PMC Articles for MedGen (Select 394425) - PMC

Michael J Friez, Susan Sklower Brooks, Roger E Stevenson, Michael Field, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Raman Kumar, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Jozef Gecz, Charles E Schwartz

BMJ Open. 2016; 6(4): e009537. Published online 2016 Apr 29. doi: 10.1136/bmjopen-2015-009537

PMCID:: PMC4854010

Abstract Article PDF–1.2M

Select item 80801784.

Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities

Rossana Aprigliano, Merdane Ezgi Aksu, Stefano Bradamante, Boris Mihaljevic, Wei Wang, Kristin Rian, Nicola P. Montaldo, Kayla Mae Grooms, Sarah L. Fordyce Martin, Diana L. Bordin, Matthias Bosshard, Yunhui Peng, Emil Alexov, Cindy Skinner, Nina-Beate Liabakk, Gareth J. Sullivan, Magnar Bjørås, Charles E. Schwartz, Barbara van Loon

Cell Rep Med. 2021 Apr 20; 2(4): 100240. Published online 2021 Apr 8. doi: 10.1016/j.xcrm.2021.100240

PMCID:: PMC8080178

Abstract Article PDF–4.2M

Select item 110496445.

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene

Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella

Genes (Basel) 2024 Apr; 15(4): 430. Published online 2024 Mar 29. doi: 10.3390/genes15040430

PMCID:: PMC11049644

Abstract Article PDF–732K

Select item 110322526.

Epigenetic Causes of Overgrowth Syndromes

Julian C Lui, Jeffrey Baron

J Clin Endocrinol Metab. 2024 Feb; 109(2): 312–320. Published online 2023 Jul 14. doi: 10.1210/clinem/dgad420

PMCID:: PMC11032252

Abstract Article

Select item 107969547.

Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning

Clemer Abad, Maria C. Robayo, Maria del Mar Muñiz-Moreno, Maria T. Bernardi, Maria G. Otero, Christina Kosanovic, Anthony J. Griswold, Tyler Mark Pierson, Katherina Walz, Juan I. Young

Transl Psychiatry. 2024; 14: 33. Published online 2024 Jan 18. doi: 10.1038/s41398-023-02678-x

PMCID:: PMC10796954

Abstract Article PDF–3.5M

Select item 107611538.

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders

Elly I. Lewerissa, Nael Nadif Kasri, Katrin Linda

Autophagy. 2024; 20(1): 15–28. Published online 2023 Sep 6. doi: 10.1080/15548627.2023.2250217

PMCID:: PMC10761153

Abstract Article PDF–2.1M

Select item 105508489.

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome

Yosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, Hiroshi Futagawa, Chloé Quélin, Saori Masuda, Antonio Vitobello, Shiomi Otsuji, Hossam H. Shawki, Hisashi Oishi, Christel Thauvin-Robinet, Toshiki Takenouchi, Kenjiro Kosaki, Yoshiyuki Takahashi, Shinji Saitoh

HGG Adv. 2023 Oct 12; 4(4): 100238. Published online 2023 Sep 14. doi: 10.1016/j.xhgg.2023.100238

PMCID:: PMC10550848

Abstract Article PDF–4.9M

Select item 1053085510.

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, María Palomares, Emi Rikeros, Feliciano J. Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D’Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The SOGRI Consortium, Julián Nevado, Pablo Lapunzina

Genes (Basel) 2023 Sep; 14(9): 1664. Published online 2023 Aug 23. doi: 10.3390/genes14091664

PMCID:: PMC10530855

Abstract Article PDF–603K

Select item 1048563711.

