CURRICULUM VITAE
Dr. J Sheth
Present Status
DIRECTOR
FRIGE’s Institute of Human Genetics
FRIGE House, Jodhpur Gam Rd
Satellite,
Ahmedabad-380 015
Gujarat, INDIA.
Visiting Professor Of Genetics,
Jiwaji University, Gwalior.
Member:
P.G.Teacher in Biochemistry for Ph.D.
:
Board of studies in Biochemistry, M.S. University
Board of studies in Biotechnology: Saurashtra University
Board of studies in science: Nirma University
Founder Member: Indin society of Fetal Medicine
Founder Member: Indian Society of Inborn error of metabolism
Ahmedabad university
:
M.S.University
Consultant Endocrinologist
Shah Pathology Laboratory and Endocrine Unit
Medicare Centre
Ellisbridge, Ahmedabad-380 006. Gujarat, INDIA.
Scientific Advisor
Jivraj Mehta Hospital & Bakeri Medical Research Foundation,
Ahmedabad-380 015. INDIA
CIMS Hospital, Ahmedabad
Genzyme India Ltd
Current Research Project


Multicentric Collaborative study of the Clinical, Biochemical and Molecular Characterization of Lysosomal
Storage Disorders in India (ICMR Task Force study): TF/LSD/1/2010-BMS
Effect of genetic variants in PPARG2 and ADRB3 gene in type II diabetic subjects of Gujarat in relation to
drug response, GICT/16312
Research Projects completed

Preparation and standardization of FISH probes for various genetic disorders and extension of services in
Gujarat> Dept of Biotechnology, GOI, 2008-2011

Study of lysosomal storage disorders in children with regression of milestone: Indian Council of Medical
Research, GOI, 2006-2009 (54/2/2005-BMS)

Study of Genetic susceptibility to Neural Tube defects and the association with Maternal Vitamin B12 and
Folate status: Dept of Biotechnology, GOI, Multicentric project. 2006-2009 (BT/PR-7585/PID/20/298/2006)

Herbal Based preparations for Degenerative disorders: Diabetes mellitus type II (NIDDM) with emphasis on
insulin sensitization”: Council of Scientific and Industrial Research, Govt of India. 2003-2007

Gene Polymorphism and Folate Metabolism in mothers with Down syndrome child, with Dr James Jill,
Toxicological Research centre, Arkansas, USA

Study of LAMIN gene mutation in large Indian Family with Familial Partial Lipodystrophy: Prof Robert Hegle,
Canada
Education
2002
Diploma in Reproductive Medicine and Reproductive Biology,
Geneva University, Geneva, Switzerland.
2001
Fellow: Indian College of Mother and Child Health
1983
Ph.D. in Biochemistry
Sir H.N.Hospital & Institute for Research and Reproduction (ICMR)
Mumbai University, Mumbai-400 004.
1980
M.Sc. Biochemistry (By Dessertation)
Sir Harkishandas Hospital, Mumbai University
Mumbai-400 004.
1976
B.Sc. in Microbiology
J. and J. College, Nadiad. India.
Special Training Acquired
September to October 2009
Umbilical cord blood stem cell preparataion and characterization:Univ
of Minnesota, Dept of cellular and Molecular cell Therapy, USA
August 2005 ,February 2008,2012
Visiting scientist at Guy and Thomas Hospital, UK for Lysosomal
storage disorders training in Dept of Genetics, Enzyme Laboratory
September 2001 to October 2001
11th Postgraduate course in Reproductive Medicine and
Reproductive Biology: Geneva University and WHO. Held at Geneva.
August 1996
Visiting Scientist: Blood Research Centre, Portland – Maine, USA
(Special Training in Triple Marker screening for High Risk
Pregnancies with Prof. George Knight)
May to June1995
Visiting Scientist : Edinburgh University, Dept. Of Urology & Surgery,
Western General Hospital, Edinburgh, UK., Area Cytogenetic's
Centre, Royal Hospital for Sick Children, Edinburgh, UK., Duncane
Guthrie Institute of Medical Genetics, Glasgow, UK. , Foundation of
blood research : Portland, Maine, USA.
