Further segregation analysis of the fragile X syndrome with special reference to transmitting males. - Wikidata - wikimedia - TriplyDB

Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

http://www.wikidata.org/entity/Q34192224

about

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22 Simple tandem DNA repeats and human genetic disease Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome The unstable repeats--three evolving faces of neurological disease Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology Progress toward therapeutic potential for AFQ056 in Fragile X syndrome.The fragile X: progress toward solving the puzzle Two progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndrome Molecular and cellular genetics of fragile X syndrome.Molecular cloning and analysis of the fragile X region in man Experience with direct molecular diagnosis of fragile X.Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation Genotype prediction in the fragile X syndrome.Twelve families with fragile X(q27)Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions.The fragile X syndrome in a large family. I. Cytogenetic and clinical investigations.Research strategies in human behaviour genetics.The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.Clinical features and reproductive patterns in fragile X female heterozygotes.FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.DNA testing for fragile X syndrome: implications for parents and family.Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.Biology of the fragile X mental retardation protein, an RNA-binding protein.Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation Genetic factors in child psychiatric disorders--II. Empirical findings.Microdissection of the fragile X region.Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.Fragile-X syndrome: unique genetics of the heritable unstable element A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).Parental inheritance and psychological disability in fragile X females.Population genetic consequences of the fragile-X syndrome, based on the X-inactivation imprinting model.Methylation status of genes flanking the fragile site in males with the fragile-X syndrome: a test of the imprinting hypothesis.Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.Genetic mapping of two new DNA markers in Xq26-q28 relative to the fragile-X syndrome locus Unaffected carrier males in families with fragile X syndrome.A comparison of fragile X expression in lymphocyte and lymphoblastoid cultures.

P2860

Q24517924-510DB08F-73FA-4233-B97D-950A782102F1 Q24561717-AF2B6B24-7507-459B-91ED-91198642375E Q24608468-0707189C-59D5-45A1-AF78-E14DD99C178E Q26739927-52D0E032-68DD-407E-927F-211A9799FDE0 Q27025923-03D0DACE-16BC-4A37-9686-6ADB4FA3E2BA Q28073062-9D22FCE0-3EFF-4068-8760-C4A6D3777224 Q30249226-47C2B326-B98F-4041-8C24-20AED962E9E6 Q30383696-87CE6330-CBA9-4239-9B7B-26B443FF9405 Q33347811-924B09BB-000D-44F1-B579-A53C0D639AE4 Q33495024-E21C4169-3105-454E-BDCB-18DB0C878FBD Q33537385-1BFB530D-CE53-42C4-B2E4-3558A6350207 Q33563651-BD4B3464-A987-49AC-83F1-F62E079198D1 Q33594081-DA8BC65F-A879-4D3C-9E9B-C6ABAE80E781 Q33594670-FDA34395-F57C-4D47-9C18-307F89309C46 Q33597892-50F1DAE2-AF09-46DC-9981-B0EFA6084723 Q33673692-2B6535C5-CDDC-4001-8C83-4C93657C29A5 Q33674079-41A2CAEE-6352-4E52-8454-2D0A1AD23292 Q33674086-88A5E03A-101C-4A4A-A128-DFE81C946D18 Q33674429-80ECA9AA-BD63-49E7-978A-FC4346FFADF3 Q33675389-ED6EB097-6F32-4350-9354-1F931B645636 Q33676947-7BE7F330-F821-40AB-BF7A-75083C58E10F Q33677311-21B7642D-22EB-428A-AB95-00462B25F2CC Q33679718-92747348-7BC6-4754-A37E-41FD61BB551F Q33680162-09F88BF4-912D-45F2-AAFA-95098CAF5B0B Q33765369-FF528EE2-AA13-4C1D-A300-487D944408AA Q33953550-184EF7C9-5C2A-46AA-8590-CF344071F771 Q34203822-8CA2B68F-9969-4DF4-A8CD-9D19871D3CC6 Q34778279-8561B62A-7411-409C-BDC3-71B3E8F8659F Q35194923-D414E6B7-052E-4E67-A299-54D4AAFAB5E1 Q35195444-D53F5F7C-1DC0-4425-8328-97C37E08C946 Q35195709-BD353D4E-11E5-40E8-8E20-B2BCDFCA9CB4 Q35196404-5E4238C1-6DDC-470F-B66A-8D182F70A816 Q35197242-6368FCDC-5AE1-45F5-AF5A-907C8255CAB1 Q35197419-C927ABC3-77BF-44AE-B690-0634BD436DBA Q35197904-0AA5BDFF-7A55-4E27-8E17-5F117737943F Q35197941-44A63ABE-3795-4A05-9247-720CCE038731 Q35198120-C53448F7-1EB9-4909-9205-27B34AD81828 Q35198456-F96A2605-4474-4E73-A33A-F4FDD87C9FD5 Q35200582-CCDEF3FE-D294-4858-B958-050682975FBC Q35200823-80AE189B-6042-4387-BEDB-6765BD85BFE8

