Volume 64; Issue 1

The American Journal of Human Genetics

Volume 64; Issue 1

1

Erratum

Journal:

The American Journal of Human Genetics

Year:

1999

File:

PDF, 16 KB

1999

2

Prader-Willi Syndrome Is Caused by Disruption of the SNRPN Gene

C.D. Kuslich, J.A. Kobori, G. Mohapatra, C. Gregorio-King, T.A. Donlon

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 636 KB

english, 1999

3

Organelle Diseases

Michael G. Hanna

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 26 KB

english, 1999

4

Failure to Detect Linkage of Preeclampsia to the Region of the NOS3 Locus on Chromosome 7q

Ian Lewis, Guus Lachmeijer, Sarah Downing, Gustaaf Dekker, Clive Glazebrook, David Clayton, Nick H. Morris, Kevin M. O'Shaughnessy

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 58 KB

english, 1999

5

Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular Basis

E.G. van Grunsven, E. van Berkel, P.A.W. Mooijer, P.A. Watkins, H.W. Moser, Y. Suzuki, L.L. Jiang, T. Hashimoto, G. Hoefler, J. Adamski, R.J.A. Wanders

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 647 KB

english, 1999

6

Further Evidence for the Increased Power of LOD Scores Compared with Nonparametric Methods

Martina Durner, Veronica J. Vieland, David A. Greenberg

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 731 KB

english, 1999

7

Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations

Ulla Lenkkeri, Minna Männikkö, Paula McCready, Jane Lamerdin, Olivier Gribouval, Patrick Niaudet, Corinne Antignac, Clifford E. Kashtan, Christer Holmberg, Anne Olsen, Marjo Kestilä, Karl Tryggvason

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.59 MB

english, 1999

8

Spectrum of Mutations in α-Mannosidosis

Thomas Berg, Hilde Monica Frostad Riise, Gaute Martin Hansen, Dag Malm, Lisbeth Tranebjærg, Ole Kristian Tollersrud, Øivind Nilssen

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 336 KB

english, 1999

9

A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

Robert M.W. Hofstra, Olivier Valdenaire, Ellen Arch, Jan Osinga, Hester Kroes, Bernd-Michael Löffler, Ada Hamosh, Carel Meijers, Charles H.C.M. Buys

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 189 KB

english, 1999

10

A Comprehensive Linkage Analysis of Chromosome 21q22 Supports Prior Evidence for a Putative Bipolar Affective Disorder Locus

Vincent M. Aita, Jianjun Liu, James A. Knowles, Joseph D. Terwilliger, Romulo Baltazar, Adina Grunn, Jo Ellen Loth, Kyra Kanyas, Bernard Lerer, Jean Endicott, Zhenyuan Wang, Graciela Penchaszadeh, T.

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 273 KB

english, 1999

11

Refinement of the Chromosome 5p Locus for Familial Calcium Pyrophosphate Dihydrate Deposition Disease

L.J. Andrew, V. Brancolini, L. Serrano de la Pena, M. Devoto, F. Caeiro, R. Marchegiani, A. Reginato, A. Gaucher, P. Netter, P. Gillet, D. Loeuille, D.J. Prockop, A. Carr, B.F. Wordsworth, M. Lathrop,

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.61 MB

english, 1999

12

Localization of a Gene for Familial Hemophagocytic Lymphohistiocytosis at Chromosome 9q21.3-22 by Homozygosity Mapping

Mina Ohadi, Michel R.A. Lalloz, Pak Sham, Jinghua Zhao, Andrew M. Dearlove, Caroline Shiach, Sally Kinsey, Michael Rhodes, D. Mark Layton

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 672 KB

english, 1999

13

Maternally Inherited Cardiomyopathy: An Atypical Presentation of the mtDNA 12S rRNA Gene A1555G Mutation

Filippo M. Santorelli, Kurenai Tanji, Panagiota Manta, Carlo Casali, Sindu Krishna, Arthur P. Hays, Donna M. Mancini, Salvatore DiMauro, Michio Hirano

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 289 KB

english, 1999

14

A Simulation Study of the Effects of Assignment of Prior Identity-by-Descent Probabilities to Unselected Sib Pairs, in Covariance-Structure Modeling of a Quantitative-Trait Locus

Conor V. Dolan, Dorret I. Boomsma, Michael C. Neale

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 2.45 MB

english, 1999

15

A Quantitative-Trait Locus on Chromosome 6p Influences Different Aspects of Developmental Dyslexia

Simon E. Fisher, Angela J. Marlow, Janine Lamb, Elena Maestrini, Dianne F. Williams, Alex J. Richardson, Daniel E. Weeks, John F. Stein, Anthony P. Monaco