August 1995
Visiting Scientist: Melbourn IVF Centre, Melbourn, Australia.
October 1992
Training in Endocrinology : Erasmas Summer Programme, Erasmas
University, Post Graduate Institute of Medical Education, Rotterdam,
Netherland
December 1990
Participated in first INDO-US Symposium & Workshops on
Endocrinology & Metabolism held at AIIMS, New Delhi
March to April 1989
Training in IN VITRO FERTILIZATION AT INFERTILITY MEDICAL
CENTRE
(MONASH
MEDICAL
CENTRE,
MELBOURNE,
AUSTRALIA from under the guidance of Prof. G. Covacs (Prof. Carl
Wood and his team).
September 1987
Training in MALE FERTILITY at WESTERN GENERAL HOSPITAL,
EDINBURGH from. This was under the guidance of DR. T. B.
HARGRAVE (WHO ADVISER: INFERTILITY COMMITTEE.)
May 1981
Training Course on Peptide Hormones-Radioimmuno-Assay held at
IRR Bombay, 1981.
Experience
December 2010
Genetics in clinical practice: Diagnosis to therapeutics,12th Dec
December 2009
One day symposium organized on ‘Genetics in Clinical Practice”” 20 th
December, 2009 at Ahmedabad
January 2008
GeneDiot program by Gujarat State Biotech
Mission for Molecur techniques: 1st January to 7th
January, 2008, at FRIGE House, Ahmedabad
November 2007
Winter workshop in molecular diagnosis of genetic
disorders at Institute of Human Genetics, FRIGE Houes, 19th to 27th
Nov 2007
December 2005
Organized one day symposium on “ Obesity and Pubertal Disorders”
at Ahmedabad in association with IMS and AOGS
January 2004
Organizing Secretary: 7th National Conference and Molecular
Workshop of Indian Society of Prenatal Diagnosis and Therapy .2325th January,2004
December 2000
December 2000
Organized one-day scientific symposium on “Genetic Disorders”
Organized Workshop on antenatal diagnosis of Beta- Thalassemia,
Foundation For Research in Genetics and Endocrinology (FRIGE),
Genetics Centre, Ahmedabad.
1990 to till date
Yearly up-date in Endocrinology seminar
Reviewer
Indian Pediatrics , Ind J Medical Research
European Journal of Obstetrics and Gynecology
Awards and Honors
January 1980 to December 1983
Awarded Junior Research Fellowship of ICMR for Ph.D. work.19801983
1992
Summer Fellowship for summer programme in Endocrinology,
Erasmus University, Rotterdam, The Netherland.
2001
WHO Fellowship for 11th PG course in Rep Medicine and Rep
Biology
2001
Biogrpahy included and published by Marqui’s Who is Who in the
World
2005
International scientist of the year, Cambridge Press, Cambridge, UK
2006
Travel Fellowship of International Society of Neonatal screening for
Presentation of Lysosomal storage disorders in India at Osaka, 6 th Int
conference of ISNS, Sept 2006
2009
UICC ICRETT Felowship for training in UCB stem cell at Univ of
Minneapolis, USA, Sept-Oct 2009
2010
Man of the year in Medicine and Healthcare, American
Institute, Inc, Cambridge, USA
2011
Great minds of 21st century, American Biographical Institute, Inc
2012
Marquis Who’s Who in the world 2012-2013
Pr of es s io n a l M em ber s h ip :
L if e M em ber
S ec r et ar y
T reas ur er
Executive member
Executive member
Founde r Trustee
Biographical
Executive Member: Endocrine Society of India: 1995-98
Member; Endocrine Society, USA
Member: American society of Human Genetics
Member: International Society for New Born Screening
Member: Society For Study of Inborn error of metabolic disorders
International Council for Iodine Deficiency Disorders
Endocrine Society of India
Indian Society for study of Reproduction & Fertility
Indian Society of Perinatology and planned Parenthood
Thyroid Association of India
Indian Society of Clinical Pharmacology & Therapeutics
Indian Society of Human Genetics
Indian Menopause Society
International Society for Iodine deficiency disorders
E n doc r i n e S oc i et y ( W es t Zon e)
In d ia n M e no p aus e Soc i et y( A hm ed ab a d Ch a pt er)
Indian Meno[ause Society (2005-2008)
Endocrine society of India (1995-2000)
Fo un d at i on
F or
Res e arc h
in
G e ne t ic s
a nd
E nd oc r i no l og y.
