PMC Links for Books (Select 1949014) - PMC

Select item 101723351.

Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature

Miya St John, Olivia van Reyk, David A. Koolen, Bert B. A. de Vries, David J. Amor, Angela T. Morgan

Eur J Hum Genet. 2023 May; 31(5): 531–540. Published online 2022 Dec 19. doi: 10.1038/s41431-022-01230-7

PMCID:: PMC10172335

Abstract Article PDF–1.2M

Select item 92979282.

Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype

Marianna Farnè, Laura Bernardini, Anna Capalbo, Giusy Cavarretta, Barbara Torres, Mariabeatrice Sanchini, Sergio Fini, Alessandra Ferlini, Stefania Bigoni

Am J Med Genet A. 2022 Feb; 188(2): 692–707. Published online 2021 Oct 19. doi: 10.1002/ajmg.a.62536

PMCID:: PMC9297928

Abstract Article PDF–2.1M

Select item 89425533.

Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

Katrin Linda, Elly I. Lewerissa, Anouk H. A. Verboven, Michele Gabriele, Monica Frega, Teun M. Klein Gunnewiek, Lynn Devilee, Edda Ulferts, Marina Hommersom, Astrid Oudakker, Chantal Schoenmaker, Hans van Bokhoven, Dirk Schubert, Giuseppe Testa, David A. Koolen, Bert B.A. de Vries, Nael Nadif Kasri

Autophagy. 2022; 18(2): 423–442. Published online 2021 Jul 21. doi: 10.1080/15548627.2021.1936777

PMCID:: PMC8942553

Abstract Article PDF–4.2M

Select item 88544284.

Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice

Ting Li, Dingyi Lu, Chengcheng Yao, Tingting Li, Hua Dong, Zhan Li, Guang Xu, Jiayi Chen, Hao Zhang, Xiaoyu Yi, Haizhen Zhu, Guangqin Liu, Kaiqing Wen, Haixin Zhao, Jun Gao, Yakun Zhang, Qiuying Han, Teng Li, Weina Zhang, Jie Zhao, Tao Li, Zhaofang Bai, Moshi Song, Xinhua He, Tao Zhou, Qing Xia, Ailing Li, Xin Pan

Nat Commun. 2022; 13: 931. Published online 2022 Feb 17. doi: 10.1038/s41467-022-28613-0

Correction in:: Nat Commun. 2022; 13: 1575.

PMCID:: PMC8854428

Abstract Article PDF–4.3M

Select item 87565455.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

HGG Adv. 2022 Jan 13; 3(1): 100075. Published online 2021 Dec 3. doi: 10.1016/j.xhgg.2021.100075

PMCID:: PMC8756545

Abstract Article PDF–4.3M

Select item 81739956.

Koolen-de Vries Syndrome: Preliminary Observations of Topiramate Efficacy

Piccinelli Paolo, Ferri Matteo, Lipari Rossella, Mercuri Anna, Casalone Rosario, Granata Paola, Termine Cristiano, Rossi Giorgio

Child Neurol Open. 2021 Jan-Dec; 8: 2329048X211019183. Published online 2021 Jun 1. doi: 10.1177/2329048X211019183

PMCID:: PMC8173995

Abstract Article PDF–394K

Select item 67037357.

Neuronal Stimulation Induces Autophagy in Hippocampal Neurons That Is Involved in AMPA Receptor Degradation after Chemical Long-Term Depression

Mohammad Shehata, Hiroyuki Matsumura, Reiko Okubo-Suzuki, Noriaki Ohkawa, Kaoru Inokuchi

J Neurosci. 2012 Jul 25; 32(30): 10413–10422. doi: 10.1523/JNEUROSCI.4533-11.2012

PMCID:: PMC6703735

Abstract Article PDF–2.1M

Select item 64946378.

