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Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists …
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-R …
Silver-Russell syndrome: genetic basis and molecular genetic testing.
Eggermann T, Begemann M, Binder G, Spengler S. Eggermann T, et al. Orphanet J Rare Dis. 2010 Jun 23;5:19. doi: 10.1186/1750-1172-5-19. Orphanet J Rare Dis. 2010. PMID: 20573229 Free PMC article. Review.
Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically characterised by growth disturbances. A noteable imprinting disorder is Silver-Russell syndrome (SRS), a congenital disease characterised by intraut …
Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically characterised by growth distu …
Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome.
Marsaud C, Rossignol S, Tounian P, Netchine I, Dubern B. Marsaud C, et al. Arch Dis Child. 2015 Apr;100(4):353-8. doi: 10.1136/archdischild-2013-305864. Epub 2014 Nov 18. Arch Dis Child. 2015. PMID: 25700540
OBJECTIVES: Silver-Russell syndrome (SRS) is an imprinted disorder characterised by intrauterine growth retardation, relative macrocephaly, failure to thrive, typical facial phenotype and frequent body asymmetry. ...Gastrointestinal signs were found in 77%, i …
OBJECTIVES: Silver-Russell syndrome (SRS) is an imprinted disorder characterised by intrauterine growth retardation, re …
Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management.
Wesseler K, Kraft F, Eggermann T. Wesseler K, et al. Int J Mol Sci. 2019 Aug 28;20(17):4219. doi: 10.3390/ijms20174219. Int J Mol Sci. 2019. PMID: 31466347 Free PMC article. Review.
Silver-Russell and Beckwith-Wiedemann syndromes (SRS, BWS) are rare congenital human disorders characterized by opposite growth disturbances. ...These subgroups serve as the basis for (epi)genotype-phenotype correlations, allowing a more directed prognosis, counseli …
Silver-Russell and Beckwith-Wiedemann syndromes (SRS, BWS) are rare congenital human disorders characterized by opposite growt …
The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.
Juriaans AF, Trueba-Timmermans DJ, Kerkhof GF, Grootjen LN, Walet S, Sas TCJ, Rotteveel J, Zwaveling-Soonawala N, Verrijn Stuart AA, Hokken-Koelega ACS. Juriaans AF, et al. Horm Res Paediatr. 2023;96(5):483-494. doi: 10.1159/000530420. Epub 2023 Mar 28. Horm Res Paediatr. 2023. PMID: 36977395
IGF-1 and IGF-BP3 levels rose rapidly during GH treatment, and the IGF-1/IGF-BP3 molar ratio remained relatively low. ...In the prepubertal group, median (interquartile range [IQR]) height SDS, LBM SDS, and LBM index also increased. REE was normal at start and did n …
IGF-1 and IGF-BP3 levels rose rapidly during GH treatment, and the IGF-1/IGF-BP3 molar ratio remained relatively low. ...In th …
Metabolic Health and Long-Term Safety of Growth Hormone Treatment in Silver-Russell Syndrome.
Smeets CC, Renes JS, van der Steen M, Hokken-Koelega AC. Smeets CC, et al. J Clin Endocrinol Metab. 2017 Mar 1;102(3):983-991. doi: 10.1210/jc.2016-3388. J Clin Endocrinol Metab. 2017. PMID: 28001454
CONTEXT: Children with Silver-Russell syndrome (SRS) are born small for gestational age (SGA) and remain short. ...At 2 years after GH-stop (mean age 18 years), all parameters were similar and within normal ranges in SRS and non-SRS. None of the SRS patients …
CONTEXT: Children with Silver-Russell syndrome (SRS) are born small for gestational age (SGA) and remain short. ...At 2 …
FDA approval summary: vemurafenib for treatment of unresectable or metastatic melanoma with the BRAFV600E mutation.
Kim G, McKee AE, Ning YM, Hazarika M, Theoret M, Johnson JR, Xu QC, Tang S, Sridhara R, Jiang X, He K, Roscoe D, McGuinn WD, Helms WS, Russell AM, Miksinski SP, Zirkelbach JF, Earp J, Liu Q, Ibrahim A, Justice R, Pazdur R. Kim G, et al. Clin Cancer Res. 2014 Oct 1;20(19):4994-5000. doi: 10.1158/1078-0432.CCR-14-0776. Epub 2014 Aug 5. Clin Cancer Res. 2014. PMID: 25096067 Review.
An international, multicenter, randomized, open-label trial in 675 previously untreated patients with BRAF(V600E) mutation-positive unresectable or metastatic melanoma allocated 337 patients to receive vemurafenib, 960 mg orally twice daily, and 338 patients to receive dacarbazin …
An international, multicenter, randomized, open-label trial in 675 previously untreated patients with BRAF(V600E) mutation-positive unresect …
The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome.
Świąder-Leśniak A, Jurkiewicz D, Kołodziejczyk H, Kozłowska A, Korpysz A, Szalecki M, Chrzanowska K. Świąder-Leśniak A, et al. Endokrynol Pol. 2023;74(3):285-293. doi: 10.5603/EP.a2023.0042. Epub 2023 Jun 19. Endokrynol Pol. 2023. PMID: 37335065 Free article.
INTRODUCTION: Silver-Russell syndrome (SRS) is characterized by clinical and genetic heterogeneity. ...RESULTS: Height, weight, and weight for height (SDS) at baseline of rhGH therapy were lower in SRS patients than in the SGA control group: -3.3 1 …
INTRODUCTION: Silver-Russell syndrome (SRS) is characterized by clinical and genetic heterogeneity. ...RESULTS: Height, …
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.
Tannorella P, Minervino D, Guzzetti S, Vimercati A, Calzari L, Patti G, Maghnie M, Allegri AEM, Milani D, Scuvera G, Mariani M, Modena P, Selicorni A, Larizza L, Russo S. Tannorella P, et al. Genes (Basel). 2021 Apr 17;12(4):588. doi: 10.3390/genes12040588. Genes (Basel). 2021. PMID: 33920573 Free PMC article.
Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (Netc …
Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based o …
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.
Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG. Rogan PK, et al. Am J Med Genet. 1996 Mar 1;62(1):10-5. doi: 10.1002/(SICI)1096-8628(19960301)62:1<10::AID-AJMG3>3.0.CO;2-#. Am J Med Genet. 1996. PMID: 8779316 Free PMC article.
To assess whether the apparent phenotypic overlap of these conditions reflects a common genetic cause, the extent of deletions in chromosome 15q was determined in 5 patients with r(15), 1 patient with del 15q26.1-qter, and 5 patients with Russell-Silver …
To assess whether the apparent phenotypic overlap of these conditions reflects a common genetic cause, the extent of deletions in chromosome …
22 results