english, 2006

10

Aberrant splicing inMLH1andMSH2due to exonic and intronic variants

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

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Year:

2006

Language:

english

File:

PDF, 435 KB

english, 2006

11

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

Aida M. Bertoli-Avella, Marieke C. J. Dekker, Yurii S. Aulchenko, Jeanine J. Houwing-Duistermaat, Erik Simons, Leon Testers, Luba M. Pardo, Tessa A. M. Rademaker, Pieter J. L. M. Snijders, John C. van

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Year:

2006

Language:

english

File:

PDF, 477 KB

english, 2006

12

Allelic diversity in theTGFB1regulatory region: characterization of novel functional single nucleotide polymorphisms

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

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Year:

2006

Language:

english

File:

PDF, 485 KB

english, 2006

13

Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data

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

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Year:

2006

Language:

english

File:

PDF, 397 KB

english, 2006

14

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

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

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Year:

2006

Language:

english

File:

PDF, 469 KB

english, 2006

15

Propensity for paternal inheritance of de novo mutations in Alexander disease

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

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Year:

2006

Language:

english

File:

PDF, 299 KB

english, 2006

16

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

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

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Year:

2006

Language:

english

File:

PDF, 332 KB

english, 2006

17

MUTYHand the mismatch repair system: partners in crime?

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

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Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

18

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

Jim Stankovich, Charles J. Cox, Rachel B. Tan, Douglas S. Montgomery, Stewart J. Huxtable, Justin P. Rubio, Margaret G. Ehm, Laura Johnson, Helmut Butzkueven, Trevor J. Kilpatrick, Terence P. Speed, A

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Year:

2006

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english

File:

PDF, 246 KB

english, 2006

19

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

Peter S. Harper

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Year:

2006

Language:

english

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PDF, 349 KB

english, 2006

20

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

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

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Year:

2006

Language:

english

File:

PDF, 317 KB

english, 2006

21

ASALL4zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome

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

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Year:

2006

Language:

english

File:

PDF, 487 KB

english, 2006

22

Human-specific nonsense mutations identified by genome sequence comparisons

Yoonsoo Hahn, Byungkook Lee

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Year:

2006

Language:

english

File:

PDF, 329 KB

english, 2006

23

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

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

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Year:

2006

Language:

english

File:

PDF, 310 KB

english, 2006

24

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

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

Journal:

Year:

2006

Language:

english

File:

PDF, 390 KB

english, 2006

25

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

Brian McEvoy, Daniel G. Bradley

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Year:

2006

Language:

english

File:

PDF, 411 KB

english, 2006

26

A novel heterozygous deletion in theEVC2gene causes Weyers acrofacial dysostosis

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

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Year:

2006

Language:

english

File:

PDF, 325 KB

english, 2006

27

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

Emily C. Walsh, Pardis Sabeti, Holli B. Hutcheson, Ben Fry, Stephen F. Schaffner, Paul I. W. de Bakker, Patrick Varilly, Alejandro A. Palma, Jessica Roy, Richard Cooper, Cheryl Winkler, Yi Zeng, Guy d

Journal:

Year:

2006

Language:

english

File:

PDF, 491 KB

english, 2006