Results 141 to 150 of about 14,149 (242)

Beckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene

The Application of Clinical Genetics, 2014
Donatella Milani,1 Lidia Pezzani,1 Silvia Tabano,2 Monica Miozzo2,31Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore ...
Milani D, Pezzani L, Tabano S, Miozzo M
doaj  

Human Endogenous Retroviruses and Epigenetic Regulators Are Dysregulated in Beckwith-Wiedemann Syndrome. [PDF]

Curr Issues Mol Biol
Galliano I, Tovo PA, Calvi C, Pau A, Clemente A, Montanari P, Gambarino S, Mussa A, Bergallo M.   +8 more
europepmc   +1 more source

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.

Proceedings of the National Academy of Sciences of the United States of America, 1999
Nancy J. Smilinich, C. Day, Galina V. Fitzpatrick, G. Caldwell, Amy C. Lossie, Paul R. Cooper, A. Smallwood, Johanna A. Joyce, Paul N. Schofield, Wolf Reik, Robert D. Nicholls, Rosanna Weksberg, Daniel J. Driscoll, Eamonn R. Maher, T. B. Shows, Michael J. Higgins   +15 more
semanticscholar   +1 more source

Evolutionary origins of autism and psychosis? [PDF]

, 2006
Badcock, Christopher
core  

In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene.

American Journal of Human Genetics, 2003
C. Gicquel, V. Gaston, J. Mandelbaum, J. Siffroi, A. Flahault, Y. Le Bouc   +5 more
semanticscholar   +1 more source

(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 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

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

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

Multiple Fractures in an Infant With Hepatoblastoma and Beckwith-Wiedemann Syndrome. [PDF]

JCEM Case Rep, 2023
Eimicke T, Swartz J.
europepmc   +1 more source