Results 91 to 100 of about 4,687 (160)

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum. [PDF]

Front Genet, 2023
Vimercati A, Tannorella P, Orlandini E, Calzari L, Moro M, Guzzetti S, Selicorni A, Crippa M, Larizza L, Bonati MT, Russo S.   +10 more
europepmc   +1 more source

Silver-Russell syndrome [PDF]

, 2020
openaire   +1 more source

Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome. [PDF]

Front Pediatr, 2022
Loid P, Lipsanen-Nyman M, Ala-Mello S, Hannula-Jouppi K, Kere J, Mäkitie O, Muurinen M.   +6 more
europepmc   +1 more source

A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype. [PDF]

J Med Genet, 2023
Gaudet MV, Allain EP, Gallant LM, Arts HH, Ben Amor M.   +4 more
europepmc   +1 more source

Clinical and genetic diagnosis and management of Silver-Russell syndrome: Report of four cases. [PDF]

World J Clin Pediatr
Toulia I, Savvidou P, Ververi A, Grammatikopoulou MG, Kosta K, Tziaferi V, Antachopoulos C, Goulis DG, Sotiriadis A, Tsiroukidou K.   +9 more
europepmc   +1 more source

Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age. [PDF]

Front Endocrinol (Lausanne), 2022
Patti G, Malerba F, Calevo MG, Schiavone M, Scaglione M, Casalini E, Russo S, Fava D, Bassi M, Napoli F, Allegri AEM, D'Annunzio G, Gastaldi R, Maghnie M, Di Iorgi N.   +14 more
europepmc   +1 more source

Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome. [PDF]

Ann Lab Med, 2021
Kim SY, Shin CH, Lee YA, Shin CH, Yang SW, Cho TJ, Ko JM.   +6 more
europepmc   +1 more source

Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome. [PDF]

Mol Syndromol, 2021
Lengyel A, Pinti É, Eggermann T, Fekete G, Haltrich I.   +4 more
europepmc   +1 more source

Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing. [PDF]

Mol Syndromol, 2022
Zhang YL, Jing XY, Wan JH, Pan M, Li DZ.
europepmc   +1 more source

Dysregulated H19/Igf2 expression disrupts cardiac-placental axis during development of Silver-Russell syndrome-like mouse models. [PDF]

Elife, 2022
Chang S, Fulmer D, Hur SK, Thorvaldsen JL, Li L, Lan Y, Rhon-Calderon EA, Leu NA, Chen X, Epstein JA, Bartolomei MS.   +10 more
europepmc   +1 more source