Literature DB >> 21654729

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.

Mala Isrie, Yvonne Hendriks, Nicole Gielissen, Erik A Sistermans, Marjolein H Willemsen, Hilde Peeters, Joris R Vermeesch, Tjitske Kleefstra, Hilde Van Esch.   

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Year:  2011        PMID： 21654729      PMCID： PMC3260937          DOI： 10.1038/ejhg.2011.105

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


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  5 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.  Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

Authors:  A C V Krepischi-Santos; D Rajan; I K Temple; V Shrubb; J A Crolla; S Huang; S Beal; P A Otto; N P Carter; A M Vianna-Morgante; C Rosenberg
Journal:  Cytogenet Genome Res       Date:  2009-07-14       Impact factor: 1.636

4.  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

5.  Identification of ANKRD11 as a p53 coactivator.

Authors:  Paul M Neilsen; Kelly M Cheney; Chia-Wei Li; J Don Chen; Jacqueline E Cawrse; Renée B Schulz; Jason A Powell; Raman Kumar; David F Callen
Journal:  J Cell Sci       Date:  2008-10-07       Impact factor: 5.285
  5 in total
  20 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.  Novel Mutations and Unreported Clinical Features in KBG Syndrome.

Authors:  Emanuela Scarano; Martina Tassone; Claudio Graziano; Dino Gibertoni; Federica Tamburrino; Annamaria Perri; Maria Gnazzo; Giulia Severi; Francesca Lepri; Laura Mazzanti
Journal:  Mol Syndromol       Date:  2019-01-15

3.  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

4.  Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Authors:  Katherina Walz; Devon Cohen; Paul M Neilsen; Joseph Foster; Francesco Brancati; Korcan Demir; Richard Fisher; Michelle Moffat; Nienke E Verbeek; Kathrine Bjørgo; Adriana Lo Castro; Paolo Curatolo; Giuseppe Novelli; Clemer Abad; Cao Lei; Lily Zhang; Oscar Diaz-Horta; Juan I Young; David F Callen; Mustafa Tekin
Journal:  Hum Genet       Date:  2014-11-21       Impact factor: 4.132

5.  Regions of variable DNA methylation in human placenta associated with newborn neurobehavior.

Authors:  Alison G Paquette; E Andres Houseman; Benjamin B Green; Corina Lesseur; David A Armstrong; Barry Lester; Carmen J Marsit
Journal:  Epigenetics       Date:  2016-07-01       Impact factor: 4.528

6.  Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.

Authors:  Seema R Lalani; Chad Shaw; Xueqing Wang; Ankita Patel; Lance W Patterson; Katarzyna Kolodziejska; Przemyslaw Szafranski; Zhishuo Ou; Qi Tian; Sung-Hae L Kang; Amina Jinnah; Sophia Ali; Aamir Malik; Patricia Hixson; Lorraine Potocki; James R Lupski; Pawel Stankiewicz; Carlos A Bacino; Brian Dawson; Arthur L Beaudet; Fatima M Boricha; Runako Whittaker; Chumei Li; Stephanie M Ware; Sau Wai Cheung; Daniel J Penny; John Lynn Jefferies; John W Belmont
Journal:  Eur J Hum Genet       Date:  2012-08-29       Impact factor: 4.246

7.  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

8.  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

9.  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

10.  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
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