Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.

Autor: Ziats CA; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA. Electronic address: cziats@ggc.org., Jain L; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA; School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC, USA., McLarney B; Phelan-McDermid Syndrome Foundation, Osprey, FL, USA., Vandenboom E; Phelan-McDermid Syndrome Foundation, Osprey, FL, USA., DuPont BR; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA., Rogers C; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA., Sarasua S; School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC, USA., Nevado J; INGEMM -Instituto de Genética Médica y Molecular/Hospital Universitario La Paz, IdiPAZ- Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain, and CIBERER (Centro de Investigación Básica en RED de Enfermedades Raras), Madrid, Spain., Cordisco EL; Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, Rome, Italy; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy., Phelan K; Cytogenetics Laboratory, Florida Cancer Specialists and Research Institute, Fort Myers, FL, USA., Boccuto L; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA; Clemson University School of Health Research, Clemson, SC, USA.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2020 Nov; Vol. 63 (11), pp. 104042. Date of Electronic Publication: 2020 Aug 19.

Increased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome.

Autor: Jesse, Sarah¹ (AUTHOR), Kuhlmann, Lukas² (AUTHOR), Hildebrand, Laura S.² (AUTHOR), Magelssen, Henriette³ (AUTHOR), Schmaus, Martina⁴ (AUTHOR), Timmermann, Beate⁵ (AUTHOR), Andres, Stephanie⁶ (AUTHOR), Fietkau, Rainer² (AUTHOR), Distel, Luitpold V.² (AUTHOR) luitpold.distel@uk-erlangen.de

Publikováno v: Cells (2073-4409). Mar2023, Vol. 12 Issue 5, p820. 14p.

Updated consensus guidelines on the management of Phelan–McDermid syndrome.

Autor: Srivastava, Siddharth, Sahin, Mustafa, Buxbaum, Joseph D., Berry‐Kravis, Elizabeth, Soorya, Latha Valluripalli, Thurm, Audrey, Bernstein, Jonathan A., Asante‐Otoo, Afua, Bennett, William E., Betancur, Catalina, Brickhouse, Tegwyn H., Passos Bueno, Maria Rita, Chopra, Maya, Christensen, Celanie K., Cully, Jennifer L., Dies, Kira, Friedman, Kate, Gummere, Brittany, Holder, J. Lloyd, Jimenez‐Gomez, Andres

Publikováno v: American Journal of Medical Genetics. Part A; Aug2023, Vol. 191 Issue 8, p2015-2044, 30p

Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan–McDermid syndrome: a case report and systematic review.

Autor: Yamashita, Haruki, Arakawa, Yoshiki, Terada, Yukinori, Takeuchi, Yasuhide, Mineharu, Yohei, Sumiyoshi, Sosuke, Tokunaga, Shinya, Nakajima, Kohei, Kawabata, Naoko, Tanaka, Kuniaki, Tanji, Masahiro, Umeda, Katsutsugu, Minamiguchi, Sachiko, Ogawa, Seishi, Haga, Hironori, Takita, Junko, Miyamoto, Susumu

Publikováno v: Brain Tumor Pathology; Oct2022, Vol. 39 Issue 4, p232-239, 8p

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Autor: Nevado, Julián, García-Miñaúr, Sixto, Palomares-Bralo, María, Vallespín, Elena, Guillén-Navarro, Encarna, Rosell, Jordi, Bel-Fenellós, Cristina, Ángeles Mori, María, Milá, Montserrat, del Campo, Miguel, Barrúz, Pilar, Santos-Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Antonio Tenorio, Jair, Galán, Enrique, Cigudosa, Juan C., Moresco, Angélica, Saleme, César

Publikováno v: Frontiers in Genetics; 4/12/2022, Vol. 13, p1-24, 24p