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Select item 102909811.

A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes

Lorenzo Badenetti, Rosa Manzoli, Marta Trevisan, Francesca D’Avanzo, Rosella Tomanin, Enrico Moro

Sci Rep. 2023; 13: 10289. Published online 2023 Jun 25. doi: 10.1038/s41598-023-37138-5

PMCID:: PMC10290981

Article PDF–2.6M

Select item 101130182.

Deregulation of ER-Mitochondria Contact Formation and Mitochondrial Calcium Homeostasis Mediated by VDAC in Fragile X Syndrome

Ji Geng, Tejinder Pal Khaket, Jie Pan, Wen Li, Yan Zhang, Yong Ping, Maria Inmaculada Cobos Sillero, Bingwei Lu

Dev Cell. Author manuscript; available in PMC 2024 Apr 10.

Published in final edited form as: Dev Cell. 2023 Apr 10; 58(7): 597–615.e10. doi: 10.1016/j.devcel.2023.03.002

PMCID:: PMC10113018

Article PDF–3.9M

Select item 100494973.

A Comprehensive and Integrative Approach to MeCP2 Disease Transcriptomics

Alexander J. Trostle, Lucian Li, Seon-Young Kim, Jiasheng Wang, Rami Al-Ouran, Hari Krishna Yalamanchili, Zhandong Liu, Ying-Wooi Wan

Int J Mol Sci. 2023 Mar; 24(6): 5122. Published online 2023 Mar 7. doi: 10.3390/ijms24065122

PMCID:: PMC10049497

Article PDF–12M

Select item 94762844.

Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale

Rosa Angela Fabio, Liliana Chiarini, Virginia Canegallo

Orphanet J Rare Dis. 2022; 17: 356. Published online 2022 Sep 14. doi: 10.1186/s13023-022-02519-y

PMCID:: PMC9476284

Article PDF–1.2M

Select item 93207845.

Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins

Huiying Jin, Haifeng Li, Shu Qiang

Medicina (Kaunas) 2022 Jul; 58(7): 958. Published online 2022 Jul 20. doi: 10.3390/medicina58070958

PMCID:: PMC9320784

Article PDF–2.1M

Select item 93014196.

Determination of IDH1, IDH2, MGMT, TERT and ATRX Gene Mutations in Glial Tumors

CUMHUR KAAN YALTIRIK, SEDA GULEC YILMAZ, SELCUK OZDOGAN, EZEL YALTIRIK BILGIN, ZERRIN BARUT, UGUR TURE, TURGAY ISBIR

In Vivo. 2022 Jul-Aug; 36(4): 1694–1702. Published online 2022 Jul 3. doi: 10.21873/invivo.12881

PMCID:: PMC9301419

Article PDF–484K

Select item 89490937.

Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report

Gunda Petraitytė, Violeta Mikštienė, Evelina Siavrienė, Loreta Cimbalistienė, Živilė Maldžienė, Tautvydas Rančelis, Evelina Marija Vaitėnienė, Laima Ambrozaitytė, Justas Dapkūnas, Ramūnas Dzindzalieta, Erinija Pranckevičienė, Vaidutis Kučinskas, Algirdas Utkus, Eglė Preikšaitienė

Medicina (Kaunas) 2022 Mar; 58(3): 351. Published online 2022 Feb 26. doi: 10.3390/medicina58030351

PMCID:: PMC8949093

Article PDF–1.3M

Select item 88522048.

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

Ferdy S van Geest, Stefan Groeneweg, Erica L T van den Akker, Iuliu Bacos, Diana Barca, Sjoerd A A van den Berg, Enrico Bertini, Doris Brunner, Nicola Brunetti-Pierri, Marco Cappa, Gerarda Cappuccio, Krishna Chatterjee, Alexander D Chesover, Peter Christian, Régis Coutant, Dana Craiu, Patricia Crock, Cheyenne Dewey, Alice Dica, Paul Dimitri, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi R Garibaldi, Belinda George, Annette Hackenberg, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Amy Lawson-Yuen, Michaela Linder-Lucht, Greta Lyons, Felipe Monti Lora, Carla Moran, Katalin E Müller, Laura Paone, Praveen G Paul, Michel Polak, Francesco Porta, Christina Reinauer, Yolanda B de Rijke, Rowen Seckold, Tuba Seven Menevşe, Peter Simm, Anna Simon, Marco Spada, Athanasia Stoupa, Lilla Szeifert, Davide Tonduti, Hans van Toor, Serap Turan, Joel Vanderniet, Monique de Waart, Ronald van der Wal, Adri van der Walt, Anne-Marie van Wermeskerken, Jolanta Wierzba, Federica Zibordi, Amnon Zung, Robin P Peeters, W Edward Visser