Quantitative proteomics and phosphoproteomics of PP2A-PPP2R5D variants reveal deregulation of RPS6 phosphorylation via converging signaling cascades

Kali A. Smolen, Cinta M. Papke, Mark R. Swingle, Alla Musiyenko, Chenchen Li, E. Alan Salter, Ashley D. Camp, Richard E. Honkanen, Arminja N. Kettenbach

J Biol Chem. 2023 Sep; 299(9): 105154. Published online 2023 Aug 10. doi: 10.1016/j.jbc.2023.105154

PMCID:: PMC10485637

Abstract Article PDF–2.9M

Select item 1045404112.

Sarah Abi Raad, Vanda Yazbeck Karam, Eliane Chouery, Cybel Mehawej, Andre Megarbane

Genes (Basel) 2023 Aug; 14(8): 1546. Published online 2023 Jul 28. doi: 10.3390/genes14081546

PMCID:: PMC10454041

Abstract Article PDF–595K

Select item 1039318613.

Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care

Alexis D. Levine, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2023 Jun; 9(3): a006285. doi: 10.1101/mcs.a006285

PMCID:: PMC10393186

Abstract Article PDF–863K

Select item 1029783214.

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina

Genes (Basel) 2023 Jun; 14(6): 1179. Published online 2023 May 29. doi: 10.3390/genes14061179

PMCID:: PMC10297832

Abstract Article PDF–1.8M

Select item 1025613915.

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Clara Velmans, Anne H O’Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-them, Antonio Vitobello, Marcus CY Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne-Sophie Denommé-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M B.H van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphné Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S Pais, Heather Paterson, Subhadra Ramanathan, Lance H Rodan, Andrea Superti-Furga, Brian H.Y. Chung, Elliott Sherr, Christian Netzer, Christian P Schaaf, Florian Erger

J Med Genet. Author manuscript; available in PMC 2023 Jun 9.

Published in final edited form as: J Med Genet. 2022 Jul; 59(7): 697–705. Published online 2021 Jul 28. doi: 10.1136/jmedgenet-2020-107470

PMCID:: PMC10256139

Abstract Article PDF–563K

Select item 1009169416.

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia

Am J Med Genet A. 2023 Feb; 191(2): 540–545. Published online 2022 Nov 2. doi: 10.1002/ajmg.a.63018

PMCID:: PMC10091694

Abstract Article PDF–4.1M

Select item 983075517.

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

Jianlong Zhuang, Meihua Xie, Jianfeng Yao, Wanyu Fu, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen

BMC Med Genomics. 2023; 16: 3. Published online 2023 Jan 9. doi: 10.1186/s12920-023-01433-x

PMCID:: PMC9830755

Abstract Article PDF–1.2M

Select item 976294418.

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

Siddharth Banka, Abigail Bennington, Martin J Baker, Ellen Rijckmans, Giuliana D Clemente, Nurhuda Mohamad Ansor, Hilary Sito, Pritha Prasad, Kwame Anyane-Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna C E Hurst, Anna C Jansen, Melissa A Kelly, Ian Krantz, Claudine Rieubland, Meredith Ross, Natasha L Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G Kazanietz, Tom H Millard

Brain. 2022 Dec; 145(12): 4232–4245. Published online 2022 Feb 10. doi: 10.1093/brain/awac049

PMCID:: PMC9762944

Abstract Article PDF–1.3M

Select item 963506619.

High-grade desmoplastic infantile astrocytoma in a 1-year-old child with Down’s syndrome: a case report

Muhammad Hamza Habib, Mehvish Zahra Alavi, Amber Goraya, Samina Zaman, Alia Ahmed

J Med Case Rep. 2022; 16: 427. Published online 2022 Nov 4. doi: 10.1186/s13256-022-03615-0

PMCID:: PMC9635066

Abstract Article PDF–2.0M

Select item 954420820.

X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene

Fatemeh Shakarami, Mehdi Jahani, Zahra Nouri, Mohammad Amin Tabatabaiefar

Mol Genet Genomic Med. 2022 Oct; 10(10): e2034. Published online 2022 Aug 13. doi: 10.1002/mgg3.2034

PMCID:: PMC9544208

Abstract Article PDF–1.8M

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