Results 111 to 120 of about 10,203 (190)

Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome. [PDF]

Eur J Pediatr, 2023
Ciancia S, Goedegebuure WJ, Grootjen LN, Hokken-Koelega ACS, Kerkhof GF, van der Kaay DCM.   +5 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

Gastrointestinal symptoms and quality of life in adults with Silver-Russell syndrome: a cross-sectional study. [PDF]

Arch Dis Child
Muz N, Törnblom H, Saalman R, Dahlgren J.   +3 more
europepmc   +1 more source

An Unusual Association: Silver-Russell Syndrome and Ectopic Thyroid. [PDF]

Cureus, 2022
Lahmamssi FZ, Saadaoui L, Aynaou H, Salhi H, El Ouahabi H.   +4 more
europepmc   +1 more source

A Diagnostic Case Study of a Young Man with Russell-Silver Syndrome and Associated Comorbidities

, 2019
This is a case study of a young man diagnosed with Russell-Silver Syndrome or RSS for short (Online Mendelian Inheritance in Man® Classification Number #180860) and associated comorbidities.
Lim, Benjamin Kee Kee Ern, Lim, Boon Hock, Lee, Ban Meng, XIE, Guo Hui   +3 more
core  

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

Colorectal cancer in a man with silver-Russell syndrome: a case report. [PDF]

Oxf Med Case Reports
Ibraik F, Hammouri I, Arafat H, Hammouri AG, Qahoush H.   +4 more
europepmc   +1 more source

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

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