PMC Articles for MedGen (Select 1808299) - PMC

Select item 112392001.

PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders

Lenises de Paula van der Steld, Mario de Seixas Rocha, Ana Marice Teixeira Ladeia, Humberto Lago Livramento, Gervásio Batista Campos, Francisco Carlos da Costa Darrieux, Oscar Campuzano, Ramon Brugada

Einstein (Sao Paulo) 2024; 22: eAO0549. Published online 2024 Jul 10. doi: 10.31744/einstein_journal/2024AO0549

PMCID:: PMC11239200

Abstract Article PDF–1.1M

Select item 99798402.

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 96516083.

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 86856244.

Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region

Xin (Cynthia) Ye, Nicole M Roslin, Andrew D Paterson, Christopher J Lyons, Victor Pegado, Phillip Richmond, Casper Shyr, Oriol Fornes, XiaoHua Han, Michelle Higginson, Colin J Ross, Deborah Giaschi, Cheryl Gregory-Evans, Millan S Patel, Wyeth W Wasserman

J Med Genet. 2022 Jan; 59(1): 46–55. Published online 2020 Nov 30. doi: 10.1136/jmedgenet-2020-107226

PMCID:: PMC8685624

Abstract Article PDF–3.4M

Select item 81977095.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Ilaria Parenti, Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A. de Man, Heidi Cope, Vandana Shashi, Undiagnosed Diseases Network, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M. van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frédéric Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M. B. H. van de Laar, Marjon A. van Slegtenhorst, Philippe M. Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J. Louie, Michael J. Lyons, Amy Dobson, Astrid S. Plomp, M. Mahdi Motazacker, Frank J. Kaiser, Andrew T. Timberlake, Sabine A. Fuchs, Christel Depienne, Cyril Mignot

Hum Genet. 2021; 140(7): 1109–1120. Published online 2021 May 4. doi: 10.1007/s00439-021-02283-2

PMCID:: PMC8197709

Abstract Article PDF–2.0M

Select item 12355306.

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

Kenichiro Yamada, Yasukazu Yamada, Noriko Nomura, Kiyokuni Miura, Rie Wakako, Chiemi Hayakawa, Akiko Matsumoto, Toshiyuki Kumagai, Ikuko Yoshimura, Shuji Miyazaki, Kanefusa Kato, Shin-ichi Sonta, Hiroshi Ono, Tsutomu Yamanaka, Masahiro Nagaya, Nobuaki Wakamatsu

Am J Hum Genet. 2001 Dec; 69(6): 1178–1185. Published online 2001 Oct 2. doi: 10.1086/324343

PMCID:: PMC1235530

Abstract Article PDF–417K

Select item 10154797.

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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