Literature DB >> 18468009

Allan Award lecture: Rare patients leading to epigenetics and back to genetics.

Arthur L Beaudet1.   

Abstract

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Mesh：

Year:  2008        PMID： 18468009      PMCID： PMC2427262          DOI： 10.1016/j.ajhg.2008.04.009

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  13 in total

1.  Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

Authors:  R D Nicholls; J H Knoll; M G Butler; S Karam; M Lalande
Journal:  Nature       Date:  1989-11-16       Impact factor: 49.962

Review 2.  Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism.

Authors:  J A S Vorstman; W G Staal; E van Daalen; H van Engeland; P F R Hochstenbach; L Franke
Journal:  Mol Psychiatry       Date:  2006-01       Impact factor: 15.992

3.  Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

Authors:  E H Cook; V Lindgren; B L Leventhal; R Courchesne; A Lincoln; C Shulman; C Lord; E Courchesne
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

4.  Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.

Authors:  D H Ledbetter; V M Riccardi; S D Airhart; R J Strobel; B S Keenan; J D Crawford
Journal:  N Engl J Med       Date:  1981-02-05       Impact factor: 91.245

5.  De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

Authors:  T Matsuura; J S Sutcliffe; P Fang; R J Galjaard; Y H Jiang; C S Benton; J M Rommens; A L Beaudet
Journal:  Nat Genet       Date:  1997-01       Impact factor: 38.330

6.  UBE3A/E6-AP mutations cause Angelman syndrome.

Authors:  T Kishino; M Lalande; J Wagstaff
Journal:  Nat Genet       Date:  1997-01       Impact factor: 38.330

7.  Value of a clinical morphology examination in autism.

Authors:  J H Miles; R E Hillman
Journal:  Am J Med Genet       Date:  2000-04-10

8.  Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.

Authors:  M-L Jacquemont; D Sanlaville; R Redon; O Raoul; V Cormier-Daire; S Lyonnet; J Amiel; M Le Merrer; D Heron; M-C de Blois; M Prieur; M Vekemans; N P Carter; A Munnich; L Colleaux; A Philippe
Journal:  J Med Genet       Date:  2006-07-13       Impact factor: 6.318

9.  A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A.

Authors:  Yong-Hui Jiang; Trilochan Sahoo; Ron C Michaelis; Dani Bercovich; Jan Bressler; Catherine D Kashork; Qian Liu; Lisa G Shaffer; Richard J Schroer; David W Stockton; Richard S Spielman; Roger E Stevenson; Arthur L Beaudet
Journal:  Am J Med Genet A       Date:  2004-11-15       Impact factor: 2.802

10.  Strong association of de novo copy number mutations with autism.

Authors:  Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal:  Science       Date:  2007-03-15       Impact factor: 47.728
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  2 in total

Review 1.  The role of redox signaling in epigenetics and cardiovascular disease.

Authors:  Gene H Kim; John J Ryan; Stephen L Archer
Journal:  Antioxid Redox Signal       Date:  2013-03-12       Impact factor: 8.401

2.  Epigenetic mechanisms of pulmonary hypertension.

Authors:  Gene H Kim; John J Ryan; Glenn Marsboom; Stephen L Archer
Journal:  Pulm Circ       Date:  2011 Jul-Sep       Impact factor: 3.017
  2 in total

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