المؤلفون: Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Abdominal wall defects, Beckwith-Wiedemann syndrome, CDKN1C, Genomic imprinting, KCNQ1OT1:TSS-DMR, Omphalocele, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0470-z; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/d6777ba42dcd4433ae219687367c081d

المؤلفون: Laura Pignata, Francesco Cecere, Fabio Acquaviva, Emilia D’Angelo, Daniela Cioffi, Valeria Pellino, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Angela Sparago, Daniele De Brasi, Flavia Cerrato, Andrea Riccio

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), Beckwith-Wiedemann syndrome, pseudohypoparathyroidism type 1B, multilocus imprinting disturbance, uniparental disomy, imprinting disorders, genomic imprinting, KCNQ1OT1:TSS-DMR, GNAS

Relation: https://figshare.com/articles/dataset/Table2_Co-occurrence_of_Beckwith-Wiedemann_syndrome_and_pseudohypoparathyroidism_type_1B_coincidence_or_common_molecular_mechanism_XLSX/23917278

الاتاحة: https://doi.org/10.3389/fcell.2023.1237629.s002
https://figshare.com/articles/dataset/Table2_Co-occurrence_of_Beckwith-Wiedemann_syndrome_and_pseudohypoparathyroidism_type_1B_coincidence_or_common_molecular_mechanism_XLSX/23917278

المؤلفون: Tenorio, J., Romanelli, V., Martin-Trujillo, A., Fernández, G.M., Segovia, M., Perandones, C., Pérez Jurado, L.A., Esteller, M., Fraga, M., Arias, P., Gordo, G., Dapía, I., Mena, R., Palomares, M., Pérez de Nanclares, G., Nevado, J., García-Miñaur, S., Santos-Simarro, F., Martinez-Glez, V., Vallespín, E.

المساهمون: Hennekam, R.C.M., Biesecker, L.G.

المصدر: http://dx.doi.org/10.1002/ajmg.a.37852.

مصطلحات موضوعية: Genome‐wide hypomethylation, assisted reproductive techniques, Beckwith–Wiedemann syndrome, imprinting disorders, multi‐locus imprinting disturbance, KCNQ1OT1:TSS‐DMR, H19/IGF2:IG‐DMR

Relation: FIS11/2491; FIS15/1481; American Journal of Medical Genetics Part A, 2016; 170(10):2740-2749; http://hdl.handle.net/2440/120050

الاتاحة: http://hdl.handle.net/2440/120050
https://doi.org/10.1002/ajmg.a.37852