PMC Articles for MedGen (Select 1794167) - PMC

Select item 111576901.

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

Reza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona, Antje K. Huebner, Daniel G. Calame, Vinod K. Misra, Saeid Sadeghian, Reza Azizimalamiri, Mohammad Hasan Mohammadi, Jawaher Zeighami, Sogand Heydaran, Mehran Beiraghi Toosi, Javad Akhondian, Meisam Babaei, Narges Hashemi, Rhonda E. Schnur, Mohnish Suri, Jonas Setzke, Matias Wagner, Theresa Brunet, Christopher M. Grochowski, Lisa Emrick, Wendy K. Chung, Ute A. Hellmich, Miriam Schmidts, James R. Lupski, Hamid Galehdari, Mariasavina Severino, Henry Houlden, Christian A. Hübner

Genet Med. 2024 Mar; 26(3): 101034. doi: 10.1016/j.gim.2023.101034

PMCID:: PMC11157690

Abstract Article PDF–3.3M

Select item 102978322.

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 100398183.

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function

Andreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, Claudia Groß, Albert Sickmann, Ulrike Schara-Schmidt, Fabian Förster, Ana Töpf, Jon Christiansen, Rita Horvath, Matthias Vorgerd, Rachel Thompson, Kiran Polavarapu, Hanns Lochmüller, Corinna Preusse, Luis Hannappel, Anne Schänzer, Anika Grüneboom, Andrea Gangfuß, Andreas Roos

Mol Neurobiol. 2023; 60(5): 2602–2618. Published online 2023 Jan 24. doi: 10.1007/s12035-023-03219-9

Correction in:: Mol Neurobiol. 2023; 60(7): 4164.

PMCID:: PMC10039818

Abstract Article PDF–5.9M

Select item 96516084.

Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants

Dan Yan, Yu Sun, Na Xu, Yongguo Yu, Yongkun Zhan, the Mainland Chinese League of NEDSDV Rare Disease

Mol Genet Genomic Med. 2022 Nov; 10(11): e2067. Published online 2022 Sep 24. doi: 10.1002/mgg3.2067

PMCID:: PMC9651608

Abstract Article PDF–1.8M

Select item 96041775.

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature

Špela Miroševič, Shivang Khandelwal, Petra Sušjan, Nina Žakelj, David Gosar, Vida Forstnerič, Duško Lainšček, Roman Jerala, Damjan Osredkar

Int J Mol Sci. 2022 Oct; 23(20): 12564. Published online 2022 Oct 19. doi: 10.3390/ijms232012564

PMCID:: PMC9604177

Abstract Article PDF–3.1M

Select item 95442046.

Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism

Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I. Quigley, Kathleen Angkustsiri, Suma P. Shankar

Mol Genet Genomic Med. 2022 Oct; 10(10): e2018. Published online 2022 Aug 4. doi: 10.1002/mgg3.2018

PMCID:: PMC9544204

Abstract Article PDF–818K

Select item 88304907.

Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study

Jente Verbesselt, Inge Zink, Jeroen Breckpot, Ann Swillen

Am J Med Genet A. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Am J Med Genet A. 2022 Jan; 188(1): 46–57. Published online 2021 Sep 7. doi: 10.1002/ajmg.a.62487

PMCID:: PMC8830490

Abstract Article PDF–312K

Select item 81404408.

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel

Genome Med. 2021; 13: 90. Published online 2021 May 21. doi: 10.1186/s13073-021-00900-3

PMCID:: PMC8140440

Abstract Article PDF–2.6M

Select item 79861719.

The role of eutherian‐specific RTL1 in the nervous system and its implications for the Kagami‐Ogata and Temple syndromes

Moe Kitazawa, Akito Sutani, Tomoko Kaneko‐Ishino, Fumitoshi Ishino

Genes Cells. 2021 Mar; 26(3): 165–179. Published online 2021 Feb 16. doi: 10.1111/gtc.12830

PMCID:: PMC7986171

Abstract Article PDF–1.2M

Select item 770810110.

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 735059911.

Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability

Zhi Yi, Ying Zhang, Zhenfeng Song, Hong Pan, Chengqing Yang, Fei Li, Jiao Xue, Zhenghai Qu

Ital J Pediatr. 2020; 46: 95. Published online 2020 Jul 9. doi: 10.1186/s13052-020-00847-y

PMCID:: PMC7350599

Abstract Article PDF–1.0M

Select item 632360812.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer M. Tarpinian, Jill A. Rosenfeld, Brendan H. Lee, Undiagnosed Diseases Network, Philippe M. Campeau

Am J Hum Genet. 2019 Jan 3; 104(1): 164–178. Published online 2018 Dec 20. doi: 10.1016/j.ajhg.2018.11.007

PMCID:: PMC6323608

Abstract Article PDF–1.8M

Select item 588621113.

Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome

Nycole A Copping, Sarah G B Christian, Dylan J Ritter, M Saharul Islam, Nathalie Buscher, Dorota Zolkowska, Michael C Pride, Elizabeth L Berg, Janine M LaSalle, Jacob Ellegood, Jason P Lerch, Lawrence T Reiter, Jill L Silverman, Scott V Dindot

Hum Mol Genet. 2017 Oct 15; 26(20): 3995–4010. Published online 2017 Jul 19. doi: 10.1093/hmg/ddx289

PMCID:: PMC5886211

Abstract Article PDF–988K

Select item 459209914.

Redefining the MED13L syndrome

Abidemi Adegbola, Luciana Musante, Bert Callewaert, Patricia Maciel, Hao Hu, Bertrand Isidor, Sylvie Picker-Minh, Cedric Le Caignec, Barbara Delle Chiaie, Olivier Vanakker, Björn Menten, Annelies Dheedene, Nele Bockaert, Filip Roelens, Karin Decaestecker, João Silva, Gabriela Soares, Fátima Lopes, Hossein Najmabadi, Kimia Kahrizi, Gerald F Cox, Steven P Angus, John F Staropoli, Ute Fischer, Vanessa Suckow, Oliver Bartsch, Andrew Chess, Hans-Hilger Ropers, Thomas F Wienker, Christoph Hübner, Angela M Kaindl, Vera M Kalscheuer

Eur J Hum Genet. 2015 Oct; 23(10): 1308–1317. Published online 2015 Mar 11. doi: 10.1038/ejhg.2015.26

PMCID:: PMC4592099

Abstract Article PDF–735K

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