Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

Sabria-Back, J., Monteagudo-Sánchez, A., Sánchez-Delgado, M., Ferguson-Smith, A. C., Gómez, O., Pertierra Cartada, A., Tenorio, J., Nevado, J., Lapunzina, P., Pereda Aguirre, A., Giménez Sevilla, C., Toro Toro, E., Perez De Nanclares, G. & Monk, D., 12 Feb 2021, In : Journal of Medical Genetics.

Research output: Contribution to journal › Article

Prenatal diagnosis of Kagami-Ogata Syndrome

Coll, C. M., Bach, J. S., Renau, M. I., Alarcón Allen, A., Monk, D., Gómez del Rincón, O., Recasens, M. M. & Martínez Crespo, J. M., Jun 2021, In : Journal of Clinical Ultrasound. 49, 5, p. 498-501 4 p.

Research output: Contribution to journal › Article

Comprehensive analysis of PM20D1 QTL in Alzheimer’s disease

Sanchez-Mut, J. V., Glauser, L., Monk, D. & Gräff, J., 3 Feb 2020, In : Clinical Epigenetics. 12, 1, 11 p., 20.

Research output: Contribution to journal › Article

Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients

Mantovani, G., Bastepe, M., Monk, D., de Sanctis, L., Thiele, S., Ahmed, S. F., Bufo, R., Choplin, T., De Filippo, G., Devernois, G., Eggermann, T., Ell, F. M., Garcia Ramirez, A., Germain-Lee, E. L., Groussin, L., Hamdy, N. A. T., Hanna, P., Hiort, O., Jüppner, H., Kamenický, P. & 23 others, Knight, N., Le Norcy, E., Lecumberri, B., Levine, M. A., Mäkitie, O., Martin, R., Martos-Moreno, G. Á., Minagawa, M., Murray, P., Pereda, A., Pignolo, R., Rejnmark, L., Rodado, R., Rothenbuhler, A., Saraff, V., Shoemaker, A. H., Shore, E. M., Silve, C., Turan, S., Woods, P., Zillikens, M. C., Perez de Nanclares, G. & Linglart, A., 1 Sep 2020, In : Hormone Research in Paediatrics. 93, 3, p. 182-196 15 p.

Research output: Contribution to journal › Article

The hypomethylation of imprinted genes in IVF/ICSI placenta samples is associated with concomitant changes in histone modifications

Choux, C., Petazzi, P., Sanchez-Delago, M., Hernandez Mora, J. R., Monteagudo, A., Sagot, P., Monk, D. & Fauque, P., Dec 2020, In : Epigenetics. 15, 12, p. 1386-1395 10 p.

Research output: Contribution to journal › Article