Volume 117; Issue 2-3

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Human Genetics
Volume 117; Issue 2-3

Human Genetics

Volume 117; Issue 2-3

1

ATMhaplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype

Mahnoush Babaei, Midori Mitui, Eric R. Olson, Richard A. Gatti

Journal:

Year:

2005

Language:

english

File:

PDF, 348 KB

english, 2005

2

A case of autism and uniparental disomy of chromosome 1

Thomas H. Wassink, Molly Losh, Rebecca S. Frantz, Veronica J. Vieland, Rhinda Goedken, Joseph Piven, Val C. Sheffield

Journal:

Year:

2005

Language:

english

File:

PDF, 392 KB

english, 2005

3

Genetic analysis of adiponectin and obesity in Hispanic families: the IRAS Family Study

Beth S. Sutton, Stefanie Weinert, Carl D. Langefeld, Adrienne H. Williams, Joel K. Campbell, Mohammed F. Saad, Steven M. Haffner, Jill M. Norris, Donald W. Bowden

Journal:

Year:

2005

Language:

english

File:

PDF, 513 KB

english, 2005

4

Lymphoedema-distichiasis andFOXC2: unreported mutations, de novo mutation estimate, families without coding mutations

Carolyn Sholto-Douglas-Vernon, Rachel Bell, Glen Brice, Sahar Mansour, Mansoor Sarfarazi, Anne H. Child, Alberto Smith, Russell Mellor, Kevin Burnand, Peter Mortimer, Steve Jeffery

Journal:

Year:

2005

Language:

english

File:

PDF, 258 KB

english, 2005

5

Identifying nineteenth century genealogical links from genotypes

Jim Stankovich, Melanie Bahlo, Justin P. Rubio, Christopher R. Wilkinson, Russell Thomson, Annette Banks, Maree Ring, Simon J. Foote, Terence P. Speed

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Year:

2005

Language:

english

File:

PDF, 404 KB

english, 2005

6

A newly identifiedRETproto-oncogene polymorphism is found in a high number of endocrine tumor patients

Wolfgang Gartner, Ivelina Mineva, Teodora Daneva, Sabina Baumgartner-Parzer, Bruno Niederle, Heinrich Vierhapper, Michael Weissel, Ludwig Wagner

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Year:

2005

Language:

english

File:

PDF, 438 KB

english, 2005

7

The importance of modelling heterogeneity in complex disease: application to NIMH Schizophrenia Genetics Initiative data

Elizabeth Holliday, Bryan Mowry, David Chant, Dale Nyholt

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Year:

2005

Language:

english

File:

PDF, 298 KB

english, 2005

8

A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1–q22.3

Qinghe Xing, Xiangdong Chen, Mingtai Wang, Wenjie Bai, Xin Peng, Rui Gao, Shengnan Wu, Xueqing Qian, Wei Qin, Jianjun Gao, Guoyin Feng, Lin He

Journal:

Year:

2005

Language:

english

File:

PDF, 292 KB

english, 2005

9

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome

Justyna M. Szamalek, Violaine Goidts, Nadia Chuzhanova, Horst Hameister, David N. Cooper, Hildegard Kehrer-Sawatzki

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Year:

2005

Language:

english

File:

PDF, 552 KB

english, 2005

10

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

Anna Diaz-Font, Bru Cormand, Raül Santamaria, Lluïsa Vilageliu, Daniel Grinberg, Amparo Chabás

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Year:

2005

Language:

english

File:

PDF, 202 KB

english, 2005

11

A century later Farabee has his mutation

M. Elizabeth McCready, Allison Grimsey, Timothy Styer, Sarah M. Nikkel, Dennis E. Bulman

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2005

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PDF, 3 KB

2005

12

Gersen SL, Keagle MB (eds): The principles of clinical cytogenetics, 2nd edn. Humana Press, 2005 (ISBN 1-58829-300-9), hardcover, $145.00

John C. K. Barber

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Year:

2005

Language:

english

File:

PDF, 138 KB

english, 2005

13

Evolution versus constitution: differences in chromosomal inversion

S. Schmidt, U. Claussen, T. Liehr, A. Weise

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Year:

2005

Language:

english

File:

PDF, 407 KB

english, 2005

14

Evidence for a novel glaucoma locus at chromosome 3p21-22

Paul N. Baird, Simon J. Foote, David A. Mackey, Jamie Craig, Terence P. Speed, Alexandre Bureau

