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2019 1
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2024 8

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Page 1
IGF2: Development, Genetic and Epigenetic Abnormalities.
Sélénou C, Brioude F, Giabicani E, Sobrier ML, Netchine I. Sélénou C, et al. Cells. 2022 Jun 10;11(12):1886. doi: 10.3390/cells11121886. Cells. 2022. PMID: 35741015 Free PMC article. Review.
Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review.
Singh A, Pajni K, Panigrahi I, Khetarpal P. Singh A, et al. Curr Pediatr Rev. 2023;19(2):157-168. doi: 10.2174/1573396318666220315142542. Curr Pediatr Rev. 2023. PMID: 35293298
BACKGROUND: Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic facial features and underlying genetic heterogeneity. ...
BACKGROUND: Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic …
Executive functioning in adolescents and adults with Silver-Russell syndrome.
Burgevin M, Lacroix A, Ollivier F, Bourdet K, Coutant R, Donadille B, Faivre L, Manouvrier-Hanu S, Petit F, Thauvin-Robinet C, Toutain A, Netchine I, Odent S. Burgevin M, et al. PLoS One. 2023 Jan 20;18(1):e0279745. doi: 10.1371/journal.pone.0279745. eCollection 2023. PLoS One. 2023. PMID: 36662731 Free PMC article.
Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. ...
Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. …
Intellectual functioning in Silver-Russell syndrome: First study in adults.
Burgevin M, Lacroix A, Brown G, Mikaty M, Coutinho V, Netchine I, Odent S. Burgevin M, et al. Appl Neuropsychol Adult. 2021 Jul-Aug;28(4):391-402. doi: 10.1080/23279095.2019.1644643. Epub 2019 Aug 8. Appl Neuropsychol Adult. 2021. PMID: 31390893 Free article.
Silver-Russell syndrome (SRS) is a rare genetic disorder (estimated incidence 1/30,000 to 100,000 live births). ...
Silver-Russell syndrome (SRS) is a rare genetic disorder (estimated incidence 1/30,000 to 100,000 live births). ...
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 …
Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Acosta-Fernández E, Corona-Rivera JR, Ríos-Flores IM, Torres-Anguiano E, Corona-Rivera A, Peña-Padilla C, Bobadilla-Morales L. Acosta-Fernández E, et al. Gac Med Mex. 2022;158(4):202-209. doi: 10.24875/GMM.M22000673. Gac Med Mex. 2022. PMID: 36256576 Free article. English.
INTRODUCTION: Epigenetic and genomic imprinting alterations of the 11p15.5 region cause excessive or deficient growth, which result in Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome (SRS), respectively. OBJECTIVE: To evaluate the methylation-spe …
INTRODUCTION: Epigenetic and genomic imprinting alterations of the 11p15.5 region cause excessive or deficient growth, which result in Beckw …
The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature.
Toni L, Plachy L, Dusatkova P, Amaratunga SA, Elblova L, Sumnik Z, Kolouskova S, Snajderova M, Obermannova B, Pruhova S, Lebl J. Toni L, et al. Horm Res Paediatr. 2024;97(1):40-52. doi: 10.1159/000530521. Epub 2023 Apr 5. Horm Res Paediatr. 2024. PMID: 37019085 Free article.
Targeted testing (karyotype/FISH/MLPA/specific Sanger sequencing) was performed if a specific genetic disorder was clinically suggestive. All remaining patients underwent MS-MLPA to identify Silver-Russell syndrome, and those with unknown genetic aetiology we …
Targeted testing (karyotype/FISH/MLPA/specific Sanger sequencing) was performed if a specific genetic disorder was clinically suggestive. Al …
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T. Mackay D, et al. Clin Epigenetics. 2022 Nov 7;14(1):143. doi: 10.1186/s13148-022-01358-9. Clin Epigenetics. 2022. PMID: 36345041 Free PMC article.
Among the 4721 individuals tested for the growth restriction disorder Silver-Russell syndrome, 731 had changes on chromosomes 7 and 11 classically associated with the disorder, but 115 had unexpected diagnoses that involved atypical molecular changes, imprint …
Among the 4721 individuals tested for the growth restriction disorder Silver-Russell syndrome, 731 had changes on chrom …
Russell-Silver Syndrome and Associated Feeding Challenges.
Anderson S, Brill J, Kuchinski K. Anderson S, et al. J Pediatr Health Care. 2021 Nov-Dec;35(6):630-638. doi: 10.1016/j.pedhc.2021.05.004. Epub 2021 Jun 30. J Pediatr Health Care. 2021. PMID: 34215464 No abstract available.
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome.
Burgevin M, Lacroix A, Bourdet K, Coutant R, Donadille B, Faivre L, Manouvrier-Hanu S, Petit F, Thauvin-Robinet C, Toutain A, Netchine I, Odent S. Burgevin M, et al. Eur J Med Genet. 2022 May;65(5):104482. doi: 10.1016/j.ejmg.2022.104482. Epub 2022 Mar 16. Eur J Med Genet. 2022. PMID: 35304302 Free article.
Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. ...
Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. …
63 results