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Select item 109672011.

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children

Khrystyna Shchubelka, Liudmyla Turova, Walter Wolfsberger, Kelly Kalanquin, Krista Williston, Oleksii Kurutsa, Anastasiia Makovetska, Yaroslava Hasynets, Violeta Mirutenko, Mykhailo Vakerych, Taras K Oleksyk

J Neurodev Disord. 2024; 16: 13. Published online 2024 Mar 27. doi: 10.1186/s11689-024-09528-x

PMCID:: PMC10967201

Abstract Article PDF–1.2M

Select item 106979692.

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome

Brian G. Ballios, Amarilla Mandola, Alaa Tayyib, Anupreet Tumber, Jenny Garkaby, Linda Vong, Elise Heon, Chaim M. Roifman, Ajoy Vincent

Eye (Lond) 2023 Dec; 37(18): 3734–3742. Published online 2023 May 24. doi: 10.1038/s41433-023-02581-1

PMCID:: PMC10697969

Abstract Article PDF–2.5M

Select item 99870633.

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

Keiko Akahoshi, Eiji Nakagawa, Yu-ichi Goto, Ken Inoue

BMC Med Genomics. 2023; 16: 43. Published online 2023 Mar 6. doi: 10.1186/s12920-023-01465-3

PMCID:: PMC9987063

Abstract Article PDF–1.7M

Select item 84463024.

Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C

Hayden A. M. Hatch, Molly H. O’Neil, Robert W. Marion, Julie Secombe, Lisa H. Shulman

Am J Med Genet A. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Am J Med Genet A. 2021 Oct; 185(10): 2951–2958. Published online 2021 Jun 4. doi: 10.1002/ajmg.a.62381

PMCID:: PMC8446302

Abstract Article PDF–104K

Select item 83423325.

Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature

Matteo Monticelli, Raffaele De Marco, Diego Garbossa

Childs Nerv Syst. 2021; 37(8): 2713–2718. Published online 2021 Jan 25. doi: 10.1007/s00381-020-05035-1

PMCID:: PMC8342332

Abstract Article PDF–667K

Select item 82574786.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Víctor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Bjornsson, Lisa Bradley, Angela F. Brady, Elise Brischoux-Boucher, Han Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, Maria Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchese, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoit, Damien Lederer, Siddharth Banka

Genet Med. 2021; 23(7): 1202–1210. Published online 2021 Mar 5. doi: 10.1038/s41436-021-01119-8

PMCID:: PMC8257478

Abstract Article PDF–1.2M

Select item 78983197.

The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy

Alexandre N. Datta, Nadia Bahi‐Buisson, Thierry Bienvenu, Sarah E. Buerki, Fiona Gardiner, J. Helen Cross, Bénédicte Heron, Anna Kaminska, Christian M. Korff, Anne Lepine, Gaetan Lesca, Amy McTague, Heather C. Mefford, Cyrill Mignot, Matthieu Milh, Amélie Piton, Ronit M. Pressler, Susanne Ruf, Lynette G. Sadleir, Anne de Saint Martin, Koen Van Gassen, Nienke E. Verbeek, Dorothée Ville, Nathalie Villeneuve, Pia Zacher, Ingrid E. Scheffer, Johannes R. Lemke

Epilepsia. 2021 Feb; 62(2): 325–334. Published online 2021 Jan 7. doi: 10.1111/epi.16761

PMCID:: PMC7898319

Abstract Article PDF–1.0M

Select item 74802358.

Cell-Type-Specific Gene Inactivation and In Situ Restoration via Recombinase-Based Flipping of Targeted Genomic Region

Xue Liu, Liang Ma, Hongzhi Liu, Jingwen Gan, Yidan Xu, Tianrui Zhang, Peiyuan Mu, Jinyun Wu, Yun Shi, Yubin Zhang, Ling Gong, Miao He

J Neurosci. 2020 Sep 9; 40(37): 7169–7186. doi: 10.1523/JNEUROSCI.1044-20.2020

PMCID:: PMC7480235

Abstract Article PDF–6.9M

Select item 71717469.

A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS

Cuiping Zhao, Yiming Liu, Yihua Wang, Hongyan Li, Bin Zhang, Yaoxian Yue, Jianyuan Zhang

BMC Neurol. 2020; 20: 145. Published online 2020 Apr 20. doi: 10.1186/s12883-020-01726-z

PMCID:: PMC7171746

Abstract Article PDF–1.3M

Select item 685671710.

Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome

Hongwei Cheng, Chunyun Du, Yihong Zhang, Andrew F. James, Christopher E. Dempsey, Ana P. Abdala, Jules C. Hancox

J Mol Cell Cardiol. 2019 Oct; 135: 22–30. doi: 10.1016/j.yjmcc.2019.07.012

PMCID:: PMC6856717

Abstract Article

Select item 664261011.

Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene

Junjie Hong, Miao Xu, Rong Li, Yu-Shan Cheng, Jennifer Kouznetsova, Jeanette Beers, Chengyu Liu, Jizhong Zou, Wei Zheng

Stem Cell Res. Author manuscript; available in PMC 2019 Jul 20.

