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Volume 119; Issue 1-2
Main
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:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 264 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 584 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 105 KB
Your tags:
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
,
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 120 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 341 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 266 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 319 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 430 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 350 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 435 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 477 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 485 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 397 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 469 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 299 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 332 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 213 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 246 KB
Your tags:
english, 2006
19
The discovery of the human chromosome number in Lund, 1955–1956
Peter S. Harper
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 349 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 317 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 487 KB
Your tags:
english, 2006
22
Human-specific nonsense mutations identified by genome sequence comparisons
Yoonsoo Hahn
,
Byungkook Lee
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 329 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 310 KB
Your tags:
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:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 390 KB
Your tags:
english, 2006
25
Y-chromosomes and the extent of patrilineal ancestry in Irish surnames
Brian McEvoy
,
Daniel G. Bradley
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 411 KB
Your tags:
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
Journal:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 325 KB
Your tags:
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:
Human Genetics
Year:
2006
Language:
english
File:
PDF, 491 KB
Your tags:
english, 2006
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