| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families *
|
Klein, Christine
|
|
2000
|
67 |
5 |
p. 1314-1319
6 p.
|
artikel
|
| 2 |
Announcements 1 1 Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory University School of Medicine, 1462 Clifton Road, Room B28, Atlanta, GA 30322-3050; fax them to (404) 712-9984; or send via E-mail to ajhg@emory.edu. Submission must be received at least 7 weeks before the month of issue in which publication is requested. They must be double spaced with a 1½-inch margin on all sides. The maximum length is 250 words, excluding the address for correspondence. Please include a cover letter indicating the name of the sponsoring ASHG member.
|
|
|
2000
|
67 |
5 |
p. 1362-1364
3 p.
|
artikel
|
| 3 |
A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy
|
Umehara, Fujio
|
|
2000
|
67 |
5 |
p. 1302-1305
4 p.
|
artikel
|
| 4 |
A Second-Generation Genomewide Screen for Asthma-Susceptibility Alleles in a Founder Population
|
Ober, Carole
|
|
2000
|
67 |
5 |
p. 1154-1162
9 p.
|
artikel
|
| 5 |
Asymmetries in the Maternal and Paternal Genetic Histories of Colombian Populations
|
Seielstad, Mark
|
|
2000
|
67 |
5 |
p. 1062-1066
5 p.
|
artikel
|
| 6 |
Autosomal, mtDNA, and Y-Chromosome Diversity in Amerinds: Pre- and Post-Columbian Patterns of Gene Flow in South America
|
Mesa, Natalia R.
|
|
2000
|
67 |
5 |
p. 1277-1286
10 p.
|
artikel
|
| 7 |
Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34
|
Németh, Andrea H.
|
|
2000
|
67 |
5 |
p. 1320-1326
7 p.
|
artikel
|
| 8 |
Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma
|
Lehmann, Ordan J.
|
|
2000
|
67 |
5 |
p. 1129-1135
7 p.
|
artikel
|
| 9 |
Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV
|
Bassi, Maria T.
|
|
2000
|
67 |
5 |
p. 1110-1120
11 p.
|
artikel
|
| 10 |
Erratum
|
|
|
2000
|
67 |
5 |
p. 1365-
1 p.
|
artikel
|
| 11 |
Erratum
|
|
|
2000
|
67 |
5 |
p. 1365-
1 p.
|
artikel
|
| 12 |
Erratum
|
|
|
2000
|
67 |
5 |
p. 1365-
1 p.
|
artikel
|
| 13 |
Erratum
|
|
|
2000
|
67 |
5 |
p. 1365-
1 p.
|
artikel
|
| 14 |
General Equations for P t, P s, and the Power of the TDT and the Affected–Sib-Pair Test
|
McGinnis, Ralph
|
|
2000
|
67 |
5 |
p. 1340-1347
8 p.
|
artikel
|
| 15 |
Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35
|
Jiao, Xiaodong
|
|
2000
|
67 |
5 |
p. 1309-1313
5 p.
|
artikel
|
| 16 |
Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome
|
Wu, Yuan-Qing
|
|
2000
|
67 |
5 |
p. 1327-1332
6 p.
|
artikel
|
| 17 |
High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots
|
Zatková, Andrea
|
|
2000
|
67 |
5 |
p. 1333-1339
7 p.
|
artikel
|
| 18 |
Human Nonsyndromic Hereditary Deafness DFNA17 Is Due to a Mutation in Nonmuscle Myosin MYH9
|
Lalwani, Anil K.
|
|
2000
|
67 |
5 |
p. 1121-1128
8 p.
|
artikel
|
| 19 |
Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever
|
Cazeneuve, Cécile
|
|
2000
|
67 |
5 |
p. 1136-1143
8 p.
|
artikel
|
| 20 |
Improved Inference of Relationship for Pairs of Individuals
|
Epstein, Michael P.
|
|
2000
|
67 |
5 |
p. 1219-1231
13 p.
|
artikel
|
| 21 |
Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism
|
Andresen, Brage Storstein
|
|
2000
|
67 |
5 |
p. 1095-1103
9 p.
|
artikel
|
| 22 |
Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene
|
de Winter, Johan P.
|
|
2000
|
67 |
5 |
p. 1306-1308
3 p.
