PMC Articles for MedGen (Select 1684725) - PMC

Select item 110681101.

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S Zaki, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Jawaher Zeighami, Chad D Williamson, Emily Fleming, Dihong Zhou, Jennifer L Gannon, Isabelle Thiffault, Emmanuel Roze, Mohnish Suri, Giovanni Zifarelli, Peter Bauer, Henry Houlden, Mariasavina Severino, Shunmoogum A Patten, Emily Farrow, Juan S Bonifacino

Brain. 2024 May; 147(5): 1751–1767. Published online 2023 Dec 21. doi: 10.1093/brain/awad427

PMCID:: PMC11068110

Abstract Article PDF–2.0M

Select item 107155262.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Giorgia Carboni, Alka Seth, Roberta Zuntini, Emanuele Coccia, Guja Astrea, Anne-Marie Bisgaard, Ivan Ivanovski, Silvia Maitz, Elise Brischoux-Boucher, Melissa T Carter, Maria Lisa Dentici, Koenraad Devriendt, Melissa Bellini, Maria Cristina Digilio, Asif Doja, David A Dyment, Stense Farholt, Carlos R Ferreira, Lynne A Wolfe, William A Gahl, Maria Gnazzo, Himanshu Goel, Sabine Weller Grønborg, Trine Hammer, Lorenzo Iughetti, Tjitske Kleefstra, David A Koolen, Francesca Romana Lepri, Gabrielle Lemire, Pedro Louro, Gary McCullagh, Simona F Madeo, Annarita Milone, Roberta Milone, Jens Erik Klint Nielsen, Antonio Novelli, Charlotte W. Ockeloen, Rosario Pascarella, Tommaso Pippucci, Ivana Ricca, Stephen P Robertson, Sarah Sawyer, Marie Falkenberg Smeland, Sander Stegmann, Constanze T Stumpel, Amy Goel, Juliet M Taylor, Domenico Barbuti, Annarosa Soresina, Maria Francesca Bedeschi, Roberta Battini, Anna Cavalli, Carlo Fusco, Maria Iascone, Lionel Van Maldergem, Sunita Venkateswaran, Orsetta Zuffardi, Samantha Vergano, Livia Garavelli, Allan Bayat

J Med Genet. 2023 Dec; 60(12): 1224–1234. Published online 2023 Aug 16. doi: 10.1136/jmg-2023-109141

PMCID:: PMC10715526

Abstract Article PDF–2.8M

Select item 102451383.

Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish

Lorena Maili, Oscar E. Ruiz, Philip H. Kahan, Frankie Chiu, Stephen T. Larson, S. Shahrukh Hashmi, Jacqueline T. Hecht, George T. Eisenhoffer

Dis Model Mech. 2023 Jun 1; 16(6): dmm049868. Published online 2023 Jun 2. doi: 10.1242/dmm.049868

PMCID:: PMC10245138

Abstract Article

Select item 96063874.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

Quentin Thomas, Marialetizia Motta, Thierry Gautier, Maha S. Zaki, Andrea Ciolfi, Julien Paccaud, François Girodon, Odile Boespflug-Tanguy, Thomas Besnard, Jennifer Kerkhof, Haley McConkey, Aymeric Masson, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Eva Trochu, Virginie Vignard, Fatima El It, Lance H. Rodan, Mohammad Ayman Alkhateeb, Rami Abou Jamra, Laurence Duplomb, Emilie Tisserant, Yannis Duffourd, Ange-Line Bruel, Adam Jackson, Siddharth Banka, Meriel McEntagart, Anand Saggar, Joseph G. Gleeson, David Sievert, Hyunwoo Bae, Beom Hee Lee, Kisang Kwon, Go Hun Seo, Hane Lee, Anjum Saeed, Nadeem Anjum, Huma Cheema, Salem Alawbathani, Imran Khan, Jorge Pinto-Basto, Joyce Teoh, Jasmine Wong, Umar Bin Mohamad Sahari, Henry Houlden, Kristina Zhelcheska, Melanie Pannetier, Mona A. Awad, Marion Lesieur-Sebellin, Giulia Barcia, Jeanne Amiel, Julian Delanne, Christophe Philippe, Laurence Faivre, Sylvie Odent, Aida Bertoli-Avella, Christel Thauvin, Bekim Sadikovic, Bruno Reversade, Reza Maroofian, Jérôme Govin, Marco Tartaglia, Antonio Vitobello

Am J Hum Genet. 2022 Oct 6; 109(10): 1909–1922. Published online 2022 Aug 30. doi: 10.1016/j.ajhg.2022.08.008

PMCID:: PMC9606387

Abstract Article PDF–4.6M

Select item 95507625.

Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

Theresa Göbel, Lea Berninger, Andrea Schlump, Bernd Feige, Kimon Runge, Kathrin Nickel, Miriam A. Schiele, Ludger Tebartz van Elst, Alrun Hotz, Svenja Alter, Katharina Domschke, Andreas Tzschach, Dominique Endres

J Neural Transm (Vienna) 2022; 129(11): 1387–1391. Published online 2022 Oct 7. doi: 10.1007/s00702-022-02544-y

PMCID:: PMC9550762

Abstract Article PDF–826K

Select item 92712236.

Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4

Martine W Tremblay, Matthew V Green, Benjamin M Goldstein, Andrew I Aldridge, Jill A Rosenfeld, Haley Streff, Wendy D Tan, William Craigen, Nasim Bekheirnia, Saeed Al Tala, Anne E West, Yong-hui Jiang

Hum Mol Genet. 2022 May 1; 31(9): 1430–1442. Published online 2021 Nov 12. doi: 10.1093/hmg/ddab321

PMCID:: PMC9271223

Abstract Article PDF–1.8M

Select item 83059167.

Neurological Phenotype of Mowat-Wilson Syndrome

Duccio Maria Cordelli, Veronica Di Pisa, Anna Fetta, Livia Garavelli, Lucia Maltoni, Luca Soliani, Emilia Ricci

Genes (Basel) 2021 Jul; 12(7): 982. Published online 2021 Jun 27. doi: 10.3390/genes12070982

PMCID:: PMC8305916

Abstract Article PDF–1.6M

Select item 78985478.

Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy

Stephanie Efthymiou, Marina Dutra‐Clarke, Reza Maroofian, Rauan Kaiyrzhanov, Marcello Scala, Javeria Reza Alvi, Tipu Sultan, Marilena Christoforou, Thi Tuyet Mai Nguyen, Kshitij Mankad, Barbara Vona, Aboulfazl Rad, Pasquale Striano, Vincenzo Salpietro, Maria J. Guillen Sacoto, Maha S. Zaki, Joseph G. Gleeson, Philippe M. Campeau, Bianca E. Russell, Henry Houlden

Epilepsia. 2021 Feb; 62(2): e35–e41. Published online 2021 Jan 7. doi: 10.1111/epi.16801

PMCID:: PMC7898547

Abstract Article PDF–945K

Select item 63124779.

Expanding Clinical Phenotype in CACNA1C Related Disorders: From Neonatal Onset Severe Epileptic Encephalopathy to Late-onset Epilepsy

Xiuhua Bozarth, Jennifer N. Dines, Qian Cong, Ghayda M. Mirzaa, Kimberly Foss, J. Lawrence Merritt, II, Jenny Thies, Heather C. Mefford, Edward Novotny

Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 4.

Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2733–2739. Published online 2018 Dec 4. doi: 10.1002/ajmg.a.40657

PMCID:: PMC6312477

Abstract Article PDF–397K

Select item 580034610.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Maaike Vreeburg, Rob P W Rouhl, Servi J C Stevens, Alexander P A Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric Smeets, Connie T R M Stumpel, Levinus A Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E Chandler, Sofia Douzgou, Nicola S Cooper, Ene-Choo Tan, Roger Foo, Angeline H M Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene Ruhoy, Karen S Carvalho, James J Dowling, Dorit L Lev, Katalin Sterbova, Petra Lassuthova, Jana Neupauerová, Jeff L Waugh, Sotirios Keros, Jill Clayton-Smith, Sarah F Smithson, Han G Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E Clowes, Victoria Mok Siu, The DDD study, Paulo Selber, Richard J Leventer, Christoffer Nellaker, Dierk Niessing, David Hunt, Diana Baralle

J Med Genet. 2018 Feb; 55(2): 104–113. Published online 2017 Nov 2. doi: 10.1136/jmedgenet-2017-104946

PMCID:: PMC5800346

Abstract Article PDF–1.3M

Select item 522306011.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Hannah Sleven, Seth J. Welsh, Jing Yu, Mair E.A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horvath, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D. King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N. Nelson, Deciphering Developmental Disorders study, CAUSES study, Jonathan Williams, Penny Clouston, James Hagman, Andrea H. Németh

Am J Hum Genet. 2017 Jan 5; 100(1): 138–150. Published online 2016 Dec 23. doi: 10.1016/j.ajhg.2016.11.020

PMCID:: PMC5223060

Abstract Article PDF–1.3M

Select item 500595712.

