Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.
about
The Druze: a population genetic refugium of the Near EastEarly onset torsion dystonia (Oppenheim's dystonia)Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selectionA population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder eventIncreased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type IIIMutations in the SLC3A1 transporter gene in cystinuriaLinkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French CanadiansAshkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic diseaseEvidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humansA high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer familiesA novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effectGenetics in dystonia: an updateOrigin of the PSEN1 E280A mutation causing early-onset Alzheimer's diseaseRecent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.Likelihood analysis of disequilibrium mapping, and related problems.Genetic analysis of type 1 diabetes using whole genome approachesRecent Admixture in an Indian Population of African AncestryNovel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.Deep brain stimulation in childhood: an effective treatment for early onset idiopathic generalised dystonia.Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.Dating rare mutations from small samples with dense marker data.Detecting population growth, selection and inherited fertility from haplotypic data in humans.Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats.The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data.High-throughput mutational analysis of TOR1A in primary dystoniaHow old is this mutation? - a study of three Ashkenazi Jewish founder mutations.High mammographic density in women of Ashkenazi Jewish descent.Genetic susceptibility to non-polyposis colorectal cancer.GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.Genetic anthropology of the colorectal cancer-susceptibility allele APC I1307K: evidence of genetic drift within the Ashkenazim.Genetic determinants of human hypertension.Evidence for extensive transmission distortion in the human genomeMSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.Mutation history of the roma/gypsies.DystoniaInherited and de novo mutations in sporadic cases of DYT1-dystonia.
P2860
Q21144319-DF45DAA0-83FF-4CB7-8A8E-0467233D6505Q21203025-C7D33655-D604-43A8-A80C-3BE44B6EB777Q24532103-8FF01CD1-87F9-4A29-9010-5347166E3E9EQ24534086-6D4C3065-BA90-4A63-BE44-FF775B8CFE93Q24538942-881D44C6-57AF-44E5-AE7A-77320B2172AFQ24540255-7463A962-DFBD-456F-A4B4-A3826A5660C4Q24540769-E0B25547-D628-43A7-AA0B-09B53D12AA8EQ24671677-068F1FE6-986E-4385-8BF9-16FAF6341300Q24673261-BFA8315E-57BB-4505-AE89-BDBD958326FDQ24675390-B0C6968E-03E3-4536-871F-9E024513AD74Q24675652-613AA588-63A8-4593-BA5D-C13E18B2F6BBQ24677659-066E203A-94F1-45AD-ABD5-E7195D2E508DQ24680760-0049BD26-BEF8-4082-949D-87C2944BDB43Q24683169-6FC68AFC-E9A9-4A04-9C7E-E4F744D6A11FQ26866453-3A95D279-C404-4FF6-AEDB-E1AEF2A13548Q28302044-46FFE04D-C707-4450-8749-9D6812267065Q28363162-CD022449-8991-4FA2-BB7E-6F483EBF3A74Q28768493-8C8330C5-7236-459C-9919-E1CB7392F8F1Q28776047-BACC7278-3CE6-41BB-B76C-280AECC65109Q29040595-38DD301F-D44E-4257-87FB-F9BCFB68B250Q30418208-3736DD37-DBA8-41B5-8E05-B7F342B48EE0Q30480691-1D6E3E73-1313-4413-91C4-CFE3B40D0637Q30497374-3B390238-6051-4C0C-A347-23E0FE756ED8Q30586774-3F21A153-461B-4A2B-8750-6C6BF1F1ABF1Q30827825-1411C607-B6E9-45CF-AFD1-A81450E1B260Q30885928-5BD6AEA8-7EAB-4CFC-B595-1D0CA3592D39Q30940248-163D81DF-8697-4CE9-B305-9FE2F0084F72Q31936221-78995DB7-04A9-47CE-9238-1A64929CD1AAQ33417896-DEEBA515-148B-42BF-B057-B6E99B40DA0CQ33578304-63CD92AD-29A1-4D84-B4A5-3AAA51C81EE8Q33739524-33854CB8-5877-4758-ACE1-5C346B9A3740Q33764029-7826E30E-5A67-45AA-8CCF-247644A43CF5Q33870034-DE175C0F-BE2C-41AD-8809-A67337B33267Q33905286-C63077E2-E248-45B2-85EE-D5FE4379AA5AQ33908754-38DCE097-A8AB-4C3D-A14B-23F97EEABE23Q33909560-C165E998-CDC8-4EFA-B340-53033B0BB19CQ33909800-6044EB4E-5EEB-4216-9A6C-0B5A8E69C12CQ33910151-20AAC1B7-3AB4-49A7-8232-6C89D3BC31A6Q33929742-F58883ED-6B4E-46F4-9CCE-4F17FA8444A7Q34125299-7B116A3E-7B63-42D8-B969-058A0A4DC3F5
P2860
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.
description
1995 nî lūn-bûn
@nan
1995 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Genetic analysis of idiopathic ...... om a small founder population.
@ast
Genetic analysis of idiopathic ...... om a small founder population.
@en
Genetic analysis of idiopathic ...... om a small founder population.
@nl
type
label
Genetic analysis of idiopathic ...... om a small founder population.
@ast
Genetic analysis of idiopathic ...... om a small founder population.
@en
Genetic analysis of idiopathic ...... om a small founder population.
@nl
prefLabel
Genetic analysis of idiopathic ...... om a small founder population.
@ast
Genetic analysis of idiopathic ...... om a small founder population.
@en
Genetic analysis of idiopathic ...... om a small founder population.
@nl
P2093
P2860
P356
P1433
P1476
Genetic analysis of idiopathic ...... om a small founder population.
@en
P2093
Breakefield X
Bressman S
P2860
P2888
P304
P356
10.1038/NG0295-152
P407
P50
P577
1995-02-01T00:00:00Z