| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population
|
Liu, Fan
|
|
2007
|
81 |
1 |
p. 17-31
15 p.
|
artikel
|
| 2 |
A New Genetic Disorder in Mitochondrial Fatty Acid β-Oxidation: ACAD9 Deficiency
|
He, M.
|
|
2007
|
81 |
1 |
p. 87-103
17 p.
|
artikel
|
| 3 |
Announcements 1 1. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to ajhg@ajhg.net. 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.
|
|
|
2007
|
81 |
1 |
p. 198-
1 p.
|
artikel
|
| 4 |
ASHG Continues Its Support of DNA Day
|
Shaw, Kenna
|
|
2007
|
81 |
1 |
p. 197-
1 p.
|
artikel
|
| 5 |
Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1
|
Beiraghi, Soraya
|
|
2007
|
81 |
1 |
p. 180-188
9 p.
|
artikel
|
| 6 |
Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling
|
O’Driscoll, Mark
|
|
2007
|
81 |
1 |
p. 77-86
10 p.
|
artikel
|
| 7 |
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders
|
Brancati, Francesco
|
|
2007
|
81 |
1 |
p. 104-113
10 p.
|
artikel
|
| 8 |
Conversion and Compensatory Evolution of the γ-Crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human CRYGD Gene to an Ancestral State
|
Plotnikova, Olga V.
|
|
2007
|
81 |
1 |
p. 32-43
12 p.
|
artikel
|
| 9 |
Correlation of Intergenerational Family Sizes Suggests a Genetic Component of Reproductive Fitness
|
Pluzhnikov, Anna
|
|
2007
|
81 |
1 |
p. 165-169
5 p.
|
artikel
|
| 10 |
Erratum
|
|
|
2007
|
81 |
1 |
p. 196-
1 p.
|
artikel
|
| 11 |
Erratum
|
|
|
2007
|
81 |
1 |
p. 196-
1 p.
|
artikel
|
| 12 |
Evidence of Amino Acid Diversity–Enhancing Selection within Humans and among Primates at the Candidate Sperm-Receptor Gene PKDREJ
|
Hamm, David
|
|
2007
|
81 |
1 |
p. 44-52
9 p.
|
artikel
|
| 13 |
Highly Sensitive Method for Genomewide Detection of Allelic Composition in Nonpaired, Primary Tumor Specimens by Use of Affymetrix Single-Nucleotide–Polymorphism Genotyping Microarrays
|
Yamamoto, Go
|
|
2007
|
81 |
1 |
p. 114-126
13 p.
|
artikel
|
| 14 |
Identification of Risk-Related Haplotypes with the Use of Multiple SNPs from Nuclear Families
|
Shi, Min
|
|
2007
|
81 |
1 |
p. 53-66
14 p.
|
artikel
|
| 15 |
Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H
|
Delague, Valérie
|
|
2007
|
81 |
1 |
p. 1-16
16 p.
|
artikel
|
| 16 |
Normal Levels of Wild-Type Mitochondrial DNA Maintain Cytochrome c Oxidase Activity for Two Pathogenic Mitochondrial DNA Mutations but Not for m.3243A→G
|
Durham, Steve E.
|
|
2007
|
81 |
1 |
p. 189-195
7 p.
|
artikel
|
| 17 |
Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4
|
Stendel, Claudia
|
|
2007
|
81 |
1 |
p. 158-164
7 p.
|
artikel
|
| 18 |
Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome
|
Baala, Lekbir
|
|
2007
|
81 |
1 |
p. 170-179
10 p.
|
artikel
|
| 19 |
Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa
|
Coppieters, Frauke
|
|
2007
|
81 |
1 |
p. 147-157
11 p.
|
artikel
|
| 20 |
RNA Interference–Mediated Suppression and Replacement of Human Rhodopsin In Vivo
|
O’Reilly, Mary
|
|
2007
|
81 |
1 |
p. 127-135
9 p.
|
artikel
|
| 21 |
The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter
|
Siintola, Eija
|
|
2007
|
81 |
1 |
p. 136-146
11 p.
|
artikel
|
| 22 |
The Nuclear Factor κB–Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset
|
Maystadt, Isabelle
|
|
2007
|
81 |
1 |
p. 67-76
10 p.
|
artikel
|
| 23 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2007
|
81 |
1 |
p. i-ii
nvt p.
|
artikel
|
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