Re g is t er ed c h ar it ab l e T rus t:
R eg is tr at i on No : E / 13 2 37
( 80 G IT ex em pti o n)
M anging T r ust e e: S h et h C har i ta b l e T rus t
Re g is tr at i o n No : E 1 2 8 62( 8 0G IT )
Invited Talks
1. DNA damage in DM:Interventional studies:The ICMR strategic Thrust symposium on “Translational Research
and Reverse Pharmacology, 31st May-1st June 2012, ICMR advanced center for reverse pharmacology in
traditional medicine, Mumbai
2. DNA Damage and Interventions: ICMR workshop for Training in Reverse Pharmacology. 26 th March-9th April
2011, Oragnizer: Medical Research Centre-Kasturba Health Society, Mumbai.
3. Neuroregression and Occurance of storage disorders. In symposium on Genetics in clinical practice. 12 th
December, Ahmedabad,2010
4. Biochemical markers in Pregnancy: AOGS-FOGSI workshop on Birth Defects. 14 th November,2010
5. Prenatal diagnosis of common lysosomal storage disorders in India: 10 th National conference of ISPAT,
Mumbai, 3-4th April 2010
6. Diagnosis of Genetic disorders: Cellular to Molecular Biology. National symposium on Biotechnology Led
Paradigm shift-2010. 24th Jan 2010, ARIBAS, Vidhyanagar
7. Pre and Postnatal Diagnosis of Lysosomal storage disorders: In Symposium on Lysosomal Storage Disorders
by: Rainbow children hospital and Perinatal care. Hyderabad. 21st September, 2008
8. Genetic Diversity in Thalassemia patients: Medical care centre trust. K.J.Patel children hospital, Vadodara. 7 th
Sept 2008
9. Lysosomal storage diseases: Medical care centre trust. K.J.Patel children hospital, Vadodara. 7 th Sept 2008
10. Stem cell transplantation in Diabetes: Diabetes update-2008: Endocrine Dept of V.S.Hospital. 13th July, 2008
11. Lysosomal storage disorders: Indian Scenario: International conference on Medical and Community Genetics:
Post Graduate Institute of Medical Education and Research: Chandigarh. 15th to 17th February, 2008
