PMC Articles for MedGen (Select 1625009) - PMC

Select item 107547231.

A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency

Nagham M. Elbagoury, Asmaa F. Abdel-Aleem, Wessam E. Sharaf-Eldin, Engy A. Ashaat, Mona L. Esswai

J Mol Neurosci. 2023; 73(11-12): 976–982. Published online 2023 Nov 4. doi: 10.1007/s12031-023-02170-7

PMCID:: PMC10754723

Select item 106906842.

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu

Epilepsia Open. 2023 Dec; 8(4): 1383–1404. Published online 2023 Aug 25. doi: 10.1002/epi4.12811

PMCID:: PMC10690684

Abstract Article PDF–4.6M

Select item 106680413.

Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report

Ljubica Odak, Katarina Vulin, Ana-Maria Meašić, Lara Šamadan, Ana Tripalo Batoš

Croat Med J. 2023 Oct; 64(5): 334–338. doi: 10.3325/cmj.2023.64.334

PMCID:: PMC10668041

Abstract Article PDF–1.2M

Select item 104542764.

A case report of Williams syndrome with main clinical manifestation of hypercalcemia and gastrointestinal bleeding as the main clinical manifestations, and with an accompanying literature review

Hong Meng, Yue‐Xin Jia, Hui‐Min Yang, Xin Gao, Cha‐Gan‐Hu Li, Guo‐Yan Xin, Yu‐Min Wang

Brain Behav. 2023 Aug; 13(8): e3131. Published online 2023 Jun 20. doi: 10.1002/brb3.3131

PMCID:: PMC10454276

Abstract Article PDF–390K

Select item 99798405.

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 81303626.

A new family with spastic paraplegia type 51 and novel mutations in AP4E1

Izabela Winkler, Paweł Miotła, Monika Lejman, Aleksandra Pietrzyk, Magdalena Kacprzak, Marcin Kubiak, Agnieszka Sobczyńska-Tomaszewska, Maciej Skrzypczak, Ilona Jaszczuk

BMC Med Genomics. 2021; 14: 131. Published online 2021 May 18. doi: 10.1186/s12920-021-00980-5

PMCID:: PMC8130362

Abstract Article PDF–1.0M

Select item 80194527.

A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome

Yu Tanaka, Naoya Morisada, Tomohiro Suzuki, Yoshitaka Ohashi, Ming Juan Ye, Kandai Nozu, Satoru Tsuruta, Kazumoto Iijima

CEN Case Rep. 2021 May; 10(2): 184–188. Published online 2020 Oct 13. doi: 10.1007/s13730-020-00543-0

PMCID:: PMC8019452

Abstract Article PDF–1.1M

Select item 75742138.

Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation

Mouhamed Alsaqati, Vivi M. Heine, Adrian J. Harwood

Mol Autism. 2020; 11: 80. Published online 2020 Oct 19. doi: 10.1186/s13229-020-00391-w

PMCID:: PMC7574213

Abstract Article PDF–2.5M

Select item 42152879.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel-Paulet, Marjolaine Willems, Gaétan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie-Ange Delrue, Valérie Drouin-Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu-Dramard, Dominique Martin-Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin-Robinet, Julien Thevenon, Martine Doco-Fenzy, David Genevieve, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean-Louis Mandel, Amélie Piton

J Med Genet. 2014 Nov; 51(11): 724–736. Published online 2014 Aug 28. doi: 10.1136/jmedgenet-2014-102554

PMCID:: PMC4215287

Abstract Article PDF–2.6M

Select item 103154910.

Hereditary progressive chorea without dementia.

W Schady, R J Meara

J Neurol Neurosurg Psychiatry. 1988 Feb; 51(2): 295–297. doi: 10.1136/jnnp.51.2.295

PMCID:: PMC1031549

Summary Page Browse PDF–469K

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