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Page 1
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. Brioude F, et al. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Nat Rev Endocrinol. 2018. PMID: 29377879 Free PMC article. Review.
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryo
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that
Pediatric adrenocortical carcinoma.
Ilanchezhian M, Varghese DG, Glod JW, Reilly KM, Widemann BC, Pommier Y, Kaplan RN, Del Rivero J. Ilanchezhian M, et al. Front Endocrinol (Lausanne). 2022 Oct 31;13:961650. doi: 10.3389/fendo.2022.961650. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36387865 Free PMC article. Review.
It is rare in the pediatric population, with an incidence of 0.2-0.3 patients per million in patients under 20 years old. It is primarily associated with Li-Fraumeni and Beckwith-Wiedemann tumor predisposition syndromes in children. The incidence of pediatric ACC is …
It is rare in the pediatric population, with an incidence of 0.2-0.3 patients per million in patients under 20 years old. It is primarily as …
Omphalocele-What should we tell the prospective parents?
Adams AD, Stover S, Rac MW. Adams AD, et al. Prenat Diagn. 2021 Mar;41(4):486-496. doi: 10.1002/pd.5886. Epub 2021 Feb 4. Prenat Diagn. 2021. PMID: 33540475 Review.
Approximately, 50% of cases are associated with genetic and multiple malformation syndromes including trisomy 13/18, pentalogy of Cantrell and Beckwith-Wiedemann syndrome. Therefore, a thorough evaluation is recommended, including detailed anatomic survey, fe …
Approximately, 50% of cases are associated with genetic and multiple malformation syndromes including trisomy 13/18, pentalogy of Cantrell a …
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.
The identification of human disorders due to impaired IGF2 gene expression has also helped to elucidate the major role of IGF-II in growth and in tumor proliferation. The Silver-Russell and Beckwith-Wiedemann syndromes are the most representative imprinted disorders …
The identification of human disorders due to impaired IGF2 gene expression has also helped to elucidate the major role of IGF-II in growth a …
Tall stature in children and adolescents.
Urakami T. Urakami T. Minerva Pediatr. 2020 Dec;72(6):472-483. doi: 10.23736/S0026-4946.20.05971-X. Epub 2020 Aug 4. Minerva Pediatr. 2020. PMID: 32748612 Review.
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious puberty and lipodystrophy, chromosome disorders, such as Trisomy X (47, XXX female), Klinefelter Syndrome (47, XXY), XYY syndrome
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious pu …
Beckwith-Wiedemann syndrome.
Weksberg R, Shuman C, Beckwith JB. Weksberg R, et al. Eur J Hum Genet. 2010 Jan;18(1):8-14. doi: 10.1038/ejhg.2009.106. Eur J Hum Genet. 2010. PMID: 19550435 Free PMC article. Review.
Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. ...
Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigene
Beckwith-Wiedemann syndrome: clinical and etiopathogenic aspects of a model genomic imprinting entity.
Cammarata-Scalisi F, Avendaño A, Stock F, Callea M, Sparago A, Riccio A. Cammarata-Scalisi F, et al. Arch Argent Pediatr. 2018 Oct 1;116(5):368-373. doi: 10.5546/aap.2018.eng.368. Arch Argent Pediatr. 2018. PMID: 30204990 Free article. Review. English, Spanish.
The Beckwith-Wiedemann syndrome is the most common genetic entity in overgrowth, with an approximate incidence of 1 in 10 00013 700births. ...The objective of this article is to describe the current status of the Beckwith-Wiedemann syndrome
The Beckwith-Wiedemann syndrome is the most common genetic entity in overgrowth, with an approximate incidence of 1 in …
Beckwith-Wiedemann syndrome.
Choufani S, Shuman C, Weksberg R. Choufani S, et al. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):343-54. doi: 10.1002/ajmg.c.30267. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803657 Review.
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. ...
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and cong
Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
Fontana L, Tabano S, Maitz S, Colapietro P, Garzia E, Gerli AG, Sirchia SM, Miozzo M. Fontana L, et al. Int J Mol Sci. 2021 Mar 26;22(7):3445. doi: 10.3390/ijms22073445. Int J Mol Sci. 2021. PMID: 33810554 Free PMC article. Review.
Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous overgrowth disease. ...
Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous overgrowth disease. ...
Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse.
Zammit M, Caruana E, Cassar D, Calleja-Agius J. Zammit M, et al. Neonatal Netw. 2017 May 1;36(3):129-133. doi: 10.1891/0730-0832.36.3.129. Neonatal Netw. 2017. PMID: 28494824 Review.
Beckwith-Wiedemann syndrome (BWS) is the most common pediatric overgrowth syndrome. ...
Beckwith-Wiedemann syndrome (BWS) is the most common pediatric overgrowth syndrome. ...
351 results