12. Lysosomal Disorders: Scenario in India: CME on Inborn Errors of Metabolism: Neogen Labs: Rajkot: 2 nd
December, 2007
13. Beta Thalassemia: Imapct in Indian scenario: Human Health Care: Redefined 2008 Held by Gujarat Univ,
Dept of Zoology, Ahmedabad. 2008
14. Special considerations for clinical research in Biotechnology: In Emerging trends in clinical trials and clinical
research: Role of clinicians and Pharmacologists: October 13th 2007, Ahmedabad
15. Lysosomal storage disorders: Indian Perspectives: Symposium on IEM: 28th Sept, 2007, Pune
16. Clinical Application of Cytogenetics: 2nd GUJCON ASI – 2007, Ahmedabad, 24th February 2007.
17. Let us prevent Birth Defects:ISPAT.. Lysosomal storage disorders: Less known but common metabolic
disease. 3rd to 5th Nov 2006
18. Triple Marker study: Myths and Reality. SOGOG, Bharuch, 25th November 2006
19. Prenatal Diagnosis of common Genetic Disorders. GIMACON 2006. Surat
20. Healthcare Biotechnology in Gujarat: Healthcare Biotechnology summit. Org by Gujarat Biotech Mission, Govt
of Gujarat. 4th February, 2006
21. Approach to storage disorders. 1st Genetics companion course for preditrics post graduate. Deenanath
Mangeshkar Hospital, Pune, Nov 12-13th, 2005
22. Interpretation of lab reports for metabolic disorders. 1 st Genetics companion course for pediatrics post
graduates. Deenanath Mangeshkar Hospital, Pune,Nov 12-13th 2005
23. Gene Polymorphism in Cardiology: Plenary Lecture at Joint International conference of International society
for Heart Research and International academy of cardiovascular sciences, Ahmedabad, 31 st December-2nd
January, 2005
24. Decision making in pregnancies with congenital malformations: Kashiba General Hospital, Vadodara, 12 th
September, 2004
25. Triple marker screening in second trimestar of pregnancy and detection of aneuploidies: Indian experience. In
International conference on Human Genome update, Hyderabad. 28th-30th August, 2004.
26. Endocrinology of Aging: In workshop on Frontiers of Research in Longevity Medicine. Longevity centre, Pune.
Aug 25th, 2004.
27. MTHFR Polymorphism: It’s health implications: Dept of Bioscience. S.P.University, Valedictory lecture,
National Science Foundation Day, February, 2004
28. Decision making in pregnancy: Indian Academy of Pediatrics, Surat,1st June,2003
29. Gene Therapy: Indian Academy of Pediatrics: Surat, 1st June, 2003
30. Genetics-Endocrinology and RIA : Open discussion, The Piyush Study Circle, Ahmedabad, 15th June, 2003.
31. Recent endocrine investigations for infertility held at Ahmedabad: 24 th Nov. 2002 by Memnagar-Ghatlodia
Medical Association.
32. Detection of Mycobacterium Tuberculosis by PCR : 6th Annual conference of Association of Chest Physicians
of Gujarat held at Mt. Abu on 4-5 Dec. 99.
33. Cytogenetics and its Clinical-correlation in Turner’s Syndrome In Multidisciplinary Awareness Colloquium-on
Growth, Development and Pubertal-Muturation held at Jaipur, 28th Nov. 99 by Bhuvan’s SPARC and Jaipur
Obstetrics and Gynecology society.
34. Endocrinology and growth disorders. At B.J.Medical medical college, 1999.
35. Tonic control of hormone secretion: Its investigation in
relation to thyroid and growth disorder. UGC
refressor course in Clinical Endocrinology, M.S. University, Baroda. Dec. ‘98
36. Laboratory Investigation of Thyroid disorders: Association of Physicians of Gujarat, Sept. 1997.
37. Endocrine study for childhood adrenogenital disorders and sexual ambiguity. Indian Academy of pediatrics,
Ahmedabad Chapter, 1997.
38. Hypergonadotropic Amenorrhoea : Symposium lecture : 25th Annual meeting of Endocrine Society of India
held at JIMPER, Pondicherry, Dec.1994.
39. Antinuclear Antibodies: Diagnostic markers in certain autoimmune diseases: 19th Annual meeting of the
Indian Association of Dermatologist, Laprologists & Veneriologist, Held at Ahmedabad on 21st March 1993.
40. Lab. Investigations for thyroid disorders : Association of practicing Pathologists, Ahmedabad, 1992.
41. Tumor Markers in oncosurgery : R.J.B. Haribhakti Oration Lecture, Guj.Surgeons Association, Ahmedabad,
Oct.1990.
42. Endocrine Controls of corpus luteum function : Association of practicing pathologists of Ahmedabad,1989.
43. Role of RIA in obstetrics & Gynecology : Annual meeting of obstetrics & Gynecology of Gujarat 1988.
44. Invited by Ahmedabad Doordarshan to participate in a talk on THYROID DISORDERS in Nov. 1988.
L is t O f P u bl ic a ti o ns
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2.
K Patil, J Sheth, G Shah (1980). Raised maternal serum and amniotic fluid AFP associated with
omphalocele in the fetus. Ind J Pathol Microbiol, 23:97.
K Patil, J Sheth, C Pandya, M Panthaki (1980). Parental sex prediction by RIA of amniotic fluid FSH. Ind J
Pathol Microbiol, 23 :97.
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J Sheth, K Patil (1981). Amniotic fluid testosterone in mid pregnancy in determination of fetal sex . J.
