PMC Articles for MedGen (Select 907277) - PMC

Select item 105063671.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau

Sci Transl Med. Author manuscript; available in PMC 2023 Nov 30.

Published in final edited form as: Sci Transl Med. 2023 May 31; 15(698): eabo3189. Published online 2023 May 31. doi: 10.1126/scitranslmed.abo3189

PMCID:: PMC10506367

Abstract Article PDF–2.2M

Select item 103625752.

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro

Orphanet J Rare Dis. 2023; 18: 201. Published online 2023 Jul 21. doi: 10.1186/s13023-023-02809-z

PMCID:: PMC10362575

Abstract Article PDF–1.0M

Select item 99798403.

Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer’s disease: a cross-sectional study

Anna H. Boerwinkle, Brian A. Gordon, Julie Wisch, Shaney Flores, Rachel L. Henson, Omar H. Butt, Nicole McKay, Charles D. Chen, Tammie L.S. Benzinger, Anne M. Fagan, Benjamin L. Handen, Bradley T. Christian, Elizabeth Head, Mark Mapstone, William E. Klunk, Michael S. Rafii, Sid O’Bryant, Julie C. Price, Nicole Schupf, Charles M. Laymon, Sharon J. Krinsky-McHale, Florence Lai, H. Diana Rosas, Sigan L. Hartley, Shahid H. Zaman, Ira T. Lott, Wayne Silverman, Adam M. Brickman, Joseph H. Lee, Ricardo F. Allegri, Sarah B. Berman, Jasmeer P. Chhatwal, Carlos Cruchaga, Nick C. Fox, Alison M. Goate, Gregory S. Day, Neill R. Graff-Radford, Mathias Jucker, Jae-Hong Lee, Johannes Levin, Hiroshi Mori, Richard J. Perrin, Stephen Salloway, Peter R. Schofield, Chengjie Xiong, Celeste M. Karch, Jason Hassenstab, Eric McDade, Randall J. Bateman, Beau M. Ances, Alzheimer’s Biomarker Consortium-Down Syndrome, the Dominantly Inherited Alzheimer Network

Lancet Neurol. Author manuscript; available in PMC 2024 Jan 1.

Published in final edited form as: Lancet Neurol. 2023 Jan; 22(1): 55–65. doi: 10.1016/S1474-4422(22)00408-2

PMCID:: PMC9979840

Abstract Article PDF–1.4M

Select item 91755394.

Aortic Root Dilatation and Dilated Cardiomyopathy in an Adult with Tatton-Brown-Rahman Syndrome

Alana C. Cecchi, Amier Haidar, Isabella Marin, Callie S. Kwartler, Siddharth K. Prakash, Dianna M. Milewicz

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

Published in final edited form as: Am J Med Genet A. 2022 Feb; 188(2): 628–634. Published online 2021 Oct 13. doi: 10.1002/ajmg.a.62541

PMCID:: PMC9175539

Abstract Article PDF–632K

Select item 85357455.

Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability

Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, Go-Hun Seo, Duangrurdee Wattanasirichaigoon

Genes (Basel) 2021 Oct; 12(10): 1583. Published online 2021 Oct 7. doi: 10.3390/genes12101583

PMCID:: PMC8535745

Abstract Article PDF–4.4M

Select item 84403556.

Molecular and Cellular Function of TCF4 in Pitt-Hopkins Syndrome

Huei-Ying Chen, Joseph F. Bohlen, Brady J. Maher

Dev Neurosci. Author manuscript; available in PMC 2022 Jun 16.

Published in final edited form as: Dev Neurosci. 2021; 43(3-4): 159–167. Published online 2021 Jun 16. doi: 10.1159/000516666

PMCID:: PMC8440355

Abstract Article PDF–511K

Select item 64898717.

Novel West syndrome candidate genes in a Chinese cohort

Jing Peng, Ying Wang, Fang He, Chen Chen, Li‐Wen Wu, Li‐Fen Yang, Yu‐Ping Ma, Wen Zhang, Zi‐Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang

CNS Neurosci Ther. 2018 Dec; 24(12): 1196–1206. Published online 2018 Apr 17. doi: 10.1111/cns.12860

PMCID:: PMC6489871

Abstract Article PDF–1.0M

Select item 58594848.

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman

BMC Med Genet. 2018; 19: 46. Published online 2018 Mar 20. doi: 10.1186/s12881-018-0555-3

PMCID:: PMC5859484

Abstract Article PDF–432K

Select item 44120259.

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

Wenke Seifert, Peter Meinecke, Gabriele Krüger, Eva Rossier, Wolfram Heinritz, Achim Wüsthof, Denise Horn

BMC Med Genet. 2014; 15: 127. Published online 2014 Nov 30. doi: 10.1186/s12881-014-0127-0

PMCID:: PMC4412025

Abstract Article PDF–1.0M

Select item 105113010.

Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).

M Masuno, K Imaizumi, Y Fukushima, Y Tanaka, T Ishii, M Nakamura, Y Kuroki

J Med Genet. 1997 Nov; 34(11): 952–954. doi: 10.1136/jmg.34.11.952

PMCID:: PMC1051130

Summary Page Browse PDF–786K

Select item 105091311.

RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.

M M Power, R S James, J C Barber, A M Fisher, P J Wood, B A Leatherdale, D E Flanagan, E Hatchwell

J Med Genet. 1997 Apr; 34(4): 287–290. doi: 10.1136/jmg.34.4.287

PMCID:: PMC1050913

Summary Page Browse PDF–1.1M

Select item 105088812.

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

V des Portes, J M Pinard, D Smadja, J Motte, O Boespflüg-Tanguy, M L Moutard, I Desguerre, P Billuart, A Carrie, T Bienvenu, M C Vinet, L Bachner, C Beldjord, O Dulac, A Kahn, G Ponsot, J Chelly

J Med Genet. 1997 Mar; 34(3): 177–183. doi: 10.1136/jmg.34.3.177

PMCID:: PMC1050888

Summary Page Browse PDF–1.5M

Select item 101547913.

Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia.

G N Wilson, W J Oliver

J Med Genet. 1988 Mar; 25(3): 157–163. doi: 10.1136/jmg.25.3.157

PMCID:: PMC1015479

Summary Page Browse PDF–1.3M

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