PMC Articles for MedGen (Select 1824004) - PMC

Select item 107155261.

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

Article PDF–2.8M

Select item 105531222.

Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report

HaoZheng Zhang, Xuening Guo, Chun Yang, Kaihui Zhang, Dong Wang, Juan Wang, Yi Liu, Lili Kang, Qinghua Liu, Xiaoying Li

Medicine (Baltimore) 2023 Oct 6; 102(40): e35449. Published online 2023 Oct 6. doi: 10.1097/MD.0000000000035449

PMCID:: PMC10553122

Article PDF–1.4M

Select item 101171593.

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

Zain Awamleh, Sanaa Choufani, Cheryl Cytrynbaum, Fowzan S Alkuraya, Stephen Scherer, Sofia Fernandes, Catarina Rosas, Pedro Louro, Patricia Dias, Mariana Tomásio Neves, Sérgio B Sousa, Rosanna Weksberg

Hum Mol Genet. 2023 May 1; 32(9): 1429–1438. Published online 2022 Nov 28. doi: 10.1093/hmg/ddac289

PMCID:: PMC10117159

Article PDF–815K

Select item 95452744.

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3

Daniel Halperin, Nadav Agam, Maher Hallak, Miora Feinstein, Max Drabkin, Yuval Yogev, Ohad Wormser, Eitan Shavit, Libe Gradstein, Ilan Shelef, Aanalia Mijalovsky, Hagit Flusser, Ohad S. Birk

Clin Genet. 2022 Aug; 102(2): 123–129. Published online 2022 May 5. doi: 10.1111/cge.14143

PMCID:: PMC9545274

Article PDF–1.4M

Select item 93386575.

Natural history of Myhre syndrome

David Dawei Yang, Marlene Rio, Caroline Michot, Nathalie Boddaert, Wael Yacoub, Nicolas Garcelon, Briac Thierry, Damien Bonnet, Sophie Rondeau, Dominique Herve, Stephanie Guey, Francois Angoulvant, Valerie Cormier-Daire

Orphanet J Rare Dis. 2022; 17: 304. Published online 2022 Jul 30. doi: 10.1186/s13023-022-02447-x

PMCID:: PMC9338657

Article PDF–1.3M

Select item 84760766.

The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series

Kyle S Conway, Fozia Ghafoor, Amy C Gottschalk, Joseph Laakman, Renee L Eigsti, Marcus Nashelsky, John Blau, Marco M Hefti

J Neuropathol Exp Neurol. 2021 Sep; 80(9): 856–860. Published online 2021 Aug 7. doi: 10.1093/jnen/nlab072

PMCID:: PMC8476076

Article PDF–360K

Select item 78206327.

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

Pauline E. Schneeberger, Leonie von Elsner, Emma L. Barker, Peter Meinecke, Iris Marquardt, Malik Alawi, Katharina Steindl, Pascal Joset, Anita Rauch, Petra J.G. Zwijnenburg, Marjan M. Weiss, Catherine L.R. Merry, Kerstin Kutsche

Am J Hum Genet. 2020 Dec 3; 107(6): 1044–1061. Published online 2020 Nov 6. doi: 10.1016/j.ajhg.2020.10.007

PMCID:: PMC7820632

Article PDF–2.6M

Select item 76117308.

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová, Souphatta Sasorith, Florence Piron-Prunier, Fumi Suomi, David Zhang, Nuria Martinez-Lopez, Nicolas Leboucq, Angela Bahr, Silvia Azzarello-Burri, Selina Reich, Ludger Schöls, Tuomo M. Polvikoski, Pierre Meyer, Lise Larrieu, Andrew M. Schaefer, Hessa S. Alsaif, Suad Alyamani, Stephan Zuchner, Inês A. Barbosa, Charu Deshpande, Angela Pyle, Anita Rauch, Matthis Synofzik, Fowzan S. Alkuraya, François Rivier, Mina Ryten, Robert McFarland, Agnès Delahodde, Thomas G. McWilliams, Michel Koenig, Robert W. Taylor

N Engl J Med. Author manuscript; available in PMC 2021 Sep 27.

Published in final edited form as: N Engl J Med. 2021 Jun 24; 384(25): 2406–2417. doi: 10.1056/NEJMoa1915722

PMCID:: PMC7611730

Article PDF–2.7M

Select item 70278589.

CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

Shuji Mizumoto, Andreas R. Janecke, Azita Sadeghpour, Gundula Povysil, Marie T. McDonald, Sheila Unger, Susanne Greber‐Platzer, Kristen L. Deak, Nicholas Katsanis, Andrea Superti‐Furga, Kazuyuki Sugahara, Erica E. Davis, Shuhei Yamada, Julia Vodopiutz

Hum Mutat. 2020 Mar; 41(3): 655–667. Published online 2019 Dec 3. doi: 10.1002/humu.23952

PMCID:: PMC7027858

Article PDF–1.5M

Select item 639757310.

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK

Solmi Cheon, Kiran Kaur, Nadine Nijem, Islam Oguz Tuncay, Pooja Kumar, Milan Dean, Jane Juusola, Maria J. Guillen-Sacoto, Emma Bedoukian, Lynne Ierardi-Curto, Paige Kaplan, G. Bradley Schaefer, Prashant Mishra, Maria H. Chahrour

Proc Natl Acad Sci U S A. 2019 Feb 26; 116(9): 3662–3667. Published online 2019 Feb 11. doi: 10.1073/pnas.1818751116

PMCID:: PMC6397573

Article PDF–1012K

Select item 522303211.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Kezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, Courtney Kiss, Anna Lehman, Jill A. Rosenfeld, Constance T.R. Stumpel, Alexander P.A. Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert F. Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, Maria J. Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, DDD Study, CAUSES Study, Megan T. Cho, Thomas P. Potjer, Gijs W.E. Santen, Michael J. Parker, Natalie Canham, Margaret McKinnon, Lorraine Potocki, Jennifer J. MacKenzie, Elizabeth R. Roeder, Philippe M. Campeau, Xiang-Jiao Yang

Am J Hum Genet. 2017 Jan 5; 100(1): 91–104. Published online 2016 Dec 8. doi: 10.1016/j.ajhg.2016.11.011

PMCID:: PMC5223032

Article PDF–2.8M

Select item 476949912.

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

Stephanie M. Luco, Daniela Pohl, Erick Sell, Justin D. Wagner, David A. Dyment, Hussein Daoud

BMC Med Genet. 2016; 17: 15. Published online 2016 Feb 27. doi: 10.1186/s12881-016-0276-4

PMCID:: PMC4769499

Article PDF–1.3M

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

Article PDF–2.3M

Select item 327544514.

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

Article PDF–570K

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