Obstet Gynec India, 31(4):576.
J Sheth, A Sheth, N Arbatti, S Rao, M Panthaki (1982). Influence of fetal sex on amniotic inhibin, follitropin
and prolactin. Ind. J. Med. Res. 76:224.
J Sheth, A Sheth, F Vin (1983). Bioreactive and immuno reactive inhibin like substance in human fetal
gonads . J. Biol Res. In Preg. 4(3):100.
J Sheth, S Moodbidri, S Rao, A Sheth, M Panthaki (1984). Isolation and purification of prolactin from
human amniotic fluid by chromatofocussing. Ind. J. Biochem, Biophy. 21:89.
J Bhatwadekar, S Trivedi, G Patel, J Sheth, N Desai (1984). Tumor markers in primary and metastatic liver
cancer : Possible value in early detection & differentiation. Ind. J. Cancer. 21:95.
J Sheth, F Sheth, R Banker, B Shah, R Nadkarni, N Shah (1987). Premature Ovarian failure. J. Obstet
Gynec. India. 37:557.
R Goyal, S Jain, J Sheth, K Dave, H Mehta (1987). Altered digoxin levels in diabetic patients with CCF.
Ind. J. Pharmac 19:117.
J Sheth, P Thakor, S Shah, B Shah, F Sheth (1989). A newer avenue for thyroid function tests. J. Asso.
Phy. Ind 37(11):703.
S Joshi, J Trivedi, J Sheth, H Mehta, K Dave, D Santani, R Goyal (1989). Higher digoxin levels associated
with diabetes mellitus. Ind. Pharmac. Soc. (21):41.
J Sheth (1989). Guest Article : Application of RIA as a diagnostic aid. Gujarat Medical Journal, July 1989.
J Sheth, R Banker, B Shah (1990). Incidence of sperm antibodies in Indian populations. J. Obstet Gynec.
Ind. 40(6):784.
14.
J Sheth (1991). Newer avenue for evaluation of thyroid dysfunction. Indian J. of Medical Sc.
45(2).
15.
J Sheth (1992). Prostate Specific Antigen : A new marker for prostate malignancy : Ind. J. Clin. Practice
3(4):66-67.
J Sheth (1992). Laboratory Diagnosis of Thyroid disorders : Guj. Med. Journal (Review Article).
J Sheth, B Trivedi (1992). Effect of envas on microalbuminuria and blood pressure. Ind. J. Clin. Practice
2(10):45.
J Sheth, F Sheth (1992). Hyperprolactinamia : A common endocrine thread in infertility. J. Obstet. Gynec.
Ind. 42(3):366-389.
J Sheth, B Trivedi, L Shah (1993). Prevalence of microalbuminuria in diabetic subjects. J. Assoc. Phy India
41(19):562.
J Sheth (1993). An approach to infertile male with Oligo/Azoospermia. 'The Antiseptic' 90:7.
R Bhavsar, J Sheth, R Joshi, U Shah (1995). Turner's Syndrome in a new born. A case report. Ind. J. Clin.
Pract. 5(9):77-96.
J Sheth, F Sheth, H Patel (1995). Alphafetoprotein (AFP) - A marker for prenatal diagnosis of birth defects.
Ind. J. Clin. Pract. 5(9):87-89.
F Sheth, A Multani, J Sheth, U Radhakrishna, V Shah, N Chinoy (1996). Incomplete Gonadal Dysgenesis :
A Case Report. Urol Int. 56:57–60.
F Sheth, V Hydrabadi, J Sheth, H. Patel, D Shah (1996). Sex chromosomal Mosaisism and secondary
amenorrhoea: A case report. Ind. J. Obstet. Gynec. 46(3):423-424.
S Joshi, D Dantani, J Sheth, H Mehta, K Dave, R Goyal (1996). Investigations in to the possible
mechanisms involved in altered Digoxin levels in diabetic patients. Ind. J Pharmac 40(1):65–69.
J Sheth, F Sheth, B Shah(1996). Laboratory Diagnosis of Cushing Syndrome. Ind J of Clinical Practice
6(11):17-21.