J Clin Endocrinol Metab. 2022 Mar; 107(3): e1136–e1147. Published online 2021 Oct 22. doi: 10.1210/clinem/dgab750

PMCID:: PMC8852204

Article

Select item 88011459.

Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy

Siwen Liu, Lin Li, Hairong Wu, Pei Pei, Xuefei Zheng, Hong Pan, Xinhua Bao, Yu Qi, Yinan Ma

Mol Genet Genomic Med. 2022 Jan; 10(1): e1844. Published online 2021 Nov 26. doi: 10.1002/mgg3.1844

PMCID:: PMC8801145

Article PDF–783K

Select item 868678310.

Raising Knowledge and Awareness of Fragile X Syndrome in Serbia, Georgia, and Colombia: A Model for Other Developing Countries?

Dragana Protic, Maria Jimena Salcedo-Arellano, Maja Stojkovic, Wilmar Saldarriaga, Laura Alejandra Ávila Vidal, Robert M. Miller, Nazi Tabatadze, Marina Peric, Randi Hagerman, Dejan B. Budimirovic

Yale J Biol Med. 2021 Dec; 94(4): 559–571. Published online 2021 Dec 29.

PMCID:: PMC8686783

Article PDF–932K

Select item 855805611.

Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency

Hideyuki Iwayama, Hiroki Kakita, Masumi Iwasa, Shinsuke Adachi, Kyoko Takano, Masahiro Kikuchi, Yasuko Fujisawa, Hitoshi Osaka, Yasumasa Yamada, Akihisa Okumura, Khemraj Hirani, Roy E. Weiss, Samuel Refetoff

Thyroid. September 2021; 31(9): 1316–1321. Published online 2021 Sep 7. doi: 10.1089/thy.2020.0696

PMCID:: PMC8558056

Article PDF–255K

Select item 825322412.

Prognostic Significance of Altered ATRX/DAXX Gene in Pancreatic Neuroendocrine Tumors: A Meta-Analysis

Fei Wang, Xiaowu Xu, Zeng Ye, Yi Qin, Xianjun Yu, Shunrong Ji

Front Endocrinol (Lausanne) 2021; 12: 691557. Published online 2021 Jun 18. doi: 10.3389/fendo.2021.691557

PMCID:: PMC8253224

Article PDF–1023K

Select item 811002513.

Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation

Samuel Refetoff, Theodora Pappa, Meredith K. Williams, M. Gisele Matheus, Xiao-Hui Liao, Karen Hansen, Lindsey Nicol, Melinda Pierce, Peter A. Blasco, Mandie Wiebers Jensen, Juan Bernal, Roy E. Weiss, Alexandra M. Dumitrescu, Stephen LaFranchi

Thyroid. May 2021; 31(5): 713–720. Published online 2021 May 3. doi: 10.1089/thy.2020.0306

PMCID:: PMC8110025

Article PDF–568K

Select item 707434114.

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

Karen Kengne Kamga, Séraphin Nguefack, Khuthala Minka, Edmond Wonkam Tingang, Alina Esterhuizen, Syntia Nchangwi Munung, Jantina De Vries, Ambroise Wonkam

Genes (Basel) 2020 Feb; 11(2): 136. Published online 2020 Jan 28. doi: 10.3390/genes11020136

PMCID:: PMC7074341

Article PDF–1.7M

Select item 667974115.

