Results 101 to 110 of about 4,687 (160)

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes. [PDF]

Mol Cytogenet, 2022
Baba N, Lengyel A, Pinti E, Yapici E, Schreyer I, Liehr T, Fekete G, Eggermann T.   +7 more
europepmc   +1 more source

Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis. [PDF]

Front Genet
Hong S, Wei H, Zhuang X, Huang W, Zhang Y.   +4 more
europepmc   +1 more source

The next generation of Silver-Russell syndrome [PDF]

The Journal of Pediatrics, 2017
openaire   +2 more sources

Percutaneous endoscopic gastrostomy helped to normalise feeding problems and gastrointestinal symptoms in Silver-Russell syndrome. [PDF]

Acta Paediatr
Muz N, Petersson M, Saalman R, Dahlgren J.   +3 more
europepmc   +1 more source

Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation. [PDF]

Front Pediatr
Darneau D, Giabicani E, Netchine I, Pham A.   +3 more
europepmc   +1 more source

Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review. [PDF]

Front Genet
Wu K, Zhu Y, Zhu Q.
europepmc   +1 more source

Case report: Duplication of the GCK gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7. [PDF]

Front Endocrinol (Lausanne)
Shoji T, Yamauchi I, Kawasaki H, Iwanaga K, Hakata T, Tanaka D, Fujikura J, Masui T, Suzuki H, Yamada M, Kosaki K, Kasai Y, Hatano E, Inaba A, Wada T, Kosugi S, Ueda Y, Fujii T, Taura D, Inagaki N.   +19 more
europepmc   +1 more source

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.

J Clin Endocrinol Metab
Vimercati A, Tannorella P, Guzzetti S, Calzari L, Gentilini D, Manfredini E, Gori G, Gaudino R, Antona V, Piccione M, Daolio C, Auricchio R, Sirchia F, Minelli A, Rossi E, Bellini M, Biasucci G, Raucci AR, Pozzobon G, Patti G, Napoli F, Larizza L, Maghnie M, Russo S.   +23 more
europepmc   +1 more source

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome. [PDF]

Int J Med Sci
Lin HY, Lee CL, Tu YR, 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.   +18 more
europepmc   +1 more source

Approach to the Patient With Suspected Silver-Russell Syndrome.

J Clin Endocrinol Metab
Kurup U, Lim DBN, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL.   +6 more
europepmc   +1 more source