Bibliotecas PUC-SP - Busca Integrada

Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS.

Por Sophie Ayoub, Eva De Clercq, Cheryl Cytrynbaum, Luzius A Steiner, Bernice S Elger
Publicado no PLoS ONE (2025-01-01)

Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation

Por Sophia Lenz, Ajilan Sivaloganathan, Sarah J. Goodman, Cheryl Cytrynbaum, Jesiqua Rapley, Emma Canning, Danielle Baribeau
Publicado no Journal of Neurodevelopmental Disorders (2025-04-01)

Development of a storytelling communication facilitation tool (SCFT) to facilitate discussion of complex genetic diagnoses between parents and their children: A pilot study using 2...

Por Simina Bogatan, Andrea Shugar, Syed Wasim, Susan Ball, Cathryn Schmidt, David Chitayat, Cheryl Shuman, Cheryl Cytrynbaum
Publicado no PEC Innovation (2023-12-01)

Transition services in 22q11 deletion syndrome: Hit or miss

Por Sophie Ayoub, Sandra Meier, Cheryl Cytrynbaum, Ann Swillen, Luzius A. Steiner, Holly Carbyn, Bernice S. Elger, Eva De Clercq
Publicado no Health Care Transitions (2025-01-01)

The mental health and traumatic experiences of mothers of children with 22q11DS

Por Alexandra Finless, Andrea L. Rideout, Ting Xiong, Holly Carbyn, Patricia Lingley-Pottie, Lisa D. Palmer, Andrea Shugar, Donna M. McDonald-McGinn, Patrick J. McGrath, Anne S. Bassett, Cheryl Cytrynbaum, Matt Orr, Ann Swillen, Sandra Meier
Publicado no European Journal of Psychotraumatology (2024-12-01)

Evaluating the relationship between caregiver depression, social support, and children’s internalizing and externalizing symptoms in families affected by 22q11.2 deletion syndrome...

Por Holly Carbyn, Abiaz Hossain, Raquel L. Dias, Lisa D. Palmer, Sophie Ayoub, Patricia Lingley-Pottie, Patrick J. McGrath, Andrea L. Rideout, Andrea Shugar, Cheryl Cytrynbaum, Donna M. McDonald-McGinn, Ann Swillen, Anne S. Bassett, Sandra Meier
Publicado no Orphanet Journal of Rare Diseases (2025-08-01)

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Por Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg
Publicado no BMC Medical Genomics (2019-07-01)

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

Por Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger
Publicado no npj Genomic Medicine (2024-03-01)