Literature DB >> 21527850

ANKRD11 gene deletion in a 17-year-old male.

Erin L Youngs1, Jessica A Hellings, Merlin G Butler.   

Abstract

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Year:  2011        PMID： 21527850      PMCID： PMC5283804          DOI： 10.1097/MCD.0b013e328346f6ae

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  3 in total

1.  Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.

Authors:  Aihua Zhang; Percy Luk Yeung; Chia-Wei Li; Shih-Chieh Tsai; Gia Khanh Dinh; Xiaoyang Wu; Hui Li; J Don Chen
Journal:  J Biol Chem       Date:  2004-06-07       Impact factor: 5.157

2.  Structural variation of chromosomes in autism spectrum disorder.

Authors:  Christian R Marshall; Abdul Noor; John B Vincent; Anath C Lionel; Lars Feuk; Jennifer Skaug; Mary Shago; Rainald Moessner; Dalila Pinto; Yan Ren; Bhooma Thiruvahindrapduram; Andreas Fiebig; Stefan Schreiber; Jan Friedman; Cees E J Ketelaars; Yvonne J Vos; Can Ficicioglu; Susan Kirkpatrick; Rob Nicolson; Leon Sloman; Anne Summers; Clare A Gibbons; Ahmad Teebi; David Chitayat; Rosanna Weksberg; Ann Thompson; Cathy Vardy; Vicki Crosbie; Sandra Luscombe; Rebecca Baatjes; Lonnie Zwaigenbaum; Wendy Roberts; Bridget Fernandez; Peter Szatmari; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2008-01-17       Impact factor: 11.025

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

Authors:  Marjolein H Willemsen; Bridget A Fernandez; Carlos A Bacino; Erica Gerkes; Arjan P M de Brouwer; Rolph Pfundt; Birgit Sikkema-Raddatz; Stephen W Scherer; Christian R Marshall; Lorraine Potocki; Hans van Bokhoven; Tjitske Kleefstra
Journal:  Eur J Hum Genet       Date:  2009-11-18       Impact factor: 4.246
  3 in total
  12 in total

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

Authors:  Minhan Ka; Woo-Yang Kim
Journal:  Neurobiol Dis       Date:  2017-12-21       Impact factor: 5.996

2.  Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.

Authors:  S Spengler; B Oehl-Jaschkowitz; M Begemann; P Hennes; K Zerres; T Eggermann
Journal:  Mol Syndromol       Date:  2013-06-08

3.  Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Authors:  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
Journal:  Am J Hum Genet       Date:  2011-07-21       Impact factor: 11.025

4.  Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.

Authors:  Qiuyue Li; Chengjun Sun; Lin Yang; Wei Lu; Feihong Luo
Journal:  Transl Pediatr       Date:  2021-04

5.  Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Authors:  Milena Crippa; Daniela Rusconi; Chiara Castronovo; Ilaria Bestetti; Silvia Russo; Anna Cereda; Angelo Selicorni; Lidia Larizza; Palma Finelli
Journal:  Mol Cytogenet       Date:  2015-03-26       Impact factor: 2.009

6.  Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

Authors:  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
Journal:  Eur J Hum Genet       Date:  2014-11-26       Impact factor: 4.246

7.  A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.

Authors:  Ji-Hun Lim; Eul-Ju Seo; Yoo-Mi Kim; Hyun-Ju Cho; Jin-Ok Lee; Chong Kun Cheon; Han-Wook Yoo
Journal:  Ann Lab Med       Date:  2014-08-21       Impact factor: 3.464

8.  Whole exome sequencing in females with autism implicates novel and candidate genes.

Authors:  Merlin G Butler; Syed K Rafi; Waheeda Hossain; Dietrich A Stephan; Ann M Manzardo
Journal:  Int J Mol Sci       Date:  2015-01-07       Impact factor: 5.923

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

Authors:  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
Journal:  Eur J Hum Genet       Date:  2017-04-19       Impact factor: 4.246

10.  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
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