Literature DB >> 26269249

Further delineation of the KBG syndrome caused by ANKRD11 aberrations.

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

Abstract

Entities:  

Year:  2015        PMID: 26269249      PMCID: PMC4538192          DOI: 10.1038/ejhg.2015.130

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


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Correction to: European Journal of Human Genetics advance online publication, 26 November 2014; doi:10.1038/ejhg.2014.253 Since the publication of this article, the authors have noted that the coordinates and size of the microdeletion in patient 13 were not mentioned correctly throughout the article. This issue has now been rectified and the corrected article appears in this issue. The HTML and online PDF versions have also been rectified. The authors would like to apologise for their oversight.
  6 in total

1.  Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Authors:  Anna Kutkowska-Kaźmierczak; Maria Boczar; Ewa Kalka; Jennifer Castañeda; Jakub Klapecki; Aleksandra Pietrzyk; Artur Barczyk; Olga Malinowska; Aleksandra Landowska; Tomasz Gambin; Katarzyna Kowalczyk; Barbara Wiśniowiecka-Kowalnik; Marta Smyk; Mateusz Dawidziuk; Katarzyna Niepokój; Magdalena Paczkowska; Paweł Szyld; Beata Lipska-Ziętkiewicz; Krzysztof Szczałuba; Ewa Kostyk; Agata Runge; Karolina Rutkowska; Rafał Płoski; Beata Nowakowska; Jerzy Bal; Ewa Obersztyn; Monika Gos
Journal:  Genes (Basel)       Date:  2021-08-17       Impact factor: 4.096

2.  KBG syndrome involving a single-nucleotide duplication in ANKRD11.

Authors:  Robert Kleyner; Janet Malcolmson; David Tegay; Kenneth Ward; Annette Maughan; Glenn Maughan; Lesa Nelson; Kai Wang; Reid Robison; Gholson J Lyon
Journal:  Cold Spring Harb Mol Case Stud       Date:  2016-11

3.  Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome.

Authors:  Paolo Alfieri; Francesco Demaria; Serena Licchelli; Ornella Santonastaso; Cristina Caciolo; Maria Cristina Digilio; Lorenzo Sinibaldi; Chiara Leoni; Maria Gnazzo; Marco Tartaglia; Patrizio Pasqualetti; Stefano Vicari
Journal:  Brain Sci       Date:  2019-11-07

4.  Obsessive Compulsive "Paper Handling": A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome.

Authors:  Francesco Demaria; Paolo Alfieri; Maria Cristina Digilio; Maria Pontillo; Cristina Di Vincenzo; Federica Alice Maria Montanaro; Valentina Ciullo; Giuseppe Zampino; Stefano Vicari
Journal:  J Clin Med       Date:  2022-08-11       Impact factor: 4.964

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

Authors:  Victoria Hodgetts Morton; Elizabeth Quinlan-Jones; Natasha Butts; Denise Williams; Sue Hamilton; Tamas Marton; Katie Morris
Journal:  Clin Case Rep       Date:  2017-12-11

6.  Clinical and genetic aspects of KBG syndrome.

Authors:  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; Sarah Smithson
Journal:  Am J Med Genet A       Date:  2016-09-26       Impact factor: 2.802

  6 in total

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