Volume 73; Issue 3

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Annals of Human Genetics
Volume 73; Issue 3

Annals of Human Genetics

Volume 73; Issue 3

1

Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

Lúcia Inês Macedo-Souza, Fernando Kok, Silvana Santos, Luciana Licinio, Karina Lezirovitz, Natale Cavaçana, Clarissa Bueno, Simone Amorim, André Pessoa, Zodja Graciani, Áurea Ferreira, Abdísio Prazere

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 169 KB

english, 2009

2

New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas

Wolfram Heinritz, Ulrike Hüffmeier, Sibylle Strenge, Bianca Miterski, Christiane Zweier, Steffen Leinung, Axel Bohring, Beate Mitulla, Usha Peters, Ursula G. Froster

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 202 KB

english, 2009

3

CALHM1 Polymorphism is not Associated with Late-onset Alzheimer Disease

Gary W. Beecham, Nathalie Schnetz-Boutaud, Jonathan L. Haines, Margaret A. Pericak-Vance

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 69 KB

english, 2009

4

Genetic Admixture in Brazilians Exposed to Infection with Leishmania chagasi

Nicholas A. Ettinger, Priya Duggal, Regina F. S. Braz, Eliana T. Nascimento, Terri H. Beaty, Selma M. B. Jeronimo, Richard D. Pearson, Jenefer M. Blackwell, Lina Moreno, Mary E. Wilson

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 4.37 MB

english, 2009

5

Evaluating the Ability of Tree-Based Methods and Logistic Regression for the Detection of SNP-SNP Interaction

M. García-Magariños, I. López-de-Ullibarri, R. Cao, A. Salas

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 137 KB

english, 2009

6

High-resolution Melting Facilitates Mutation Screening of PYGM in Patients with McArdle Disease

Morten Duno, Ros Quinlivan, John Vissing, Marianne Schwartz

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 197 KB

english, 2009

7

SNP Discovery and Haplotype Analysis in the Segmentally Duplicated DRD5 Coding Region

Donna J. E. Housley, Molly Nikolas, Patrick J. Venta, Kathrine A. Jernigan, Irwin D. Waldman, Joel T. Nigg, Karen H. Friderici

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 233 KB

english, 2009

8

Using Case-parent Triads to Estimate Relative Risks Associated with a Candidate Haplotype

Min Shi, David M. Umbach, Clarice R. Weinberg

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 225 KB

english, 2009

9

The Cost Effectiveness of Duplicate Genotyping for Testing Genetic Association

Nathan Tintle, Derek Gordon, Dirk Van Bruggen, Stephen Finch

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 136 KB

english, 2009

10

Refined Geographic Distribution of the Oriental ALDH2*504Lys (nee 487Lys) Variant

Hui Li, Svetlana Borinskaya, Kimio Yoshimura, Nina Kal’ina, Andrey Marusin, Vadim A. Stepanov, Zhendong Qin, Shagufta Khaliq, Mi-Young Lee, Yajun Yang, Aisha Mohyuddin, David Gurwitz, Syed Qasim Mehdi

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 667 KB

english, 2009

11

Revisiting MSUD in Portuguese Gypsies: Evidence for a Founder Mutation and for a Mutational Hotspot within the BCKDHA Gene

Sofia Quental, Alfredo Gusmão, Pilar Rodríguez-Pombo, Magdalena Ugarte, Laura Vilarinho, António Amorim, Maria J. Prata

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 120 KB

english, 2009

12

Inter- and Extra-Indian Admixture and Genetic Diversity in Reunion Island Revealed by Analysis of Mitochondrial DNA

Vincent Dubut, Pascal Murail, Nicolas Pech, Marie-Dominique Thionville, François Cartault

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 460 KB

english, 2009

13

A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

Deqiong Ma, Daria Salyakina, James M. Jaworski, Ioanna Konidari, Patrice L. Whitehead, Ashley N. Andersen, Joshua D. Hoffman, Susan H. Slifer, Dale J. Hedges, Holly N. Cukier, Anthony J. Griswold, Jac

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 322 KB

english, 2009