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 948 KB

english, 1999

16

Quantitative-Trait Locus for Specific Language and Reading Deficits on Chromosome 6p

Javier Gayán, Shelley D. Smith, Stacey S. Cherny, Lon R. Cardon, David W. Fulker, Amy M. Brower, Richard K. Olson, Bruce F. Pennington, John C. DeFries

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 514 KB

english, 1999

17

Recurrence of the T666M Calcium Channel CACNA1A Gene Mutation in Familial Hemiplegic Migraine with Progressive Cerebellar Ataxia

A. Ducros, C. Denier, A. Joutel, K. Vahedi, A. Michel, F. Darcel, M. Madigand, D. Guerouaou, F. Tison, J. Julien, E. Hirsch, F. Chedru, C. Bisgård, G. Lucotte, P. Després, C. Billard, M.A. Barthez, G.

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 808 KB

english, 1999

18

Combined Linkage and Association Sib-Pair Analysis for Quantitative Traits

D.W. Fulker, S.S. Cherny, P.C. Sham, J.K. Hewitt

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 104 KB

english, 1999

19

Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity

Rémi Dufourcq-Lagelouse, Nada Jabado, Françoise Le Deist, Jean-Louis Stéphan, Gérard Souillet, Marrie Bruin, Etienne Vilmer, Marion Schneider, Gritta Janka, Alain Fischer, Geneviève de Saint Basile

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.44 MB

english, 1999

20

Genome Scan for Human Obesity and Linkage to Markers in 20q13

Joseph H. Lee, Danielle R. Reed, Wei-Dong Li, Weizhen Xu, Eun-Jeong Joo, Robin L. Kilker, Elizabeth Nanthakumar, Michael North, Hakan Sakul, Callum Bell, R. Arlen Price

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 467 KB

english, 1999

21

p53 Variants Predisposing to Cancer Are Present in Healthy Centenarians

Massimiliano Bonafè, Fabiola Olivieri, Daniela Mari, Giovannella Baggio, Rosario Mattace, Paolo Sansoni, Giovanna De Benedictis, Maria De Luca, Stefano Bertolini, Cristiana Barbi, Daniela Monti, Claud

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 52 KB

english, 1999

22

Molecular Genetic Analysis of Remains of a 2,000-Year-Old Human Population in China—and Its Relevance for the Origin of the Modern Japanese Population

Hiroki Oota, Naruya Saitou, Takayuki Matsushita, Shintaroh Ueda

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.15 MB

english, 1999

23

Inbreeding Effects on Fertility in Humans: Evidence for Reproductive Compensation

Carole Ober, Terry Hyslop, Walter W. Hauck

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 567 KB

english, 1999

24

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

Iwan C. Meij, Kathrin Saar, Lambert P.W.J. van den Heuvel, Gudrun Nuernberg, Martin Vollmer, Friedhelm Hildebrandt, André Reis, Leo A.H. Monnens, Nine V.A.M. Knoers

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 2.49 MB

english, 1999

25

The Glu318Gly Substitution in Presenilin 1 Is Not Causally Related to Alzheimer Disease

Bart Dermaut, Marc Cruts, Arjen J.C. Slooter, Sofie Van Gestel, Chris De Jonghe, Hugo Vanderstichele, Eugeen Vanmechelen, Monique M. Breteler, Albert Hofman, Cornelia M. van Duijn, Christine Van Broec

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 55 KB

english, 1999

26

Cancer Genetics and Insurance

M.F. Niermeijer

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 31 KB

english, 1999

27

Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBHOk), to Chromosome 19q13

Sarah E. Lloyd, Anna A.J. Pannett, Peter H. Dixon, Michael P. Whyte, Rajesh V. Thakker

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 892 KB

english, 1999

28

Exclusion of Chromosome 7 for Kartagener Syndrome but Suggestion of Linkage in Families with Other Forms of Primary Ciliary Dyskinesia

Michal Witt, Yue-fen Wang, Shengbiao Wang, Cui-e Sun, Jacek Pawlik, Ewa Rutkiewicz, Jerzy Zebrak, Scott R. Diehl

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 279 KB

english, 1999

29

The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs

Vincent Macaulay, Martin Richards, Eileen Hickey, Emilce Vega, Fulvio Cruciani, Valentina Guida, Rosaria Scozzari, Batsheva Bonné-Tamir, Bryan Sykes, Antonio Torroni