Functional Motor Control Deficits in Older FMR1 Premutation Carriers

Seoung Hoon Park, Zheng Wang, Walker McKinney, Pravin Khemani, Su Lui, Evangelos A. Christou, Matthew W. Mosconi

Exp Brain Res. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Exp Brain Res. 2019 Sep; 237(9): 2269–2278. Published online 2019 Jun 3. doi: 10.1007/s00221-019-05566-3

PMCID:: PMC6679741

Article PDF–447K

Select item 648541916.

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons

Sara Ricciardi, Federica Ungaro, Melanie Hambrock, Nils Rademacher, Gilda Stefanelli, Dario Brambilla, Alessandro Sessa, Cinzia Magagnotti, Angela Bachi, Elisa Giarda, Chiara Verpelli, Charlotte Kilstrup-Nielsen, Carlo Sala, Vera M. Kalscheuer, Vania Broccoli

Nat Cell Biol. Author manuscript; available in PMC 2019 Apr 26.

Published in final edited form as: Nat Cell Biol. 2012 Sep; 14(9): 911–923. Published online 2012 Aug 26. doi: 10.1038/ncb2566

PMCID:: PMC6485419

Article PDF–2.6M

Select item 572269917.

Enzymatic Testing Sensitivity, Variability and Practical Diagnostic Algorithm for Pyruvate Dehydrogenase Complex (PDC) Deficiency

Ha Kyung Shin, George Grahame, Shawn E. McCandless, Douglas S. Kerr, Jirair K. Bedoyan

Mol Genet Metab. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Mol Genet Metab. 2017 Nov; 122(3): 61–66. Published online 2017 Sep 8. doi: 10.1016/j.ymgme.2017.09.001

PMCID:: PMC5722699

Article PDF–671K

Select item 571460518.

Expanded carrier screening in gamete donors of Venezuela

Maria Teresa Urbina, Isaac Benjamin, Randolfo Medina, José Jiménez, Laura Trías, Jorge Lerner

JBRA Assist Reprod. 2017 Oct-Dec; 21(4): 356–360. doi: 10.5935/1518-0557.20170062

PMCID:: PMC5714605

Article PDF–198K

Select item 541409119.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, A P M de Brouwer, S Weinert, G Froyen, S G M Frints, F Laumonnier, T Zemojtel, M I Love, H Richard, A-K Emde, M Bienek, C Jensen, M Hambrock, U Fischer, C Langnick, M Feldkamp, W Wissink-Lindhout, N Lebrun, L Castelnau, J Rucci, R Montjean, O Dorseuil, P Billuart, T Stuhlmann, M Shaw, M A Corbett, A Gardner, S Willis-Owen, C Tan, K L Friend, S Belet, K E P van Roozendaal, M Jimenez-Pocquet, M-P Moizard, N Ronce, R Sun, S O'Keeffe, R Chenna, A van Bömmel, J Göke, A Hackett, M Field, L Christie, J Boyle, E Haan, J Nelson, G Turner, G Baynam, G Gillessen-Kaesbach, U Müller, D Steinberger, B Budny, M Badura-Stronka, A Latos-Bieleńska, L B Ousager, P Wieacker, G Rodríguez Criado, M-L Bondeson, G Annerén, A Dufke, M Cohen, L Van Maldergem, C Vincent-Delorme, B Echenne, B Simon-Bouy, T Kleefstra, M Willemsen, J-P Fryns, K Devriendt, R Ullmann, M Vingron, K Wrogemann, T F Wienker, A Tzschach, H van Bokhoven, J Gecz, T J Jentsch, W Chen, H-H Ropers, V M Kalscheuer

Mol Psychiatry. 2016 Jan; 21(1): 133–148. Published online 2015 Feb 3. doi: 10.1038/mp.2014.193

PMCID:: PMC5414091

Article PDF–1.0M

Select item 506484920.

17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report

Rohan K. Henry, Caroline Astbury, Constantine A. Stratakis, Scott E. Hickey

Eur J Med Genet. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Eur J Med Genet. 2016 Oct; 59(10): 512–516. Published online 2016 Sep 12. doi: 10.1016/j.ejmg.2016.09.006

PMCID:: PMC5064849

Article PDF–324K

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