Results 121 to 130 of about 9,569 (209)

Genomic imprinting defects in the growth disorder Beckwith-Wiedemann syndrome

, 2009
The imprinting control region (IC1) of the human IGF2 and H19 genes is represented by a chromatin insulator located between the two genes that prevents the activation of IGF2 and allows the activation of H19 on the maternal chromosome. Deletions removing
Citro, Valentina
core  

A dual-reporter mouse for therapeutic discovery in Angelman syndrome. [PDF]

JCI Insight
Vihma H, James LM, Nourie HC, Smith AL, Liang S, Friar CA, Vulli T, Xing L, Cowley DO, Burette AC, Philpot BD.   +10 more
europepmc   +1 more source

UBE3A isoform-selective and non-selective contributions to Angelman syndrome phenotypes. [PDF]

Mol Psychiatry
Krzeski JC, Mientjes EJ, Judson MC, Dong G, Hipp RI, Lien KH, Gu B, Philpot BD, Elgersma Y.   +8 more
europepmc   +1 more source

Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study. [PDF]

J Neurodev Disord
Leffler M, Woods RJ, Sapp A, Zigler CK, Komorowski R, Crean R, Bird LM, Merton CF, Booman AJ, O'Sullivan JD, Sheehy KA, Duis J, Tan WH, Sadhwani A.   +13 more
europepmc   +1 more source

Angelman syndrome can result from uniparental paternal isodisomy

, 1990
Angelman syndrome can result from uniparental paternal ...
Alec J. Jeffreys (7579385), M.E. Pembrey (7579745), M. Nichols (7579730), T. Webb (7579739), S. Robb (7579736), S. Malcolm (7579727), J. Clayton-Smith (7579733), John A.L. Armour (7579742)   +7 more
core  

Diffuse Large B-Cell Lymphoma Presenting With Superior Vena Cava Syndrome and Recurrent Pleural Effusions in a Patient With Angelman Syndrome: A Case Report. [PDF]

Cureus
Khalid A, Matejuk S, Chaeli Van Der Zijp-Tan A, Van Horn N, Jiang K, Fouty B.   +5 more
europepmc   +1 more source

Clinical and Rehabilitation Aspects of Angelman Syndrome

, 2015
Angelmanov sindrom neurorazvojni je poremećaj kojeg karakteriziraju progresivna mikrocefalija, epilepsija, razvojna odstupanja, problemi u usvajanju jezika i govora te neobična ponašanja.
Maja Rebrović Čančarević, Rebrović Čančarević, Maja   +1 more
core  

Clinical and Genetic Profiles of 11 Chinese Patients With Angelman Syndrome. [PDF]

Genet Res (Camb)
Qu S, Sun P, Dai L, Song C, Wang Y.
europepmc   +1 more source

Angelman syndrome [PDF]

, 2020
openaire   +2 more sources

Development of the Angelman syndrome video assessment: quantifying meaningful change. [PDF]

J Neurodev Disord
Sheehy KA, Leffler MG, Woods RJ, Komorowski R, Crean R, Zigler CK, Duis J, Boorom O, Brady N, DeValk L, Harris N, Sapp A, Woeber C, Sadhwani A, Tan WH, ASVA Delphi Panelists.   +15 more
europepmc   +1 more source