| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25
|
McHale, D.P.
|
|
1999
|
64 |
2 |
p. 526-532
7 p.
|
artikel
|
| 2 |
Announcements1 1. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please send announcement text by E-mail to ajhg@u.washington.edu or by fax to (206) 685-9684. Please limit announcements to 150 words, excluding the address for correspondence, and indicate the name of the sponsoring ASHG member. Announcements will be posted on the electronic edition of the Journal within a week of receipt. For the print edition, submissions must be received 5 weeks before the month of the issue in which publication is requested.
|
|
|
1999
|
64 |
2 |
p. 670-672
3 p.
|
artikel
|
| 3 |
A Novel 22q11.2 Microdeletion in DiGeorge Syndrome
|
Rauch, Anita
|
|
1999
|
64 |
2 |
p. 659-667
9 p.
|
artikel
|
| 4 |
Biological Implications of the DNA Structures Associated with Disease-Causing Triplet Repeats
|
Sinden, Richard R.
|
|
1999
|
64 |
2 |
p. 346-353
8 p.
|
artikel
|
| 5 |
Both Recessive and Dominant Forms of Anhidrotic/Hypohidrotic Ectodermal Dysplasia Map to Chromosome 2q11-q13
|
Baala, L.
|
|
1999
|
64 |
2 |
p. 651-653
3 p.
|
artikel
|
| 6 |
Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation
|
Gong, Yaoqin
|
|
1999
|
64 |
2 |
p. 570-577
8 p.
|
artikel
|
| 7 |
Brachydactyly Type B: Linkage to Chromosome 9q22 and Evidence for Genetic Heterogeneity
|
Oldridge, Michael
|
|
1999
|
64 |
2 |
p. 578-585
8 p.
|
artikel
|
| 8 |
Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency
|
Andresen, Brage Storstein
|
|
1999
|
64 |
2 |
p. 479-494
16 p.
|
artikel
|
| 9 |
Comparison of the Power and Accuracy of Biallelic and Microsatellite Markers in Population-Based Gene-Mapping Methods
|
Xiong, Momiao
|
|
1999
|
64 |
2 |
p. 629-640
12 p.
|
artikel
|
| 10 |
Congenital Motor Nystagmus Linked to Xq26-q27
|
Kerrison, John B.
|
|
1999
|
64 |
2 |
p. 600-607
8 p.
|
artikel
|
| 11 |
De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome
|
Oldridge, Michael
|
|
1999
|
64 |
2 |
p. 446-461
16 p.
|
artikel
|
| 12 |
DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome
|
Potocki, Lorraine
|
|
1999
|
64 |
2 |
p. 471-478
8 p.
|
artikel
|
| 13 |
DNA Variation in a 5-Mb Region of the X Chromosome and Estimates of Sex-Specific/Type-Specific Mutation Rates
|
Anagnostopoulos, Theodore
|
|
1999
|
64 |
2 |
p. 508-517
10 p.
|
artikel
|
| 14 |
Eugenics and the Misuse of Genetic Information to Restrict Reproductive Freedom
|
Reilly, Philip R.
|
|
1999
|
64 |
2 |
p. 335-338
4 p.
|
artikel
|
| 15 |
Fragile Sites—Cytogenetic Similarity with Molecular Diversity
|
Sutherland, Grant R.
|
|
1999
|
64 |
2 |
p. 354-359
6 p.
|
artikel
|
| 16 |
Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy
|
Seri, Marco
|
|
1999
|
64 |
2 |
p. 586-593
8 p.
|
artikel
|
| 17 |
Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease
|
Lewis, Richard Alan
|
|
1999
|
64 |
2 |
p. 422-434
13 p.
|
artikel
|
| 18 |
High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands
|
Rizzu, Patrizia
|
|
1999
|
64 |
2 |
p. 414-421
8 p.
|
artikel
|
| 19 |
HPS Gene Mutations in Hermansky-Pudlak Syndrome
|
Spritz, Richard A.
|
|
1999
|
64 |
2 |
p. 658-659
2 p.
|
artikel
|
| 20 |
Hyperparathyroidism–Jaw Tumor Syndrome: The HRPT2 Locus Is within a 0.7-cM Region on Chromosome 1q
|
Hobbs, Maurine R.
|
|
1999
|
64 |
2 |
p. 518-525
8 p.
|
artikel
|
| 21 |
Identification and Characterization of a Mutation, in the Human UDP-Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia
|
Wohlers, Travis M.
|
|
1999
|
64 |
2 |
p. 462-470
9 p.
|
artikel
|
| 22 |
Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7
|
Speer, Marcy C.
|
|
1999
|
64 |
2 |
p. 556-562
7 p.
