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Volume 118; Issue 2
Main
Human Genetics
Volume 118; Issue 2
Human Genetics
Volume 118; Issue 2
1
Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?
Manuela De Gregori
,
Tiziano Pramparo
,
Luigi Memo
,
Giorgio Gimelli
,
Jole Messa
,
Mariano Rocchi
,
Maria Grazia Patricelli
,
Roberto Ciccone
,
Roberto Giorda
,
Orsetta Zuffardi
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 388 KB
Your tags:
english, 2005
2
Genetic prion disease: the EUROCJD experience
Gábor G. Kovács
,
Maria Puopolo
,
Anna Ladogana
,
Maurizio Pocchiari
,
Herbert Budka
,
Cornelia van Duijn
,
Steven J. Collins
,
Alison Boyd
,
Antonio Giulivi
,
Mike Coulthart
,
Nicole Delasnerie-Laupretre
,
Jean
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 297 KB
Your tags:
english, 2005
3
Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation
Katarzyna Borg
,
Paweł Stankiewicz
,
Ewa Bocian
,
Anna Kruczek
,
Ewa Obersztyn
,
James R. Lupski
,
Tadeusz Mazurczak
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 441 KB
Your tags:
english, 2005
4
The position of premature termination codons in the hepatocyte nuclear factor −1 beta gene determines susceptibility to nonsense-mediated decay
L. W. Harries
,
Coralie Bingham
,
Christine Bellanne-Chantelot
,
A. T. Hattersley
,
Sian Ellard
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 455 KB
Your tags:
english, 2005
5
A novel homozygous missense mutation inFGF23causes Familial Tumoral Calcinosis associated with disseminated visceral calcification
Ilana Chefetz
,
Raoul Heller
,
Assimina Galli-Tsinopoulou
,
Gabriele Richard
,
Bernd Wollnik
,
Margarita Indelman
,
Friederike Koerber
,
Orit Topaz
,
Reuven Bergman
,
Eli Sprecher
,
Eckhard Schoenau
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 319 KB
Your tags:
english, 2005
6
Analysis of missense variants in thePKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)
Monique Losekoot
,
Cathleen Haarloo
,
Claudia Ruivenkamp
,
Stefan J. White
,
Martijn H. Breuning
,
Dorien J. M. Peters
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 2.39 MB
Your tags:
english, 2005
7
Familial aggregation in lone atrial fibrillation
Patrick T. Ellinor
,
Danita M. Yoerger
,
Jeremy N. Ruskin
,
Calum A. MacRae
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 229 KB
Your tags:
english, 2005
8
Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis
Ramcés Falfán-Valencia
,
Angel Camarena
,
Armida Juárez
,
Carina Becerril
,
Martha Montaño
,
José Cisneros
,
Felipe Mendoza
,
Julio Granados
,
Annie Pardo
,
Moisés Selman
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 315 KB
Your tags:
english, 2005
9
DNA Methylation and Replication: Implications for the “Deletion Hotspot” Region ofFMR1
K. Nichol Edamura
,
C. E. Pearson
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 199 KB
Your tags:
english, 2005
10
IL-10 promoter single nucleotide polymorphisms are significantly associated with resistance to leprosy
Dheeraj Malhotra
,
Katayoon Darvishi
,
Soni Sood
,
Swarkar Sharma
,
Chander Grover
,
Vineet Relhan
,
B. S. N. Reddy
,
R. N. K. Bamezai
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 210 KB
Your tags:
english, 2005
11
Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain
Anthony J. Swerdlow
,
Minouk J. Schoemaker
,
Craig D. Higgins
,
Alan F. Wright
,
Patricia A. Jacobs
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 207 KB
Your tags:
english, 2005
12
Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis
Swapan K. Nath
,
John B. Harley
,
Young Ho Lee
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 389 KB
Your tags:
english, 2005
13
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns
Karen L. Mohlke
,
Anne U. Jackson
,
Laura J. Scott
,
Erin C. Peck
,
Yong D. Suh
,
Peter S. Chines
,
Richard M. Watanabe
,
Thomas A. Buchanan
,
Karen N. Conneely
,
Michael R. Erdos
,
Narisu Narisu
,
Sareena Enloe
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 265 KB
Your tags:
english, 2005
14
A genetic and cultural odyssey. The life and work of L. Luca Cavalli-Sforza (2005). By Linda Stone, Columbia University Press, 248 pages, 40,50 Euro, ISBN 0-231-13396-0
Peter S. Harper
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 97 KB
Your tags:
english, 2005
15
A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in theHPCXregion
Agnes B. Baffoe-Bonnie
,
Jeffrey R. Smith
,
Dietrich A. Stephan
,
Johanna Schleutker
,
John D. Carpten
,
Tommi Kainu
,
Elizabeth M. Gillanders
,
Mika Matikainen
,
Tanya M. Teslovich
,
Teuvo Tammela
,
Raman Sood
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 106 KB
Your tags:
english, 2005
16
Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician’s Health Study
Sarah A. Rosner
,
Paul M. Ridker
,
Robert Y. L. Zee
,
Nancy R. Cook
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 226 KB
Your tags:
english, 2005
17
Genetic variability in a genomic region with long-range linkage disequilibrium reveals traces of a bottleneck in the history of the European population
Claudia Schmegner
,
Josef Hoegel
,
Walther Vogel
,
Günter Assum
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 405 KB
Your tags:
english, 2005
18
A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia
Yoshinari Miyamoto
,
Eiji Nakashima
,
Hisatada Hiraoka
,
Hirofumi Ohashi
,
Shiro Ikegawa
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 270 KB
Your tags:
english, 2005
19
Independent methods for evolutionary genetic dating provide insights into Y-chromosomal STR mutation rates confirming data from direct father–son transmissions
Francesca Luca
,
M. Basile
,
F. Di Giacomo
,
A. Novelletto
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 298 KB
Your tags:
english, 2005
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