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Quoted phrase not found in phrase index: "Silver-russell syndrome 4"
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 …
Ticagrelor versus clopidogrel in patients with acute coronary syndromes.
Wallentin L, Becker RC, Budaj A, Cannon CP, Emanuelsson H, Held C, Horrow J, Husted S, James S, Katus H, Mahaffey KW, Scirica BM, Skene A, Steg PG, Storey RF, Harrington RA; PLATO Investigators; Freij A, Thorsén M. Wallentin L, et al. N Engl J Med. 2009 Sep 10;361(11):1045-57. doi: 10.1056/NEJMoa0904327. Epub 2009 Aug 30. N Engl J Med. 2009. PMID: 19717846 Free article. Clinical Trial.
Predefined hierarchical testing of secondary end points showed significant differences in the rates of other composite end points, as well as myocardial infarction alone (5.8% in the ticagrelor group vs. 6.9% in the clopidogrel group, P=0.005) and death from vascular causes (4 …
Predefined hierarchical testing of secondary end points showed significant differences in the rates of other composite end points, as well a …
Ezetimibe Added to Statin Therapy after Acute Coronary Syndromes.
Cannon CP, Blazing MA, Giugliano RP, McCagg A, White JA, Theroux P, Darius H, Lewis BS, Ophuis TO, Jukema JW, De Ferrari GM, Ruzyllo W, De Lucca P, Im K, Bohula EA, Reist C, Wiviott SD, Tershakovec AM, Musliner TA, Braunwald E, Califf RM; IMPROVE-IT Investigators. Cannon CP, et al. N Engl J Med. 2015 Jun 18;372(25):2387-97. doi: 10.1056/NEJMoa1410489. Epub 2015 Jun 3. N Engl J Med. 2015. PMID: 26039521 Free article. Clinical Trial.
METHODS: We conducted a double-blind, randomized trial involving 18,144 patients who had been hospitalized for an acute coronary syndrome within the preceding 10 days and had LDL cholesterol levels of 50 to 100 mg per deciliter (1.3 to 2.6 mmol per liter) if they were rece …
METHODS: We conducted a double-blind, randomized trial involving 18,144 patients who had been hospitalized for an acute coronary syndrome …
Initiation of Antiretroviral Therapy in Early Asymptomatic HIV Infection.
INSIGHT START Study Group; Lundgren JD, Babiker AG, Gordin F, Emery S, Grund B, Sharma S, Avihingsanon A, Cooper DA, Fätkenheuer G, Llibre JM, Molina JM, Munderi P, Schechter M, Wood R, Klingman KL, Collins S, Lane HC, Phillips AN, Neaton JD. INSIGHT START Study Group, et al. N Engl J Med. 2015 Aug 27;373(9):795-807. doi: 10.1056/NEJMoa1506816. Epub 2015 Jul 20. N Engl J Med. 2015. PMID: 26192873 Free PMC article. Clinical Trial.
The primary end point occurred in 42 patients in the immediate-initiation group (1.8%; 0.60 events per 100 person-years), as compared with 96 patients in the deferred-initiation group (4.1%; 1.38 events per 100 person-years), for a hazard ratio of 0.43 (95% confidence inte …
The primary end point occurred in 42 patients in the immediate-initiation group (1.8%; 0.60 events per 100 person-years), as compared with 9 …
Efficacy and Safety of NVX-CoV2373 in Adults in the United States and Mexico.
Dunkle LM, Kotloff KL, Gay CL, Áñez G, Adelglass JM, Barrat Hernández AQ, Harper WL, Duncanson DM, McArthur MA, Florescu DF, McClelland RS, Garcia-Fragoso V, Riesenberg RA, Musante DB, Fried DL, Safirstein BE, McKenzie M, Jeanfreau RJ, Kingsley JK, Henderson JA, Lane DC, Ruíz-Palacios GM, Corey L, Neuzil KM, Coombs RW, Greninger AL, Hutter J, Ake JA, Smith K, Woo W, Cho I, Glenn GM, Dubovsky F; 2019nCoV-301 Study Group. Dunkle LM, et al. N Engl J Med. 2022 Feb 10;386(6):531-543. doi: 10.1056/NEJMoa2116185. Epub 2021 Dec 15. N Engl J Med. 2022. PMID: 34910859 Free PMC article. Clinical Trial.
METHODS: We conducted a phase 3, randomized, observer-blinded, placebo-controlled trial in the United States and Mexico during the first half of 2021 to evaluate the efficacy and safety of NVX-CoV2373 in adults (18 years of age) who had not had severe acute respiratory syndrom …
METHODS: We conducted a phase 3, randomized, observer-blinded, placebo-controlled trial in the United States and Mexico during the first hal …
IGF2 Mutations.
Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T. Masunaga Y, et al. J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034. doi: 10.1210/clinem/dgz034. J Clin Endocrinol Metab. 2020. PMID: 31544945 Review.
All the mutations resided on the paternally inherited allele, and the mutation of case 5 was present in a mosaic condition. Clinical assessment revealed Silver-Russell syndrome (SRS) phenotype with Netchine-Harbison scores of 5/6 in all the apparently nonmosa …
All the mutations resided on the paternally inherited allele, and the mutation of case 5 was present in a mosaic condition. Clinical assessm …
Experiences of adolescents living with Silver-Russell syndrome.
Ballard LM, Jenkinson E, Byrne CD, Child JC, Inskip H, Lokulo-Sodipe O, Mackay DJG, Wakeling EL, Davies JH, Temple IK, Fenwick A. Ballard LM, et al. Arch Dis Child. 2021 Dec;106(12):1195-1201. doi: 10.1136/archdischild-2020-321376. Epub 2021 Mar 19. Arch Dis Child. 2021. PMID: 33741574
OBJECTIVE: The psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by growth failure and short stature in adulthood, has been explored in adults; however, there are no accounts of contemporary lived experience in adolescents. . …
OBJECTIVE: The psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by growth failure an …
Genetic and epigenetic findings in Silver-Russell syndrome.
Eggermann T, Begemann M, Spengler S, Schröder C, Kordass U, Binder G. Eggermann T, et al. Pediatr Endocrinol Rev. 2010 Dec;8(2):86-93. Pediatr Endocrinol Rev. 2010. PMID: 21150838 Review.
Silver-Russell syndrome (SRS) is a genetically and clinically heterogeneous disease which is mainly characterized by pre- and postnatal growth restriction. ...The major finding (~44%) is a hypomethylation of the imprinting control region 1 (ICR1) in 11p15.5 a …
Silver-Russell syndrome (SRS) is a genetically and clinically heterogeneous disease which is mainly characterized by pr …
Diagnosis and management of postnatal fetal growth restriction.
Giabicani E, Pham A, Brioude F, Mitanchez D, Netchine I. Giabicani E, et al. Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):523-534. doi: 10.1016/j.beem.2018.03.013. Epub 2018 Apr 5. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30086872 Review.
Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.
Jacob KJ, Robinson WP, Lefebvre L. Jacob KJ, et al. Clin Genet. 2013 Oct;84(4):326-34. doi: 10.1111/cge.12143. Epub 2013 Apr 9. Clin Genet. 2013. PMID: 23495910 Review.
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two congenital disorders with opposite outcomes on fetal growth, overgrowth and growth restriction, respectively. ...A detailed description of the phenotypic abnormalities associat …
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two congenital disorders with opposite o …
86 results