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Select item 73041901.

Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism

Michael S. Breen, Andrew Browne, Gabriel E. Hoffman, Sofia Stathopoulos, Kristen Brennand, Joseph D. Buxbaum, Elodie Drapeau

Mol Autism. 2020; 11: 53. Published online 2020 Jun 19. doi: 10.1186/s13229-020-00355-0

PMCID:: PMC7304190

Abstract Article PDF–3.7M

Select item 82132782.

Lymphedema complicated by protein-losing enteropathy with a 22q13.3 deletion and the potential role of CELSR1: A case report

Song Xia, Zhong Liu, Huifang Yan, Kun Chang, Yuguang Sun, Jingmin Wang, Wenbin Shen

Medicine (Baltimore) 2021 Jun 18; 100(24): e26307. Published online 2021 Jun 18. doi: 10.1097/MD.0000000000026307

PMCID:: PMC8213278

Abstract Article PDF–488K

Select item 81038893.

Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome

Kellie Gergoudis, Alan Weinberg, Jonathan Templin, Cristan Farmer, Alison Durkin, Jordana Weissman, Paige Siper, Jennifer Foss-Feig, Maria del Pilar Trelles, Jonathan A. Bernstein, Joseph D. Buxbaum, Elizabeth Berry-Kravis, Craig M. Powell, Mustafa Sahin, Latha Soorya, Audrey Thurm, Alexander Kolevzon, Developmental Synaptopathies Consortium

Autism Res. Author manuscript; available in PMC 2021 May 7.

Published in final edited form as: Autism Res. 2020 Aug; 13(8): 1383–1396. Published online 2020 May 14. doi: 10.1002/aur.2299

PMCID:: PMC8103889

Abstract Article PDF–842K

Select item 80826214.

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

Michael. G. Mariscal, Elizabeth Berry-Kravis, Joseph D. Buxbaum, Lauren E. Ethridge, Rajna Filip-Dhima, Jennifer H. Foss-Feig, Alexander Kolevzon, Meera. E. Modi, Matthew W. Mosconi, Charles A. Nelson, Craig M. Powell, Paige M. Siper, Latha Soorya, Andrew Thaliath, Audrey Thurm, Bo Zhang, Mustafa Sahin, April R. Levin, the Developmental Synaptopathies Consortium

Mol Autism. 2021; 12: 29. Published online 2021 Apr 28. doi: 10.1186/s13229-020-00411-9

PMCID:: PMC8082621

Abstract Article PDF–1.0M

Select item 79562875.

Phelan McDermid Syndrome: Multiple Sclerosis as a Rare but Treatable Cause for Regression—A Case Report

Sarah Jesse, Jan Philipp Delling, Michael Schön, Tobias M Boeckers, Albert Ludolph, Makbule Senel

Int J Mol Sci. 2021 Mar; 22(5): 2311. Published online 2021 Feb 25. doi: 10.3390/ijms22052311

PMCID:: PMC7956287

Abstract Article PDF–5.9M

Select item 79427756.

Examining factors affecting parental satisfaction with speech therapy in children with Phelan-McDermid Syndrome

Thomas Meersman, Kathleen Mathieson

Int J Dev Disabil. 2020; 66(4): 304–316. Published online 2019 Mar 27. doi: 10.1080/20473869.2019.1582906

PMCID:: PMC7942775

Abstract Article PDF–623K

Select item 79345627.

A case report of Phelan-McDermid syndrome: preliminary results of the treatment with growth hormone therapy

Rui Jin Xie, Tian Xiao Li, Chenyu Sun, Ce Cheng, Jinlin Zhao, Hua Xu, Yueying Liu

Ital J Pediatr. 2021; 47: 49. Published online 2021 Mar 4. doi: 10.1186/s13052-021-01003-w

Correction in:: Ital J Pediatr. 2021; 47: 89.

PMCID:: PMC7934562

Abstract Article PDF–825K

Select item 77898178.

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

L. C. Schenkel, E. Aref-Eshghi, K. Rooney, J. Kerkhof, M. A. Levy, H. McConkey, R. C. Rogers, K. Phelan, S. M. Sarasua, L. Jain, R. Pauly, L. Boccuto, B. DuPont, G. Cappuccio, N. Brunetti-Pierri, C. E. Schwartz, B. Sadikovic

Clin Epigenetics. 2021; 13: 2. Published online 2021 Jan 6. doi: 10.1186/s13148-020-00990-7

PMCID:: PMC7789817

Abstract Article PDF–2.8M

Select item 77081019.