7q11.23 Duplication Syndrome: Physical Characteristics and Natural History

Colleen A. Morris, Carolyn B. Mervis, Alex P. Paciorkowski, Omar Abdul-Rahman, Sarah L. Dugan, Alan F. Rope, Patricia Bader, Laura G. Hendon, Shelley L. Velleman, Bonita P. Klein-Tasman, Lucy R. Osborne

Am J Med Genet A. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Am J Med Genet A. 2015 Dec; 167A(12): 2916–2935. Published online 2015 Sep 3. doi: 10.1002/ajmg.a.37340

PMCID:: PMC5005957

Abstract Article PDF–819K

Select item 461346913.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julian A Martinez-Agosto, Natalia Gomez-Ospina, Natalie Gallant, Jonathan A Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka-Kowalnik, Michelle Fox, Joshua L Deignan, Eric Vilain, Emily Hendricks, Margaret Horton Harr, Sarah E Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H Zackai, Ian Krantz, A Micheil Innes, Stanley F Nelson, Wayne W Grody, Fabiola Quintero-Rivera

Eur J Hum Genet. 2015 Oct; 23(11): 1473–1481. Published online 2015 May 6. doi: 10.1038/ejhg.2015.71

PMCID:: PMC4613469

Abstract Article PDF–2.3M

Select item 412939914.

Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis

Joshua D. Smith, Anne V. Hing, Christine M. Clarke, Nathan M. Johnson, Francisco A. Perez, Sarah S. Park, Jeremy A. Horst, Brig Mecham, Lisa Maves, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael L. Cunningham

Am J Hum Genet. 2014 Aug 7; 95(2): 235–240. doi: 10.1016/j.ajhg.2014.07.008

PMCID:: PMC4129399

Abstract Article PDF–1.9M

Select item 372331415.

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Lionel Van Maldergem, Qingming Hou, Vera M. Kalscheuer, Marlène Rio, Martine Doco-Fenzy, Ana Medeira, Arjan P.M. de Brouwer, Christelle Cabrol, Stefan A. Haas, Pierre Cacciagli, Sébastien Moutton, Emilie Landais, Jacques Motte, Laurence Colleaux, Céline Bonnet, Laurent Villard, Juliette Dupont, Heng-Ye Man

Hum Mol Genet. 2013 Aug 15; 22(16): 3306–3314. Published online 2013 Apr 24. doi: 10.1093/hmg/ddt187

PMCID:: PMC3723314

Abstract Article PDF–955K

Select item 372200916.

Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report

Mariana Moscovich, Mark S LeDoux, Jianfeng Xiao, Garrett L Rampon, Satya R Vemula, Ramon L Rodriguez, Kelly D Foote, Michael S Okun

BMC Med Genet. 2013; 14: 70. Published online 2013 Jul 13. doi: 10.1186/1471-2350-14-70

PMCID:: PMC3722009

Abstract Article PDF–788K

Select item 327544517.

Chromosome 15q24 microdeletion syndrome

Pilar L Magoulas, Ayman W El-Hattab

Orphanet J Rare Dis. 2012; 7: 2. Published online 2012 Jan 4. doi: 10.1186/1750-1172-7-2

PMCID:: PMC3275445

Abstract Article PDF–570K

Select item 290790018.

c-myc and N-myc promote active stem cell metabolism and cycling as architects of the developing brain

Alice Wey, Paul S. Knoepfler

Oncotarget. 2010 Jun; 1(2): 120–130. Published online 2010 Jun 4. doi: 10.18632/oncotarget.116

PMCID:: PMC2907900

Abstract Article PDF–2.2M

Select item 273331319.

A Genetic Model for Understanding Higher Order Visual Processing: Functional Interactions of the Ventral Visual Stream in Williams Syndrome

Deepak Sarpal, Bradley R. Buchsbaum, Philip D. Kohn, J. Shane Kippenhan, Carolyn B. Mervis, Colleen A. Morris, Andreas Meyer-Lindenberg, Karen Faith Berman

Cereb Cortex. 2008 Oct; 18(10): 2402–2409. Published online 2008 Feb 27. doi: 10.1093/cercor/bhn004

PMCID:: PMC2733313

Abstract Article PDF–798K

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