Publications by authors named "Frenny Sheth"

62Publications

Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report.

BMC Med Genomics 2020 Sep 24;13(1):141. Epub 2020 Sep 24.

FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, 380015, India.

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http://dx.doi.org/10.1186/s12920-020-00796-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7517678PMC
September 2020

Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review.

BMC Pediatr 2019 03 8;19(1):73. Epub 2019 Mar 8.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.

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http://dx.doi.org/10.1186/s12887-019-1444-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407181PMC
March 2019

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.

BMC Med Genet 2018 07 4;19(1):109. Epub 2018 Jul 4.

Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, Gujarat, 380 015, India.

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http://dx.doi.org/10.1186/s12881-018-0632-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032535PMC
July 2018

A case of Raine syndrome presenting with facial dysmorphy and review of literature.

BMC Med Genet 2018 05 11;19(1):76. Epub 2018 May 11.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India.

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http://dx.doi.org/10.1186/s12881-018-0593-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5948820PMC
May 2018

Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis.

Int J Dermatol 2018 Apr 29;57(4):428-433. Epub 2018 Jan 29.

FRIGE's Institute of Human Genetics, FRIGE House, Ahmedabad, India.

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http://dx.doi.org/10.1111/ijd.13923DOI Listing
April 2018

Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15.

Mol Cytogenet 2017 25;10:38. Epub 2017 Oct 25.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380009 India.

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http://dx.doi.org/10.1186/s13039-017-0339-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657133PMC
October 2017

Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.

Am J Med Genet A 2017 Apr 9;173(4):1041-1046. Epub 2017 Feb 9.

FRIGE's Institute of Human Genetics, Ahmedabad, Gujarat, India.

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http://dx.doi.org/10.1002/ajmg.a.38089DOI Listing
April 2017

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.

BMC Med Genet 2017 Jan 17;18(1). Epub 2017 Jan 17.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380 015, India.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-017-0367-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240394PMC
January 2017

Characterization of two novel FANCG mutations in Indian Fanconi anemia patients.

Leuk Res 2017 02 29;53:50-56. Epub 2016 Nov 29.

Department of Cytogenetics, 13th Floor, National Institute of Immuno Haematology, KEM Hospital Campus, Parel, Mumbai - 400 012, Maharashtra, India. Electronic address:

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http://dx.doi.org/10.1016/j.leukres.2016.11.013DOI Listing
February 2017

Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience.

JIMD Rep 2017 8;35:47-52. Epub 2016 Dec 8.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380 015, India.

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http://dx.doi.org/10.1007/8904_2016_24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585095PMC
December 2016

GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.

BMC Pediatr 2016 07 11;16:88. Epub 2016 Jul 11.

Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India.

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http://dx.doi.org/10.1186/s12887-016-0626-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939586PMC
July 2016

Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.

Indian Pediatr 2015 Dec;52(12):1029-33

Department of Biochemical and Molecular Genetics, FRIGEs Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad; Department of Pediatric Neurology and Child Development Centre, KLES Prabhakar Kore Hospital, Belgaum, Karnataka; * Department of Medicine, Sheth VS Hospital, Ellisbridge, Ahmedabad; and Department of Genetics, Sahyadri Medical Genetics and Tissue Engineering facility (SMGTEF), Pune; India. Correspondence to: Dr Jayesh J Sheth, Department of Biochemical and Molecular Genetics, FRIGEs Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380 015, India.

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http://indianpediatrics.net/dec2015/1029.pdf
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http://dx.doi.org/10.1007/s13312-015-0768-xDOI Listing
December 2015

Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum.

Int J Dermatol 2015 Nov 30;54(11):e487-91. Epub 2015 Jul 30.

Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.

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http://dx.doi.org/10.1111/ijd.13022DOI Listing
November 2015

The association of dyslipidemia and obesity with glycated hemoglobin.

Clin Diabetes Endocrinol 2015 23;1. Epub 2015 Jun 23.

Unit of Endocrine and Metabolic Disorders, Kasturba Health Society, Medical Research Centre, Mumbai, 400056 India.

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http://dx.doi.org/10.1186/s40842-015-0004-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469195PMC
June 2015

Does vitamin D play a significant role in type 2 diabetes?

BMC Endocr Disord 2015 Feb 26;15. Epub 2015 Feb 26.

Unit of Endocrine and Metabolic Disorders, Kasturba Health Society, Medical Research Centre, Mumbai, 400056, India.

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http://bmcendocrdisord.biomedcentral.com/articles/10.1186/s1
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http://dx.doi.org/10.1186/s12902-015-0003-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357062PMC
February 2015

Prenatal screening of cytogenetic anomalies - a Western Indian experience.

