| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acheiropodia Is Caused by a Genomic Deletion in C7orf2, the Human Orthologue of the Lmbr1 Gene
|
Ianakiev, P.
|
|
2001
|
68 |
1 |
p. 38-45
8 p.
|
artikel
|
| 2 |
A Genome Scan for Renal Function among Hypertensives: the HyperGEN Study
|
DeWan, Andrew T.
|
|
2001
|
68 |
1 |
p. 136-144
9 p.
|
artikel
|
| 3 |
A Mutation in the Gene for the Neurotransmitter Receptor–Clustering Protein Gephyrin Causes a Novel Form of Molybdenum Cofactor Deficiency
|
Reiss, Jochen
|
|
2001
|
68 |
1 |
p. 208-213
6 p.
|
artikel
|
| 4 |
Analysis of European mtDNAs for Recombination
|
Elson, J.L.
|
|
2001
|
68 |
1 |
p. 145-153
9 p.
|
artikel
|
| 5 |
A Narrow Segment of Maternal Uniparental Disomy of Chromosome 7q31-qter in Silver-Russell Syndrome Delimits a Candidate Gene Region
|
Hannula, Katariina
|
|
2001
|
68 |
1 |
p. 247-253
7 p.
|
artikel
|
| 6 |
A New Locus for Autosomal Dominant Dilated Cardiomyopathy Identified on Chromosome 6q12-q16
|
Sylvius, N.
|
|
2001
|
68 |
1 |
p. 241-246
6 p.
|
artikel
|
| 7 |
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.
|
|
|
2001
|
68 |
1 |
p. 295-297
3 p.
|
artikel
|
| 8 |
A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3
|
Leal, Alejandro
|
|
2001
|
68 |
1 |
p. 269-274
6 p.
|
artikel
|
| 9 |
AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation
|
Edelmann, L.
|
|
2001
|
68 |
1 |
p. 1-13
13 p.
|
artikel
|
| 10 |
BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension
|
Machado, Rajiv D
|
|
2001
|
68 |
1 |
p. 92-102
11 p.
|
artikel
|
| 11 |
CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy *
|
Phillips, Hilary A.
|
|
2001
|
68 |
1 |
p. 225-231
7 p.
|
artikel
|
| 12 |
Decrease of 3243 A→G mtDNA Mutation from Blood in MELAS Syndrome: A Longitudinal Study
|
Rahman, S.
|
|
2001
|
68 |
1 |
p. 238-240
3 p.
|
artikel
|
| 13 |
DFNA25, a Novel Locus for Dominant Nonsyndromic Hereditary Hearing Impairment, Maps to 12q21-24
|
Greene, Charles C.
|
|
2001
|
68 |
1 |
p. 254-260
7 p.
|
artikel
|
| 14 |
Erratum
|
|
|
2001
|
68 |
1 |
p. 298-
1 p.
|
artikel
|
| 15 |
Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions
|
Abecasis, Gonçalo R.
|
|
2001
|
68 |
1 |
p. 191-197
7 p.
|
artikel
|
| 16 |
Fabry Disease: Preclinical Studies Demonstrate the Effectiveness of α-Galactosidase A Replacement in Enzyme-Deficient Mice
|
Ioannou, Yiannis A.
|
|
2001
|
68 |
1 |
p. 14-25
12 p.
|
artikel
|
| 17 |
Gene Preference in Maple Syrup Urine Disease
|
Nellis, Mary M.
|
|
2001
|
68 |
1 |
p. 232-237
6 p.
|
artikel
|
| 18 |
Genetic and Physical Mapping of the Locus for Autosomal Dominant Renal Fanconi Syndrome, on Chromosome 15q15.3
|
Lichter-Konecki, U.
|
|
2001
|
68 |
1 |
p. 264-268
5 p.
|
artikel
|
| 19 |
Genetics of Event-Related Brain Potentials in Response to a Semantic Priming Paradigm in Families with a History of Alcoholism
|
Almasy, L.
|
|
2001
|
68 |
1 |
p. 128-135
8 p.
|
artikel
|
| 20 |
Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III
|
Lüdecke, H.-J.
|
|
2001
|
68 |
1 |
p. 81-91
11 p.
|
artikel
|
| 21 |
Hereditary Nonpolyposis Colorectal Cancer in 95 Families: Differences and Similarities between Mutation-Positive and Mutation-Negative Kindreds
|
Scott, Rodney J.
|
|
2001
|
68 |
1 |
p. 118-127
10 p.
|
artikel
|
| 22 |
Inadequate Use of Molecular Hybridization to Analyze DNA in Neanderthal Fossils
|
Geigl, E.M.
|
|
2001
|
68 |
1 |
p. 287-290
4 p.
|
artikel
|
| 23 |
Independent Histories of Human Y Chromosomes from Melanesia and Australia
|
Kayser, Manfred
|
|
2001
|
68 |
1 |
p. 173-190
18 p.
|
artikel
|
| 24 |
Lactase Haplotype Diversity in the Old World
|
Hollox, Edward J.
|
|
2001
|
68 |
1 |
p. 160-172
13 p.
|
artikel
|
| 25 |
Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs
|
Dabora, Sandra L.
|
|
2001
|
68 |
1 |
p. 64-80
17 p.
|
artikel
|
| 26 |
Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications
|
Rossetti, Sandro
|
|
2001
|
68 |
1 |
p. 46-63
18 p.
|
artikel
|
| 27 |
Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease
|
Bingham, Coralie
|
|
2001
|
68 |
1 |
p. 219-224
6 p.
|
artikel
|
| 28 |
Population Structure in Admixed Populations: Effect of Admixture Dynamics on the Pattern of Linkage Disequilibrium
|
Pfaff, C.L.
|
|
2001
|
68 |
1 |
p. 198-207
10 p.
|
artikel
|
| 29 |
Precise Estimation of Allele Frequencies of Single-Nucleotide Polymorphisms by a Quantitative SSCP Analysis of Pooled DNA
|
Sasaki, Tomonari
|
|
2001
|
68 |
1 |
p. 214-218
5 p.
|
artikel
|
| 30 |
Primate DAX1, SRY, and SOX9: Evolutionary Stratification of Sex-Determination Pathway
|
Patel, Megha
|
|
2001
|
68 |
1 |
p. 275-280
6 p.
|
artikel
|
| 31 |
Reply to Geigl
|
Bachmann, Lutz
|
|
2001
|
68 |
1 |
p. 290-291
2 p.
|
artikel
|
| 32 |
The 28-kb Deletion Spanning D15S63 Is a Polymorphic Variant in the Ashkenazi Jewish Population
|
Silverstein, Shira
|
|
2001
|
68 |
1 |
p. 261-263
3 p.
|
artikel
|
| 33 |
The Phylogeography of Brazilian Y-Chromosome Lineages
|
Carvalho-Silva, Denise R.
|
|
2001
|
68 |
1 |
p. 281-286
6 p.
|
artikel
|
| 34 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2001
|
68 |
1 |
p. i-ii
nvt p.
|
artikel
|
| 35 |
Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations
|
Bourgain, C.
|
|
2001
|
68 |
1 |
p. 154-159
6 p.
|
artikel
|
| 36 |
Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
|
Bork, Julie M.
|
|
2001
|
68 |
1 |
p. 26-37
12 p.
|
artikel
|
| 37 |
Worldwide Genetic Analysis of the CFTR Region
|
Mateu, Eva
|
|
2001
|
68 |
1 |
p. 103-117
15 p.
|
artikel
|
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