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Volume 68(6);  2001 Jun

This Month in the Journal

This Month in the Journal
Kathryn Beauregard
Am J Hum Genet. 2001 Jun; 68(6): i–ii.
PMCID:
PMC1226147
Article PubReader PDF–48KCite

Invited Editorial

The Mitochondrial Gene Tree Comes of Age
Martin Richards, Vincent Macaulay
Am J Hum Genet. 2001 Jun; 68(6): 1315–1320. Published online 2001 May 10. doi: 10.1086/320615
PMCID:
PMC1226117
Article PubReader PDF–69KCite

Articles

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK
Ernst Reichenberger, Valdenize Tiziani, Shoji Watanabe, Lucy Park, Yasuyoshi Ueki, Carla Santanna, Scott T. Baur, Rita Shiang, Dorothy K. Grange, Peter Beighton, Jessica Gardner, Herman Hamersma, Sean Sellars, Rajkumar Ramesar, Andrew C. Lidral, Annmarie Sommer, Cassio M. Raposo do Amaral, Robert J. Gorlin, John B. Mulliken, Bjorn R. Olsen
Am J Hum Genet. 2001 Jun; 68(6): 1321–1326. Published online 2001 Apr 16. doi: 10.1086/320612
PMCID:
PMC1226118
Article PubReader PDF–261KCite
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
Lieve Claes, Jurgen Del-Favero, Berten Ceulemans, Lieven Lagae, Christine Van Broeckhoven, Peter De Jonghe
Am J Hum Genet. 2001 Jun; 68(6): 1327–1332. Published online 2001 May 15. doi: 10.1086/320609
PMCID:
PMC1226119
Article PubReader PDF–220KCite
Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene
Biljana Ilkovski, Sandra T. Cooper, Kristen Nowak, Monique M. Ryan, Nan Yang, Christina Schnell, Hayley J. Durling, Laurence G. Roddick, Ian Wilkinson, Andrew J. Kornberg, Kevin J. Collins, Geoff Wallace, Peter Gunning, Edna C. Hardeman, Nigel G. Laing, Kathryn N. North
Am J Hum Genet. 2001 Jun; 68(6): 1333–1343. Published online 2001 Apr 27. doi: 10.1086/320605
PMCID:
PMC1226120
Article PubReader PDF–1.5MCite
Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency
Paule Bénit, Dominique Chretien, Nohman Kadhom, Pascale de Lonlay-Debeney, Valérie Cormier-Daire, Aguinaldo Cabral, Sylviane Peudenier, Pierre Rustin, Arnold Munnich, Agnès Rötig
Am J Hum Genet. 2001 Jun; 68(6): 1344–1352. Published online 2001 May 7. doi: 10.1086/320603
PMCID:
PMC1226121
Article PubReader PDF–182KCite
Missense Mutations in the N-Terminal Domain of Human Phenylalanine Hydroxylase Interfere with Binding of Regulatory Phenylalanine
Torben Gjetting, Marie Petersen, Per Guldberg, Flemming Güttler
Am J Hum Genet. 2001 Jun; 68(6): 1353–1360. Published online 2001 Apr 20. doi: 10.1086/320604
PMCID:
PMC1226122
Article PubReader PDF–670KCite
Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1
Xiaofeng Sun, David L. Marks, Walter D. Park, Christine L. Wheatley, Vishwajeet Puri, John F. O’Brien, Daniel L. Kraft, Patrick A. Lundquist, Marc C. Patterson, Richard E. Pagano, Karen Snow
Am J Hum Genet. 2001 Jun; 68(6): 1361–1372. Published online 2001 May 9. doi: 10.1086/320599
PMCID:
PMC1226123
Article PubReader PDF–287KCite
Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop
Gilles Millat, Christophe Marçais, Catherine Tomasetto, Karim Chikh, Anthony H. Fensom, Klaus Harzer, David A. Wenger, K. Ohno, Marie T. Vanier
Am J Hum Genet. 2001 Jun; 68(6): 1373–1385. Published online 2001 May 1. doi: 10.1086/320606
PMCID:
PMC1226124
Article PubReader PDF–189KCite
The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda
A. K. Gedeon, G. E. Tiller, M. Le Merrer, S. Heuertz, L. Tranebjaerg, D. Chitayat, S. Robertson, I. A. Glass, R. Savarirayan, W. G. Cole, D. L. Rimoin, B. G. Kousseff, H. Ohashi, B. Zabel, A. Munnich, J. Gecz, J. C. Mulley
Am J Hum Genet. 2001 Jun; 68(6): 1386–1397. Published online 2001 May 8. doi: 10.1086/320592
PMCID:
PMC1226125
Article PubReader PDF–310KCite