Interventions for childhood apraxia of speech

Angela T Morgan, Elizabeth Murray, Frederique J Liégeois, Cochrane Developmental, Psychosocial and Learning Problems Group

Cochrane Database Syst Rev. 2018; 2018(5): CD006278. Published online 2018 May 30. doi: 10.1002/14651858.CD006278.pub3

PMCID:: PMC6494637

Abstract Article PDF–606K

Select item 58390379.

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia

Angela T. Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei, Tiong Yang Tan, David Amor, Simon E. Fisher, David A. Koolen

Eur J Hum Genet. 2018 Jan; 26(1): 75–84. Published online 2017 Dec 11. doi: 10.1038/s41431-017-0035-9

PMCID:: PMC5839037

Abstract Article PDF–367K

Select item 553161610.

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition

Thomas Arbogast, Giovanni Iacono, Claire Chevalier, Nurudeen O. Afinowi, Xander Houbaert, Matthijs C. van Eede, Christine Laliberte, Marie-Christine Birling, Katrin Linda, Hamid Meziane, Mohammed Selloum, Tania Sorg, Nael Nadif Kasri, David A. Koolen, Henk G. Stunnenberg, R. Mark Henkelman, Maksym Kopanitsa, Yann Humeau, Bert B. A. De Vries, Yann Herault

PLoS Genet. 2017 Jul; 13(7): e1006886. Published online 2017 Jul 13. doi: 10.1371/journal.pgen.1006886

PMCID:: PMC5531616

Abstract Article PDF–7.4M

Select item 493008611.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E Veenstra-Knol, Jessie H Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah Dugan, Sara Halbach, Omar A Abdul-Rahman, Heather M Winesett, Wendy K Chung, Marguerite Dalton, Petia S Dimova, Teresa Mattina, Katrina Prescott, Hui Z Zhang, Howard M Saal, Jayne Y Hehir-Kwa, Marjolein H Willemsen, Charlotte W Ockeloen, Marjolijn C Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S Brooks, Sarina G Kant, Erica H Gerkes, Helen V Firth, Katrin Õunap, Lynne M Bird, Diane Masser-Frye, Jennifer R Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, DDD Study, Mary K Kukolich, Julie McGaughran, Bradley P Coe, Jesús Flórez, Nael Nadif Kasri, Han G Brunner, Elizabeth M Thompson, Jozef Gecz, Corrado Romano, Evan E Eichler, Bert BA de Vries

Eur J Hum Genet. 2016 May; 24(5): 652–659. Published online 2015 Aug 26. doi: 10.1038/ejhg.2015.178

PMCID:: PMC4930086

Abstract Article PDF–2.0M

Select item 459320212.

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

María Moreno-Igoa, Blanca Hernández-Charro, Amaya Bengoa-Alonso, Aranzazu Pérez-Juana-del-Casal, Carlos Romero-Ibarra, Beatriz Nieva-Echebarria, María Antonia Ramos-Arroyo

BMC Med Genet. 2015; 16: 68. Published online 2015 Aug 22. doi: 10.1186/s12881-015-0211-0

PMCID:: PMC4593202

Abstract Article PDF–1.1M

Select item 454475313.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 400610314.

The histone H4 lysine 16 acetyltransferase hMOF regulates the outcome of autophagy

Jens Füllgrabe, Melinda A. Lynch-Day, Nina Heldring, Wenbo Li, Robert B. Struijk, Qi Ma, Ola Hermanson, Michael G. Rosenfeld, Daniel J. Klionsky, Bertrand Joseph

Nature. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Nature. 2013 Aug 22; 500(7463): 468–471. Published online 2013 Jul 17. doi: 10.1038/nature12313

Correction in:: Nature. 2017 Mar 15

PMCID:: PMC4006103

Abstract Article PDF–1.0M

Select item 337626615.

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

David A Koolen, Juliette Dupont, Nicole de Leeuw, Lisenka ELM Vissers, Simone PA van den Heuvel, Alyson Bradbury, James Steer, Arjan PM de Brouwer, Leo P ten Kate, Willy M Nillesen, Bert BA de Vries, Michael J Parker

Eur J Hum Genet. 2012 Jul; 20(7): 729–733. Published online 2012 Feb 1. doi: 10.1038/ejhg.2012.1

PMCID:: PMC3376266

Abstract Article PDF–392K

Select item 332223716.

Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing

Andy Itsara, Lisenka E.L.M. Vissers, Karyn Meltz Steinberg, Kevin J. Meyer, Michael C. Zody, David A. Koolen, Joep de Ligt, Edwin Cuppen, Carl Baker, Choli Lee, Tina A. Graves, Richard K. Wilson, Robert B. Jenkins, Joris A. Veltman, Evan E. Eichler

Am J Hum Genet. 2012 Apr 6; 90(4): 599–613. doi: 10.1016/j.ajhg.2012.02.013

PMCID:: PMC3322237

Abstract Article PDF–894K

Select item 317121517.

A Copy Number Variation Morbidity Map of Developmental Delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig, Hoda Abdel-Hamid, Patricia Bader, Elizabeth McCracken, Dmitriy Niyazov, Kathleen Leppig, Heidi Thiese, Marybeth Hummel, Nora Alexander, Jerome Gorski, Jennifer Kussmann, Vandana Shashi, Krys Johnson, Catherine Rehder, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler

Nat Genet. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Nat Genet. 2011 Sep; 43(9): 838–846. Published online 2011 Aug 14. doi: 10.1038/ng.909

Correction in:: volume 46 on page 1040

PMCID:: PMC3171215

Abstract Article PDF–1.0M

Select item 307157018.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

D A Koolen, A J Sharp, J A Hurst, H V Firth, S J L Knight, A Goldenberg, P Saugier-Veber, R Pfundt, L E L M Vissers, A Destrée, B Grisart, L Rooms, N Van der Aa, M Field, A Hackett, K Bell, M J M Nowaczyk, G M S Mancini, P J Poddighe, C E Schwartz, E Rossi, M De Gregori, L L Antonacci-Fulton, M D McLellan, II, J M Garrett, M A Wiechert, T L Miner, S Crosby, R Ciccone, L Willatt, A Rauch, M Zenker, S Aradhya, M A Manning, T M Strom, J Wagenstaller, A C Krepischi-Santos, A M Vianna-Morgante, C Rosenberg, S M Price, H Stewart, C Shaw-Smith, H G Brunner, A O M Wilkie, J A Veltman, O Zuffardi, E E Eichler, B B A de Vries

J Med Genet. Author manuscript; available in PMC 2011 Apr 6.

Published in final edited form as: J Med Genet. 2008 Nov; 45(11): 710–720. Published online 2008 Jul 15. doi: 10.1136/jmg.2008.058701

Correction in:: J Med Genet, volume 46 on page 576

PMCID:: PMC3071570

Abstract Article PDF–1.7M

Select item 300039319.

Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome

Emma Burkitt Wright, Dian Donnai, Diana Johnson, Jill Clayton-Smith

Clin Dysmorphol. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: Clin Dysmorphol. 2011 Jan; 20(1): 15–20. doi: 10.1097/MCD.0b013e32833e8f1e

PMCID:: PMC3000393

Abstract Article PDF–512K

Select item 268479420.

Evolutionary Toggling of the MAPT 17q21.31 Inversion Region

Michael C. Zody, Zhaoshi Jiang, Hon-Chung Fung, Francesca Antonacci, LaDeana W. Hillier, Maria Francesca Cardone, Tina A. Graves, Jeffrey M. Kidd, Ze Cheng, Amr Abouelleil, Lin Chen, John Wallis, Jarret Glasscock, Richard K. Wilson, Amy Denise Reily, Jaime Duckworth, Mario Ventura, John Hardy, Wesley C. Warren, Evan E. Eichler

Nat Genet. Author manuscript; available in PMC 2009 May 20.

Published in final edited form as: Nat Genet. 2008 Sep; 40(9): 1076–1083. doi: 10.1038/ng.193

PMCID:: PMC2684794

Abstract Article PDF–3.4M

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