|
artikel
|
| 23 |
Imprinting-Mutation Mechanisms in Prader-Willi Syndrome
|
Ohta, T.
|
|
1999
|
64 |
2 |
p. 397-413
17 p.
|
artikel
|
| 24 |
Inherited Colorectal Polyposis and Cancer Risk of the APC I1307K Polymorphism
|
Gryfe, Robert
|
|
1999
|
64 |
2 |
p. 378-384
7 p.
|
artikel
|
| 25 |
Limb Mammary Syndrome: A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies Maps to Human Chromosome 3q27
|
van Bokhoven, Hans
|
|
1999
|
64 |
2 |
p. 538-546
9 p.
|
artikel
|
| 26 |
Linkage of Low-Density Lipoprotein Size to the Lipoprotein Lipase Gene in Heterozygous Lipoprotein Lipase Deficiency
|
Hokanson, John E.
|
|
1999
|
64 |
2 |
p. 608-618
11 p.
|
artikel
|
| 27 |
Mapping of a Familial Moyamoya Disease Gene to Chromosome 3p24.2-p26
|
Ikeda, Hidetoshi
|
|
1999
|
64 |
2 |
p. 533-537
5 p.
|
artikel
|
| 28 |
Mapping of a New Autosomal Dominant Spinocerebellar Ataxia to Chromosome 22
|
Zu, Lan
|
|
1999
|
64 |
2 |
p. 594-599
6 p.
|
artikel
|
| 29 |
Mapping of Primary Congenital Lymphedema to the 5q35.3 Region
|
Evans, Alison L.
|
|
1999
|
64 |
2 |
p. 547-555
9 p.
|
artikel
|
| 30 |
Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
|
Kohlhase, Jürgen
|
|
1999
|
64 |
2 |
p. 435-445
11 p.
|
artikel
|
| 31 |
Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation
|
Ohta, T.
|
|
1999
|
64 |
2 |
p. 385-396
12 p.
|
artikel
|
| 32 |
Mosaicism and Sporadic Familial Adenomatous Polyposis
|
Farrington, Susan M.
|
|
1999
|
64 |
2 |
p. 653-658
6 p.
|
artikel
|
| 33 |
Myotonic Dystrophy: The Role of RNA CUG Triplet Repeats
|
Timchenko, Lubov T.
|
|
1999
|
64 |
2 |
p. 360-364
5 p.
|
artikel
|
| 34 |
Novel Locus for Autosomal Dominant Hereditary Spastic Paraplegia, on Chromosome 8q
|
Hedera, Peter
|
|
1999
|
64 |
2 |
p. 563-569
7 p.
|
artikel
|
| 35 |
Overgrowth Syndromes and the Regulation of Signaling Complexes by Proteoglycans
|
Selleck, Scott B.
|
|
1999
|
64 |
2 |
p. 372-377
6 p.
|
artikel
|
| 36 |
Power of Association and Linkage Tests When the Disease Alleles Are Unobserved
|
Tu, I-Ping
|
|
1999
|
64 |
2 |
p. 641-649
9 p.
|
artikel
|
| 37 |
Prevalence and Phenotype Consequence of FRAXA and FRAXE Alleles in a Large, Ethnically Diverse, Special Education–Needs Population
|
Crawford, Dana C.
|
|
1999
|
64 |
2 |
p. 495-507
13 p.
|
artikel
|
| 38 |
Protein Fate in Neurodegenerative Proteinopathies: Polyglutamine Diseases Join the (Mis)Fold
|
Paulson, Henry L.
|
|
1999
|
64 |
2 |
p. 339-345
7 p.
|
artikel
|
| 39 |
RB1 Gene Mutations in Peripheral Blood DNA of Patients with Isolated Unilateral Retinoblastoma
|
Klutz, Martina
|
|
1999
|
64 |
2 |
p. 667-668
2 p.
|
artikel
|
| 40 |
TDT Clarification
|
Spielman, Richard S.
|
|
1999
|
64 |
2 |
p. 668-669
2 p.
|
artikel
|
| 41 |
The Central Siberian Origin for Native American Y Chromosomes
|
Santos, Fabrício R.
|
|
1999
|
64 |
2 |
p. 619-628
10 p.
|
artikel
|
| 42 |
The Yeast Connection to Friedreich Ataxia
|
Knight, Simon A.B.
|
|
1999
|
64 |
2 |
p. 365-371
7 p.
|
artikel
|
| 43 |
This Month in the Journal
|
Ashkenas, John
|
|
1999
|
64 |
2 |
p. i-ii
nvt p.
|
artikel
|
Tijdschrift beschrijving