Literature DB >> 19876902

Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.

Nara Sobreira1, Michael F Walsh, Denise Batista, Tao Wang.   

Abstract

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Year:  2009        PMID: 19876902      PMCID: PMC5004776          DOI: 10.1002/ajmg.a.33079

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  7 in total

Review 1.  Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature.

Authors:  Valérie Malan; Jelena Martinovic; Damien Sanlaville; Stéphanie Caillat; Marie-Christine Perrier Waill; Marie-Laure Maurin Ganne; Julia Tantau; Tania Attie-Bitach; Michel Vekemans; Nicole Morichon-Delvallez
Journal:  Prenat Diagn       Date:  2006-03       Impact factor: 3.050

2.  Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Authors:  C Cardoso; A Boys; E Parrini; C Mignon-Ravix; J M McMahon; S Khantane; E Bertini; E Pallesi; C Missirian; O Zuffardi; F Novara; L Villard; S Giglio; B Chabrol; H R Slater; A Moncla; I E Scheffer; R Guerrini
Journal:  Neurology       Date:  2008-12-10       Impact factor: 9.910

3.  SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.

Authors:  Cheryl Y Gregory-Evans; Mariya Moosajee; Matthew D Hodges; Donna S Mackay; Laurence Game; Neil Vargesson; Agnès Bloch-Zupan; Franz Rüschendorf; Lourdes Santos-Pinto; Georges Wackens; Kevin Gregory-Evans
Journal:  Hum Mol Genet       Date:  2007-07-25       Impact factor: 6.150

4.  Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.

Authors:  Andreas Tzschach; Ines Krause-Plonka; Corinna Menzel; Vera Kalscheuer; Holger Toennies; Harry Scherthan; Andreas Knoblauch; Michael Radke; Hans-Hilger Ropers; Maria Hoeltzenbein
Journal:  Am J Med Genet A       Date:  2006-03-01       Impact factor: 2.802

5.  Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease.

Authors:  Marie Baekvad-Hansen; Zeynep Tümer; Alicia Delicado; Fikret Erdogan; Niels Tommerup; Lars A Larsen
Journal:  Am J Med Genet A       Date:  2006-03-01       Impact factor: 2.802

6.  Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

Authors:  Anne W Higgins; Fowzan S Alkuraya; Amy F Bosco; Kerry K Brown; Gail A P Bruns; Diana J Donovan; Robert Eisenman; Yanli Fan; Chantal G Farra; Heather L Ferguson; James F Gusella; David J Harris; Steven R Herrick; Chantal Kelly; Hyung-Goo Kim; Shotaro Kishikawa; Bruce R Korf; Shashikant Kulkarni; Eric Lally; Natalia T Leach; Emma Lemyre; Janine Lewis; Azra H Ligon; Weining Lu; Richard L Maas; Marcy E MacDonald; Steven D P Moore; Roxanna E Peters; Bradley J Quade; Fabiola Quintero-Rivera; Irfan Saadi; Yiping Shen; Jay Shendure; Robin E Williamson; Cynthia C Morton
Journal:  Am J Hum Genet       Date:  2008-03       Impact factor: 11.025

Review 7.  Otodental syndrome.

Authors:  Agnès Bloch-Zupan; Jane R Goodman
Journal:  Orphanet J Rare Dis       Date:  2006-03-21       Impact factor: 4.123

  7 in total
  3 in total

Review 1.  Emerging roles for MEF2 in brain development and mental disorders.

Authors:  Ahlem Assali; Adam J Harrington; Christopher W Cowan
Journal:  Curr Opin Neurobiol       Date:  2019-05-23       Impact factor: 6.627

2.  Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

Authors:  Ditte Demontis; Raymond K Walters; Joanna Martin; Manuel Mattheisen; Thomas D Als; Esben Agerbo; Gísli Baldursson; Rich Belliveau; Jonas Bybjerg-Grauholm; Marie Bækvad-Hansen; Felecia Cerrato; Kimberly Chambert; Claire Churchhouse; Ashley Dumont; Nicholas Eriksson; Michael Gandal; Jacqueline I Goldstein; Katrina L Grasby; Jakob Grove; Olafur O Gudmundsson; Christine S Hansen; Mads Engel Hauberg; Mads V Hollegaard; Daniel P Howrigan; Hailiang Huang; Julian B Maller; Alicia R Martin; Nicholas G Martin; Jennifer Moran; Jonatan Pallesen; Duncan S Palmer; Carsten Bøcker Pedersen; Marianne Giørtz Pedersen; Timothy Poterba; Jesper Buchhave Poulsen; Stephan Ripke; Elise B Robinson; F Kyle Satterstrom; Hreinn Stefansson; Christine Stevens; Patrick Turley; G Bragi Walters; Hyejung Won; Margaret J Wright; Ole A Andreassen; Philip Asherson; Christie L Burton; Dorret I Boomsma; Bru Cormand; Søren Dalsgaard; Barbara Franke; Joel Gelernter; Daniel Geschwind; Hakon Hakonarson; Jan Haavik; Henry R Kranzler; Jonna Kuntsi; Kate Langley; Klaus-Peter Lesch; Christel Middeldorp; Andreas Reif; Luis Augusto Rohde; Panos Roussos; Russell Schachar; Pamela Sklar; Edmund J S Sonuga-Barke; Patrick F Sullivan; Anita Thapar; Joyce Y Tung; Irwin D Waldman; Sarah E Medland; Kari Stefansson; Merete Nordentoft; David M Hougaard; Thomas Werge; Ole Mors; Preben Bo Mortensen; Mark J Daly; Stephen V Faraone; Anders D Børglum; Benjamin M Neale
Journal:  Nat Genet       Date:  2018-11-26       Impact factor: 38.330

3.  A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics.

Authors:  Eva D'haene; Reut Bar-Yaacov; Inbar Bariah; Lies Vantomme; Sien Van Loo; Francisco Avila Cobos; Karen Verboom; Reut Eshel; Rawan Alatawna; Björn Menten; Ramon Y Birnbaum; Sarah Vergult
Journal:  Hum Mol Genet       Date:  2019-03-01       Impact factor: 6.150

  3 in total

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