Estimates of penetrance for recurrent pathogenic copy-number variations. - Wikidata - awgldk - TriplyDB

Estimates of penetrance for recurrent pathogenic copy-number variations.

Estimates of penetrance for recurrent pathogenic copy-number variations.

http://www.wikidata.org/entity/Q41049988

about

The 15q11.2 BP1-BP2 microdeletion syndrome: a review CNVs in neuropsychiatric disorders 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications.15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.Are copy number variants associated with adolescent idiopathic scoliosis?Refining analyses of copy number variation identifies specific genes associated with developmental delay Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.The penetrance of copy number variations for schizophrenia and developmental delay.Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.TBX6 null variants and a common hypomorphic allele in congenital scoliosis.Influence of aflatoxin B1 on copy number variants in human leukocytes in vitro The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis.Copy number variants, aneuploidies, and human disease Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data.Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis.Evidence that duplications of 22q11.2 protect against schizophrenia The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata.Prenatal diagnosis of chromosomal imbalances.How to use… microarray comparative genomic hybridisation to investigate developmental disorders.Defining and managing incidental findings in genetic and genomic practice.Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications.When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.The genetic assessment of looked after children: common reasons for referral and recent advances.Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice.

P2860

Q28081580-0A6EAD76-BBD1-43C7-A636-9C239159D89D Q28083143-CF087F8A-6284-4B05-8F6F-84EB195C04A7 Q30362781-E3170081-6D39-4541-8DB0-127063DABB1F Q30658913-5F53F2A9-0C27-4D4C-877E-1375272D8E67 Q30847754-14D03FDB-1DEF-4780-86F0-83BE99A6B38B Q34000852-C723D2ED-E1D5-4D8A-BD81-E3D247452CA0 Q34039999-D2239D8D-E68A-44DF-B829-DFC4D9385455 Q34161281-E117E3BB-273A-4189-99A4-B532778ECDF9 Q34254472-8A7FD148-1468-4E37-895B-145E31B29B93 Q34460796-9F0772E9-6210-4367-877D-E384A5B021D4 Q34497136-4A6BD7B1-0762-4796-B620-44592E4B5DE8 Q34815903-17E2C561-7FEB-410B-92C4-F5B425030801 Q34853775-732C568B-1FDF-477F-8DCE-ACE10B6DF23F Q35078357-219F08DF-C840-4388-AD4C-ED6CAF4EA851 Q35503885-893112E6-5E00-4107-AB1B-E6D9D9E4DE7E Q35667083-B7B2CE57-1DAD-4171-8CA0-C5E8914A4378 Q35667103-0537C776-E011-4C0A-BF2E-E3AA26519681 Q35694174-8A0A4522-4C84-4CC2-A86A-E75587AF685C Q36141110-06AA128C-9BC1-478E-82DA-EAF9C1510A1D Q36189099-EB38F1E4-1991-445A-BDBD-3217F3661DDE Q36342668-792C43F3-BA7A-40C4-B946-A6C59BD3CC84 Q36859420-887C38C4-AAC8-4B0C-9535-546D773B213C Q36960018-40FD02C6-84E4-48DE-A57A-6FC742703F98 Q36965449-34AF2EFC-F138-43AA-8D69-99E5014A3F56 Q37058545-874A1675-AC80-4DA7-86B7-E1ED16ACACF5 Q37187461-F122F1F9-3C07-4080-A3E7-00438D13BA63 Q37345711-BBDBCE28-D159-439E-8B14-CD53EB3DBE2A Q37414526-07CB16CC-BEC0-4F77-9F04-8311AAD075A5 Q37421257-4834D5F9-C6F1-4191-8AEA-12DE0B899C55 Q37708396-18C3A10E-0830-485D-AB85-CF96F49A51EC Q37726366-C04AC3BE-3963-4658-A955-9A31FEA76B17 Q38209047-ABC19015-2508-469E-A9BC-7690D41B05CE Q38246111-1D214F5C-7294-466D-AFFC-23D326906C57 Q38250263-3AC430E5-5AA8-46BE-955D-FFA21899B6C0 Q38559682-77ABF862-8E23-4BA6-92C2-E9734AB970BD Q38616673-2D4814D2-C211-4F82-9F11-878FBA350946 Q38670598-D5468861-2E83-4AEE-8396-84650FCFD5E7 Q38671614-35CD7880-7A43-4481-84C5-303737E228A6 Q38723850-F91EAF33-DD65-4C58-8217-52AF481BF766 Q38795003-239A1139-F551-487B-B97F-3CD56FE03476

P2860

Estimates of penetrance for recurrent pathogenic copy-number variations.

http://www.wikidata.org/entity/Q41049988

description

2012 nî lūn-bûn

@nan

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

2012年论文

@zh

2012年论文

@zh-cn

name

Estimates of penetrance for recurrent pathogenic copy-number variations.