A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda
George E. Tiller, Vickie L. Hannig, Damon Dozier, Laura Carrel, Karrie C. Trevarthen, William R. Wilcox, Stefan Mundlos, Jonathan L. Haines, Agi K. Gedeon, Jozef Gecz
Am J Hum Genet. 2001 Jun; 68(6): 1398–1407. Published online 2001 Apr 26. doi: 10.1086/320594
PMCID:
PMC1226126
Article PubReader PDF–574KCite
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency
Brage Storstein Andresen, Steve F. Dobrowolski, Linda O'Reilly, Joseph Muenzer, Shawn E. McCandless, Dianne M. Frazier, Szabolcs Udvari, Peter Bross, Inga Knudsen, Rick Banas, Donald H. Chace, Paul Engel, Edwin W. Naylor, Niels Gregersen
Am J Hum Genet. 2001 Jun; 68(6): 1408–1418. Published online 2001 May 8. doi: 10.1086/320602
PMCID:
PMC1226127
Article PubReader PDF–163KCite
Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition
Jules G. Leroy, Raili Seppala, Marjan Huizing, George Dacremont, Helena De Simpel, Rudy N. Van Coster, Edwin Orvisky, Donna M. Krasnewich, William A. Gahl
Am J Hum Genet. 2001 Jun; 68(6): 1419–1427. Published online 2001 Apr 18. doi: 10.1086/320598
PMCID:
PMC1226128
Article PubReader PDF–261KCite
Effects of 5′ Regulatory-Region Polymorphisms on Paraoxonase-Gene (PON1) Expression
Victoria H. Brophy, Rachel L. Jampsa, James B. Clendenning, Laura A. McKinstry, Gail P. Jarvik, Clement E. Furlong
Am J Hum Genet. 2001 Jun; 68(6): 1428–1436. Published online 2001 May 2. doi: 10.1086/320600
PMCID:
PMC1226129
Article PubReader PDF–137KCite
Genomewide Screen and Identification of Gene-Gene Interactions for Asthma-Susceptibility Loci in Three U.S. Populations: Collaborative Study on the Genetics of Asthma
Jianfeng Xu, Deborah A. Meyers, Carole Ober, Malcolm N. Blumenthal, Beverly Mellen, Kathleen C. Barnes, Richard A. King, Lucille A. Lester, Timothy D. Howard, Julian Solway, Carl D. Langefeld, Terri H. Beaty, Stephen S. Rich, Eugene R. Bleecker, Nancy J. Cox, the Collaborative Study on the Genetics of Asthma
Am J Hum Genet. 2001 Jun; 68(6): 1437–1446. Published online 2001 May 10. doi: 10.1086/320589
PMCID:
PMC1226130
Article PubReader PDF–190KCite
The Effect That Genotyping Errors Have on the Robustness of Common Linkage-Disequilibrium Measures
Joshua M. Akey, Kun Zhang, Momiao Xiong, Peter Doris, Li Jin
Am J Hum Genet. 2001 Jun; 68(6): 1447–1456. Published online 2001 May 16. doi: 10.1086/320607
PMCID:
PMC1226131
Article PubReader PDF–294KCite
Evaluation of Candidate Genes in Case-Control Studies: A Statistical Method to Account for Related Subjects
S. L. Slager, D. J. Schaid
Am J Hum Genet. 2001 Jun; 68(6): 1457–1462. Published online 2001 May 15. doi: 10.1086/320608
PMCID:
PMC1226132
Article PubReader PDF–95KCite
The Power to Detect Linkage Disequilibrium with Quantitative Traits in Selected Samples
Gonçalo R. Abecasis, William O. C. Cookson, Lon R. Cardon
Am J Hum Genet. 2001 Jun; 68(6): 1463–1474. Published online 2001 May 8. doi: 10.1086/320590
PMCID:
PMC1226133
Article PubReader PDF–221KCite
Phylogenetic Network for European mtDNA
Saara Finnilä, Mervi S. Lehtonen, Kari Majamaa
Am J Hum Genet. 2001 Jun; 68(6): 1475–1484. Published online 2001 May 10. doi: 10.1086/320591
PMCID:
PMC1226134
Article PubReader PDF–267KCite
Genetic Differentiation in South Amerindians Is Related to Environmental and Cultural Diversity: Evidence from the Y Chromosome
Eduardo Tarazona-Santos, Denise R. Carvalho-Silva, Davide Pettener, Donata Luiselli, Gian Franco De Stefano, Cristina Martinez Labarga, Olga Rickards, Chris Tyler-Smith, Sérgio D. J. Pena, Fabrício R. Santos
Am J Hum Genet. 2001 Jun; 68(6): 1485–1496. Published online 2001 May 15. doi: 10.1086/320601
PMCID:
PMC1226135
Article PubReader PDF–216KCite

