PMC Articles for MedGen (Select 1619532) - PMC

Select item 89229691.

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients

Jianbo Zhao, Guizhen Lyu, Changhong Ding, Xiaohui Wang, Jiuwei Li, Weihua Zhang, Xinying Yang, Victor Wei Zhang

Mol Genet Genomic Med. 2022 Mar; 10(3): e1825. Published online 2022 Feb 14. doi: 10.1002/mgg3.1825

PMCID:: PMC8922969

Article PubReader PDF–1.0M Cite

Select item 84963472.

Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer disease: a cross-sectional study

Anne M. Fagan, Rachel L. Henson, Yan Li, Anna H. Boerwinkle, Chengjie Xiong, Randall J Bateman, Alison Goate, Beau M. Ances, Eric Doran, Bradley T. Christian, Florence Lai, H. Diana Rosas, Nicole Schupf, Sharon Krinsky-McHale, Wayne Silverman, Joseph H. Lee, William E. Klunk, Benjamin L. Handen, Ricardo F. Allegri, Jasmeer P. Chhatwal, Gregory S. Day, Neill R. Graff-Radford, Mathias Jucker, Johannes Levin, Ralph N. Martins, Colin L Masters, Hiroshi Mori, Catherine J. Mummery, Yoshiki Niimi, John M. Ringman, Stephen Salloway, Peter R. Schofield, Mikio Soji, Ira T. Lott

Lancet Neurol. Author manuscript; available in PMC 2022 Aug 1.

Published in final edited form as: Lancet Neurol. 2021 Aug; 20(8): 615–626. doi: 10.1016/S1474-4422(21)00139-3

Correction in:: Lancet Neurol. 2022 Jul; 21(7): e7.

Correction in:: volume 21 on page e7

PMCID:: PMC8496347

Article PubReader PDF–1021K Cite

Select item 75920843.

Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome

S.R. Sripathy, Y. Wang, R.L. Moses, A. Fatemi, D.A. Batista, B.J. Maher

Stem Cell Res. Author manuscript; available in PMC 2020 Oct 28.

Published in final edited form as: Stem Cell Res. 2020 Oct; 48: 102001. Published online 2020 Sep 17. doi: 10.1016/j.scr.2020.102001

PMCID:: PMC7592084

Article PubReader PDF–988K Cite

Select item 57081474.

Contiguous Gene Deletion of Chromosome 2p16.3-p21 as a Cause of Lynch Syndrome

Erin E. Salo-Mullen, Patricio B. Lynn, Lu Wang, Michael Walsh, Anuradha Gopalan, Jinru Shia, Christina Tran, Fung Ying Man, Sean McBride, Mark Schattner, Liying Zhang, Martin R. Weiser, Zsofia K. Stadler

Fam Cancer. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Fam Cancer. 2018 Jan; 17(1): 71–77. doi: 10.1007/s10689-017-0006-x

PMCID:: PMC5708147

Article PubReader PDF–819K Cite

Select item 36268295.

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, Daniela Rusconi, Maura Masciadri, Anna Cereda, Cinzia Marzocchi, Giuseppe Zampino, Angelo Selicorni, Romano Tenconi, Silvia Russo, Lidia Larizza, Palma Finelli

BMC Med Genet. 2013; 14: 41. Published online 2013 Apr 3. doi: 10.1186/1471-2350-14-41

PMCID:: PMC3626829

Article PubReader PDF–507K Cite

Select item 34848736.

Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development

Fadi A. Issa, Allan F. Mock, Alvaro Sagasti, Diane M. Papazian

Dis Model Mech. 2012 Nov; 5(6): 921–929. Published online 2012 Jun 26. doi: 10.1242/dmm.010157

PMCID:: PMC3484873

Article PubReader Cite

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 6

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity