(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
about
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted lociSilver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyCongenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromesEMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.Cell signaling pathways in the adrenal cortex: Links to stem/progenitor biology and neoplasia.Genetics of Adrenocortical Development and Tumors.Fetal growth patterns in Beckwith-Wiedemann syndrome.Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report.Genetic and Epigenetic Control of CDKN1C Expression: Importance in Cell Commitment and Differentiation, Tissue Homeostasis and Human Diseases.Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines.Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome.Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.Is Nephron Sparing Surgery Justified in Wilms Tumor With Beckwith-Wiedemann Syndrome or Isolated Hemihypertrophy?The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?
P2860
Q26995324-ACC85603-DBE8-4FA3-AAAE-7AF9912D3617Q28079403-5C462498-AC04-4594-9566-B3AE6E5B0440Q36542924-7AC49FDC-0A05-4969-9AD3-A0FF1C48A7FFQ36634304-8B1A7449-C28D-4B1C-9BFC-A19E1C73B55BQ37264901-158D491B-7888-4C86-B0B3-FD978F4AEDADQ38542163-23C701D4-BD5E-4FD5-ACEC-155A314616AEQ39035325-61EC921F-0A11-4EAB-A3B7-B4C74DB44EC9Q39286333-1AED7328-AA06-456A-B304-582F887DEBB0Q40013334-F715D4E1-18C2-44FF-B306-2A901B4B51AEQ40832937-FA8E4B71-06F9-4948-99BF-2E7940906DE8Q42672527-931372B7-6991-40A6-8459-03E6BD8F688AQ48182075-D1B041C1-815C-4DBD-B51D-5719E142EA94Q48510862-DDFC8801-C701-4E72-A4E3-3F146DF9082FQ50233680-1AC92729-4AFD-431F-9E72-95D16EE90764Q52721971-9367858C-3894-4A05-8749-6F8E7FB4B2F9Q52762732-DA7D2088-475A-43E7-AEC5-DDFAF21F5D4CQ52905405-065FD3B5-2F3E-4A03-9DCC-28D589E725DFQ52984051-9C7A0DE3-0096-41B6-AFF1-B72341F6EC36Q54765551-03CC8652-E709-46E0-81C0-36A9AAD74A9DQ55029198-6FC43663-04A1-422F-A946-2F807F31AA08Q55035298-60FC2AE7-5019-4CF9-B55E-0C49D1528DE7
P2860
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
@ast
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
@en
type
label
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
@ast
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
@en
prefLabel
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
@ast
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
@en
P2093
P2860
P50
P356
P1476
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
@en
P2093
Agostina De Crescenzo
Andrea Bartuli
Andrea Freschi
Angelo Selicorni
Cristina Molinatto
Daniela Melis
Giuseppina Baldassarre
Lidia Larizza
Luciano Calzari
Luigi Tarani
P2860
P2888
P304
P356
10.1038/EJHG.2015.88
P577
2015-04-22T00:00:00Z