Literature DB >> 20635401

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

Giuseppe Limongelli1, Silvia Russo, Maria Cristina Digilio, Maura Masciadri, Giuseppe Pacileo, Fiorella Fratta, Francesca Martone, Valeria Maddaloni, Raffaella D'Alessandro, Paolo Calabro, Maria Giovanna Russo, Raffaele Calabro, Lidia Larizza.   

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Year:  2010        PMID： 20635401     DOI： 10.1002/ajmg.a.33486

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


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  6 in total

1.  Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Authors:  Nathalie Fieremans; Hilde Van Esch; Maureen Holvoet; Gert Van Goethem; Koenraad Devriendt; Monica Rosello; Sonia Mayo; Francisco Martinez; Shalini Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Joris R Vermeesch; Peter Marynen; Guy Froyen
Journal:  Hum Mutat       Date:  2016-05-25       Impact factor: 4.878

2.  Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.

Authors:  Ilaria Parenti; Davide Rovina; Maura Masciadri; Anna Cereda; Jacopo Azzollini; Chiara Picinelli; Giuseppe Limongelli; Palma Finelli; Angelo Selicorni; Silvia Russo; Cristina Gervasini; Lidia Larizza
Journal:  Epigenetics       Date:  2014-04-22       Impact factor: 4.528

3.  Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Authors:  Ching Moey; Susan J Hinze; Louise Brueton; Jenny Morton; Dominic J McMullan; Benjamin Kamien; Christopher P Barnett; Nicola Brunetti-Pierri; Jillian Nicholl; Jozef Gecz; Cheryl Shoubridge
Journal:  Eur J Hum Genet       Date:  2015-06-10       Impact factor: 4.246

Review 4.  Genetic diagnosis of subfertility: the impact of meiosis and maternal effects.

Authors:  Alexander Gheldof; Deborah J G Mackay; Ying Cheong; Willem Verpoest
Journal:  J Med Genet       Date:  2019-02-06       Impact factor: 6.318

5.  Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.

Authors:  Silvana Pileggi; Marta La Vecchia; Elisa Adele Colombo; Laura Fontana; Patrizia Colapietro; Davide Rovina; Annamaria Morotti; Silvia Tabano; Giovanni Porta; Myriam Alcalay; Cristina Gervasini; Monica Miozzo; Silvia Maria Sirchia
Journal:  Biomolecules       Date:  2021-11-02

Review 6.  Implications of Dosage Deficiencies in CTCF and Cohesin on Genome Organization, Gene Expression, and Human Neurodevelopment.

Authors:  Christopher T Cummings; M Jordan Rowley
Journal:  Genes (Basel)       Date:  2022-03-25       Impact factor: 4.141
  6 in total

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