Found: 23
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Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.
- Published in:
- Clinical Epigenetics, 2017, v. 9, p. 1, doi. 10.1186/s13148-017-0350-6
- By:
- Publication type:
- Article
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 8, p. e3121, doi. 10.1210/clinem/dgac319
- By:
- Publication type:
- Article
Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 91, doi. 10.1038/jhg.2010.142
- By:
- Publication type:
- Article
Monozygotic female twins discordant for Silver–Russell syndrome and hypomethylation of the H19-DMR.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 10, p. 950, doi. 10.1007/s10038-008-0329-4
- By:
- Publication type:
- Article
Metacarpophalangeal pattern profile analysis for a 3‐month‐old infant with Feingold syndrome 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 952, doi. 10.1002/ajmg.a.62038
- By:
- Publication type:
- Article
Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 496, doi. 10.1002/ajmg.a.38556
- By:
- Publication type:
- Article
Mosaic upd(7)mat in a patient with Silver-Russell syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 465, doi. 10.1002/ajmg.a.34404
- By:
- Publication type:
- Article
Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060105
- By:
- Publication type:
- Article
Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2–H19 domain in bodies and placentas.
- Published in:
- Journal of Molecular Medicine, 2008, v. 86, n. 10, p. 1171, doi. 10.1007/s00109-008-0377-4
- By:
- Publication type:
- Article
Neonatal intestinal volvulus and preduodenal portal vein associated with situs ambiguus: Report of a case.
- Published in:
- Surgery Today, 2011, v. 41, n. 5, p. 726, doi. 10.1007/s00595-010-4327-8
- By:
- Publication type:
- Article
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.
- Published in:
- Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01744-5
- By:
- Publication type:
- Article
Allele-specific binding of ZFP57 in the epigenetic regulation of imprinted and non-imprinted monoallelic expression.
- Published in:
- Genome Biology, 2015, v. 16, n. 1, p. 112, doi. 10.1186/s13059-015-0672-7
- By:
- Publication type:
- Article
Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00206-9
- By:
- Publication type:
- Article
A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-021-00180-8
- By:
- Publication type:
- Article
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00178-2
- By:
- Publication type:
- Article
Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00112-y
- By:
- Publication type:
- Article
A Familial Case of a Whole Germline CDC73 Deletion Discordant for Primary Hyperparathyroidism.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 1, p. 56, doi. 10.1159/000495800
- By:
- Publication type:
- Article
Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13148-020-00949-8
- By:
- Publication type:
- Article
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00865-x
- By:
- Publication type:
- Article
Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2007, v. 24, n. 4, p. 131, doi. 10.1007/s10815-006-9096-3
- By:
- Publication type:
- Article
Exploration of hydroxymethylation in Kagami- Ogata syndrome caused by hypermethylation of imprinting control regions.
- Published in:
- Clinical Epigenetics, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13148-015-0124-y
- By:
- Publication type:
- Article
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.
- Published in:
- Cancer Science, 2023, v. 114, n. 7, p. 2993, doi. 10.1111/cas.15799
- By:
- Publication type:
- Article