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Select item 104499711.

Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency

Tess Levy, Thariana Pichardo, Hailey Silver, Bonnie Lerman, Jessica Zweifach, Danielle Halpern, Paige M. Siper, Alexander Kolevzon, Joseph D. Buxbaum

Hum Genet. 2023; 142(9): 1385–1394. Published online 2023 Jul 16. doi: 10.1007/s00439-023-02578-6

PMCID:: PMC10449971

Abstract Article PDF–1.4M

Select item 104116072.

Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders

Rebecca A MacPherson, Vijay Shankar, Robert R H Anholt, Trudy F C Mackay

Genetics. 2023 Aug; 224(4): iyad061. Published online 2023 Apr 10. doi: 10.1093/genetics/iyad061

PMCID:: PMC10411607

Abstract Article PDF–4.2M

Select item 104126113.

Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome

Olga Sysoeva, Vladimir Maximenko, Alexander Kuc, Victoria Voinova, Olga Martynova, Alexander Hramov

Sci Rep. 2023; 13: 12932. Published online 2023 Aug 9. doi: 10.1038/s41598-023-39398-7

PMCID:: PMC10412611

Abstract Article PDF–2.6M

Select item 104142104.

The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome

Jennifer G. Andrews, Maureen Kelly Galindo, Joshua B. Hack, Joseph C. Watkins, Gabrielle A. Conecker, Michael F. Hammer, The SCN8A Research Consortium

J Registry Manag. 2023 Spring; 50(1): 4–10. Published online 2023 Mar 1.

PMCID:: PMC10414210

Abstract Article PDF–399K

Select item 104153375.

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M Maas, Yves Lacassie, Soo-Hyun Kim, Woo-Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol-Hee Kim, Lawrence C. Layman, Hyung-Goo Kim

Sci Rep. 2023; 13: 12984. Published online 2023 Aug 10. doi: 10.1038/s41598-023-40037-4

PMCID:: PMC10415337

Abstract Article PDF–2.2M

Select item 104169836.

Early Administration of the Phytocannabinoid Cannabidivarin Prevents the Neurobehavioral Abnormalities Associated with the Fmr1-KO Mouse Model of Fragile X Syndrome

Marika Premoli, William Fyke, Luigi Bellocchio, Valerie Lemaire, Marie Wolley-Roberts, Bruno Bontempi, Susanna Pietropaolo

Cells. 2023 Aug; 12(15): 1927. Published online 2023 Jul 25. doi: 10.3390/cells12151927

PMCID:: PMC10416983

Abstract Article PDF–4.6M

Select item 104220627.

Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder

Francesca Cucinotta, Carla Lintas, Pasquale Tomaiuolo, Marco Baccarin, Chiara Picinelli, Paola Castronovo, Roberto Sacco, Ignazio Stefano Piras, Laura Turriziani, Arianna Ricciardello, Maria Luisa Scattoni, Antonio M. Persico

Mol Genet Genomic Med. 2023 Aug; 11(8): e2182. Published online 2023 Apr 25. doi: 10.1002/mgg3.2182

PMCID:: PMC10422062

Abstract Article PDF–1.8M

Select item 104235098.

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden

J Med Genet. 2023 Aug; 60(8): 791–796. Published online 2022 Dec 29. doi: 10.1136/jmg-2022-108566

PMCID:: PMC10423509

Abstract Article PDF–739K

Select item 104256879.

Identification of USP9X as a leukemia susceptibility gene

Saumya Dushyant Sisoudiya, Pamela Mishra, He Li, Jeremy M. Schraw, Michael E. Scheurer, Sejal Salvi, Harsha Doddapaneni, Donna Muzny, Danielle Mitchell, Olga Taylor, Aniko Sabo, Philip J. Lupo, Sharon E. Plon

Blood Adv. 2023 Aug 22; 7(16): 4563–4575. Published online 2023 Jun 10. doi: 10.1182/bloodadvances.2023009814

PMCID:: PMC10425687

Abstract Article PDF–1.3M

Select item 1043059710.

Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases

Pankaj Chaudhary, Jessica Proulx, In-Woo Park

Virus Res. 2023 Oct 2; 335: 199191. Published online 2023 Aug 4. doi: 10.1016/j.virusres.2023.199191

PMCID:: PMC10430597

Abstract Article PDF–4.4M

Select item 1043214411.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Manuela Morleo, Rossella Venditti, Evangelos Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A. High, Jiahai Shi, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Elena Putti, Luigi Ferrante, Viviana Cetrangolo, Annalaura Torella, Melissa A. Walker, Romano Tenconi, Maria Iascone, Davide Mei, Renzo Guerrini, Jasper van der Smagt, Hester Y. Kroes, Koen L.I. van Gassen, Muhammad Bilal, Muhammad Umair, Veronica Pingault, Tania Attie-Bitach, Jeannine Amiel, Resham Ejaz, Lance Rodan, Marcella Zollino, Pankaj B. Agrawal, Filippo Del Bene, Vincenzo Nigro, David A. Sweetser, Brunella Franco

Am J Hum Genet. 2023 Aug 3; 110(8): 1377–1393. Published online 2023 Jul 13. doi: 10.1016/j.ajhg.2023.06.012

