FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States - Test2 - elhamkhani - TriplyDB

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

http://www.wikidata.org/entity/Q33781086

about

Fragile X spectrum disorders Fragile X-associated tremor/ataxia syndrome.The multiple molecular facets of fragile X-associated tremor/ataxia syndrome Fragile X syndrome Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations Review of targeted treatments in fragile X syndrome Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders The neurobiology of the Prader-Willi phenotype of fragile X syndrome Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)Advanced technologies for the molecular diagnosis of fragile X syndrome Memantine effects on verbal memory in fragile X-associated tremor/ataxia syndrome (FXTAS): a double-blind brain potential study.Differential increases of specific FMR1 mRNA isoforms in premutation carriers Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited.Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety.CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.Associated features in females with an FMR1 premutation AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome Genomic studies in fragile X premutation carriers.Low-normal FMR1 CGG repeat length: phenotypic associations.Genes and genetic testing in hereditary ataxias.New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial.Distribution of AGG interruption patterns within nine world populations.Parent-delivered touchscreen intervention for children with fragile X syndrome.Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation.Fragile X protein in newborn dried blood spots Molecular diagnosis of Fragile X syndrome in subjects with intellectual disability of unknown origin: implications of its prevalence in regional Pakistan.Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.Psychosis and catatonia in fragile X: Case report and literature review.Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands.Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo Identification of a male with fragile X syndrome through newborn screening Trajectory and Predictors of Depression and Anxiety Disorders in Mothers With the FMR1 Premutation."It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.

P2860

Q26824376-FDE8843C-FA70-41AE-9BAA-99AD1989F52B Q26852667-D50B5544-4A56-443D-BB73-7A08A035CEEE Q26852891-C1C18D55-5C10-492C-91B7-D4E9CA1F5550 Q26995168-1F7B7BA5-BDFD-4444-A288-5904FF223C03 Q27337360-A61958DD-1447-4BC8-8D45-B4FEC2A843B9 Q28073062-39DF4775-4344-4C20-878C-537BA2F0198C Q28077180-3F8CC666-F2AB-4B81-8369-D23AF86F31F1 Q28077980-8E7B4658-CB3D-430E-8B07-BC68D4E2131B Q28078294-DDA999DA-F8EF-45B9-98A1-ED5078BB1F03 Q28079967-96177B8B-10CE-4CAC-9ABD-41DF6818FCB8 Q28087781-6556E771-0817-41BE-9BE3-EC5422AD668C Q30593573-2F07EE77-5640-4FE8-826A-C87ACBFEBE64 Q30638597-FD229559-BF17-466C-BC04-AD9DCABB6DB3 Q33604446-0CAEDB44-B7A5-47C4-B4DD-1516A5EC45C4 Q33629743-311B167F-20B0-45D4-A8B2-85E4C3FFC416 Q33649307-291A4655-F4FA-41EC-B0F0-361B16CBDFB4 Q33728963-665AE2FD-227E-4B02-84CE-552BA9150279 Q33775794-F052C91D-48FA-4368-90CC-9A96BDB6B433 Q34000722-A92B023A-E963-4816-9D4E-C657B85C05F9 Q34020825-940C571F-D960-44D7-B82D-49B5F19FC66F Q34055453-AB9E5190-7743-4949-92C1-7453D348176A Q34101247-6CFA8AF2-74A2-4A29-B0A6-5A4241647174 Q34153985-DA4BF9E9-C192-4281-B92D-2B6FB4D74AFC Q34347658-C68FA49E-38E8-45A7-8381-97A397CD7043 Q34359862-B7302F6D-20CE-4559-A055-1B36F9A4E065 Q34575595-AFFC6680-08CB-4BD2-BF0D-668425EB8501 Q34977377-E3BC040E-046A-45F4-8771-CEB335278C2D Q34983517-8AED8356-0F06-4F10-934C-0696061ACA8F Q34983525-482D20AA-C0A9-4E12-95E1-625408C825D9 Q35348138-3B7DDC98-E05F-4752-9FCA-7F0B80811F09 Q35370016-6A5A927C-3775-491D-922B-E54BF99A070D Q35413928-ED64DDD5-7B5A-4C96-8E4C-056FBA3B7323 Q35541848-15E0C1E5-610C-4174-A772-42F5661F148F Q35771116-AC22B4DF-3C6F-4324-8CF0-084954B07AFB Q35894764-C7A194C7-F7A9-4910-B60A-7EA9DC716B4B Q36031757-BACC9A4D-8D63-4630-891B-DEBBFC1A5966 Q36188438-9C15213F-E490-4151-8FCF-090F635FDB11 Q36322068-8175F49C-8748-40F3-93B2-E97C26B883C4 Q36522702-8AFD995A-CFB0-4AB8-A837-ACE34A0861C6 Q36698398-C3D6B07C-5BFD-4AF4-B6B2-850E9EB94928