|
artikel
|
| 23 |
Linkage Disequilibrium Analysis of Biallelic DNA Markers, Human Quantitative Trait Loci, and Threshold-Defined Case and Control Subjects
|
Schork, Nicholas J.
|
|
2000
|
67 |
5 |
p. 1208-1218
11 p.
|
artikel
|
| 24 |
Localization of a Small Genomic Region Associated with Elevated ACE
|
Zhu, Xiaofeng
|
|
2000
|
67 |
5 |
p. 1144-1153
10 p.
|
artikel
|
| 25 |
Major Genes Regulating Total Serum Immunoglobulin E Levels in Families with Asthma
|
Xu, Jianfeng
|
|
2000
|
67 |
5 |
p. 1163-1173
11 p.
|
artikel
|
| 26 |
Messages through Bottlenecks: On the Combined Use of Slow and Fast Evolving Polymorphic Markers on the Human Y Chromosome
|
de Knijff, Peter
|
|
2000
|
67 |
5 |
p. 1055-1061
7 p.
|
artikel
|
| 27 |
Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis
|
Macari, Francoise
|
|
2000
|
67 |
5 |
p. 1296-1301
6 p.
|
artikel
|
| 28 |
Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy
|
Valnot, Isabelle
|
|
2000
|
67 |
5 |
p. 1104-1109
6 p.
|
artikel
|
| 29 |
On a Randomization Procedure
|
Kong, Augustine
|
|
2000
|
67 |
5 |
p. 1352-1355
4 p.
|
artikel
|
| 30 |
Performance of Markov Chain–Monte Carlo Approaches for Mapping Genes in Oligogenic Models with an Unknown Number of Loci
|
Lee, Jae K.
|
|
2000
|
67 |
5 |
p. 1232-1250
19 p.
|
artikel
|
| 31 |
Pitfalls in Homozygosity Mapping
|
Miano, Maria G.
|
|
2000
|
67 |
5 |
p. 1348-1351
4 p.
|
artikel
|
| 32 |
Reply to Kong and Nicolae
|
Zhao, Hongyu
|
|
2000
|
67 |
5 |
p. 1355-1356
2 p.
|
artikel
|
| 33 |
Small Evolutionarily Conserved RNA, Resembling C/D Box Small Nucleolar RNA, Is Transcribed from PWCR1, a Novel Imprinted Gene in the Prader-Willi Deletion Region, Which Is Highly Expressed in Brain
|
de los Santos, Tala
|
|
2000
|
67 |
5 |
p. 1067-1082
16 p.
|
artikel
|
| 34 |
Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15
|
Stöber, Gerald
|
|
2000
|
67 |
5 |
p. 1201-1207
7 p.
|
artikel
|
| 35 |
Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia
|
Carvajal-Carmona, Luis G.
|
|
2000
|
67 |
5 |
p. 1287-1295
9 p.
|
artikel
|
| 36 |
The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. I. An Autosomal Genome Scan for Genes That Predispose to Type 2 Diabetes
|
Ghosh, Soumitra
|
|
2000
|
67 |
5 |
p. 1174-1185
12 p.
|
artikel
|
| 37 |
The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. II. An Autosomal Genome Scan for Diabetes-Related Quantitative-Trait Loci
|
Watanabe, Richard M.
|
|
2000
|
67 |
5 |
p. 1186-1200
15 p.
|
artikel
|
| 38 |
The Promise and Pitfalls of Telomere Region–Specific Probes
|
Ballif, Blake C.
|
|
2000
|
67 |
5 |
p. 1356-1358
3 p.
|
artikel
|
| 39 |
The Sonic Hedgehog–Patched–Gli Pathway in Human Development and Disease
|
Villavicencio, Elisabeth H.
|
|
2000
|
67 |
5 |
p. 1047-1054
8 p.
|
artikel
|
| 40 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2000
|
67 |
5 |
p. i-ii
nvt p.
|
artikel
|
| 41 |
Tracing European Founder Lineages in the Near Eastern mtDNA Pool
|
Richards, Martin
|
|
2000
|
67 |
5 |
p. 1251-1276
26 p.
|
artikel
|
| 42 |
Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix
|
Richards, Allan J.
|
|
2000
|
67 |
5 |
p. 1083-1094
12 p.
|
artikel
|
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