Results 161 to 170 of about 14,149 (242)

Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score. [PDF]

Mol Syndromol
Çetinkaya D, Altan M, Kılıç E.
europepmc   +1 more source

Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management

Genetics in Medicine, 2019
Sarah E. Sheppard, Emilie Lalonde, Emilie Lalonde, N. Adzick, A. Beck, T. Bhatti, D. D. León, D. D. León, K. Duffy, A. Ganguly, Evan R Hathaway, J. Ji, R. Linn, K. Lord, K. Lord, L. Randolph, Brian J. Sajorda, L. States, L. Conlin, J. Kalish, J. Kalish   +20 more
semanticscholar   +1 more source

Partial Glossectomy in a 2-month-old Infant with Beckwith-Wiedemann Syndrome - A Case Report. [PDF]

Ann Maxillofac Surg
Mohsin SF, Alrodhan AM, Aruveeti YA, Kavarodi AM, Rehman A, Almutairi AN.   +5 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

Maternal Cell-Free DNA Analysis in a Fetus Affected by Beckwith-Wiedemann Syndrome: Potential for Prenatal Diagnosis. [PDF]

Cureus
Yamamoto R, Umazume T, Asano H, Asai S, Watari H.   +4 more
europepmc   +1 more source

Sociobiology [PDF]

, 2005
Badcock, Christopher
core   +1 more source

Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome. [PDF]

Cureus
Hasegawa Y, Miura S, Kagami M, Dateki S, Miura K.   +4 more
europepmc   +1 more source

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting.

Proceedings of the National Academy of Sciences of the United States of America, 1999
Maxwell P. Lee, M. Debaun, K. Mitsuya, H. Galonek, S. Brandenburg, M. Oshimura, A. Feinberg   +6 more
semanticscholar   +1 more source

Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith-Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region. [PDF]

Clin Epigenetics
Urakawa T, Kanamaru Y, Amano N, Uchida A, Fukami M, Kagami M.   +5 more
europepmc   +1 more source

Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

European Journal of Human Genetics, 2017
J. Brzezinski, C. Shuman, S. Choufani, P. Ray, D. Stavropoulos, R. Basran, L. Steele, Nicole Parkinson, R. Grant, P. Thorner, Armando J. Lorenzo, R. Weksberg   +11 more
semanticscholar   +1 more source