Volume 70; Issue 5

The American Journal of Human Genetics

Volume 70; Issue 5

1

PARK3 Influences Age at Onset in Parkinson Disease: A Genome Scan in the GenePD Study

Anita L. DeStefano, Mark F. Lew, Lawrence I. Golbe, Margery H. Mark, Alice M. Lazzarini, Mark Guttman, Erwin Montgomery, Cheryl H. Waters, Carlos Singer, Ray L. Watts, Lillian J. Currie, G. Frederick

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 354 KB

english, 2002

2

Y-Chromosomal DNA Variation in Pakistan

Raheel Qamar, Qasim Ayub, Aisha Mohyuddin, Agnar Helgason, Kehkashan Mazhar, Atika Mansoor, Tatiana Zerjal, Chris Tyler-Smith, S. Qasim Mehdi

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.38 MB

english, 2002

3

Geographic and Haplotype Structure of Candidate Type 2 Diabetes-Susceptibility Variants at the Calpain-10 Locus

Stephanie M. Fullerton, Angelika Bartoszewicz, Gustavo Ybazeta, Yukio Horikawa, Graeme I. Bell, Kenneth K. Kidd, Nancy J. Cox, Richard R. Hudson, Anna Di Rienzo

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 518 KB

english, 2002

4

FOXP2 Is Not a Major Susceptibility Gene for Autism or Specific Language Impairment

D.F. Newbury, E. Bonora, J.A. Lamb, S.E. Fisher, C.S.L. Lai, G. Baird, L. Jannoun, V. Slonims, C.M. Stott, M.J. Merricks, P.F. Bolton, A.J. Bailey, A.P. Monaco

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 812 KB

english, 2002

5

Genetic Dissection of the Human Leukocyte Antigen Region by Use of Haplotypes of Tasmanians with Multiple Sclerosis

Justin P. Rubio, Melanie Bahlo, Helmut Butzkueven, Ingrid A.F. van der Mei, Michèle M. Sale, Joanne L. Dickinson, Patricia Groom, Laura J. Johnson, Rex D. Simmons, Brian Tait, Mike Varney, Bruce Taylo

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.70 MB

english, 2002

6

Reduced-Median-Network Analysis of Complete Mitochondrial DNA Coding-Region Sequences for the Major African, Asian, and European Haplogroups

Corinna Herrnstadt, Joanna L. Elson, Eoin Fahy, Gwen Preston, Douglass M. Turnbull, Christen Anderson, Soumitra S. Ghosh, Jerrold M. Olefsky, M. Flint Beal, Robert E. Davis, Neil Howell

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 785 KB

english, 2002

7

A Genomewide Linkage Scan for Quantitative-Trait Loci for Obesity Phenotypes

Hong-Wen Deng, Hongyi Deng, Yong-Jun Liu, Yao-Zhong Liu, Fu-Hua Xu, Hui Shen, Theresa Conway, Jin-Long Li, Qing-Yang Huang, K.M. Davies, Robert R. Recker

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 892 KB

english, 2002

8

Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60

Jens Jacob Hansen, Alexandra Dürr, Isabelle Cournu-Rebeix, Costa Georgopoulos, Debbie Ang, Marit Nyholm Nielsen, Claire-Sophie Davoine, Alexis Brice, Bertrand Fontaine, Niels Gregersen, Peter Bross

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 538 KB

english, 2002

9

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

Gabriele Richard, Fatima Rouan, Colin E. Willoughby, Nkecha Brown, Pil Chung, Markku Ryynänen, Ethylin Wang Jabs, Sherri J. Bale, John J. DiGiovanna, Jouni Uitto, Laura Russell

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 595 KB

english, 2002

10

Genome Scans Provide Evidence for Low-HDL-C Loci on Chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish Families

Aino Soro, Päivi Pajukanta, Heidi E. Lilja, Kati Ylitalo, Tero Hiekkalinna, Markus Perola, Rita M. Cantor, Jorma S.A. Viikari, Marja-Riitta Taskinen, Leena Peltonen

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 254 KB

english, 2002

11

Quantitative-Trait Loci on Chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 Control Variation in Levels of T and B Lymphocyte Subpopulations

M.A. Hall, P.J. Norman, B. Thiel, H. Tiwari, A. Peiffer, R.W. Vaughan, S. Prescott, M. Leppert, N.J. Schork, J.S. Lanchbury

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 678 KB

english, 2002

12

X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28

Kimberly A. Hahn, Gajja S. Salomons, Darci Tackels-Horne, Tim C. Wood, Harold A. Taylor, Richard J. Schroer, Herbert A. Lubs, Cornelis Jakobs, Rick L. Olson, Kenton R. Holden, Roger E. Stevenson, Char

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 405 KB

english, 2002

13

Revised 14.7-cM Locus for the Hyperparathyroidism–Jaw Tumor Syndrome Gene, HRPT2

Maurine R. Hobbs, Irving B. Rosen, Charles E. Jackson

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 41 KB

english, 2002

14

The TRIM37 Gene Encodes a Peroxisomal RING-B-Box-Coiled-Coil Protein: Classification of Mulibrey Nanism as a New Peroxisomal Disorder

Jukka Kallijärvi, Kristiina Avela, Marita Lipsanen-Nyman, Ismo Ulmanen, Anna-Elina Lehesjoki

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 909 KB

english, 2002

15

A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes

Fulvio Cruciani, Piero Santolamazza, Peidong Shen, Vincent Macaulay, Pedro Moral, Antonel Olckers, David Modiano, Susan Holmes, Giovanni Destro-Bisol, Valentina Coia, Douglas C. Wallace, Peter J. Oefn

