PMC Articles for MedGen (Select 1784554) - PMC

Select item 103790321.

Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability

Carla Lintas, Angelo Facchiano, Alessia Azzarà, Ilaria Cassano, Claudio Tabolacci, Cinzia Galasso, Fiorella Gurrieri

Genes (Basel) 2023 Jul; 14(7): 1353. Published online 2023 Jun 27. doi: 10.3390/genes14071353

PMCID:: PMC10379032

Article PDF–2.4M

Select item 99286062.

Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review

Hannah Gabriela Valverde de Morales, Hsiao-Lin V. Wang, Kathryn Garber, Xiaodong Cheng, Victor G. Corces, Hong Li

Am J Med Genet A. Author manuscript; available in PMC 2024 Mar 1.

Published in final edited form as: Am J Med Genet A. 2023 Mar; 191(3): 718–729. Published online 2022 Dec 1. doi: 10.1002/ajmg.a.63065

PMCID:: PMC9928606

Article PDF–1.4M

Select item 81977213.

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Irma Järvelä, Tuomo Määttä, Anushree Acharya, Juha Leppälä, Shalini N. Jhangiani, Maria Arvio, Auli Siren, Minna Kankuri-Tammilehto, Hannaleena Kokkonen, Maarit Palomäki, Teppo Varilo, Mary Fang, Trevor D. Hadley, Angad Jolly, Tarja Linnankivi, Ritva Paetau, Anni Saarela, Reetta Kälviäinen, Jan Olme, Liz M. Nouel-Saied, Diana M. Cornejo-Sanchez, Lorida Llaci, James R. Lupski, Jennifer E. Posey, Suzanne M. Leal, Isabelle Schrauwen

Hum Genet. 2021; 140(7): 1011–1029. Published online 2021 Mar 12. doi: 10.1007/s00439-021-02268-1

PMCID:: PMC8197721

Article PDF–697K

Select item 81977094.

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

Article PDF–2.0M

Select item 13778665.

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

A C Jones, M M Shyamsundar, M W Thomas, J Maynard, S Idziaszczyk, S Tomkins, J R Sampson, J P Cheadle

Am J Hum Genet. 1999 May; 64(5): 1305–1315. doi: 10.1086/302381

PMCID:: PMC1377866

Summary PDF–282K

Select item 13777566.

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

L Potocki, K S Chen, T Koeuth, J Killian, S T Iannaccone, S K Shapira, C D Kashork, A S Spikes, L G Shaffer, J R Lupski

Am J Hum Genet. 1999 Feb; 64(2): 471–478. doi: 10.1086/302240

PMCID:: PMC1377756

Summary PDF–746K

Select item 165477.

Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix–loop–helix domains

Dashzeveg Bayarsaihan, Frank H. Ruddle

Proc Natl Acad Sci U S A. 2000 Jun 20; 97(13): 7342–7347. doi: 10.1073/pnas.97.13.7342

PMCID:: PMC16547

Article PDF–186K

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