Literature DB >> 31793186

Approach to overgrowth syndromes in the genome era.

Deepika D Burkardt1, Katrina Tatton-Brown2,3,4, William Dobyns5, John M Graham6.   

Abstract

This introduction to the special issue of AJMG Part C: Overgrowth Syndromes updates the current understanding of overgrowth syndromes. We clarify the terminology associated with overgrowth, review some common pathways to overgrowth and present a preliminary classification based on currently known genomic and epigenetic mechanisms. We introduce the articles of this issue-new research and reviews of well-established and recently described overgrowth syndromes of the brain, body or both.
© 2019 Wiley Periodicals, Inc.

Entities:  

Keywords:  epigenetic regulation; macrocephaly; megalencephaly; overgrowth

Mesh：

Year:  2019        PMID： 31793186     DOI： 10.1002/ajmg.c.31757

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN： 1552-4868            Impact factor:   3.908


  4 in total

Review 1.  Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

Authors:  Filomena Pirozzi; Benson Lee; Nicole Horsley; Deepika D Burkardt; William B Dobyns; John M Graham; Maria L Dentici; Claudia Cesario; Jens Schallner; Joseph Porrmann; Nataliya Di Donato; Pedro A Sanchez-Lara; Ghayda M Mirzaa
Journal:  Am J Med Genet A       Date:  2021-06-04       Impact factor: 2.802

2.  Selective requirement for polycomb repressor complex 2 in the generation of specific hypothalamic neuronal subtypes.

Authors:  Behzad Yaghmaeian Salmani; Brad Balderson; Susanne Bauer; Helen Ekman; Annika Starkenberg; Thomas Perlmann; Michael Piper; Mikael Bodén; Stefan Thor
Journal:  Development       Date:  2022-03-04       Impact factor: 6.868

3.  Clinical and genetic analyses of patients with lateralized overgrowth.

Authors:  Yoon-Myung Kim; Yena Lee; Yunha Choi; In Hee Choi; Sun Hee Heo; Jung Min Choi; Hyo-Sang Do; Ja-Hyun Jang; Mi-Sun Yum; Han-Wook Yoo; Beom Hee Lee
Journal:  BMC Med Genomics       Date:  2022-09-30       Impact factor: 3.622

Review 4.  International consensus recommendations on the diagnostic work-up for malformations of cortical development.

Authors:  Renske Oegema; Tahsin Stefan Barakat; Martina Wilke; Katrien Stouffs; Dina Amrom; Eleonora Aronica; Nadia Bahi-Buisson; Valerio Conti; Andrew E Fry; Tobias Geis; David Gomez Andres; Elena Parrini; Ivana Pogledic; Edith Said; Doriette Soler; Luis M Valor; Maha S Zaki; Ghayda Mirzaa; William B Dobyns; Orly Reiner; Renzo Guerrini; Daniela T Pilz; Ute Hehr; Richard J Leventer; Anna C Jansen; Grazia M S Mancini; Nataliya Di Donato
Journal:  Nat Rev Neurol       Date:  2020-09-07       Impact factor: 42.937
  4 in total

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