Publications by authors named "Maya Mary Thomas"

16Publications

Utility of Chromosomal Microarray in Children with Unexplained Developmental Delay/Intellectual Disability.

Fetal Pediatr Pathol 2020 Jul 23:1-11. Epub 2020 Jul 23.

Department of Cytogenetics, Christian Medical College and Hospital, Vellore, India.

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http://dx.doi.org/10.1080/15513815.2020.1791292DOI Listing
July 2020

EEG lateralization and seizure outcome following peri-insular hemispherotomy for pediatric hemispheric epilepsy.

Childs Nerv Syst 2019 07 30;35(7):1189-1195. Epub 2019 Jan 30.

Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.

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http://link.springer.com/10.1007/s00381-019-04067-6
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http://dx.doi.org/10.1007/s00381-019-04067-6DOI Listing
July 2019

Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.

J Clin Neuromuscul Dis 2018 Sep;20(1):14-27

Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, India.

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http://Insights.ovid.com/crossref?an=00131402-201809000-0000
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http://dx.doi.org/10.1097/CND.0000000000000222DOI Listing
September 2018

A Validation of an Examination Protocol for Cerebral Visual Impairment Among Children in a Clinical Population in India.

J Clin Diagn Res 2016 Dec 1;10(12):NC01-NC04. Epub 2016 Dec 1.

Consultant Paediatric Ophthalmologist, Department of Ophthalmology, International Centre for Eye Health London School of Hygiene and Medicine , London, UK .

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http://dx.doi.org/10.7860/JCDR/2016/22222.8943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5296470PMC
December 2016

A tropical menace of co-infection of Japanese encephalitis and neurocysticercosis in two children.

J Pediatr Neurosci 2016 Apr-Jun;11(2):140-4

Department of Radiodiagnosis, Christian Medical College, Vellore, Tamil Nadu, India.

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http://dx.doi.org/10.4103/1817-1745.187644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4991158PMC
September 2016

Neuroregression as an initial manifestation in a toddler with acquired pernicious anaemia.

BMJ Case Rep 2015 Dec 17;2015. Epub 2015 Dec 17.

Department of Pediatrics, Christian Medical College, Vellore, Tamilnadu, India.

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http://dx.doi.org/10.1136/bcr-2015-213540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691932PMC
December 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Siblings with fucosidosis.

J Pediatr Neurosci 2014 May;9(2):156-8

Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.

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http://dx.doi.org/10.4103/1817-1745.139331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166842PMC
May 2014

Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies: A Novel Association.

J Child Neurol 2015 Jun 11;30(7):937-41. Epub 2014 Sep 11.

Section of Neurology, Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India

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http://dx.doi.org/10.1177/0883073814541470DOI Listing
June 2015

Magnetic resonance imaging findings in adult-form myotonic dystrophy type 1.

Singapore Med J 2012 Jul;53(7):e150-2

Department of Radiology, Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India.

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July 2012

Outcomes of disconnective surgery in intractable pediatric hemispheric and subhemispheric epilepsy.

Int J Pediatr 2012 9;2012:527891. Epub 2012 Feb 9.

Division of Neurosurgery, Department of Neurological Sciences, Christian Medical College, Vellore 632004, India.

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http://www.hindawi.com/journals/ijpedi/2012/527891/
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http://dx.doi.org/10.1155/2012/527891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3299362PMC
August 2012

Megalencephalic leukoencephalopathy with subcortical cysts in an adult.

Acta Neurol Belg 2009 Mar;109(1):53-4

Department of Radiology, Christian Medical College, Vellore, India.

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March 2009