A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Na Xu, Hui Lv, Tingting Yang, Xiujuan Du, Yu Sun, Bing Xiao, Yanjie Fan, Xiaomei Luo, Yongkun Zhan, Lili Wang, Fei Li, Yongguo Yu

Orphanet J Rare Dis. 2020; 15: 335. Published online 2020 Nov 30. doi: 10.1186/s13023-020-01592-5

PMCID:: PMC7708101

Abstract Article PDF–1.6M

Select item 753942310.

Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review

Shan Li, Ke-wang Xi, Ting Liu, Ying Zhang, Meng Zhang, Li-dong Zeng, Juan Li

BMC Med Genomics. 2020; 13: 146. Published online 2020 Oct 6. doi: 10.1186/s12920-020-00802-0

PMCID:: PMC7539423

Abstract Article PDF–4.4M

Select item 825181511.

Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes

Arianna Ricciardello, Pasquale Tomaiuolo, Antonio M. Persico

Am J Med Genet A. 2021 Jul; 185(7): 2211–2233. Published online 2021 May 5. doi: 10.1002/ajmg.a.62222

PMCID:: PMC8251815

Abstract Article PDF–2.6M

Select item 729893512.

Bringing everyone to the table – findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference

Kimberly Goodspeed, Geraldine Bliss, Diane Linnehan

Orphanet J Rare Dis. 2020; 15: 152. Published online 2020 Jun 16. doi: 10.1186/s13023-020-01389-6

PMCID:: PMC7298935

Abstract Article PDF–1.2M

Select item 729173413.

Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi, Marco Fichera

Mol Cytogenet. 2020; 13: 22. Published online 2020 Jun 11. doi: 10.1186/s13039-020-00490-6

PMCID:: PMC7291734

Abstract Article PDF–936K

Select item 1158299114.

Prevalencia del síndrome de Phelan-McDermid en España

Bárbara Gómez-Taylor, Mari-Luz Moreno-Sancho, Eraci Drehmer-Rieger, Sandra Carrera-Juliá, Julián Nevado, Francisca Sempere-Ferre

Rev Esp Salud Publica. 2020 Jan-Dec; 94: e202012121. Spanish. Published online 2020 Dec 21.

PMCID:: PMC11582991

Abstract Article PDF–1.3M

Select item 701465515.

Psychiatric illness and regression in individuals with Phelan-McDermid syndrome

Teresa M. Kohlenberg, M. Pilar Trelles, Brittany McLarney, Catalina Betancur, Audrey Thurm, Alexander Kolevzon

J Neurodev Disord. 2020; 12: 7. Published online 2020 Feb 12. doi: 10.1186/s11689-020-9309-6

PMCID:: PMC7014655

Abstract Article PDF–617K

Select item 699597616.

Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome

Gilles Droogmans, Ann Swillen, Griet Van Buggenhout

Mol Syndromol. 2020 Jan; 10(6): 294–305. Published online 2019 Nov 5. doi: 10.1159/000503840

PMCID:: PMC6995976

Abstract Article PDF–394K

Select item 693068217.

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature

Alexander Kolevzon, Elsa Delaby, Elizabeth Berry-Kravis, Joseph D. Buxbaum, Catalina Betancur

Mol Autism. 2019; 10: 50. Published online 2019 Dec 24. doi: 10.1186/s13229-019-0291-3

PMCID:: PMC6930682

Abstract Article PDF–758K

Select item 665834818.

Incontinence in Phelan-McDermid Syndrome

Claire Witmer, Aviva Mattingly, Precilla D’Souza, Audrey Thurm, Colleen Hadigan

J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2020 Aug 1.

Published in final edited form as: J Pediatr Gastroenterol Nutr. 2019 Aug; 69(2): e39–e42. doi: 10.1097/MPG.0000000000002342

PMCID:: PMC6658348

Abstract Article PDF–175K

Select item 663748319.

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

Claudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, Helen Ferraz, Rodrigo Ambrósio Fock, Ricardo Henrique Almeida Barbosa, André Luiz Santos Pessoa, Ana Beatriz Alvarez Perez, Naila Lourenço, Maria Vibranovski, Ana Krepischi, Carla Rosenberg, Maria Rita Passos-Bueno

J Neurodev Disord. 2019; 11: 13. Published online 2019 Jul 18. doi: 10.1186/s11689-019-9273-1

PMCID:: PMC6637483

Abstract Article PDF–1.6M

Select item 868362020.

Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation

Minna Kankuri‐Tammilehto, Oili Sauna‐aho, Maria Arvio

Mol Genet Genomic Med. 2021 Dec; 9(12): e1780. Published online 2021 Aug 9. doi: 10.1002/mgg3.1780

PMCID:: PMC8683620

Abstract Article PDF–342K

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