P2860

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

http://www.wikidata.org/entity/Q33781086

description

2012 nî lūn-bûn

@nan

2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

name

FMR1 CGG allele size and preva ...... screening in the United States

@ast

FMR1 CGG allele size and preva ...... screening in the United States

@en

type

label

FMR1 CGG allele size and preva ...... screening in the United States

@ast

FMR1 CGG allele size and preva ...... screening in the United States

@en

prefLabel

FMR1 CGG allele size and preva ...... screening in the United States

@ast

FMR1 CGG allele size and preva ...... screening in the United States

@en

P1433

Q33781086-14343567-97C9-4F88-BA55-19DA913384AA

P1476

Q33781086-35985ACE-EC95-4D5F-95F9-ABF99F10D32D

P2093

Q33781086-0CC7F24D-EB62-49FB-809F-272172E6852C

Q33781086-40EF2A88-426C-4623-806A-5E08389DA381

Q33781086-4A931FC3-E783-450E-8780-753BFC6D47CA

Q33781086-72250783-A8CE-4023-ACC6-E13517D2512A

Q33781086-9E95DE56-2AD5-4659-A187-0F2FE8B6FB92

Q33781086-A83A89E3-B57F-468E-8AD1-677FB5201C18

Q33781086-C3F76D1E-B396-4154-8747-5F4AFC6977B3

Q33781086-CA26D816-0006-4827-A1C5-92D6E3540D3C

Q33781086-D07FA630-BADF-4D7B-A149-111DE77E92F1

Q33781086-F53F4821-874C-4EF1-8D63-4C7679C181A5

P2860

Q33781086-052901EA-A94B-4F91-B413-8677821B633E

Q33781086-0598C161-8331-4CDF-B7A4-9F0D9DE44F64

Q33781086-074FD7D5-F8C2-4303-83DE-C6B1E535EA8D

Q33781086-085D5E47-BA95-4497-8AB2-EFECA149AD73

Q33781086-0887758A-DF5C-423A-A1A8-7FFF2658B0CA

Q33781086-099D63AF-65C3-49A1-B55B-46096911BE01

Q33781086-13260B5D-5DFD-4099-BBD0-ABC9EBD65CB0

Q33781086-1DF17F4B-BABD-4D43-9E89-E47AADDA0D3C

Q33781086-271CBC6C-3B67-4407-BC92-8487DE59297A

Q33781086-31731478-A5D8-4F53-825B-E02C0CCFD7D8

P2888

Q33781086-A94A0253-A64B-4F1C-9986-461E71626A5F

P304

Q33781086-A10DAF0F-DB4A-4740-ACCB-7E6220584F8C

P31

Q33781086-84411724-FF8B-4377-B37E-C2518AF55B08

P356

Q33781086-412E0BCB-0323-4BB3-8122-EEA608C1909D

P433

Q33781086-99289D79-1F87-4EBF-9CA0-F5792A7A77CB

P478

Q33781086-E350036B-5F3A-469B-B94D-4F31679C0975

P577

Q33781086-83F70F14-7C89-475F-B99E-16E175C7133F

P5875

Q33781086-973044D1-97F1-4079-BC84-2FFB8B3329CA

P6179

Q33781086-7F390D54-BBF2-4E36-891D-1F795A76F813

P698

Q33781086-1E3B9FD2-6556-472E-8CDB-A05D5E4D9E6A

P932

Q33781086-517A73A2-39AF-4607-83C2-B1653A4DAB79

P356

P1433

Genome Medicine

P1476

FMR1 CGG allele size and preva ...... screening in the United States

@en

P2093

Danh Nguyen

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

Don B Bailey

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

Elizabeth Berry-Kravis

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

Flora Tassone

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

Jennifer Laffin

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

Joyce Lo

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

Ka Pou Iong

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

Lisa Y Mu

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

Louise W Gane

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

Randi J Hagerman

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

P2860

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome.

Fragile X syndrome and targeted treatment trials.

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.

Broad clinical involvement in a family affected by the fragile X premutation.

P2888

P304

100

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

P31

scholarly article

P356

10.1186/GM401

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

P433

12

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

P478

4

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

P577

2012-12-21T00:00:00Z

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

P5875

233972954

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

P6179

1003237426

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

P698

23259642

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

P932

4064316

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