| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Chromosome 8 Gene-Cluster Polymorphism with Low Human Beta-Defensin 2 Gene Copy Number Predisposes to Crohn Disease of the Colon
|
Fellermann, Klaus
|
|
2006
|
79 |
3 |
p. 439-448
10 p.
|
artikel
|
| 2 |
A Fast Method for Computing High-Significance Disease Association in Large Population-Based Studies
|
Kimmel, Gad
|
|
2006
|
79 |
3 |
p. 481-492
12 p.
|
artikel
|
| 3 |
A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene
|
Van Camp, Guy
|
|
2006
|
79 |
3 |
p. 449-457
9 p.
|
artikel
|
| 4 |
An Expectation-Maximization Algorithm for the Analysis of Allelic Expression Imbalance
|
Teare, M.D.
|
|
2006
|
79 |
3 |
p. 539-543
5 p.
|
artikel
|
| 5 |
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.
|
|
|
2006
|
79 |
3 |
p. 600-602
3 p.
|
artikel
|
| 6 |
Deletion of PTEN and BMPR1A on Chromosome 10q23 Is Not Always Associated with Juvenile Polyposis of Infancy
|
Salviati, Leonardo
|
|
2006
|
79 |
3 |
p. 593-596
4 p.
|
artikel
|
| 7 |
Exploring along a Crooked Path * * Previously presented at the annual meeting of The American Society of Human Genetics, in Salt Lake City, on October 29, 2005.
|
Brown, Patrick O.
|
|
2006
|
79 |
3 |
p. 429-433
5 p.
|
artikel
|
| 8 |
Genomewide Scan for Nonsyndromic Cleft Lip and Palate in Multigenerational Indian Families Reveals Significant Evidence of Linkage at 13q33.1-34
|
Radhakrishna, Uppala
|
|
2006
|
79 |
3 |
p. 580-585
6 p.
|
artikel
|
| 9 |
Introductory Speech for Francis S. Collins * * Previously presented at the annual meeting of The American Society of Human Genetics, in Salt Lake City, on October 28, 2005.
|
Rosenberg, Leon E.
|
|
2006
|
79 |
3 |
p. 419-420
2 p.
|
artikel
|
| 10 |
Introductory Speech for Patrick O. Brown * * Previously presented at the annual meeting of The American Society of Human Genetics, in Salt Lake City, on October 29, 2005.
|
Eichler, Evan
|
|
2006
|
79 |
3 |
p. 427-428
2 p.
|
artikel
|
| 11 |
Medical Genetics in the Genomic Medicine of the 21st Century * * This article is based on a talk given at the Symposium on the Future of Human and Medical Genetics, held in Seattle on May 19, 2004, in honor of the establishment of the Arno G. Motulsky Endowed Professorship at the University of Washington School of Medicine.
|
Epstein, Charles J.
|
|
2006
|
79 |
3 |
p. 434-438
5 p.
|
artikel
|
| 12 |
Meiotic Recombination and Spatial Proximity in the Etiology of the Recurrent t(11;22)
|
Ashley, Terry
|
|
2006
|
79 |
3 |
p. 524-538
15 p.
|
artikel
|
| 13 |
Mitochondrial DNA–Deletion Mutations Accumulate Intracellularly to Detrimental Levels in Aged Human Skeletal Muscle Fibers
|
Bua, Entela
|
|
2006
|
79 |
3 |
p. 469-480
12 p.
|
artikel
|
| 14 |
Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote
|
Zhao, Zhenze
|
|
2006
|
79 |
3 |
p. 514-523
10 p.
|
artikel
|
| 15 |
Monte Carlo Pedigree Disequilibrium Test for Markers on the X Chromosome
|
Ding, Jie
|
|
2006
|
79 |
3 |
p. 567-573
7 p.
|
artikel
|
| 16 |
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
|
den Hollander, Anneke I.
|
|
2006
|
79 |
3 |
p. 556-561
6 p.
|
artikel
|
| 17 |
Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans
|
Wu, Huimin
|
|
2006
|
79 |
3 |
p. 574-579
6 p.
|
artikel
|
| 18 |
Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene
|
Karadimas, Charalampos L.
|
|
2006
|
79 |
3 |
p. 544-548
5 p.
|
artikel
|
| 19 |
No Longer Just Looking under the Lamppost * * Previously presented at the annual meeting of The American Society of Human Genetics, in Salt Lake City, on October 28, 2005.
|
Collins, Francis S.
|
|
2006
|
79 |
3 |
p. 421-426
6 p.
|
artikel
|
| 20 |
Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation
|
Friedman, J.M.
|
|
2006
|
79 |
3 |
p. 500-513
14 p.
|
artikel
|
| 21 |
Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase
|
Lesnik Oberstein, Saskia A.J.
|
|
2006
|
79 |
3 |
p. 562-566
5 p.
|
artikel
|
| 22 |
Reply to Salviati et al.
|
Sanlaville, Damien
|
|
2006
|
79 |
3 |
p. 596-597
2 p.
|
artikel
|
| 23 |
Schizophrenia and Oxidative Stress: Glutamate Cysteine Ligase Modifier as a Susceptibility Gene
|
Tosic, Mirjana
|
|
2006
|
79 |
3 |
p. 586-592
7 p.
|
artikel
|
| 24 |
The Annual Meeting: From Conception to Birth
|
Boughman, Joann A.
|
|
2006
|
79 |
3 |
p. 598-599
2 p.
|
artikel
|
| 25 |
The Value of Molecular Haplotypes in a Family-Based Linkage Study
|
Gillanders, E.M.
|
|
2006
|
79 |
3 |
p. 458-468
11 p.
|
artikel
|
| 26 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2006
|
79 |
3 |
p. i-ii
nvt p.
|
artikel
|
| 27 |
UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome
|
Nascimento, Rafaella M.P.
|
|
2006
|
79 |
3 |
p. 549-555
7 p.
|
artikel
|
| 28 |
X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females
|
Amos-Landgraf, James M.
|
|
2006
|
79 |
3 |
p. 493-499
7 p.
|
artikel
|
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