Volume 79; Issue 5

The American Journal of Human Genetics

Volume 79; Issue 5

1

This Month in the Journal

Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 50 KB

english, 2006

2

Announcements

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 58 KB

english, 2006

3

Nucleotide-Resolution Mapping of Topoisomerase-Mediated and Apoptotic DNA Strand Scissions at or near an MLL Translocation Hotspot

Marc-Edouard Mirault, Patrick Boucher, Alain Tremblay

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.53 MB

english, 2006

4

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Martin Hřebíček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Vi

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.17 MB

english, 2006

5

Generalized Genomic Distance–Based Regression Methodology for Multilocus Association Analysis

Jennifer Wessel, Nicholas J. Schork

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 366 KB

english, 2006

6

A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak-Toydemir, Patrycja A. Krakowiak, Lynn B. Jorde, Frank G. Whitby, Nicola Longo, David H. Viskochil, John C. Carey, Michael J. Bamshad

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.00 MB

english, 2006

7

Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

Jan A.M. Smeitink, Orly Elpeleg, Hana Antonicka, Heleen Diepstra, Ann Saada, Paulien Smits, Florin Sasarman, Gert Vriend, Jasmine Jacob-Hirsch, Avraham Shaag, Gideon Rechavi, Brigitte Welling, Jürgen

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 790 KB

english, 2006

8

Multipoint Linkage Analysis with Many Multiallelic or Dense Diallelic Markers: Markov Chain–Monte Carlo Provides Practical Approaches for Genome Scans on General Pedigrees

Ellen M. Wijsman, Joseph H. Rothstein, Elizabeth A. Thompson

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 413 KB

english, 2006

9

Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

Isabella Wimplinger, Manuela Morleo, Georg Rosenberger, Daniela Iaconis, Ulrike Orth, Peter Meinecke, Israela Lerer, Andrea Ballabio, Andreas Gal, Brunella Franco, Kerstin Kutsche

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.43 MB

english, 2006

10

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies

Haiyan Zhou, Martin Brockington, Heinz Jungbluth, David Monk, Philip Stanier, Caroline A. Sewry, Gudrun E. Moore, Francesco Muntoni

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 659 KB

english, 2006

11

Test for Interaction between Two Unlinked Loci

Jinying Zhao, Li Jin, Momiao Xiong

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 451 KB

english, 2006

12

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

Shareef Khateeb, Hagit Flusser, Rivka Ofir, Ilan Shelef, Ginat Narkis, Gideon Vardi, Zamir Shorer, Rachel Levy, Aharon Galil, Khalil Elbedour, Ohad S. Birk

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 559 KB

english, 2006

13

Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement

Martin Konrad, André Schaller, Dominik Seelow, Amit V. Pandey, Siegfried Waldegger, Annegret Lesslauer, Helga Vitzthum, Yoshiro Suzuki, John M. Luk, Christian Becker, Karl P. Schlingmann, Marcel Schmi

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 2.76 MB

english, 2006

14

A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination

Sarah J. Lindsay, Mehrdad Khajavi, James R. Lupski, Matthew E. Hurles

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 731 KB

english, 2006

15

What is FASEB, Anyway?

Joann A. Boughman

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

16

Detecting Disease-Causing Mutations in the Human Genome by Haplotype Matching

David H. Spencer, Kerry L. Bubb, Maynard V. Olson

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 327 KB

english, 2006

17

Mapping Trait Loci by Use of Inferred Ancestral Recombination Graphs

Mark J. Minichiello, Richard Durbin

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 745 KB

english, 2006

18

Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia

Lars Feuk, Aino Kalervo, Marita Lipsanen-Nyman, Jennifer Skaug, Kazuhiko Nakabayashi, Brenda Finucane, Danielle Hartung, Micheil Innes, Batsheva Kerem, Małgorzata J. Nowaczyk, Joseph Rivlin, Wendy Rob

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 208 KB

english, 2006

19

Analysis of High-Resolution HapMap of DTNBP1 (Dysbindin) Suggests No Consistency between Reported Common Variant Associations and Schizophrenia

Mousumi Mutsuddi, Derek W. Morris, Skye G. Waggoner, Mark J. Daly, Edward M. Scolnick, Pamela Sklar

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 317 KB

english, 2006

20

Mutation-Positive and Mutation-Negative Patients with Cowden and Bannayan-Riley-Ruvalcaba Syndromes Associated with Distinct 10q Haplotypes

Marcus G. Pezzolesi, Yan Li, Xiao-Ping Zhou, Robert Pilarski, Lei Shen, Charis Eng

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 429 KB

english, 2006

21

Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy

Katharina Agnes Wycisk, Christina Zeitz, Silke Feil, Mariana Wittmer, Ursula Forster, John Neidhardt, Bernd Wissinger, Eberhart Zrenner, Robert Wilke, Susanne Kohl, Wolfgang Berger

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 414 KB

english, 2006

22

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated with Mutations in the Desmosomal Gene Desmocollin-2

Petros Syrris, Deirdre Ward, Alison Evans, Angeliki Asimaki, Estelle Gandjbakhch, Srijita Sen-Chowdhry, William J. McKenna

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 186 KB

english, 2006

23

Molecular Population Genetics of the Gene Encoding the Human Fertilization Protein Zonadhesin Reveals Rapid Adaptive Evolution

Joe Gasper, Willie J. Swanson

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 307 KB

english, 2006

24

Erratum

Journal:

The American Journal of Human Genetics

Year:

2006

File:

PDF, 30 KB

2006

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