Volume 72; Issue 5

The American Journal of Human Genetics

Volume 72; Issue 5

1

Molecular Analysis of Hereditary Nonpolyposis Colorectal Cancer in the United States: High Mutation Detection Rate among Clinically Selected Families and Characterization of an American Founder Genomic Deletion of the MSH2 Gene

Anja Wagner, Alicia Barrows, Juul Th. Wijnen, Heleen van der Klift, Patrick F. Franken, Paul Verkuijlen, Hidewaki Nakagawa, Marjan Geugien, Shantie Jaghmohan-Changur, Cor Breukel, Hanne Meijers-Heijbo

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 303 KB

english, 2003

2

Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements

Paweł Stankiewicz, Christine J. Shaw, Jason D. Dapper, Keiko Wakui, Lisa G. Shaffer, Marjorie Withers, Leah Elizondo, Sung-Sup Park, James R. Lupski

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.57 MB

english, 2003

3

Elevated Risk for MPNST in NF1 Microdeletion Patients

T. De Raedt, H. Brems, P. Wolkenstein, D. Vidaud, S. Pilotti, F. Perrone, V. Mautner, S. Frahm, R. Sciot, E. Legius

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 69 KB

english, 2003

4

Polymorphisms at the G72/G30 Gene Locus, on 13q33, Are Associated with Bipolar Disorder in Two Independent Pedigree Series

Eiji Hattori, Chunyu Liu, Judith A. Badner, Tom I. Bonner, Susan L. Christian, Manjula Maheshwari, Sevilla D. Detera-Wadleigh, Richard A. Gibbs, Elliot S. Gershon

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 271 KB

english, 2003

5

PowerTrim: An Automated Decision Support Algorithm for Preprocessing Family-Based Genetic Data

Tricia A. Thornton, Jonathan L. Haines

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 44 KB

english, 2003

6

In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene

Christine Gicquel, Véronique Gaston, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Antoine Flahault, Yves Le Bouc

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 94 KB

english, 2003

7

Down Syndrome: Visions for the 21st Century

Don C. Van Dyke

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 23 KB

english, 2003

8

The Emperor’s New Methods

M. Anne Spence, David A. Greenberg, Susan E. Hodge, Veronica J. Vieland

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 59 KB

english, 2003

9

Native American Y Chromosomes in Polynesia: The Genetic Impact of the Polynesian Slave Trade

Matthew E. Hurles, Emma Maund, Jane Nicholson, Elena Bosch, Colin Renfrew, Bryan C. Sykes, Mark A. Jobling

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 387 KB

english, 2003

10

Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies

A. Antoniou, P.D.P. Pharoah, S. Narod, H.A. Risch, J.E. Eyfjord, J.L. Hopper, N. Loman, H. Olsson, O. Johannsson, Å. Borg, B. Pasini, P. Radice, S. Manoukian, D.M. Eccles, N. Tang, E. Olah, H. Anton-C

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 524 KB

english, 2003

11

Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

H. Azzedine, A. Bolino, T. Taïeb, N. Birouk, M. Di Duca, A. Bouhouche, S. Benamou, A. Mrabet, T. Hammadouche, T. Chkili, R. Gouider, R. Ravazzolo, A. Brice, J. Laporte, E. LeGuern

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.43 MB

english, 2003

12

KLOTHO Allele Status and the Risk of Early-Onset Occult Coronary Artery Disease

Dan E. Arking, Diane M. Becker, Lisa R. Yanek, Daniele Fallin, Daniel P. Judge, Taryn F. Moy, Lewis C. Becker, Harry C. Dietz

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 486 KB

english, 2003

13

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih-Queen Lee-Lin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou, Lefkos T. Middleton, Kumaraswamy

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 687 KB

english, 2003

14

Past Exposure to Densely Ionizing Radiation Leaves a Unique Permanent Signature in the Genome

M. Prakash Hande, Tamara V. Azizova, Charles R. Geard, Ludmilla E. Burak, Catherine R. Mitchell, Valentin F. Khokhryakov, Evgeny K. Vasilenko, David J. Brenner

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 904 KB

english, 2003

15

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

Rob Ofman, P.N. Jos Ruiter, Marike Feenstra, Marinus Duran, Tien Bwee Poll-The, Johannes Zschocke, Regina Ensenauer, Willy Lehnert, Jörn Oliver Sass, Wolfgang Sperl, J.A. Ronald Wanders

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 329 KB

english, 2003

16

Reply to Silva et al.

