| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Large AZFc Deletion Removes DAZ3/DAZ4 and Nearby Genes from Men in Y Haplogroup N
|
Fernandes, S.
|
|
2004
|
74 |
1 |
p. 180-187
8 p.
|
artikel
|
| 2 |
Announcements1 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, Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 301, 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.
|
|
|
2004
|
74 |
1 |
p. 194-196
3 p.
|
artikel
|
| 3 |
A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene
|
Dumitrescu, Alexandra M.
|
|
2004
|
74 |
1 |
p. 168-175
8 p.
|
artikel
|
| 4 |
Antisense-Induced Multiexon Skipping for Duchenne Muscular Dystrophy Makes More Sense
|
Aartsma-Rus, Annemieke
|
|
2004
|
74 |
1 |
p. 83-92
10 p.
|
artikel
|
| 5 |
Dissection of Genomewide-Scan Data in Extended Families Reveals a Major Locus and Oligogenic Susceptibility for Age-Related Macular Degeneration
|
Iyengar, Sudha K.
|
|
2004
|
74 |
1 |
p. 20-39
20 p.
|
artikel
|
| 6 |
Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma
|
Vanharanta, Sakari
|
|
2004
|
74 |
1 |
p. 153-159
7 p.
|
artikel
|
| 7 |
Evidence for Extensive Transmission Distortion in the Human Genome
|
Zöllner, Sebastian
|
|
2004
|
74 |
1 |
p. 62-72
11 p.
|
artikel
|
| 8 |
Hormones, Genes, and Cancer
|
Ozen, Mustafa
|
|
2004
|
74 |
1 |
p. 192-193
2 p.
|
artikel
|
| 9 |
Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects
|
Ware, Stephanie M.
|
|
2004
|
74 |
1 |
p. 93-105
13 p.
|
artikel
|
| 10 |
Linkage at 12q24 with Systemic Lupus Erythematosus (SLE) Is Established and Confirmed in Hispanic and European American Families
|
Nath, Swapan K.
|
|
2004
|
74 |
1 |
p. 73-82
10 p.
|
artikel
|
| 11 |
Mapping Multiple Sclerosis Susceptibility to the HLA-DR Locus in African Americans
|
Oksenberg, Jorge R.
|
|
2004
|
74 |
1 |
p. 160-167
8 p.
|
artikel
|
| 12 |
Maternally Inherited Aminoglycoside-Induced and Nonsyndromic Deafness Is Associated with the Novel C1494T Mutation in the Mitochondrial 12S rRNA Gene in a Large Chinese Family
|
Zhao, Hui
|
|
2004
|
74 |
1 |
p. 139-152
14 p.
|
artikel
|
| 13 |
Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26)
|
Tuson, Miquel
|
|
2004
|
74 |
1 |
p. 128-138
11 p.
|
artikel
|
| 14 |
Novel Vitiligo Susceptibility Loci on Chromosomes 7 (AIS2) and 8 (AIS3), Confirmation of SLEV1 on Chromosome 17, and Their Roles in an Autoimmune Diathesis
|
Spritz, Richard A.
|
|
2004
|
74 |
1 |
p. 188-191
4 p.
|
artikel
|
| 15 |
Population-Genetic Basis of Haplotype Blocks in the 5q31 Region
|
Anderson, Eric C.
|
|
2004
|
74 |
1 |
p. 40-49
10 p.
|
artikel
|
| 16 |
Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium
|
Carlson, Christopher S.
|
|
2004
|
74 |
1 |
p. 106-120
15 p.
|
artikel
|
| 17 |
The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats
|
Barbouti, Aikaterini
|
|
2004
|
74 |
1 |
p. 1-10
10 p.
|
artikel
|
| 18 |
The Burden of Genetic Disease on Inpatient Care in a Children’s Hospital
|
McCandless, Shawn E.
|
|
2004
|
74 |
1 |
p. 121-127
7 p.
|
artikel
|
| 19 |
The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time
|
Zhivotovsky, Lev A.
|
|
2004
|
74 |
1 |
p. 50-61
12 p.
|
artikel
|
| 20 |
The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval
|
Zimprich, Alexander
|
|
2004
|
74 |
1 |
p. 11-19
9 p.
|
artikel
|
| 21 |
This Month in the Journal
|
Garber, Kathryn
|
|
2004
|
74 |
1 |
p. i-ii
nvt p.
|
artikel
|
| 22 |
Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign
|
Groman, Joshua D.
|
|
2004
|
74 |
1 |
p. 176-179
4 p.
|
artikel
|
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