Publications by authors named "Sujatha Jagadeesh"

31Publications

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 Jul 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

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http://dx.doi.org/10.1136/jmedgenet-2019-106425DOI Listing
July 2020

Down's Syndrome Screening in the First Trimester with Additional Serum Markers: Indian Parameters.

J Obstet Gynaecol India 2020 Feb 11;70(1):12-17. Epub 2019 Feb 11.

1Mediscan Systems & Fetal Care Research Foundation, 197 Dr Natesan Road, Mylapore, Chennai, 600004 India.

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http://dx.doi.org/10.1007/s13224-018-1198-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982611PMC
February 2020

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.

Am J Med Genet A 2020 01 31;182(1):183-188. Epub 2019 Oct 31.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.

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http://dx.doi.org/10.1002/ajmg.a.61388DOI Listing
January 2020

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.

Am J Med Genet A 2019 06 21;179(6):908-914. Epub 2019 Mar 21.

Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61119
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http://dx.doi.org/10.1002/ajmg.a.61119DOI Listing
June 2019

Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.

J Obstet Gynaecol Res 2019 Apr 10;45(4):830-840. Epub 2019 Jan 10.

Molecular Laboratory, PerkinElmer Health Sciences, Ticel BioPark- Phase II, Chennai, India.

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http://doi.wiley.com/10.1111/jog.13920
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http://dx.doi.org/10.1111/jog.13920DOI Listing
April 2019

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Clin Genet 2019 03 27;95(3):398-402. Epub 2018 Nov 27.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

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http://doi.wiley.com/10.1111/cge.13468
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http://dx.doi.org/10.1111/cge.13468DOI Listing
March 2019

A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV).

Neuroophthalmology 2019 Nov 22;43(5):310-312. Epub 2018 Aug 22.

Department of Clinical Genetics, Mediscan Systems, Chennai, India.

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http://dx.doi.org/10.1080/01658107.2018.1506937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6844510PMC
November 2019

Normative Data of Thyroid Gland Volume in South Indian Neonates and Infants.

Indian J Pediatr 2018 Dec 9;85(12):1045-1049. Epub 2018 Feb 9.

MediScan, No 197, Dr Natesan Road, Mylapore, Chennai, Tamil Nadu, 600004, India.

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http://dx.doi.org/10.1007/s12098-017-2528-5DOI Listing
December 2018

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Am J Med Genet A 2017 Mar 27;173(3):588-595. Epub 2017 Jan 27.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.38064DOI Listing
March 2017

Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases.

J Matern Fetal Neonatal Med 2017 May 10;30(9):1041-1044. Epub 2016 Aug 10.

e Department of Fetal Medicine , Mediscan Systems , Chennai , India.

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https://www.tandfonline.com/doi/full/10.1080/14767058.2016.1
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http://dx.doi.org/10.1080/14767058.2016.1199675DOI Listing
May 2017

Mutations in ARSB in MPS VI patients in India.

Mol Genet Metab Rep 2015 Sep 17;4:53-61. Epub 2015 Jul 17.

Centre for Human Genetics (CHG), Bangalore, India.

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http://dx.doi.org/10.1016/j.ymgmr.2015.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750586PMC
September 2015

Congenital Hypothyroidism: Recent Indian data.

Indian J Endocrinol Metab 2015 May-Jun;19(3):436-7

Department of Genetics, Mediscans and Fetal Care and Research Foundation, Chennai, Tamil Nadu, India.

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http://dx.doi.org/10.4103/2230-8210.152800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366791PMC
May 2015

Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy.

Indian Pediatr 2013 Oct;50(10):965-6

Womens Center, Coimbatore; Mediscan systems, Chennai, India; and Division of Metabolism, University Childrens Hospital, Steinweiesstrasse, Switzerland. Correspondence to: Dr G Karthikeyan, GK Baby Clinic, 472, Muniappan Koil Street, Coimbatore 641 003, India.

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http://dx.doi.org/10.1007/s13312-013-0239-1DOI Listing
October 2013

Biotinidase deficiency: an atypical presentation.

Natl Med J India 2013 Jan-Feb;26(1):29-30

Mediscan Systems, 197 Dr Natesan Road, Mylapore, Chennai 600004, Tamil Nadu, India - Department of Genetics.

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January 2014

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Eur J Hum Genet 2014 Jul 21;22(7):888-95. Epub 2013 Aug 21.

1] Department of Pediatrics, Institute for Metabolic and Genetic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands [2] Hayward Genetics Center, Tulane University Medical Center, New Orleans, LA, USA.

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http://dx.doi.org/10.1038/ejhg.2013.154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060105PMC
July 2014

Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.

Paediatr Int Child Health 2013 May;33(2):113-5

Department of Genetics, Mediscan, Chennai, India.

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http://dx.doi.org/10.1179/2046905512Y.0000000028DOI Listing
May 2013

Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.

Indian Pediatr 2011 Jul;48(7):559-61

Center for Pediatrics and Adolescent Medicine and Faculty of Biology, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1007/s13312-011-0086-xDOI Listing
July 2011

Fanconi-Bickel syndrome.

Indian J Pediatr 2012 Jan 15;79(1):112-4. Epub 2011 Feb 15.

Department of Pediatrics, Medical College, Calicut, Kerala, India.

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http://dx.doi.org/10.1007/s12098-011-0373-5DOI Listing
January 2012

Prenatal diagnosis of restrictive dermopathy.

Indian Pediatr 2009 Apr;46(4):349-51

Department of Genetic Counseling, Mylapore, Chennai 600 004, India.

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April 2009

Perinatal outcome after multifetal pregnancy reduction.

Indian J Pediatr 2008 Sep 22;75(9):907-9. Epub 2008 Sep 22.

Fetal Care Research Foundation, 197, Dr. Natesan road, Mylapore, Chennai, 600 004, India.

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http://dx.doi.org/10.1007/s12098-008-0184-5DOI Listing
September 2008

Triple X syndrome with rare phenotypic presentation.

Indian J Pediatr 2008 Jun 31;75(6):629-31. Epub 2008 Aug 31.

Department of Genetics, A Unit of Mediscan Systems, 197, Dr Natesan Road, Mylapore, Chennai, India.

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http://dx.doi.org/10.1007/s12098-008-0120-8DOI Listing
June 2008

Retinoblastoma in India : microsatellite analysis and its application in genetic counseling.

Mol Diagn Ther 2007 ;11(1):63-70

SN ONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.

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http://dx.doi.org/10.1007/BF03256223DOI Listing
April 2007

Methodological issues in setting up a surveillance system for birth defects in India.

Natl Med J India 2005 Sep-Oct;18(5):259-62

Fetal Care Research Foundation, 203, Avvai Shanmugam Salai, Royapettah, Chennai 600014, Tamil Nadu.

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March 2006

Second trimester diagnosis of Neu Laxova syndrome.

Prenat Diagn 2003 Jan;23(1):21-4

Department of Clinical Genetics & Dysmorphology, Mediscan Prenatal Diagnosis & Fetal Therapy Centre, Royapettah, Chennai, India.

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http://dx.doi.org/10.1002/pd.485DOI Listing
January 2003