Results 81 to 90 of about 5,018 (164)

(Epi)genotype-phenotype correlations of Beckwith-Wiedemann syndrome in China. [PDF]

Ital J Pediatr
Lan D, Zhang S, Li J, Wang Y, Dong C.
europepmc   +1 more source

Beckwith-Wiedemann syndrome multiomic analysis of hepatoblastoma uncovers unique tumour heterogeneity and cellular landscapes, including transition cells leading to tumour formation. [PDF]

BJC Rep
Nirgude S, Tichy ED, Zhang Y, Trang KB, Pradieu RD, Xie M, Bernt KM, MacFarland SP, Kalish JM.   +8 more
europepmc   +1 more source

Beckwith-Wiedemann syndrome and large offspring syndrome involve alterations in methylome, transcriptome, and chromatin configuration. [PDF]

NAR Mol Med
Li Y, Xiao P, Boadu F, Goldkamp AK, Nirgude S, Cheng J, Hagen DE, Kalish JM, Rivera RM.   +8 more
europepmc   +1 more source

Two Infants with Beckwith-Wiedemann Syndrome

Balkan Journal of Medical Genetics, 2010
Ratbi I, Elalaoui S, Sefiani A
doaj   +1 more source

Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome. [PDF]

Transl Pediatr
Wu Z, Yin X, Li X, Mei H, Li J, Huang Z, Cheng J, Yi P, Zhang W, Xu A.   +9 more
europepmc   +1 more source

Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome.

J Clin Endocrinol Metab
George AM, Viswanathan A, Sussman JH, Hathaway ER, Casalnova A, Nesbitt S, Boodhansingh KE, Stewart NM, McKnight HJ, Lord K, De León DD, Stanley CA, Adzick NS, Ganguly A, Kalish JM.   +14 more
europepmc   +1 more source

Characterization of placental pathology in Beckwith-Wiedemann Syndrome due to alterations in the KCNQ1OT1:TSS-DMR region. [PDF]

Placenta
Kavari SL, George AM, Linn RL, Kalish JM.   +3 more
europepmc   +1 more source

Renal MRI radiomics in Beckwith-Wiedemann syndrome: a novel imaging approach for genotype identification. [PDF]

Orphanet J Rare Dis
Bai M, Wu X, Wang J, Zhang M, Qiao Z, Zhang L, Liu J.   +6 more
europepmc   +1 more source

Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinism.

J Clin Endocrinol Metab
Juliana CA, Li C, Chai J, Boodhansingh KE, Mitteer LM, Kalish JM, Bhatti TR, Adzick NS, De Leon DD.   +8 more
europepmc   +1 more source

Beckwith–Wiedemann syndrome and recurrent bilateral renal calculi

Urology Annals, 2017
Wisit Cheungpasitporn, Stephen B Erickson   +1 more
doaj   +1 more source