Works matching DE "SILVER-Russell syndrome"
Results: 80
HORMONE RESEARCH IN PÆDIATRICS.
- Published in:
- 2018
- Publication type:
- Abstract
The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome.
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- Hormone Research in Paediatrics, 2017, v. 88, n. 3/4, p. 201, doi. 10.1159/000477666
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- Publication type:
- Article
Adult Height and Epigenotype in Children with Silver-Russell Syndrome Treated with GH.
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- Hormone Research in Paediatrics, 2013, v. 80, n. 3, p. 193, doi. 10.1159/000354658
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- Publication type:
- Article
The Genetics of 3-M Syndrome: Unravelling a Potential New Regulatory Growth Pathway.
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- Hormone Research in Paediatrics, 2011, v. 76, n. 6, p. 369, doi. 10.1159/000334392
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- Article
Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst.
- Published in:
- 2012
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- Publication type:
- Case Study
Silver-Russell Syndrome: A Review.
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- Neonatal Network, 2017, v. 36, n. 4, p. 206, doi. 10.1891/0730-0832.36.4.206
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- Publication type:
- Article
Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum.
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- American Journal of Clinical Pathology, 2014, v. 142, n. 2, p. 248, doi. 10.1309/AJCPBLMPRXKU1JUE
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- Publication type:
- Article
Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.
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- Journal of Molecular Medicine, 2014, v. 92, n. 7, p. 769, doi. 10.1007/s00109-014-1141-6
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- Publication type:
- Article
Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7.
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- Clinical Case Reports, 2017, v. 5, n. 10, p. 1697, doi. 10.1002/ccr3.1061
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- Publication type:
- Article
Anesthetic Management of a Pediatric Patient with Russell-Silver Syndrome.
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- International Student Journal of Nurse Anesthesia, 2023, v. 22, n. 2, p. 6
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- Article
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.
- Published in:
- 2016
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- Publication type:
- journal article
Adrenarche in Silver-Russell Syndrome: Timing and Consequences.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Metabolic Health and Long-Term Safety of Growth Hormone Treatment in Silver-Russell Syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00866-9
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- Publication type:
- Article
Torticollis as the Main Presentation in a Child with Russell-Silver Syndrome: A Case Report.
- Published in:
- Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/109416
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- Publication type:
- Article
Mosaic UPD(7q)mat in a patient with silver Russell syndrome.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0337-1
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- Publication type:
- Article
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0329-1
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- Publication type:
- Article
Genetic Polymorphism as a Possible Cause of Severe Postoperative Pain.
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- Journal of Clinical Pharmacology, 2024, v. 64, n. 3, p. 378, doi. 10.1002/jcph.2367
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- Publication type:
- Article
A long way to syndromic short stature.
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- Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01737-3
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- Publication type:
- Article
Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology.
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- Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 943, doi. 10.1007/s10815-018-1173-x
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- Publication type:
- Article
Role of DNA methylation in imprinting disorders: an updated review.
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- Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 5, p. 549, doi. 10.1007/s10815-017-0895-5
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- Publication type:
- Article
Different methylation patterns in BWS/SRS cases clarified by MS-MLPA.
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- Molecular Biology Reports, 2013, v. 40, n. 1, p. 263, doi. 10.1007/s11033-012-2057-2
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- Publication type:
- Article
EP14.39: Should we consider prenatal diagnosis of Silver-Russell syndrome?
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- Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 325, doi. 10.1002/uog.18555
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- Publication type:
- Article
The clinical and molecular genetic study of 20 Silver Russell Syndrome cases.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
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- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 240, doi. 10.1038/ejhg.2011.166
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- Publication type:
- Article
Attention deficit hyperactivity disorder and specific learning disability co-occurring in a case with Silver-Russell syndrome.
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- Marmara Medical Journal, 2024, v. 37, n. 3, p. 384, doi. 10.5472/marumj.1572553
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- Publication type:
- Article
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
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- Journal of Human Genetics, 2015, v. 60, n. 6, p. 287, doi. 10.1038/jhg.2015.29
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- Publication type:
- Article
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.
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- Journal of Human Genetics, 2015, v. 60, n. 2, p. 91, doi. 10.1038/jhg.2014.100
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- Publication type:
- Article
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67
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- Publication type:
- Article
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- Published in:
- 2016
- By:
- Publication type:
- journal article
Clinical spectrum of Silver - Russell syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0183-8
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- Publication type:
- Article
Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome.
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- Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 4, p. 475, doi. 10.4274/jcrpe.galenos.2022.2022-9-19
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- Publication type:
- Article
Syndromic Disorders with Short Stature.
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- Journal of Clinical Research in Pediatric Endocrinology, 2014, v. 6, n. 1, p. 1, doi. 10.4274/Jcrpe.1149
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- Publication type:
- Article
upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts.
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- Clinical Genetics, 2020, v. 97, n. 6, p. 902, doi. 10.1111/cge.13727
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- Publication type:
- Article
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
NSD1 duplication in Silver-Russell syndrome ( SRS): molecular karyotyping in patients with SRS features.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 1, p. 73, doi. 10.1111/cge.12803
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- Publication type:
- Article
Isolated hypermethylation of GRB10 (7p12.2) in a Silver-Russell syndrome patient carrying a 20p13 microdeletion.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 4, p. 399, doi. 10.1111/cge.12186
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- Publication type:
- Article
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 4, p. 368, doi. 10.1111/cge.12075
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- Publication type:
- Article
Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 4, p. 326, doi. 10.1111/cge.12143
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- Publication type:
- Article
Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).
- Published in:
- Clinical Genetics, 2012, v. 82, n. 5, p. 494, doi. 10.1111/j.1399-0004.2011.01792.x
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- Publication type:
- Article
Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 4, p. 350, doi. 10.1111/j.1399-0004.2011.01822.x
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- Publication type:
- Article
Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/ H19 in Silver-Russell syndrome.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 4, p. 366, doi. 10.1111/j.1399-0004.2012.01844.x
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- Publication type:
- Article
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 3, p. 298, doi. 10.1111/j.1399-0004.2011.01719.x
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- Publication type:
- Article
Silver-Russell syndrome in siblings with orthodontic management.
- Published in:
- Journal of Cleft Lip Palate & Craniofacial Anomalies, 2023, v. 10, n. 1, p. 31, doi. 10.4103/jclpca.jclpca_13_22
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- Publication type:
- Article
Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65082-1
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- Publication type:
- Article
Russell--Silver syndrome associated with low conus medullaris.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Effect of Cyproheptadine on Weight and Growth Velocity in Children With Silver-Russell Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article