Results 151 to 160 of about 58,220 (206)

Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome. [PDF]

Mov Disord Clin Pract, 2023
Nou-Fontanet L, García-Navas D, Gómez-Martín H, Martorell L, Ortigoza-Escobar JD.   +4 more
europepmc   +1 more source

First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome. [PDF]

Sultan Qaboos Univ Med J, 2023
Hamza N, Al-Araimi M, Al Salmani K, Al Obeidani S.   +3 more
europepmc   +1 more source

Hypomethylation of the MEG8:Int2-DMR  in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome [PDF]

Clin Epigenetics
D'Angelo E, Pignata L, Cecere F, Vimercati A, Cubellis MV, Saadat A, Giaccari C, Thibaud N, Eggermann T, Fernández JR, Russo S, Netchine I, Cerrato F, Riccio A, Brioude F.   +14 more
europepmc   +2 more sources

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

Front Endocrinol (Lausanne), 2023
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

P145: Microcephaly in atypical Silver-Russell syndrome caused by defects in PLAG1

Genetics in Medicine Open, 2023
Wuyan Chen, Angela Gruber, McKenna Kyriss, Eric Bend, Rachel Sullivan, Kim Keppler-Noreuil   +5 more
doaj   +1 more source

Silver-Russell syndrome [PDF]

, 2020
openaire   +1 more source

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome. [PDF]

J Pers Med, 2021
Lin HY, Lee CL, Fran S, Tu RY, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Tsai MC, Chao MC, Tsai LP, Yang CF, Su PH, Pan YW, Lee CH, Chu TH, Chuang CK, Lin SP.   +19 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

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

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