Works matching DE "SILVER-Russell syndrome"
Results: 80
Effect of Cyproheptadine on Weight and Growth Velocity in Children With Silver-Russell Syndrome.
- Published in:
- 2018
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- Publication type:
- journal 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
Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion.
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- Case Reports in Urology, 2016, p. 1, doi. 10.1155/2016/6017636
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- Publication type:
- Article
THE DEGREE OF H19 HYPOMETHYLATION IN CHILDREN WITH SILVER-RUSSEL SYNDROME (SRS) IS NOT ASSOCIATED WITH THE SEVERITY OF PHENOTYPE AND THE CLINICAL SEVERITY SCORE (CSS).
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- Contributions of Macedonian Academy of Sciences & Arts, 2013, v. 34, n. 2, p. 79
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- Publication type:
- Article
Adrenarche in Silver-Russell Syndrome: Timing and Consequences.
- Published in:
- 2017
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- Publication type:
- journal article
Genome-wide methylation analysis in Silver-Russell syndrome patients.
- Published in:
- Human Genetics, 2015, v. 134, n. 3, p. 317, doi. 10.1007/s00439-014-1526-1
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- Publication type:
- 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
Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA?
- Published in:
- 2016
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- Publication type:
- journal article
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.
- Published in:
- Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S001667231900003X
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- Publication type:
- Article
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
- Published in:
- 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.
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- Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67
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- Publication type:
- Article
The clinical and molecular genetic study of 20 Silver Russell Syndrome cases.
- Published in:
- 2013
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- Publication type:
- Abstract
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- 2013
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- Publication type:
- Abstract
Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.
- Published in:
- European Journal of Endocrinology, 2015, v. 172, n. 2, p. 151, doi. 10.1530/EJE-14-0541
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- Publication type:
- Article
Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.
- Published in:
- 2023
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- 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.
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- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0183-8
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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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- 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
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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- Article
Russell--Silver syndrome associated with low conus medullaris.
- Published in:
- 2016
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- Publication type:
- Case Study
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
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- 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).
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- 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.
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- 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.
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- 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
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
- Published in:
- 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
Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review.
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- Current Pediatric Reviews, 2023, v. 19, n. 2, p. 157, doi. 10.2174/1573396318666220315142542
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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.
- Published in:
- 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
De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Twin Legacies: Victor and Vincent McKusick/Twin Studies: Twinning Rates I; Twinning Rates II; MZ Twin Discordance for Russell-Silver Syndrome; Twins' Language Skills/Headlines: Babies Born to Identical Twin Couples; Identity Exchange; Death of Princess Ashraf (Twin); Yahoo CEO Delivers Identical Twins.
- Published in:
- 2016
- By:
- Publication type:
- journal article
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.
- Published in:
- 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.
- Published in:
- 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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- Publication type:
- Article
Anesthetic Management of a Pediatric Patient with Russell-Silver Syndrome.
- Published in:
- International Student Journal of Nurse Anesthesia, 2023, v. 22, n. 2, p. 6
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- Publication type:
- Article
Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome.
- Published in:
- 2015
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- Publication type:
- journal article
Silver-Russell syndrome in siblings with orthodontic management.
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- 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
MISCELLANEOUS.
- Published in:
- 2017
- Publication type:
- Abstract
MISCELLANEOUS.
- Published in:
- 2017
- Publication type:
- Abstract
A rare case of Silver--Russell syndrome associated with growth hormone deiciency and urogenital abnormalities.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2012, v. 16, p. S307, doi. 10.4103/2230-8210.104070
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- Publication type:
- Article
Russell Silver syndrome: A perspective on growth and the influence of growth hormone therapy.
- Published in:
- 2012
- By:
- Publication type:
- Case Study