PMCID:: PMC10432144

Abstract Article PDF–5.2M

Select item 1043214812.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V. Hunter, Amanda Gerard, Alexis Heidlebaugh, Thomas Challman, Rebecca C. Spillmann, Shalini N. Jhangiani, Zeynep Coban-Akdemir, Seema Lalani, Lingxiao Liu, Anya Revah-Politi, Alejandro Iglesias, Edwin Guzman, Evan Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K.G. Tan, Isabelle Thiffault, Tomi Pastinen, Kazim Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan-Petersen, Undiagnosed Diseases Network, Francisca Millan, Teresa Santiago-Sim, Julien Thevenon, Ange-Line Bruel, Christel Thauvin-Robinet, Denny Popp, Konrad Platzer, Pawel Gawlinski, Wojciech Wiszniewski, Dana Marafi, Davut Pehlivan, Jennifer E. Posey, Richard A. Gibbs, Valerie Gailus-Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě de Angelis, Sabine M. Hölter, Hoi-Hung Cheung, Shen Gu, James R. Lupski

Am J Hum Genet. 2023 Aug 3; 110(8): 1394–1413. Published online 2023 Jul 18. doi: 10.1016/j.ajhg.2023.06.013

PMCID:: PMC10432148

Abstract Article PDF–4.2M

Select item 1043576713.

Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels

Aoife Murray, Gillian Gough, Ana Cindrić, Frano Vučković, David Koschut, Vincenzo Borelli, Dražen J. Petrović, Ana Bekavac, Ante Plećaš, Valentina Hribljan, Reinhard Brunmeir, Julija Jurić, Maja Pučić-Baković, Anita Slana, Helena Deriš, Azra Frkatović, Jűrgen Groet, Niamh L. O’Brien, Hong Yu Chen, Yee Jie Yeap, Frederic Delom, Steven Havlicek, Luke Gammon, Sarah Hamburg, Carla Startin, Hana D’Souza, Dinko Mitrečić, Mijana Kero, Ljubica Odak, Božo Krušlin, Željka Krsnik, Ivica Kostović, Jia Nee Foo, Yuin-Han Loh, Norris Ray Dunn, Susana de la Luna, Tim Spector, Ingeborg Barišić, Michael S.C. Thomas, Andre Strydom, Claudio Franceschi, Gordan Lauc, Jasminka Krištić, Ivan Alić, Dean Nižetić

eBioMedicine. 2023 Aug; 94: 104692. Published online 2023 Jul 12. doi: 10.1016/j.ebiom.2023.104692

PMCID:: PMC10435767

Abstract Article PDF–4.3M

Select item 1044740014.

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente

J Med Genet. 2023 Sep; 60(9): 885–893. Published online 2023 Feb 14. doi: 10.1136/jmg-2022-108725

PMCID:: PMC10447400

Abstract Article PDF–3.8M

Select item 1044818215.

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy

Shruti Pande, Selinda Mascarenhas, Aishwarya Venkatraman, Vivekananda Bhat, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla

Am J Med Genet A. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Am J Med Genet A. 2023 Aug; 191(8): 2175–2180. Published online 2023 Jun 20. doi: 10.1002/ajmg.a.63330

PMCID:: PMC10448182

Abstract Article PDF–834K

Select item 1044996016.

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Alexandra Frohne, Martin Koenighofer, Hakan Cetin, Michael Nieratschker, David T. Liu, Franco Laccone, Juergen Neesen, Stefan F. Nemec, Ursula Schwarz-Nemec, Christian Schoefer, Karen B. Avraham, Klemens Frei, Katharina Grabmeier-Pfistershammer, Bernhard Kratzer, Klaus Schmetterer, Winfried F. Pickl, Thomas Parzefall

Hum Genet. 2023; 142(8): 1077–1089. Published online 2022 Nov 29. doi: 10.1007/s00439-022-02506-0

PMCID:: PMC10449960

Abstract Article PDF–4.6M

Select item 1041156517.

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

Sharayu V Jangam, Lauren C Briere, Kristy L Jay, Jonathan C Andrews, Melissa A Walker, Lance H Rodan, Frances A High, Undiagnosed Diseases Network, Shinya Yamamoto, David A Sweetser, Michael F Wangler

Genetics. 2023 Aug; 224(4): iyad110. Published online 2023 Jun 14. doi: 10.1093/genetics/iyad110

PMCID:: PMC10411565

Abstract Article PDF–1.2M

Select item 1045390418.

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

Cathelijne C. Linders, Agnies M. van Eeghen, Janneke R. Zinkstok, Marie-José van den Boogaard, Erik Boot

Genes (Basel) 2023 Aug; 14(8): 1514. Published online 2023 Jul 25. doi: 10.3390/genes14081514

PMCID:: PMC10453904

Abstract Article PDF–666K

Select item 1045404119.

Sarah Abi Raad, Vanda Yazbeck Karam, Eliane Chouery, Cybel Mehawej, Andre Megarbane

Genes (Basel) 2023 Aug; 14(8): 1546. Published online 2023 Jul 28. doi: 10.3390/genes14081546

PMCID:: PMC10454041

Abstract Article PDF–595K

Select item 1045407120.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett

Genes (Basel) 2023 Aug; 14(8): 1565. Published online 2023 Jul 31. doi: 10.3390/genes14081565

PMCID:: PMC10454071

Abstract Article PDF–3.1M

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