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Year:

2005

Language:

english

File:

PDF, 266 KB

english, 2005

15

Molecular and genealogical characterization of the R1443XBRCA1mutation in high-risk French-Canadian breast/ovarian cancer families

Hélène Vézina, Francine Durocher, Martine Dumont, Louis Houde, Csilla Szabo, Martine Tranchant, Jocelyne Chiquette, Marie Plante, Rachel Laframboise, Jean Lépine, Heli Nevanlinna, Dominique Stoppa-Lyo

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Year:

2005

Language:

english

File:

PDF, 688 KB

english, 2005

16

Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec

Vania Yotova, Damian Labuda, Ewa Zietkiewicz, Dominik Gehl, Alan Lovell, Jean-François Lefebvre, Stéphane Bourgeois, Émilie Lemieux-Blanchard, Marcin Labuda, Hélène Vézina, Louis Houde, Marc Tremblay,

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Year:

2005

Language:

english

File:

PDF, 537 KB

english, 2005

17

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

Kristen L. Deak, Abee L. Boyles, Heather C. Etchevers, Elizabeth C. Melvin, Deborah G. Siegel, Felicia L. Graham, Susan H. Slifer, David S. Enterline, Timothy M. George, Michel Vekemans, David McClay,

Journal:

Year:

2005

Language:

english

File:

PDF, 382 KB

english, 2005

18

Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3

G. S. Sellick, C. Longman, M. Brockington, I. Mahjneh, L. Sagi, K. Bushby, H. Topaloğlu, F. Muntoni, R. S. Houlston

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Year:

2005

Language:

english

File:

PDF, 232 KB

english, 2005

19

Decreased transcription of the humanFCGR2Bgene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus

Marissa C. Blank, Radu N. Stefanescu, Emi Masuda, Francesc Marti, Philip D. King, Patricia B. Redecha, Robert J. Wurzburger, Margaret G.E. Peterson, Shizuko Tanaka, Luminita Pricop

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Year:

2005

Language:

english

File:

PDF, 284 KB

english, 2005

20

Functional evaluation of Dent’s disease-causing mutations: implications for ClC-5 channel trafficking and internalization

Michael Ludwig, Jolanta Doroszewicz, Hannsjörg W. Seyberth, Arend Bökenkamp, Bernd Balluch, Matti Nuutinen, Boris Utsch, Siegfried Waldegger

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Year:

2005

Language:

english

File:

PDF, 483 KB

english, 2005

21

Haplotype structure and phylogenetic shadowing of a hypervariable region in theCAPN10gene

Vanessa J. Clark, Nancy J. Cox, Molly Hammond, Craig L. Hanis, Anna Di Rienzo

Journal:

Year:

2005

Language:

english

File:

PDF, 348 KB

english, 2005

22

Genetic dissection of gene expression observed in whole blood samples of elderly Danish twins

Qihua Tan, Kaare Christensen, Lene Christiansen, Henrik Frederiksen, Lise Bathum, Jesper Dahlgaard, Torben A. Kruse

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Year:

2005

Language:

english

File:

PDF, 361 KB

english, 2005

23

The ratio of maternal to paternal UPD associated with recessive diseases

Angela M. Vianna-Morgante

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Year:

2005

Language:

english

File:

PDF, 154 KB

english, 2005

24

The development of human genetics in Germany; a personal view

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Year:

2005

Language:

english

File:

PDF, 183 KB

english, 2005

25

Eric Lander, David Page, Aravinda Chakravarti (eds): Annual review of genomics and human genetics, volume 5. Annual Reviews, Palo Alto, 2004 (ISBN 0-8243-3705-0), hardcover

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Year:

2005

Language:

english

File:

PDF, 96 KB

english, 2005

26

Acknowledgement to Referees 2004

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Year:

2005

Language:

english

File:

PDF, 98 KB

english, 2005

27

Human Gene Mutations

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Year:

2005

Language:

english

File:

PDF, 155 KB

english, 2005

28

Fetal DNA detection in maternal plasma throughout gestation

Silvia Galbiati, Maddalena Smid, Dania Gambini, Augusto Ferrari, Gabriella Restagno, Elsa Viora, Mario Campogrande, Simona Bastonero, Marco Pagliano, Stefano Calza, Maurizio Ferrari, Laura Cremonesi

Journal:

Year:

2005

Language:

english

File:

PDF, 239 KB

english, 2005