P2860

Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

http://www.wikidata.org/entity/Q34192224

description

1985 nî lūn-bûn

@nan

1985 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

1985 թվականի հունվարին հրատարակված գիտական հոդված

@hy

1985年の論文

@ja

1985年論文

@yue

1985年論文

@zh-hant

1985年論文

@zh-hk

1985年論文

@zh-mo

1985年論文

@zh-tw

1985年论文

@wuu

name

Further segregation analysis o ...... ference to transmitting males.

@ast

Further segregation analysis o ...... ference to transmitting males.

@en

Further segregation analysis o ...... ference to transmitting males.

@nl

type

label

Further segregation analysis o ...... ference to transmitting males.

@ast

Further segregation analysis o ...... ference to transmitting males.

@en

Further segregation analysis o ...... ference to transmitting males.

@nl

prefLabel

Further segregation analysis o ...... ference to transmitting males.

@ast

Further segregation analysis o ...... ference to transmitting males.

@en

Further segregation analysis o ...... ference to transmitting males.

@nl

P1433

Q34192224-C9F2BD5F-9D57-480D-8100-026F37C918D7

P1476

Q34192224-917E95DF-A84A-4BC3-913F-1BA508EF579B

P2093

Q34192224-010CF919-4445-4029-B032-E70AF2E9ED84

Q34192224-1C68F366-A677-4B3F-ADF7-E74D522C25D7

Q34192224-461F0C70-30A9-405B-9053-5B93E6316FDE

Q34192224-7788D866-A847-4F4B-9F4A-4A181DB42A33

Q34192224-82015A75-5A19-40EF-9296-FCC7861BC1D4

Q34192224-8434C05D-9229-4E61-880D-859415FDD7F2

Q34192224-AA91E4AA-A614-4897-B9E1-BD284BF249F5

Q34192224-E9975788-0AE1-4D64-BCCA-FEED7BA23CFC

Q34192224-FDE97798-D907-45FE-94ED-C9DF20FE6B5E

P2888

Q34192224-0693C8BB-EE74-4049-8C64-D230AD3A5FAE

P304

Q34192224-768959FF-CBC6-4BFB-9228-8E54591AF7C7

P31

Q34192224-5F23AC91-BA8B-4050-9657-0166ADAFFBAE

P356

Q34192224-721972A0-AD7F-429B-BD2D-581F10E8BA8B

P433

Q34192224-6E0AFBC0-70E0-409E-9AB3-95A554EABF93

P478

Q34192224-EBA57241-86F1-46FC-A357-9149BAC72AA0

P50

Q34192224-A9274B6E-08B1-459D-9056-B4E6FDC61C27

P577

Q34192224-802F27D6-621B-47D8-BFEE-E05E7253D0CB

P6179

Q34192224-4DCE02CA-A9B4-4E9A-9C60-A17872C293F0

P698

Q34192224-DEB51405-BA09-481E-BA2D-2E62A8D43DAD

P356

P1433

P1476

Further segregation analysis o ...... ference to transmitting males.

@en

P2093

Froster-Iskenius U

http://www.w3.org/2001/XMLSchema#string

Howard-Peebles PN

http://www.w3.org/2001/XMLSchema#string

Jacobs PA

http://www.w3.org/2001/XMLSchema#string

Nielsen KB

http://www.w3.org/2001/XMLSchema#string

Partington MW

http://www.w3.org/2001/XMLSchema#string

Sherman SL

http://www.w3.org/2001/XMLSchema#string

Sutherland GR

http://www.w3.org/2001/XMLSchema#string

Turner G

http://www.w3.org/2001/XMLSchema#string

Watson M

http://www.w3.org/2001/XMLSchema#string

P2888

P304

289-299

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/BF00291644

http://www.w3.org/2001/XMLSchema#string

P433

4

http://www.w3.org/2001/XMLSchema#string

P478

69

http://www.w3.org/2001/XMLSchema#string

P50

Newton Ennis Morton

P577

1985-01-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P6179

1004855369

http://www.w3.org/2001/XMLSchema#string

P698

3838733

http://www.w3.org/2001/XMLSchema#string