Literature DB >> 14684696

Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.

E P Leeflang, S E Marsh, E Parrini, F Moro, D Pilz, W B Dobyns, R Guerrini, J W Wheless, J G Gleeson.   

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Year:  2003        PMID: 14684696      PMCID: PMC1735351          DOI: 10.1136/jmg.40.12.e128

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  6 in total

1.  Periventricular heterotopia in common microdeletion syndromes.

Authors:  M van Kogelenberg; S Ghedia; G McGillivray; D Bruno; R Leventer; K Macdermot; J Nelson; L Nagarajan; J A Veltman; A P de Brouwer; R J McKinlay Gardner; H van Bokhoven; E P Kirk; S P Robertson
Journal:  Mol Syndromol       Date:  2010-01-08

Review 2.  Genetics of the polymicrogyria syndromes.

Authors:  A Jansen; E Andermann
Journal:  J Med Genet       Date:  2005-05       Impact factor: 6.318

3.  Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

Authors:  P Gómez-Garre; M Seijo; E Gutiérrez-Delicado; M Castro del Río; C de la Torre; C Gómez-Abad; J Morales-Corraliza; M Puig; J M Serratosa
Journal:  J Med Genet       Date:  2005-07-01       Impact factor: 6.318

Review 4.  Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.

Authors:  Danielle M Andrade
Journal:  Hum Genet       Date:  2009-06-18       Impact factor: 4.132

5.  The epilepsy phenome/genome project.

Authors:  Bassel Abou-Khalil; Brian Alldredge; Jocelyn Bautista; Sam Berkovic; Judith Bluvstein; Alex Boro; Gregory Cascino; Damian Consalvo; Sabrina Cristofaro; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael Epstein; Robyn Fahlstrom; Miguel Fiol; Nathan Fountain; Kristen Fox; Jacqueline French; Catharine Freyer Karn; Daniel Friedman; Eric Geller; Tracy Glauser; Simon Glynn; Kevin Haas; Sheryl Haut; Jean Hayward; Sandra Helmers; Sucheta Joshi; Andres Kanner; Heidi Kirsch; Robert Knowlton; Eric Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel Lowenstein; Shannon McGuire; Paul Motika; Gerard Nesbitt; Edward Novotny; Ruth Ottman; Juliann Paolicchi; Jack Parent; Kristen Park; Annapurna Poduri; Neil Risch; Lynette Sadleir; Ingrid Scheffer; Renee Shellhaas; Elliott Sherr; Jerry J Shih; Shlomo Shinnar; Rani Singh; Joseph Sirven; Michael Smith; Joe Sullivan; Liu Lin Thio; Anu Venkat; Eileen Vining; Gretchen von Allmen; Judith Weisenberg; Peter Widdess-Walsh; Melodie Winawer
Journal:  Clin Trials       Date:  2013-07-01       Impact factor: 2.486

6.  The Genetic Landscape of Polymicrogyria.

Authors:  Jesmy James; Mary Iype; Mithran Omana Surendran; Ayyappan Anitha; Sanjeev V Thomas
Journal:  Ann Indian Acad Neurol       Date:  2022-05-05       Impact factor: 1.714

  6 in total

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