Reports

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome
Gajja S. Salomons, Silvy J. M. van Dooren, Nanda M. Verhoeven, Kim M. Cecil, William S. Ball, Ton J. Degrauw, Cornelis Jakobs
Am J Hum Genet. 2001 Jun; 68(6): 1497–1500. Published online 2001 Apr 20. doi: 10.1086/320595
PMCID:
PMC1226136
Article PubReader PDF–182KCite
The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression
Laura B. K. Herzing, Soo-Jeong Kim, Edwin H. Cook, Jr., David H. Ledbetter
Am J Hum Genet. 2001 Jun; 68(6): 1501–1505. Published online 2001 May 11. doi: 10.1086/320616
PMCID:
PMC1226137
Article PubReader PDF–209KCite
Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria
Miroslav Janošík, Jana Oliveriusová, Bohumila Janošíková, Jitka Sokolová, Eva Kraus, Jan P. Kraus, Viktor Kožich
Am J Hum Genet. 2001 Jun; 68(6): 1506–1513. Published online 2001 May 15. doi: 10.1086/320597
PMCID:
PMC1226138
Article PubReader PDF–223KCite
Evidence for a Susceptibility Gene for Autism on Chromosome 2 and for Genetic Heterogeneity
Joseph D. Buxbaum, Jeremy M. Silverman, Christopher J. Smith, Mario Kilifarski, Jennifer Reichert, Eric Hollander, Brian A. Lawlor, Michael Fitzgerald, David A. Greenberg, Kenneth L. Davis
Am J Hum Genet. 2001 Jun; 68(6): 1514–1520. Published online 2001 May 14. doi: 10.1086/320588
Correction in:
Am J Hum Genet. 2001 Aug; 69(2): 470.
PMCID:
PMC1226139
Article PubReader PDF–113KCite
Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity
Michela Malacarne, Elena Gennaro, Francesca Madia, Sarah Pozzi, Daniela Vacca, Baldassare Barone, Bernardo dalla Bernardina, Amedeo Bianchi, Paolo Bonanni, Pasquale De Marco, Antonio Gambardella, Lucio Giordano, Maria Luisa Lispi, Antonino Romeo, Enrica Santorum, Francesca Vanadia, Marilena Vecchi, Pierangelo Veggiotti, Federico Vigevano, Franco Viri, Franca Dagna Bricarelli, Federico Zara
Am J Hum Genet. 2001 Jun; 68(6): 1521–1526. Published online 2001 Apr 20. doi: 10.1086/320596
PMCID:
PMC1226140
Article PubReader PDF–139KCite
Equivalence between Haseman-Elston and Variance-Components Linkage Analyses for Sib Pairs
P. C. Sham, S. Purcell
Am J Hum Genet. 2001 Jun; 68(6): 1527–1532. Published online 2001 May 14. doi: 10.1086/320593
PMCID:
PMC1226141
Article PubReader PDF–111KCite

Letters to the Editor

Is Breast Cancer Part of the Tumor Spectrum of Hereditary Nonpolyposis Colorectal Cancer?
H. F. A. Vasen, H. Morreau, J. W. R. Nortier
Am J Hum Genet. 2001 Jun; 68(6): 1533–1534. doi: 10.1086/320610
PMCID:
PMC1226142
Article PubReader PDF–61KCite
Reply to Vasen et al.
Rodney J. Scott
Am J Hum Genet. 2001 Jun; 68(6): 1534–1535.
PMCID:
PMC1226143
Article PubReader PDF–61KCite
Mitochondria and the Quality of Human Gametes
Francesco Giannelli
Am J Hum Genet. 2001 Jun; 68(6): 1535–1537. doi: 10.1086/320613
PMCID:
PMC1226144
Article PubReader PDF–61KCite

Announcement

Announcements
Am J Hum Genet. 2001 Jun; 68(6): 1538–1541.
PMCID:
PMC1226145
Article PubReader PDF–46KCite

Erratum

Erratum
Am J Hum Genet. 2001 Jun; 68(6): 1542.
Corrects:
Am J Hum Genet. 2000 Jan; 66(1): 187–195.
PMCID:
PMC1226146
Correction PubReader PDF–28KCite
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics