Literature DB >> 1218237

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies.

J Herrmann, P D Pallister, W Tiddy, J M Opitz.   

Abstract

Entities:  

Mesh：

Year:  1975        PMID： 1218237

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  38 in total

1.  2011 William Allan Award introduction: John M. Opitz.

Authors:  Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2012-03-09       Impact factor: 11.025

2.  An unusual case of KBG syndrome with unique oral findings.

Authors:  Abdul Hafiz; Abdulla Mufeed; Mohamad Ismael; Mheboob Alam
Journal:  BMJ Case Rep       Date:  2015-07-17

Review 3.  Microorganisms in the Placenta: Links to Early-Life Inflammation and Neurodevelopment in Children.

Authors:  Martha Scott Tomlinson; Kun Lu; Jill R Stewart; Carmen J Marsit; T Michael O'Shea; Rebecca C Fry
Journal:  Clin Microbiol Rev       Date:  2019-05-01       Impact factor: 26.132

4.  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

5.  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

6.  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

7.  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

8.  Twins with KBG syndrome and autism.

Authors:  Mina Hah; Linda J Lotspeich; Jennifer M Phillips; Andrea D Torres; Sue C Cleveland; Joachim F Hallmayer
Journal:  J Autism Dev Disord       Date:  2009-07-14

9.  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

10.  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
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