BMC Pregnancy Childbirth 2015 Apr 12;15:90. Epub 2015 Apr 12.

FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Jodhpur Gam Road, 380015, Ahmedabad, India.

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http://dx.doi.org/10.1186/s12884-015-0519-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396805PMC
April 2015

Pure interstitial dup(6)(q22.31q22.31) - a case report.

Ital J Pediatr 2015 Jan 31;41. Epub 2015 Jan 31.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India.

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http://dx.doi.org/10.1186/s13052-015-0113-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347966PMC
January 2015

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.

Clin Med Insights Pediatr 2014 17;8:45-9. Epub 2014 Sep 17.

Foundation for Research in Genetics and Endocrinology's Institute of Human Genetics, FRIGE House, Ahmedabad, India.

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http://dx.doi.org/10.4137/CMPed.S18121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4179602PMC
October 2014

Expanding the spectrum of mutations in Indian patients with Tay-Sachs disease.

Mol Genet Metab Rep 2014 29;1:425-430. Epub 2014 Sep 29.

Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269140006
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http://dx.doi.org/10.1016/j.ymgmr.2014.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121347PMC
September 2014

Point of care testing for improving risk- benefit ratio of aspirin and warfarin.

Mol Cytogenet 2014 21;7(Suppl 1 Proceedings of the International Conference on Human):I54. Epub 2014 Jan 21.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1186/1755-8166-7-S1-I54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044298PMC
June 2014

Detection and Inheritance Pattern of Copy Number Variations (CNVs) in Children with Multiple Congenital Anomalies.

Authors:
Frenny Sheth

Mol Cytogenet 2014 21;7(Suppl 1 Proceedings of the International Conference on Human):I35. Epub 2014 Jan 21.

FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.

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http://molecularcytogenetics.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/1755-8166-7-S1-I35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043831PMC
June 2014

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

J Hum Genet 2014 Apr 13;59(4):223-8. Epub 2014 Feb 13.

Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, Ahmedabad, India.

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http://dx.doi.org/10.1038/jhg.2014.5DOI Listing
April 2014

Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study.

Indian J Hum Genet 2013 Oct;19(4):415-22

FRIGE's Institute of Human Genetics, Cytogenetic and Molecular Cytogenetic section, FRIGE House, Satellite, Ahmedabad, Gujarat, India.

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http://search.proquest.com/openview/a11c415b349093832822c62f
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http://www.ijhg.com/text.asp?2013/19/4/415/124369
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http://dx.doi.org/10.4103/0971-6866.124369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897136PMC
October 2013

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter.

Mol Cytogenet 2013 1;6:24. Epub 2013 Jul 1.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380 015, India.

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http://dx.doi.org/10.1186/1755-8166-6-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750467PMC
May 2014

Diagnostic dilemma in overlapping congenital syndromes.

Indian Pediatr 2013 Jan;50(1):157-8

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http://dx.doi.org/10.1007/s13312-013-0006-3DOI Listing
January 2013

Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome.

Case Rep Genet 2012 20;2012:153405. Epub 2012 Dec 20.

FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380 015, India.

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http://dx.doi.org/10.1155/2012/153405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539376PMC
January 2013

Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndrome.

Fetal Pediatr Pathol 2013 Jul 10;32(4):308-11. Epub 2013 Jan 10.

National Institute for Empowerment of Persons with Multiple Disabilities, Physical Medicine & Rehabilitation, ECR, Muttukadu, Kovalam Post, Chennai, India.

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http://dx.doi.org/10.3109/15513815.2012.754529DOI Listing
July 2013

Clinical and molecular characterization of patients with gross hypotonia and impaired lower motor neuron function.

Indian Pediatr 2013 Jun 5;50(6):591-3. Epub 2012 Nov 5.

FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, India.

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http://dx.doi.org/10.1007/s13312-013-0168-zDOI Listing
June 2013

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.

Case Rep Genet 2012 30;2012:428075. Epub 2012 Oct 30.

Department of Molecular and Biochemical Genetics, Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat 380 015, India.

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http://www.hindawi.com/journals/crig/2012/428075/
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http://dx.doi.org/10.1155/2012/428075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502793PMC
November 2012

Bloom syndrome: report of two cases in siblings.

Int J Dermatol 2013 Aug 24;52(8):990-2. Epub 2012 Sep 24.

Departments of Dermatology, Venereology and Leprosy, Government Medical College, Bhavnagar, Gujarat, India.

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http://doi.wiley.com/10.1111/j.1365-4632.2011.05385.x
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http://dx.doi.org/10.1111/j.1365-4632.2011.05385.xDOI Listing
August 2013

Characterization of sSMC by FISH and molecular techniques.

