PMC Articles for MedGen (Select 339994) - PMC

Sergio Serrada-Tejeda, Patricia Sánchez-Herrera-Baeza, Rosa M. Martínez-Piédrola, Nuria Máximo-Bocanegra, Nuria Trugeda-Pedrajo, M.ª Pilar Rodríguez-Pérez, Gemma Fernández-Gómez, Marta Pérez-de-Heredia-Torres

Children (Basel) 2023 Jun; 10(6): 1086. Published online 2023 Jun 20. doi: 10.3390/children10061086

PMCID:: PMC10296885

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An IGFBP2-derived peptide promotes neuroplasticity and rescues deficits in a mouse model of Phelan-McDermid syndrome

Jeffrey S. Burgdorf, Sehyoun Yoon, Marc Dos Santos, Catherine R. Lammert, Joseph R. Moskal, Peter Penzes

Mol Psychiatry. Author manuscript; available in PMC 2023 Apr 10.

Published in final edited form as: Mol Psychiatry. 2023 Mar; 28(3): 1101–1111. Published online 2022 Dec 8. doi: 10.1038/s41380-022-01904-0

PMCID:: PMC10084719

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Head Size in Phelan–McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13

Sara M. Sarasua, Jane M. DeLuca, Curtis Rogers, Katy Phelan, Lior Rennert, Kara E. Powder, Katherine Weisensee, Luigi Boccuto

Genes (Basel) 2023 Mar; 14(3): 540. Published online 2023 Feb 21. doi: 10.3390/genes14030540

PMCID:: PMC10048319

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Increased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome

Sarah Jesse, Lukas Kuhlmann, Laura S. Hildebrand, Henriette Magelssen, Martina Schmaus, Beate Timmermann, Stephanie Andres, Rainer Fietkau, Luitpold V. Distel

Cells. 2023 Mar; 12(5): 820. Published online 2023 Mar 6. doi: 10.3390/cells12050820

PMCID:: PMC10000830

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Stratification of a Phelan–McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor

Bridgette A. Moffitt, Sara M. Sarasua, Diana Ivankovic, Linda D. Ward, Kathleen Valentine, William E. Bennett, Jr., Curtis Rogers, Katy Phelan, Luigi Boccuto

Genes (Basel) 2023 Feb; 14(2): 490. Published online 2023 Feb 15. doi: 10.3390/genes14020490

PMCID:: PMC9956088

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Opportunities for ABA intervention in Phelan–McDermid syndrome

Kate A. Schroeder, Benjamin N. Witts, Michele R. Traub

Int J Dev Disabil. 2022; 68(6): 984–989. Published online 2021 Mar 9. doi: 10.1080/20473869.2021.1895698

PMCID:: PMC9936992

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“Your Life Turns Upside Down”: A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome

Cristina García-Bravo, Domingo Palacios-Ceña, Elisabet Huertas-Hoyas, Jorge Pérez-Corrales, Sergio Serrada-Tejeda, Marta Pérez-de-Heredia-Torres, Javier Gueita-Rodríguez, Rosa Mª Martínez-Piédrola

Children (Basel) 2023 Jan; 10(1): 73. Published online 2022 Dec 30. doi: 10.3390/children10010073

PMCID:: PMC9856272

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Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Michael S. Breen, Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman, Anna S. Tocheva, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M. Powell, Jonathan A. Bernstein, Alexander Kolevzon, Joseph D. Buxbaum, the Developmental Synaptopathies Consortium

HGG Adv. 2023 Jan 12; 4(1): 100145. Published online 2022 Sep 26. doi: 10.1016/j.xhgg.2022.100145

PMCID:: PMC9579712

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Sleep and Phelan–McDermid Syndrome: Lessons from the International Registry and the scientific literature

Bridgette A. Moffitt, Sara M. Sarasua, Linda Ward, Diana Ivankovic, Kathleen Valentine, Curtis Rogers, Katy Phelan, Luigi Boccuto

Mol Genet Genomic Med. 2022 Oct; 10(10): e2035. Published online 2022 Aug 23. doi: 10.1002/mgg3.2035

PMCID:: PMC9544216

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Social and Family Challenges of Having a Child Diagnosed with Phelan-McDermid Syndrome: A Qualitative Study of Parents’ Experiences

