PMC Links for Books (Select 4516864) - PMC

Select item 58033001.

ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway

Minhan Ka, Woo-Yang Kim

Neurobiol Dis. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Neurobiol Dis. 2018 Mar; 111: 138–152. Published online 2017 Dec 21. doi: 10.1016/j.nbd.2017.12.008

PMCID:: PMC5803300

Abstract Article PDF–1.4M

Select item 57719192.

The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

Victoria Hodgetts Morton, Elizabeth Quinlan‐Jones, Natasha Butts, Denise Williams, Sue Hamilton, Tamas Marton, Katie Morris

Clin Case Rep. 2018 Jan; 6(1): 189–191. Published online 2017 Dec 11. doi: 10.1002/ccr3.1285

PMCID:: PMC5771919

Abstract Article PDF–232K

Select item 57422273.

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study

Linde C. M. van Dongen, Ellen Wingbermühle, Wouter Oomens, Anja G. Bos-Roubos, Charlotte W. Ockeloen, Tjitske Kleefstra, Jos I. M. Egger

Front Behav Neurosci. 2017; 11: 248. Published online 2017 Dec 19. doi: 10.3389/fnbeh.2017.00248

PMCID:: PMC5742227

Abstract Article PDF–760K

Select item 55331984.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi

Eur J Hum Genet. 2017 Jun; 25(6): 694–701. Published online 2017 Apr 19. doi: 10.1038/ejhg.2017.49

PMCID:: PMC5533198

Abstract Article PDF–760K

Select item 54351015.

Clinical and genetic aspects of KBG syndrome

Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton‐Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Kathryn Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury‐Ecob, Fiona Stewart, Peter Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, DDD Study, Sarah Smithson

Am J Med Genet A. 2016 Nov; 170(11): 2835–2846. Published online 2016 Sep 26. doi: 10.1002/ajmg.a.37842

PMCID:: PMC5435101

Abstract Article PDF–1.3M

Select item 47713976.

Medical management of epileptic seizures: challenges and solutions

Anand K Sarma, Nabil Khandker, Lisa Kurczewski, Gretchen M Brophy

Neuropsychiatr Dis Treat. 2016; 12: 467–485. Published online 2016 Feb 24. doi: 10.2147/NDT.S80586

PMCID:: PMC4771397

Abstract Article PDF–504K

Select item 45447537.

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 45381998.

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G Kant, Elizabeth A Jones, Han G Brunner, Rosa LE van Loon, Eric EJ Smeets, Mieke M van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniene, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas JJ Maal, Celeste C van Heumen, Helger G Yntema, Carine EL Carels, Tjitske Kleefstra

Eur J Hum Genet. 2015 Sep; 23(9): 1176–1185. Published online 2014 Nov 26. doi: 10.1038/ejhg.2014.253

Correction in:: Eur J Hum Genet. 2015 Sep; 23(9): 1270.

PMCID:: PMC4538199

Abstract Article PDF–1.9M

Select item 43831999.

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

Milena Crippa, Daniela Rusconi, Chiara Castronovo, Ilaria Bestetti, Silvia Russo, Anna Cereda, Angelo Selicorni, Lidia Larizza, Palma Finelli

Mol Cytogenet. 2015; 8: 20. Published online 2015 Mar 26. doi: 10.1186/s13039-015-0126-7

PMCID:: PMC4383199

Abstract Article PDF–1.6M

Select item 415101010.

A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome

Ji-Hun Lim, Eul-Ju Seo, Yoo-Mi Kim, Hyun-Ju Cho, Jin-Ok Lee, Chong Kun Cheon, Han-Wook Yoo

Ann Lab Med. 2014 Sep; 34(5): 390–394. Published online 2014 Aug 21. doi: 10.3343/alm.2014.34.5.390

PMCID:: PMC4151010

Abstract Article PDF–976K

Select item 315515711.

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Asli Sirmaci, Michail Spiliopoulos, Francesco Brancati, Eric Powell, Duygu Duman, Alex Abrams, Guney Bademci, Emanuele Agolini, Shengru Guo, Berrin Konuk, Asli Kavaz, Susan Blanton, Maria Christina Digilio, Bruno Dallapiccola, Juan Young, Stephan Zuchner, Mustafa Tekin

Am J Hum Genet. 2011 Aug 12; 89(2): 289–294. doi: 10.1016/j.ajhg.2011.06.007

PMCID:: PMC3155157

Abstract Article PDF–703K

Select item 298726112.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Marjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, Erica Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema-Raddatz, Stephen W Scherer, Christian R Marshall, Lorraine Potocki, Hans van Bokhoven, Tjitske Kleefstra

Eur J Hum Genet. 2010 Apr; 18(4): 429–435. Published online 2009 Nov 18. doi: 10.1038/ejhg.2009.192

PMCID:: PMC2987261

Abstract Article PDF–428K

Select item 176400613.

KBG syndrome

Francesco Brancati, Anna Sarkozy, Bruno Dallapiccola

Orphanet J Rare Dis. 2006; 1: 50. Published online 2006 Dec 12. doi: 10.1186/1750-1172-1-50

PMCID:: PMC1764006

Abstract Article PDF–832K

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