Literature DB >> 16835933

Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia.

Jason Neal1, Kira Apse, Mustafa Sahin, Christopher A Walsh, Volney L Sheen.   

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Year:  2006        PMID： 16835933     DOI： 10.1002/ajmg.a.31334

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


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  8 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.  Malformations of cortical development and epilepsy.

Authors:  A James Barkovich; William B Dobyns; Renzo Guerrini
Journal:  Cold Spring Harb Perspect Med       Date:  2015-05-01       Impact factor: 6.915

3.  A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

Authors:  Valerio Conti; Aurelie Carabalona; Emilie Pallesi-Pocachard; Richard J Leventer; Fabienne Schaller; Elena Parrini; Agathe A Deparis; Françoise Watrin; Emmanuelle Buhler; Francesca Novara; Stefano Lise; Alistair T Pagnamenta; Usha Kini; Jenny C Taylor; Orsetta Zuffardi; Alfonso Represa; David Antony Keays; Renzo Guerrini; Antonio Falace; Carlos Cardoso
Journal:  J Vis Exp       Date:  2017-12-01       Impact factor: 1.355

4.  Bilateral subependymal heterotopia, ventriculomegaly and cerebellar asymmetry: fetal MRI findings of a rare association of brain anomalies.

Authors:  Lucia Manganaro; Matteo Saldari; Silvia Bernardo; Camilla Aliberti; Evelina Silvestri
Journal:  J Radiol Case Rep       Date:  2013-11-01

Review 5.  A developmental and genetic classification for malformations of cortical development: update 2012.

Authors:  A James Barkovich; Renzo Guerrini; Ruben I Kuzniecky; Graeme D Jackson; William B Dobyns
Journal:  Brain       Date:  2012-03-16       Impact factor: 13.501

6.  Neuropathology of brain and spinal malformations in a case of monosomy 1p36.

Authors:  Naoko Shiba; Ray A M Daza; Lisa G Shaffer; A James Barkovich; William B Dobyns; Robert F Hevner
Journal:  Acta Neuropathol Commun       Date:  2013-08-02       Impact factor: 7.801

Review 7.  Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and Disease.

Authors:  Volney L Sheen
Journal:  Scientifica (Cairo)       Date:  2012-10-22

8.  Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.

Authors:  Emiy Yokoyama; Camilo E Villarroel; Sinhué Diaz; Victoria Del Castillo; Patricia Pérez-Vera; Consuelo Salas; Samuel Gómez; Reneé Barreda; Bertha Molina; Sara Frias
Journal:  Mol Cytogenet       Date:  2020-09-07       Impact factor: 2.009
  8 in total

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