Published in final edited form as: Stem Cell Res. 2019 May; 37: 101451. Published online 2019 Apr 25. doi: 10.1016/j.scr.2019.101451

PMCID:: PMC6642610

Abstract Article PDF–446K

Select item 567800912.

Epigenetic Etiology of Intellectual Disability

Shigeki Iwase, Nathalie G. Bérubé, Zhaolan Zhou, Nael Nadif Kasri, Elena Battaglioli, Marilyn Scandaglia, Angel Barco

J Neurosci. 2017 Nov 8; 37(45): 10773–10782. doi: 10.1523/JNEUROSCI.1840-17.2017

PMCID:: PMC5678009

Abstract Article PDF–746K

Select item 508483213.

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

Chloé Saunier, Svein Isungset Støve, Bernt Popp, Bénédicte Gérard, Marina Blenski, Nicholas AhMew, Charlotte de Bie, Paula Goldenberg, Bertrand Isidor, Boris Keren, Bruno Leheup, Laetitia Lampert, Cyril Mignot, Kamer Tezcan, Grazia M.S. Mancini, Caroline Nava, Melissa Wasserstein, Ange‐Line Bruel, Julien Thevenon, Alice Masurel, Yannis Duffourd, Paul Kuentz, Frédéric Huet, Jean‐Baptiste Rivière, Marjon van Slegtenhorst, Laurence Faivre, Amélie Piton, André Reis, Thomas Arnesen, Christel Thauvin‐Robinet, Christiane Zweier

Hum Mutat. 2016 Aug; 37(8): 755–764. Published online 2016 May 4. doi: 10.1002/humu.23001

PMCID:: PMC5084832

Abstract Article PDF–670K

Select item 449398714.

MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution

Maria Carolina Viana, Albert Nobre Menezes, Miguel Angelo M. Moreira, Alcides Pissinatti, Héctor N. Seuánez

BMC Genet. 2015; 16: 77. Published online 2015 Jul 7. doi: 10.1186/s12863-015-0240-x

PMCID:: PMC4493987

Abstract Article PDF–2.0M

Select item 444605115.

Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage

Tomoko Andoh-Noda, Wado Akamatsu, Kunio Miyake, Takuya Matsumoto, Ryo Yamaguchi, Tsukasa Sanosaka, Yohei Okada, Tetsuro Kobayashi, Manabu Ohyama, Kinichi Nakashima, Hiroshi Kurosawa, Takeo Kubota, Hideyuki Okano

Mol Brain. 2015; 8: 31. Published online 2015 May 27. doi: 10.1186/s13041-015-0121-2

PMCID:: PMC4446051

Abstract Article PDF–3.6M

Select item 438061316.

MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells

Ugljesa Djuric, Aaron Y. L. Cheung, Wenbo Zhang, Rebecca S. Mok, Wesley Lai, Alina Piekna, Jason A. Hendry, P. Joel Ross, Peter Pasceri, Dae-Sung Kim, Michael W. Salter, James Ellis

Neurobiol Dis. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Neurobiol Dis. 2015 Apr; 76: 37–45. Published online 2015 Jan 30. doi: 10.1016/j.nbd.2015.01.001

PMCID:: PMC4380613

Abstract Article PDF–1.3M

Select item 399257617.

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations

Cíntia Barros Santos-Rebouças, Stefanie Belet, Luciana Guedes de Almeida, Márcia Gonçalves Ribeiro, Enrique Medina-Acosta, Paulo Roberto Valle Bahia, Antônio Francisco Alves da Silva, Flávia Lima dos Santos, Glenda Corrêa Borges de Lacerda, Márcia Mattos Gonçalves Pimentel, Guy Froyen

Eur J Hum Genet. 2014 May; 22(5): 644–651. Published online 2013 Oct 9. doi: 10.1038/ejhg.2013.216

PMCID:: PMC3992576

Abstract Article PDF–1.6M

Select item 318332818.

Long Term Survival in TARP Syndrome and Confirmation of RBM10 as the Disease Causing Gene

Karen W. Gripp, Elizabeth Hopkins, Jennifer J. Johnston, Caitlin Krause, William B. Dobyns, Leslie G. Biesecker

Am J Med Genet A. Author manuscript; available in PMC 2012 Oct 1.

Published in final edited form as: Am J Med Genet A. 2011 Oct; 155(10): 2516–2520. Published online 2011 Sep 9. doi: 10.1002/ajmg.a.34190

PMCID:: PMC3183328

Abstract Article PDF–796K

Select item 277065519.

ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice

Ali Entezam, Karen Usdin

Nucleic Acids Res. 2009 Oct; 37(19): 6371–6377. Published online 2009 Aug 26. doi: 10.1093/nar/gkp666

PMCID:: PMC2770655

Abstract Article PDF–1.2M

Select item 175714820.

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein

C. Cardoso, Y. Lutz, C. Mignon, E. Compe, D. Depetris, M. Mattei, M. Fontes, L. Colleaux

J Med Genet. 2000 Oct; 37(10): 746–751. doi: 10.1136/jmg.37.10.746

PMCID:: PMC1757148

Summary PDF–445K

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