Eur J Med Genet 2011 May-Jun;54(3):247-55. Epub 2011 Mar 3.

Institute of Human Genetics, Foundation for Research In Genetics and Endocrinology, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad 380 015, India.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110001
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http://dx.doi.org/10.1016/j.ejmg.2011.01.011DOI Listing
September 2011

Supernumerary marker chromosome in a child with microcephaly and mental retardation.

Indian Pediatr 2010 Mar;47(3):277-9

Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Road, Satellite, Ahmedabad, India.

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http://dx.doi.org/10.1007/s13312-010-0038-xDOI Listing
March 2010

Comparative genomic hybridization array study and its utility in detection of constitutional and acquired anomalies.

Indian J Exp Biol 2009 Oct;47(10):779-91

Laboratory of Medical Genetics, Jeanne de Flandre Hospital CHRU de Lille, Lille Cedex, France.

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October 2009

Plasma chitotriosidase activity in children with lysosomal storage disorders.

Indian J Pediatr 2010 Feb;77(2):203-5

FRIGE's Institue of Human Genetics, Ahmedabad, India.

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http://dx.doi.org/10.1007/s12098-009-0249-0DOI Listing
February 2010

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility.

Fertil Steril 2009 Oct 21;92(4):1347-1350. Epub 2009 May 21.

Human Developmental Genetics, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2009.04.009DOI Listing
October 2009

Niemann-Pick type C disease.

Indian Pediatr 2008 Jun;45(6):505-7

Foundation for Research in Genetics and Endocrinology, Genetic Center, FRIGE House, Jodhpur Road, Satellite, Ahmedabad, Gujarat, India.

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June 2008

A three way complex translocation (4; 9; 22) in two patients with chronic myelocytic leukemia.

J Cancer Res Ther 2005 Apr-Jun;1(2):108-10

FRIGE (Foundation for Research in Genetics and Endocrinology) Genetic Centre, 20/1, Bima Nagar, Satellite, Ahmedabad-380 015, India.

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http://dx.doi.org/10.4103/0973-1482.16711DOI Listing
December 2007

Cytogenetic analysis of Down syndrome in Gujarat.

Indian Pediatr 2007 Oct;44(10):774-7

FRIGE House (Foundation for Research in Genetics and Endocrinology), Genetic Center, 15 Kapidwaj, Jodhpur Gam Road, Satellite, Ahmedabad 380 015, India.

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October 2007

Ring chromosome 9 in a dysmorphic child.

Indian J Pediatr 2007 May;74(5):507-8

FRIGE (Foundation for Research in Genetics and Endocrinology) Genetic Centre, 20/1, Bima Nagar, Satellite, Ahmedabad, India.

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http://dx.doi.org/10.1007/s12098-007-0090-2DOI Listing
May 2007

Ring chromosome 14 with epilepsy and development delay.

Indian Pediatr 2006 Aug;43(8):744-5

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August 2006

An imaging study of body composition including lipodeposition pattern in a patient of familial partial lipodystrophy (Dunnigan type).

J Assoc Physicians India 2005 Oct;53:897-900

Bharatiya Vidya Bhavan's SPA Research Centre, 13th N.S. Road, Juhu, Mumbai 400 049.

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http://www.japi.org/october2005/CR-897.pdf
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October 2005

Case of near triploidy with i(17)(q10) in blast crisis CML.

Cancer Genet Cytogenet 2006 Jan;164(2):177-8

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http://dx.doi.org/10.1016/j.cancergencyto.2005.07.022DOI Listing
January 2006

Lysosomal storage disorders.

Indian Pediatr 2004 Mar;41(3):260-5

FRIGE (Foundation for Research in Genetics and Endocrinology), Genetic Center, 20/1, Bima Nagar, Satellite, Ahmedabad 380 015, India.

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March 2004

Gene polymorphism and folate metabolism: a maternal risk factor for Down syndrome.

Indian Pediatr 2003 Feb;40(2):115-23

Foundation for Research in Genetics and Encocrinology (FRIGE), Genetics Center, Ahmedabad 380 015, India.

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February 2003

Prenatal diagnosis of tay-sachs b1 variant in a maharashtrian family.

Indian Pediatr 2002 Jul;39(7):704-6

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July 2002

Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.

Indian J Pediatr 2002 Jan;69(1):109-11

Foundation for Research in Genetics & Endocrinology (FRIGE), Genetics Centre, 20/1, Bimanagar, Satellite Road, Ahmedabad-380 015, India.

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http://dx.doi.org/10.1007/BF02723790DOI Listing
January 2002