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Quoted phrase not found in phrase index: "Beckwith-Wiedemann syndrome due to CDKN1C mutation"
Page 1
Imprinted disorders and growth.
Giabicani É, Brioude F, Le Bouc Y, Netchine I. Giabicani É, et al. Ann Endocrinol (Paris). 2017 Jun;78(2):112-113. doi: 10.1016/j.ando.2017.04.010. Epub 2017 May 4. Ann Endocrinol (Paris). 2017. PMID: 28478949
Imprinted genes have a critical role in mammalian fetal growth. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders with opposite fetal growth disturbance. SRS is leading to severe fetal and postnatal growth …
Imprinted genes have a critical role in mammalian fetal growth. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell …
Beckwith-Wiedemann syndrome: multiple molecular mechanisms.
Enklaar T, Zabel BU, Prawitt D. Enklaar T, et al. Expert Rev Mol Med. 2006 Jul 17;8(17):1-19. doi: 10.1017/S1462399406000020. Expert Rev Mol Med. 2006. PMID: 16842655 Review.
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth condition with an increased risk of developing embryonic tumours, such as Wilms' tumour. ...A variety of molecular aberrations have been associated with BWS. The only mutations within a gene …
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth condition with an increased risk of developing embryonic t …
Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
Bilgin B, Kabaçam S, Taşkıran E, Şimşek-Kiper PÖ, Alanay Y, Boduroğlu K, Utine GE. Bilgin B, et al. Turk J Pediatr. 2018;60(5):506-513. doi: 10.24953/turkjped.2018.05.006. Turk J Pediatr. 2018. PMID: 30968633 Free article.
Bilgin B, Kabacam S, Taskiran E, Simsek-Kiper PO, Alanay Y, Boduroglu K, Utine GE. Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome. Turk J Pediatr 2018; 60: 506-513. Beckwith-Wiedemann Syndrome (BWS) is …
Bilgin B, Kabacam S, Taskiran E, Simsek-Kiper PO, Alanay Y, Boduroglu K, Utine GE. Epigenotype and phenotype correlations in patients with …
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
Kim HY, Shin CH, Lee YA, Shin CH, Kim GH, Ko JM. Kim HY, et al. Ann Lab Med. 2022 Nov 1;42(6):668-677. doi: 10.3343/alm.2022.42.6.668. Ann Lab Med. 2022. PMID: 35765875 Free PMC article.
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by genetic or epigenetic alterations at two imprinting centers (ICs) in the 11p15.5 region. ...Methylation-specific multiplex ligation-dependent probe amplification (MS-M …
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by genetic or epigenetic alter …
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population.
Luk HM. Luk HM. J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):89-95. doi: 10.1515/jpem-2016-0094. J Pediatr Endocrinol Metab. 2017. PMID: 27977403
BACKGROUND: The objective of this study was to examine the clinical and molecular features, genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting a positive molecular test in Chinese Beckwith-Wiedemann syndrome (BWS) …
BACKGROUND: The objective of this study was to examine the clinical and molecular features, genotype-phenotype correlation and the efficacy …
Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
Soejima H, Higashimoto K. Soejima H, et al. J Hum Genet. 2013 Jul;58(7):402-9. doi: 10.1038/jhg.2013.51. Epub 2013 May 30. J Hum Genet. 2013. PMID: 23719190 Review.
As imprinted genes have an important role in growth and development, aberrant expression of imprinted genes due to genetic or epigenetic abnormalities is involved in the pathogenesis of human disorders, or imprinting disorders. Beckwith-Wiedemann syndrome (BW …
As imprinted genes have an important role in growth and development, aberrant expression of imprinted genes due to genetic or epigenetic abn …
CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer.
Lew JM, Fei YL, Aleck K, Blencowe BJ, Weksberg R, Sadowski PD. Lew JM, et al. Am J Med Genet A. 2004 Jun 15;127A(3):268-76. doi: 10.1002/ajmg.a.30020. Am J Med Genet A. 2004. PMID: 15150778
Wiedemann-Beckwith syndrome (WBS) is a human overgrowth disorder that is accompanied by an increased risk of embryonal tumors and is associated with dsyregulation of the imprinting of genes in chromosome 11p15.5. Maternally inherited mutations in the i …
Wiedemann-Beckwith syndrome (WBS) is a human overgrowth disorder that is accompanied by an increased risk of embryonal …
Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.
Brioude F, Nicolas C, Marey I, Gaillard S, Bernier M, Das Neves C, Le Bouc Y, Touraine P, Netchine I. Brioude F, et al. Horm Res Paediatr. 2016;86(3):206-211. doi: 10.1159/000446435. Epub 2016 Jun 3. Horm Res Paediatr. 2016. PMID: 27255538
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with an increased risk of cancer. ...However, BWS should be considered in cases of pituitary adenoma with minor and/or major signs of BWS. The association between ICR2 LOM and USP8 …
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with an increased risk of cancer. ...How …
Genomic imprinting and Beckwith-Wiedemann syndrome.
Hatada I, Mukai T. Hatada I, et al. Histol Histopathol. 2000 Jan;15(1):309-12. doi: 10.14670/HH-15.309. Histol Histopathol. 2000. PMID: 10668219 Review.
Genomic imprinting is the parental-allele-specific expression of genes. Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth syndrome with increased risk of childhood tumors, is one of the well-known diseases caused by imprinted genes. ...
Genomic imprinting is the parental-allele-specific expression of genes. Beckwith-Wiedemann syndrome (BWS), a congenital …
The potential impact of the fetal genotype on maternal blood pressure during pregnancy.
Petry CJ, Beardsall K, Dunger DB. Petry CJ, et al. J Hypertens. 2014 Aug;32(8):1553-61; discussion 1561. doi: 10.1097/HJH.0000000000000212. J Hypertens. 2014. PMID: 24842698 Review.
Other genetic variants that may affect maternal blood pressure in pregnancy arise from the fetal genome, for example wild-type pregnant mice carrying offspring with Cdkn1c or Stox1 disrupted develop hypertension and proteinuria. In humans, there is a higher risk for preecl …
Other genetic variants that may affect maternal blood pressure in pregnancy arise from the fetal genome, for example wild-type pregnant mice …
31 results