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 4.81 MB

english, 1999

30

Rapid Clearance of Fetal DNA from Maternal Plasma

Y. M. Dennis Lo, Jun Zhang, Tse N. Leung, Tze K. Lau, Allan M.Z. Chang, N. Magnus Hjelm

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 822 KB

english, 1999

31

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

Bru Cormand, Kristiina Avela, Helena Pihko, Pirkko Santavuori, Beril Talim, Haluk Topaloglu, Albert de la Chapelle, Anna-Elina Lehesjoki

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.50 MB

english, 1999

32

Variant Manifestation of Cowden Disease in Japan: Hamartomatous Polyposis of the Digestive Tract with Mutation of the PTEN Gene

Keisuke Kurose, Tsutomu Araki, Tsuyoshi Matsunaka, Yasuharu Takada, Mitsuru Emi

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 226 KB

english, 1999

33

The Interpretation of the Parameters in the Transmission/Disequilibrium Test

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 56 KB

english, 1999

34

Two Novel Single–Base-Pair Substitutions Adjacent to the CAG Repeat in the Huntington Disease Gene (IT15): Implications for Diagnostic Testing

Russell L. Margolis, O. Colin Stine, Colleen Callahan, Adam Rosenblatt, Margaret H. Abbott, Meeia Sherr, Christopher A. Ross

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 255 KB

english, 1999

35

Reply to Niermeijer

Miguel A. Rodriguez-Bigas, Mary-Jo T. Rosenblatt, Carolyn Farrell

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 33 KB

english, 1999

36

An Alu-Mediated 6-kb Duplication in the BRCA1 Gene: A New Founder Mutation?

Nadine Puget, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Carole Audoynaud, Sabine Pagès, Henry T. Lynch, David Goldgar, Gilbert M. Lenoir, Sylvie Mazoyer

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 169 KB

english, 1999

37

Cystic Fibrosis Mutations in Heterozygous Newborns with Hypertrypsinemia and Low Sweat Chloride

C. Castellani, M.G. Benetazzo, A. Bonizzato, P.F. Pignatti, G. Mastella

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 44 KB

english, 1999

38

LINE-1 Elements at the Sites of Molecular Rearrangements in Alport Syndrome–Diffuse Leiomyomatosis

Yoav Segal, Bernard Peissel, Alessandra Renieri, Mario de Marchi, Andrea Ballabio, York Pei, Jing Zhou

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.43 MB

english, 1999

39

Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff-Smith, Martin J. Carette, Julia Grant, Nick Dennis, W. Reardon, Miranda Splitt, Andrew P. Read, Dian Donnai

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 776 KB

english, 1999

40

Rhmod Syndrome: A Family Study of the Translation-Initiator Mutation in the Rh50 Glycoprotein Gene

C.-H. Huang, G.-J. Cheng, M.E. Reid, Y. Chen

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 842 KB

english, 1999

41

A New Locus for Nonsyndromic Hereditary Hearing Impairment, DFNA17, Maps to Chromosome 22 and Represents a Gene for Cochleosaccular Degeneration

Anil K. Lalwani, William M. Luxford, Anand N. Mhatre, Ali Attaie, Edward R. Wilcox, Caley M. Castelein

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 968 KB

english, 1999

42

Making Genomic Medicine a Reality

Arthur L. Beaudet

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 438 KB

english, 1999

43

The Genomic Record of Humankind's Evolutionary Roots

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 391 KB

english, 1999

44

When Less Is More: Gene Loss as an Engine of Evolutionary Change

Maynard V. Olson

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 68 KB

english, 1999

45

Mice and the Role of Unequal Recombination in Gene-Family Evolution

John C. Schimenti

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 186 KB

english, 1999

46

Concerted Evolution: Molecular Mechanism and Biological Implications

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 302 KB

english, 1999

47

Remarks on Receiving the ASHG Award: Science and Science Education

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 37 KB

english, 1999

48

Multiple ATM-Dependent Pathways: An Explanation for Pleiotropy

Kevin D. Brown, Carrolee Barlow, Anthony Wynshaw-Boris

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 191 KB

english, 1999

49

Professor Ching Chun Li, Courageous Scholar and Educator

Aravinda Chakravarti

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 40 KB

english, 1999

50

Erratum

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 21 KB

english, 1999

51

Erratum

Journal:

The American Journal of Human Genetics

Year:

1999

File:

PDF, 21 KB

1999

52

New Editor of The American Journal of Human Genetics

Journal:

The American Journal of Human Genetics

Year:

1999

File:

PDF, 17 KB

1999

53

Announcements

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 37 KB

english, 1999

54

This Month in the Journal

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 47 KB

english, 1999