PMC Articles for MedGen (Select 462761) - PMC

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Select item 68871131.

Minimal residual disease undetectable by next-generation sequencing predicts improved outcome in CLL after chemoimmunotherapy

Philip A. Thompson, Jaya Srivastava, Christine Peterson, Paolo Strati, Jeffrey L. Jorgensen, Tyler Hether, Michael J. Keating, Susan M. O’Brien, Alessandra Ferrajoli, Jan A. Burger, Zeev Estrov, Nitin Jain, William G. Wierda

Blood. 2019 Nov 28; 134(22): 1951–1959. Prepublished online 2019 Sep 19. doi: 10.1182/blood.2019001077

PMCID:: PMC6887113

Abstract Article

Select item 36856022.

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

Inga Freunscht, Bernt Popp, Rainer Blank, Sabine Endele, Ute Moog, Holger Petri, Eva-Christina Prott, Andre Reis, Jochen Rübo, Bernhard Zabel, Martin Zenker, Johannes Hebebrand, Dagmar Wieczorek

Behav Brain Funct. 2013; 9: 20. Published online 2013 May 29. doi: 10.1186/1744-9081-9-20

PMCID:: PMC3685602

Abstract Article PDF–2.3M

Select item 101132513.

Transcriptomic profiles and 5-year results from the randomized CLL14 study of venetoclax plus obinutuzumab versus chlorambucil plus obinutuzumab in chronic lymphocytic leukemia

Othman Al-Sawaf, Can Zhang, Hyun Yong Jin, Sandra Robrecht, Yoonha Choi, Sandhya Balasubramanian, Alex Kotak, Yi Meng Chang, Anna Maria Fink, Eugen Tausch, Christof Schneider, Matthias Ritgen, Karl-Anton Kreuzer, Brenda Chyla, Joseph N. Paulson, Christian P. Pallasch, Lukas P. Frenzel, Martin Peifer, Barbara Eichhorst, Stephan Stilgenbauer, Yanwen Jiang, Michael Hallek, Kirsten Fischer

Nat Commun. 2023; 14: 2147. Published online 2023 Apr 18. doi: 10.1038/s41467-023-37648-w

Correction in:: Nat Commun. 2023; 14: 6724.

PMCID:: PMC10113251

Abstract Article PDF–2.8M

Select item 110840014.

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, Jr., M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium

J Neurodev Disord. 2024; 16: 25. Published online 2024 May 10. doi: 10.1186/s11689-024-09541-0

PMCID:: PMC11084001

Abstract Article PDF–1.1M

Select item 110833485.

Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome

Sarah Poliquin, Gerald Nwosu, Karishma Randhave, Wangzhen Shen, Carson Flamm, Jing-Qiong Kang

Int J Mol Sci. 2024 May; 25(9): 4601. Published online 2024 Apr 23. doi: 10.3390/ijms25094601

PMCID:: PMC11083348

Abstract Article PDF–7.0M

Select item 110811536.

Mitochondrial Dysfunction of Astrocytes Mediates Lipid Accumulation in Temporal Lobe Epilepsy

Yang Su, Meng Tang, Minjin Wang

Aging Dis. 2024 May 7; 15(3): 1289–1295. Published online 2024 May 7. doi: 10.14336/AD.2023.0624

PMCID:: PMC11081153

Abstract Article PDF–311K

Select item 110799637.

The Intellectual Disability Risk Gene Kdm5b Regulates Long-Term Memory Consolidation in the Hippocampus

Leticia Pérez-Sisqués, Shail U. Bhatt, Rugile Matuleviciute, Talia E. Gileadi, Eniko Kramar, Andrew Graham, Franklin G. Garcia, Ashley Keiser, Dina P. Matheos, James A. Cain, Alan M. Pittman, Laura C. Andreae, Cathy Fernandes, Marcelo A. Wood, K. Peter Giese, M. Albert Basson

J Neurosci. 2024 May 8; 44(19): e1544232024. Prepublished online 2024 Apr 4. doi: 10.1523/JNEUROSCI.1544-23.2024

PMCID:: PMC11079963

Abstract Article PDF–3.4M

Select item 110752298.

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

Shaoping Zhong, Jianying Liu, Yangye Lian, Binbin Zhou, Xin Wang, Jing Ding

BMC Neurol. 2024; 24: 154. Published online 2024 May 7. doi: 10.1186/s12883-024-03641-z

PMCID:: PMC11075229

Abstract Article PDF–3.1M

Select item 110684989.

Quantitative measures of motor development in Angelman syndrome

Jessica Duis, Austin Skinner, Robert Carson, Arnaud Gouelle, Melanie Annoussamy, Jill L. Silverman, Susan Apkon, Laurent Servais, James Carollo

Am J Med Genet A. Author manuscript; available in PMC 2024 May 4.

Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1711–1721. Published online 2023 Apr 5. doi: 10.1002/ajmg.a.63192

PMCID:: PMC11068498

Abstract Article PDF–864K

Select item 1106835710.

Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in Drosophila

Céline Petitgas, Laurent Seugnet, Amina Dulac, Giorgio Matassi, Ali Mteyrek, Rebecca Fima, Marion Strehaiano, Joana Dagorret, Baya Chérif-Zahar, Sandrine Marie, Irène Ceballos-Picot, Serge Birman

eLife. 2024; 12: RP88510. Published online 2024 May 3. doi: 10.7554/eLife.88510

PMCID:: PMC11068357

Abstract Article PDF–3.0M

Select item 1106810611.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan

Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010

PMCID:: PMC11068106

Abstract Article PDF–1.0M

Select item 1106709712.

First parechovirus reported case in Saudi Arabia in hospitalized immunocompromised adult patient

Abdullah Alshammari, Jawaher Alotaibi, Reem Almaghrabi, Reema Bawazeer, Sahar Althawadi, Hamsa Tayeb

Virol J. 2024; 21: 102. Published online 2024 May 2. doi: 10.1186/s12985-024-02372-4

PMCID:: PMC11067097

Abstract Article PDF–2.0M

Select item 1106297213.

Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress

Anowarul Islam, Zeeshan Shaukat, Rashid Hussain, Michael G. Ricos, Leanne M. Dibbens, Stephen L. Gregory

J Mol Neurosci. 2024; 74(2): 50. Published online 2024 May 2. doi: 10.1007/s12031-024-02227-1

PMCID:: PMC11062972

Abstract Article PDF–998K

Select item 1106263914.

Updates on Sturge-Weber Syndrome

SangEun Yeom, Anne M. Comi

Stroke. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Stroke. 2022 Dec; 53(12): 3769–3779. Published online 2022 Oct 20. doi: 10.1161/STROKEAHA.122.038585

PMCID:: PMC11062639

Abstract Article PDF–615K

Select item 1106180315.

GM3 synthase deficiency increases brain glucose metabolism in mice

Sivakama S. Bharathi, Bob B. Zhang, Eli Paul, Yuxun Zhang, Alexandra V. Schmidt, Benjamin Fowler, Yijen Wu, Michael Tiemeyer, Kei-ichiro Inamori, Jin-ichi Inokuchi, Eric S. Goetzman

Mol Genet Metab. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Mol Genet Metab. 2022 Dec; 137(4): 342–348. Published online 2022 Oct 28. doi: 10.1016/j.ymgme.2022.10.006

PMCID:: PMC11061803

Abstract Article PDF–757K

Select item 1106117316.

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth

Frederike L. Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D. M. Pena, Theodosia A. Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche

Eur J Hum Genet. 2024 May; 32(5): 558–566. Published online 2024 Feb 19. doi: 10.1038/s41431-024-01563-5

PMCID:: PMC11061173

Abstract Article PDF–1.8M

Select item 1105071217.

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1

Nicole Y. Farhat, Derek Alexander, Kyli McKee, James Iben, Jorge L. Rodriguez-Gil, Christopher A. Wassif, Niamh X. Cawley, William E. Balch, Forbes D. Porter

Int J Mol Sci. 2024 Apr; 25(8): 4217. Published online 2024 Apr 11. doi: 10.3390/ijms25084217

PMCID:: PMC11050712

Abstract Article PDF–1.8M

Select item 1105059118.

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity

Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes, Erlane Marques Ribeiro, Amanda Oliveira, Têmis Maria Félix, Agnes Cristina Fett-Conte, Luciana Cardoso Bonadia, Gabriela Roldão Correia-Costa, Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira

Genes (Basel) 2024 Apr; 15(4): 518. Published online 2024 Apr 21. doi: 10.3390/genes15040518

PMCID:: PMC11050591

Abstract Article PDF–795K

Select item 1104964419.

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene

Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella

Genes (Basel) 2024 Apr; 15(4): 430. Published online 2024 Mar 29. doi: 10.3390/genes15040430

PMCID:: PMC11049644

Abstract Article PDF–732K

Select item 1104948120.

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review

Alessandro Orsini, Andrea Santangelo, Alessandra Carmignani, Anna Camporeale, Francesco Massart, Nina Tyutyusheva, Diego Giampietro Peroni, Thomas Foiadelli, Alessandro Ferretti, Benedetta Toschi, Silvia Romano, Alice Bonuccelli

Genes (Basel) 2024 Apr; 15(4): 436. Published online 2024 Mar 29. doi: 10.3390/genes15040436

PMCID:: PMC11049481

Abstract Article PDF–1.0M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 500

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity