Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://www.nature.com/articles/s41431-021-00927-5.pdf
Reference38 articles.
1. Gaccioli F, ILMH Aye, Sovio U, Charnock-Jones DS, GCS Smith. Screening for fetal growth restriction using fetal biometry combined with maternal biomarkers. Am J Obstet Gynecol. 2018;218:S725–37.
2. Giabicani E, Pham A, Brioude F, Mitanchez D, Netchine I. Diagnosis and management of postnatal fetal growth restriction. Best Pr Res Clin Endocrinol Metab. 2018;32(Aug):523–34.
3. Wakeling EL, Brioude F, Lokulo-Sodipe O, O’Connell SM, Salem J, Bliek J, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13:105–24.
4. Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, et al. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet. 2015;52(Jul):446–53.
5. Netchine I, Rossignol S, Dufourg M-N, Azzi S, Rousseau A, Perin L, et al. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab. 2007;92:3148–54.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels;European Journal of Endocrinology;2023-09-01
2. Genomics elucidates both common and rare disease aetiology;European Journal of Human Genetics;2021-11-25
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