@en

type

label

Estimates of penetrance for recurrent pathogenic copy-number variations.

@en

prefLabel

Estimates of penetrance for recurrent pathogenic copy-number variations.

@en

P1433

Q41049988-B75FA028-5F2B-41AD-BAEA-75D164B2CC05

P1476

Q41049988-7B7F2D1F-9575-42C5-B6C3-D9931B071724

P2093

Q41049988-85A48F27-5035-45E0-A107-1020F3242265

Q41049988-912284AB-63E0-4D02-AAF2-0CC06B098250

Q41049988-A430037E-EE7A-4E2C-A283-E3C8A1BB30A9

Q41049988-F1C05D0C-F9F8-40FD-B8A6-CE40D14F9C30

Q41049988-FEB37AE7-ABA6-4AF6-8002-6CC03A141410

P2860

Q41049988-086E9884-D0B7-4AA2-B3E6-5BB32A9E352C

Q41049988-0B1D8B28-B426-48A7-B8E6-28A6C16995FC

Q41049988-0ECB936A-4AB6-47AD-88D5-09485A9E762D

Q41049988-21035426-8DAC-49AD-85AE-720DE6FACF60

Q41049988-27753DFF-B60A-4424-AB1E-6DC496894BB6

Q41049988-2BAEDFC2-BBBE-4EE1-8FF1-94498CD26F87

Q41049988-4F1BF2CE-DDE9-4270-85BF-6B85C91567AC

Q41049988-4F78D375-9379-48AB-9385-2EE073A9C266

Q41049988-50A44004-C9C2-4EE1-9DD1-CA8223B12099

Q41049988-7BC27DDE-5D2B-4736-84DD-EAB52B43B955

P2888

Q41049988-7F37E004-C878-4A12-8336-39246B1C6D97

P304

Q41049988-41A479D2-C845-4FD6-9F1D-0182A20FEAA7

P31

Q41049988-3FEDB614-8B87-426F-8E27-15C2199432DB

Q41049988-e1cd0591-83b7-422c-add8-068f259c0cb0

P356

Q41049988-0776B75A-E869-42FB-BEC3-7C14B95A2464

P407

Q41049988-98B973FB-9236-4912-9759-D3E228364A06

P433

Q41049988-EF113136-566B-421A-9243-518E28489D4C

P478

Q41049988-17CD6E69-A46B-4A5D-B3EC-5A255DA273C9

P577

Q41049988-4F71BB65-157C-44EB-8096-E924293B7D25

P5875

Q41049988-0CFCB2C2-159F-4312-9F2B-D195C67EAEE9

P6179

Q41049988-AEF3796C-1F68-4B37-B820-8C3D4DDF3A12

P698

Q41049988-D54194C6-81FB-4BC2-BD72-42FE4BD42C87

P932

Q41049988-88671310-FBCF-49F5-8C32-0490B076AA0E

P356

P1433

Genetics in Medicine

P1476

Estimates of penetrance for recurrent pathogenic copy-number variations.

@en

P2093

Bradley P Coe

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

Evan E Eichler

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

Howard Cuckle

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

Jill A Rosenfeld

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

Lisa G Shaffer

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

P2860

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

A copy number variation morbidity map of developmental delay

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Clinical genetic testing for patients with autism spectrum disorders

Genetic disorders in children and young adults: a population study.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.

P2888

P304

478-481

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

P31

scholarly article

P356

10.1038/GIM.2012.164

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

P407

P433

6

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

P478

15

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

P577

2012-12-20T00:00:00Z

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

P5875

233964518

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

P6179

1045189328

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

P698

23258348

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

P932

3664238

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