Yong-Gang Yao, Vincent Macaulay, Toomas Kivisild, Ya-Ping Zhang, Hans-Jürgen Bandelt

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 56 KB

english, 2003

17

Correction: Mitochondrial DNA Variation in Amerindians

Wilson A. Silva Jr., Sandro L. Bonatto, Adriano J. Holanda, Andrea K. Ribeiro-dos-Santos, Beatriz M. Paixão, Gustavo H. Goldman, Kiyoko Abe-Sandes, Luis Rodriguez-Delfin, Marcela Barbosa, Maria Luiza

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 294 KB

english, 2003

18

To Trust or Not to Trust an Idiosyncratic Mitochondrial Data Set

Yong-Gang Yao, Vincent Macaulay, Toomas Kivisild, Ya-Ping Zhang, Hans-Jürgen Bandelt

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 314 KB

english, 2003

19

Features of Evolution and Expansion of Modern Humans, Inferred from Genomewide Microsatellite Markers

Lev A. Zhivotovsky, Noah A. Rosenberg, Marcus W. Feldman

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.76 MB

english, 2003

20

The CHEK2 1100delC Mutation Identifies Families with a Hereditary Breast and Colorectal Cancer Phenotype

Hanne Meijers-Heijboer, Marijke Wasielewski, Anja Wagner, Antoinette Hollestelle, Fons Elstrodt, Renate van den Bos, Anja de Snoo, Grace Tjon A Fat, Cecile Brekelmans, Shantie Jagmohan, Patrick Franke

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 957 KB

english, 2003

21

Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

Zubair M. Ahmed, Robert J. Morell, Saima Riazuddin, Andrea Gropman, Shahzad Shaukat, Mussaber M. Ahmad, Saidi A. Mohiddin, Lameh Fananapazir, Rafael C. Caruso, Tayyab Husnain, Shaheen N. Khan, Sheikh

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.61 MB

english, 2003

22

A Method for the Assessment of Disease Associations with Single-Nucleotide Polymorphism Haplotypes and Environmental Variables in Case-Control Studies

Lue Ping Zhao, Shuying Sue Li, Najma Khalid

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 191 KB

english, 2003

23

Anxiety with Panic Disorder Linked to Chromosome 9q in Iceland

Thorgeir E. Thorgeirsson, Högni Oskarsson, Natasa Desnica, Jelena Pop Kostic, Jon G. Stefansson, Halldor Kolbeinsson, Eirikur Lindal, Nikolai Gagunashvili, Michael L. Frigge, Augustine Kong, Kari Stef

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 844 KB

english, 2003

24

Molecular Cytogenetics: Protocols and Applications

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 30 KB

english, 2003

25

A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q

S.C. Bakker, E. M. van der Meulen, J.K. Buitelaar, L.A. Sandkuijl, D.L. Pauls, A.J. Monsuur, R. van ‘t Slot, R.B. Minderaa, W.B. Gunning, P.L. Pearson, R.J. Sinke

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 833 KB

english, 2003

26

An Ancestral Ashkenazi Haplotype at the HMPS/CRAC1 Locus on 15q13–q14 Is Associated with Hereditary Mixed Polyposis Syndrome

E.E.M. Jaeger, K.L. Woodford-Richens, M. Lockett, A.J. Rowan, E.J. Sawyer, K. Heinimann, P. Rozen, V.A. Murday, S.C. Whitelaw, A. Ginsberg, W.S. Atkin, H.T. Lynch, M.C. Southey, H. Debinski, C. Eng, W

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.58 MB

english, 2003

27

Cost-Effective Designs for Linkage Disequilibrium Mapping of Complex Traits

Susan K. Service, Lodewijk A. Sandkuijl, Nelson B. Freimer

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.15 MB

english, 2003

28

Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome

Noriko Miyake, Naohiro Kurotaki, Hirobumi Sugawara, Osamu Shimokawa, Naoki Harada, Tatsuro Kondoh, Masato Tsukahara, Satoshi Ishikiriyama, Tohru Sonoda, Yoko Miyoshi, Satoru Sakazume, Yoshimitsu Fukus

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 335 KB

english, 2003

29

A Family-Based Test for Correlation between Gene Expression and Trait Values

Peter Kraft, Eric Schadt, Jason Aten, Steve Horvath

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 580 KB

english, 2003

30

A Multicolor FISH Assay Does Not Detect DUP25 in Control Individuals or in Reported Positive Control Cells

Yanina Weiland, Jürgen Kraus, Michael R. Speicher

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 139 KB

english, 2003

31

Erratum

Journal:

The American Journal of Human Genetics

Year:

2003

File:

PDF, 17 KB

2003

32

Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome

Philip L. Beales, Jose L. Badano, Alison J. Ross, Stephen J. Ansley, Bethan E. Hoskins, Brigitta Kirsten, Charles A. Mein, Philippe Froguel, Peter J. Scambler, Richard Alan Lewis, James R. Lupski, Nic

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 2.26 MB

english, 2003

33

Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

Heidi A. Heilstedt, Blake C. Ballif, Leslie A. Howard, Richard A. Lewis, Samuel Stal, Catherine D. Kashork, Carlos A. Bacino, Stuart K. Shapira, Lisa G. Shaffer

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 862 KB

english, 2003

34

Richard H. Ward, Ph.D. (June 7, 1943–February 14, 2003): Wild Ride of the Valkyries

Kenneth M. Weiss

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 144 KB

english, 2003

35

Announcements

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 38 KB

english, 2003

36

A Genomewide Scan for Attention-Deficit/Hyperactivity Disorder in an Extended Sample: Suggestive Linkage on 17p11

Matthew N. Ogdie, I. Laurence Macphie, Sonia L. Minassian, May Yang, Simon E. Fisher, Clyde Francks, Rita M. Cantor, James T. McCracken, James J. McGough, Stanley F. Nelson, Anthony P. Monaco, Susan L

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.71 MB

english, 2003

37

This Month in the Journal

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 44 KB

english, 2003

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