The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.
about
The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndromeSyndromic disorders with short statureSilver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyBehavioural abnormalities in a novel mouse model for Silver Russell Syndrome.Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequenceIntrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasia.Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.Colloquium papers: Transfers and transitions: parent-offspring conflict, genomic imprinting, and the evolution of human life history.A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.Epigenotype-phenotype correlations in Silver-Russell syndromeMulibrey nanism: clinical features and diagnostic criteriaMethylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome.Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotypeAmerican College of Medical Genetics statement of diagnostic testing for uniparental disomyGenome-wide methylation analysis in Silver-Russell syndrome patientsOrthodontic management of silver-russell syndrome. A case report.The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.New developments in Silver-Russell syndrome and implications for clinical practiceCorrection of the axial and appendicular deformities in a patient with Silver-Russel syndrome.Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.Association between birth weight and DNA methylation of IGF2, glucocorticoid receptor and repetitive elements LINE-1 and Alu.Clinical spectrum of Silver - Russell syndrome.Language Impairment Resulting from a de novo Deletion of 7q32.1q33.Long noncoding RNA: significance and potential in skin biology.A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndromeFirst genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.Prosthetic management of a growing patient with Russell-Silver syndrome: a clinical report.Case 2: Why is he not 'thriving'?Russell-Silver syndrome associated with low conus medullarisSilver: russell syndrome with cryptorchidism.Russell-Silver syndrome: twin presentation.Mosaic UPD(7q)mat in a patient with silver Russell syndrome.A novel variant c.97C>T of the Growth Hormone Releasing Hormone Receptor gene causes isolated growth hormone deficiency type Ib.Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.
P2860
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P2860
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
The spectrum of Silver-Russell ...... y and new diagnostic criteria.
@ast
The spectrum of Silver-Russell ...... y and new diagnostic criteria.
@en
type
label
The spectrum of Silver-Russell ...... y and new diagnostic criteria.
@ast
The spectrum of Silver-Russell ...... y and new diagnostic criteria.
@en
prefLabel
The spectrum of Silver-Russell ...... y and new diagnostic criteria.
@ast
The spectrum of Silver-Russell ...... y and new diagnostic criteria.
@en
P2093
P2860
P1476
The spectrum of Silver-Russell ...... y and new diagnostic criteria.
@en
P2093
P2860
P304
P407
P577
1999-11-01T00:00:00Z