Cristina García-Bravo, Domingo Palacios-Ceña, Sara García-Bravo, Jorge Pérez-Corrales, Marta Pérez-de-Heredia-Torres, Rosa Mª Martínez-Piédrola

Int J Environ Res Public Health. 2022 Sep; 19(17): 10524. Published online 2022 Aug 24. doi: 10.3390/ijerph191710524

PMCID:: PMC9518052

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Prenatal and postnatal diagnosis of Phelan–McDermid syndrome: A report of 21 cases from a medical center and review of the literature

Ying Hao, Yang Liu, Jingxin Yang, Xingping Li, Fuwei Luo, Qian Geng, Suli Li, Peining Li, Weiqing Wu, Jiansheng Xie

Front Genet. 2022; 13: 961196. Published online 2022 Aug 31. doi: 10.3389/fgene.2022.961196

PMCID:: PMC9470928

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Phelan–McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses

Liang Chen, Zhi-ye Yao, Xiangtao Wu, Shao-ru He, Yu-mei Liu, Xue-yan Wang, De-zhi Cao, Xing-kun Yang, Jian-bo Zhao, Zi Ren, Hong Li, Zheng Pei, Hong-ke Ding, Zhi-chun Feng

Front Pediatr. 2022; 10: 888001. Published online 2022 Aug 23. doi: 10.3389/fped.2022.888001

PMCID:: PMC9445366

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Sensory processing and adaptive behavior in Phelan-McDermid syndrome: a cross-sectional study

Sergio Serrada-Tejeda, María-Luz Cuadrado, Rosa Mª Martínez-Piédrola, Nuria Máximo-Bocanegra, Patricia Sánchez-Herrera-Baeza, Lucía Rocío Camacho-Montaño, Marta Pérez-de-Heredia-Torres

Eur J Pediatr. 2022; 181(8): 3141–3152. Published online 2022 Jul 15. doi: 10.1007/s00431-022-04564-y

PMCID:: PMC9352617

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Descriptive Analysis of Adaptive Behavior in Phelan–McDermid Syndrome and Autism Spectrum Disorder

Sergio Serrada-Tejeda, Rosa M. Martínez-Piédrola, Nuria Máximo-Bocanegra, Patricia Sánchez-Herrera-Baeza, Marta Pérez-de-Heredia-Torres

Front Neurosci. 2022; 16: 893003. Published online 2022 Jul 4. doi: 10.3389/fnins.2022.893003

PMCID:: PMC9295709

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State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes

Megan D. McCoy, Sara M. Sarasua, Jane M. DeLuca, Stephanie Davis, Katy Phelan, Roger Curtis Rogers, Luigi Boccuto

Genes (Basel) 2022 Jun; 13(6): 1042. Published online 2022 Jun 10. doi: 10.3390/genes13061042

PMCID:: PMC9223119

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Understanding Behavior in Phelan-McDermid Syndrome

Annemiek M. Landlust, Linda Visser, Boudien C. T. Flapper, Selma A. J. Ruiter, Renée J. Zwanenburg, Conny M. A. van Ravenswaaij-Arts, Ingrid D. C. van Balkom

Front Psychiatry. 2022; 13: 836807. Published online 2022 May 26. doi: 10.3389/fpsyt.2022.836807

PMCID:: PMC9178081

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Case study: organizing outpatient pharmacological treatment of bipolar disorder in autism, intellectual disability and Phelan-McDermid syndrome (22q13.3 deletion syndrome)

Anne Langseth Rysstad, Arvid Nikolai Kildahl, Jon Olav Skavhaug, Monica Stolen Dønnum, Sissel Berge Helverschou

Int J Dev Disabil. 2022; 68(3): 378–387. Published online 2020 Jun 9. doi: 10.1080/20473869.2020.1756113

PMCID:: PMC9122368

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Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome

Emily L. Isenstein, Hannah E. Grosman, Sylvia B. Guillory, Yian Zhang, Sarah Barkley, Christopher S. McLaughlin, Tess Levy, Danielle Halpern, Paige M. Siper, Joseph D. Buxbaum, Alexander Kolevzon, Jennifer H. Foss-Feig

Front Neurosci. 2022; 16: 815933. Published online 2022 May 3. doi: 10.3389/fnins.2022.815933