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 475 KB

english, 2002

16

Common Deletion of SMAD4 in Juvenile Polyposis Is a Mutational Hotspot

James R. Howe, Jason Shellnut, Brian Wagner, John C. Ringold, Mohamed G. Sayed, Abul F. Ahmed, Patrick M. Lynch, Christopher I. Amos, Pertti Sistonen, Lauri A. Aaltonen

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 149 KB

english, 2002

17

Genomewide Linkage Analysis of Quantitative Spirometric Phenotypes in Severe Early-Onset Chronic Obstructive Pulmonary Disease

Edwin K. Silverman, Lyle J. Palmer, Jonathan D. Mosley, Matthew Barth, Jody M. Senter, Alison Brown, Jeffrey M. Drazen, David J. Kwiatkowski, Harold A. Chapman, Edward J. Campbell, Michael A. Province

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 2.00 MB

english, 2002

18

Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36

Maria J. Schuermann, Edgar Otto, Achim Becker, Katrin Saar, Franz Rüschendorf, Bettine C. Polak, Sirpa Ala-Mello, Julia Hoefele, Alexander Wiedensohler, Maria Haller, Heymut Omran, Peter Nürnberg, Fri

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.78 MB

english, 2002

19

A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family

Eran Pras, Etgar Levy-Nissenbaum, Tangiz Bakhan, Hadas Lahat, Ehud Assia, Noa Geffen-Carmi, Moshe Frydman, Boleslaw Goldman, Elon Pras

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 406 KB

english, 2002

20

A Combined Analysis of Genomewide Linkage Scans for Body Mass Index, from the National Heart, Lung, and Blood Institute Family Blood Pressure Program

Xiaodong Wu, Richard S. Cooper, Ingrid Borecki, Craig Hanis, Molly Bray, Cora E. Lewis, Xiaofeng Zhu, Donghui Kan, Amy Luke, David Curb

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 638 KB

english, 2002

21

Genomic Disorders on 22q11

Heather E. McDermid, Bernice E. Morrow

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 351 KB

english, 2002

22

Increased Rate of Twins among Affected Sibling Pairs with Autism

Catalina Betancur, Marion Leboyer, Christopher Gillberg

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 46 KB

english, 2002

23

ERRATUM

Journal:

The American Journal of Human Genetics

Year:

2002

File:

PDF, 17 KB

2002

24

The Peopling of the Americas: A Second Major Migration?

Eduardo Tarazona-Santos, Fabrício R. Santos

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 53 KB

english, 2002

25

Reply to Tarazona-Santos and Santos

Jeffrey T. Lell, Rem I. Sukernik, Douglas C. Wallace

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 34 KB

english, 2002

26

Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia

Eri Arikawa-Hirasawa, Alexander H. Le, Ichizo Nishino, Ikuya Nonaka, Nicola C. Ho, Clair A. Francomano, Prasanthi Govindraj, John R. Hassell, Joseph M. Devaney, Jürgen Spranger, Roger E. Stevenson, Su

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 783 KB

english, 2002

27

Generalized T2 Test for Genome Association Studies

Momiao Xiong, Jinying Zhao, Eric Boerwinkle

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 361 KB

english, 2002

28

High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization

Joris A. Veltman, Eric F.P.M. Schoenmakers, Bert H. Eussen, Irene Janssen, Gerard Merkx, Brigitte van Cleef, Conny M. van Ravenswaaij, Han G. Brunner, Dominique Smeets, Ad Geurts van Kessel

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 2.93 MB

english, 2002

29

Early Onset of Severe Familial Amyotrophic Lateral Sclerosis with a SOD-1 Mutation: Potential Impact of CNTF as a Candidate Modifier Gene

Ralf Giess, Bettina Holtmann, Massimiliano Braga, Tiemo Grimm, Bertram Müller-Myhsok, Klaus V. Toyka, Michael Sendtner

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 519 KB

english, 2002

30

PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa, Xiaoying Hou, Thomas Eggermann, Zhiyong Ren, Carsten Bergmann, Jan Senderek, Ernie Esquivel, Raoul Zeltner, Sabine Rudnik-Schöneborn, Michael Mrug, Wil

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 867 KB

english, 2002

31

Evidence for Linkage and Association with Reading Disability, on 6p21.3-22

D.E. Kaplan, J. Gayán, J. Ahn, T.-W. Won, D. Pauls, R.K. Olson, J.C. DeFries, F. Wood, B.F. Pennington, G.P. Page, S.D. Smith, J.R. Gruen

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 522 KB

english, 2002

32

Germline Alterations of the RNASEL Gene, a Candidate HPC1 Gene at 1q25, in Patients and Families with Prostate Cancer

Annika Rökman, Tarja Ikonen, Eija H. Seppälä, Nina Nupponen, Ville Autio, Nina Mononen, Joan Bailey-Wilson, Jeffrey Trent, John Carpten, Mika P. Matikainen, Pasi A. Koivisto, Teuvo L.J. Tammela, Olli-

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 167 KB

english, 2002

33

Announcements

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 43 KB

english, 2002

34

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 46 KB

english, 2002

35

A Genomewide Scan for Loci Involved in Attention-Deficit/Hyperactivity Disorder

Simon E. Fisher, Clyde Francks, James T. McCracken, James J. McGough, Angela J. Marlow, I. Laurence MacPhie, Dianne F. Newbury, Lori R. Crawford, Christina G.S. Palmer, J. Arthur Woodward, Melissa Del

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.43 MB

english, 2002

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