Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.
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Methylation of ZNF261 as an assay for determining X chromosome inactivation patternsTwo novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.Skewed X inactivation and IVF-conceived infantsX-chromosome inactivation patterns in Korean women with idiopathic recurrent spontaneous abortion.Comparison of X-chromosome inactivation patterns in multiple tissues from human females.The causes and consequences of random and non-random X chromosome inactivation in humans.Imprinting-mutation mechanisms in Prader-Willi syndromeCopy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation.Three new loci for determining x chromosome inactivation patterns.X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.Clonality analysis of synchronous lesions of cervical carcinoma based on X chromosome inactivation polymorphism, human papillomavirus type 16 genome mutations, and loss of heterozygosity.Skewed X-chromosome inactivation in patients with esophageal carcinoma.Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies.Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.Skewed X chromosome inactivation and trisomic spontaneous abortion: no associationExpanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyIs gestation in Prader-Willi syndrome affected by the genetic subtype?How has the study of the human placenta aided our understanding of partially methylated genes?Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.Comparison of the role of dopamine, serotonin, and noradrenaline genes in ADHD, ODD and conduct disorder: multivariate regression analysis of 20 genes.Intragenomic conflict and immune tolerance: do selfish X-linked alleles drive skewed X chromosome inactivation?Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.Clinical features and X-inactivation in females heterozygous for creatine transporter defect.Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases.An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.X-chromosome inactivation patterns in females with Prader-Willi syndrome.A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndromeThe degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene
P2860
Q28184279-2484B513-38F3-4E37-814E-C6B5C40A4ED4Q30374247-8C9381F3-CA0E-4A82-9D33-6C5EEA9DAE5BQ30435048-F60A314E-21BC-4A9B-B463-FDC4BFDFFF8DQ33654747-5A8140CE-AC6E-47E2-B950-4C7BD495069EQ33848612-BC6287E7-AEF6-4544-B8C2-36BDF5D53F81Q34120150-56BBD678-237A-4C9F-9A43-DC98EB39FF55Q34388796-BB3208B2-A43C-4FE6-8EB5-A20DB2A12B4FQ35045150-1B358407-DE7E-4D7D-A05D-0B05F25CC0F9Q35169283-D8A7EBD4-2C28-403A-ACE6-A94B1B2FACC8Q35883346-8FF887BD-AD8A-4760-A8D7-1BA158FFDF12Q36370225-8379AF8C-F525-4679-9E93-089A304515C2Q36808507-AD59CA6E-9A97-4D5D-9CFD-C312C0ED912EQ37219702-9604D012-1587-49DB-B65E-7991C77BDB53Q37296765-ABC5F3B2-E5E8-4044-80F5-6B529F98ED7AQ37301172-C67C1FE4-5ADC-4F70-9D47-0029C4F5140DQ37375715-8F33F478-4766-41ED-B1CC-572ECAEB5B74Q37399911-8DF441ED-2B82-4067-B550-57285871A58EQ37638794-D12B88DB-A1B0-4C24-843C-56DA5DA52F81Q37687732-215862F9-B523-4792-A50F-E9458FD36EEFQ38985861-B573A06C-7F4D-46C6-BBCD-A4184E478283Q40736578-32553D3B-B66A-4565-81EC-85F057C198D7Q47592384-379323E0-C37C-4929-8DA8-7775EF0E2AADQ47865460-02F81C36-8A9B-4294-9A0C-7FBCE4A52E5EQ48284886-CCCD0EE2-92B9-4C12-8A6D-85EF9BAF86CAQ48888564-E4651B5E-50DA-4E8B-A3FB-AFA9FE7039F7Q50687726-8289A815-5F41-492D-90B6-CECBFC418ACCQ51368431-0CC534EA-13EC-4572-91B4-8377C1F8EB25Q51561465-1FA9850A-7ACD-4693-BFD0-B37CA8A2CE98Q52019016-1F3EB709-ACED-4951-84D1-15817F3454E0Q52142100-F1CD5AB4-D89C-4DC5-99CD-854B7B8034E3Q52147061-35C376B0-BEEB-483E-AFBC-36AB6134064FQ53594092-D686C9D7-8BCC-4705-B098-58693F0737A7Q57387311-E4B23A58-48BD-4C02-B33A-BCC4A7987E20Q57632581-D1236635-3714-43C0-9D24-4EBF25D2DA49
P2860
Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.
description
1997 nî lūn-bûn
@nan
1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Skewed X-chromosome inactivati ...... confined placental mosaicism.
@ast
Skewed X-chromosome inactivati ...... confined placental mosaicism.
@en
type
label
Skewed X-chromosome inactivati ...... confined placental mosaicism.
@ast
Skewed X-chromosome inactivati ...... confined placental mosaicism.
@en
prefLabel
Skewed X-chromosome inactivati ...... confined placental mosaicism.
@ast
Skewed X-chromosome inactivati ...... confined placental mosaicism.
@en
P2093
P2860
P356
P1476
Skewed X-chromosome inactivati ...... confined placental mosaicism.
@en
P2093
Kalousek DK
Langlois S
Peñaherrera M
Robinson WP
P2860
P304
P356
10.1086/301651
P407
P577
1997-12-01T00:00:00Z