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2008 36
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910 results

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Page 1
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. ...
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-R …
Silver-Russell Syndrome.
Saal HM, Harbison MD, Netchine I. Saal HM, et al. 2002 Nov 2 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Nov 2 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301499 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Silver-Russell Syndrome (SRS) is typically characterized by gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference 1.5 standard d …
CLINICAL CHARACTERISTICS: Silver-Russell Syndrome (SRS) is typically characterized by gestational growth restriction re …
Silver-Russell Syndrome: A Review.
Spiteri BS, Stafrace Y, Calleja-Agius J. Spiteri BS, et al. Neonatal Netw. 2017 Jul 1;36(4):206-212. doi: 10.1891/0730-0832.36.4.206. Neonatal Netw. 2017. PMID: 28764823 Review.
Silver-Russell syndrome (SRS) is a rare congenital imprinting disorder. The genetic findings in SRS patients are heterogeneous and often sporadic. ...
Silver-Russell syndrome (SRS) is a rare congenital imprinting disorder. The genetic findings in SRS patients are hetero …
Silver-Russell syndrome.
Wakeling EL. Wakeling EL. Arch Dis Child. 2011 Dec;96(12):1156-61. doi: 10.1136/adc.2010.190165. Epub 2011 Feb 24. Arch Dis Child. 2011. PMID: 21349887 Review.
Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face, asymmetry and feeding difficulties. ...
Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macr …
Russell-Silver syndrome.
Eggermann T. Eggermann T. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803658 Review.
In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprinting disorder. This congenital disease is characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical t …
In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprin …
Silver-Russell syndrome.
Binder G, Begemann M, Eggermann T, Kannenberg K. Binder G, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):153-60. doi: 10.1016/j.beem.2010.06.005. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396582
The Silver-Russell syndrome (SRS) is a sporadic clinically and genetically heterogeneous disorder. ...
The Silver-Russell syndrome (SRS) is a sporadic clinically and genetically heterogeneous disorder. ...
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.
Õunap K. Õunap K. Mol Syndromol. 2016 Jul;7(3):110-21. doi: 10.1159/000447413. Epub 2016 Jul 6. Mol Syndromol. 2016. PMID: 27587987 Free PMC article. Review.
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically opposite growth-affecting disorders belonging to the group of congenital imprinting disorders. ...Six diagnostic scoring systems for SRS and 4 for BWS have been previo …
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically opposite growth-affecting d …
Approach to the Patient With Suspected Silver-Russell Syndrome.
Kurup U, Lim DBN, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL. Kurup U, et al. J Clin Endocrinol Metab. 2024 Sep 16;109(10):e1889-e1901. doi: 10.1210/clinem/dgae423. J Clin Endocrinol Metab. 2024. PMID: 38888172 Free PMC article. Review.
Silver-Russell syndrome (SRS) is a clinical diagnosis requiring the fulfillment of 4/6 Netchine-Harbison Clinical Scoring System (NH-CSS) criteria. ...
Silver-Russell syndrome (SRS) is a clinical diagnosis requiring the fulfillment of 4/6 Netchine-Harbison Clinical Scori …
Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background.
Marczak-Hałupka A, Kalina MA, Tańska A, Chrzanowska KH. Marczak-Hałupka A, et al. Pediatr Endocrinol Diabetes Metab. 2015;20(3):101-6. doi: 10.18544/PEDM-20.03.0009. Pediatr Endocrinol Diabetes Metab. 2015. PMID: 26615046 Free article. Review.
Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogeneous entity, caused by (epi)genetic alternations. ...
Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogeneous entity, caused by (epi)genetic altern …
Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Chang S, Bartolomei MS. Chang S, et al. Dis Model Mech. 2020 May 26;13(5):dmm044123. doi: 10.1242/dmm.044123. Dis Model Mech. 2020. PMID: 32424032 Free PMC article. Review.
Dysregulation of genomic imprinting can cause developmental disorders such as Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS). In this Review, we discuss (1) how various (epi)genetic lesions lead to the dysregulation of clinically r …
Dysregulation of genomic imprinting can cause developmental disorders such as Beckwith-Wiedemann syndrome (BWS) and Silver- …
910 results