U Radhakrishna, J Blouin, H Mehenni, T Mehta, F Sheth, J Sheth, J Solanki, S Antonarakis (1997). The
gene for Autosomal Dominant Hidrotic Ectodermal Dysplasia (Clouston Syndrome) in a large Indian family
maps to the 13q11-q12.1 pericentromeric region. Am J Med Genet. 71:80 - 86.
R Mallya, P Bhansali, H Mehta, J Sheth, K Dave, D Santani, R Goyal (1997). Effect of Nifedipine, Captopril
and Enalapril on serum digoxin levels in hypertensive patients with congestive cardiac failure. Ind. J.
Hyperten. 2: 3-6.
J Sheth (1997). Serological Diagnosis of Tuberculosis using A60 Antigen by ELISA method. Spectrum. P :
33-36.
R Vaidya, M Shringi, A Vaidya, C Godse, P Nanavat., S Shah, S Talwalkar, J Sheth, P Walton 1999.
Serum Leptin concentration in Hyperinsulinemic lipodystrophic or non obese patients. JAPI. 47(6):584-588.
J Sheth (1999). Diabetes, Microalbuminuria and Hypertension : Clin. Exp. Hypertension. 21(1&2):61-68.
J Sheth, P Thakore, B Trivedi, N Shah, R Vaidya (1999). Sub-biochemical Hypothyroidisim: An
Exaggerated TSH response to TRH. JAPI. 47(3):275-279.
J Sheth, F Sheth, V Hyderabadi, K McElreavey, U Radhakrishna (2000). A case of a sex reversed 46, XY
female with endodermal sinus tumor. Ind J Hum Genetics. 6(1&2):11-14.
J Sheth, F Sheth (2001). Study of anticardiolipin antibodies in repeated abortions- An Institutional
experience. Ind J Path Microbiol. 44(2):117-121.
J Sheth, R Bhattacharya, R Chauhan, F Sheth (2001). Lysosomal storage disorders: Diagnosis to
Therapeutics. Gujarat Med J. 58(3):7-11.
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R. Vaidya, A Vaidya, S Talwalkar, S. Mehtalia, M Shringi, S Pandey, S Shah, C Godse, J Joshi, J Sheth, V
Kamdar (2002). Clinical, Endocrine and Metabolic studies in the kindred of Familial Partial LipodystrophyA syndrome of Insulin Resistance. JAPI. 50:773-776.
J Sheth, F Sheth, R Bhattacharya (2002). Morquio- B syndrome ( MPS IV B ) accosiated with Beta
Galactosidase deficiency in two siblings. Ind J Pediatrics. 69(1):109-111.
J Sheth, R Bhattacharya, F Sheth (2002). Prenatal diagnosis of Tay Sachs B1 variant in a Maharashtrian
family. Ind Pediatrics. 39:704-706.
J Sheth, B Shah, N Shah (2002). Proficiency of Immunoassays in endocrinology : Does anybody Care?
Guj Med J 59:2.
J Sheth, N Shah (2002). Thyroid Hormone Therapy: How to monitor in a clinical practice? Contemporary
Medicine. 7:20-23.
J Sheth, F Sheth (2003). Gene Polymorphism and Folate metabolism: A Maternal risk factor for Down
syndrome? Indian Pediatrics 40:1-9.
F J Vinsheth, J Sheth, V R Hyderabadi, K McElreavey, C.Krausz. : Cytogenetic and Molecular study in
46,XY Female: J Obstet and Gynec Ind., 53(4), 398-400: 2003.
F Vinsheth, J Sheth, A Patel, R Vaidya, A Verhest (2003). Usefulness of cytogenetics in Leukemias: Ind J
Cancer. 39:139-142.
F Vin, Antonella Z, Luisa A, Shah AD, J Sheth, Rocchi M (2003). Cytogenetics and Fluorescence In-Situ
Hybridization in detection of Hematological Malignancies. Ind. J Cancer. 40(4):135-139.
J Sheth, P Patel, F Sheth, R Shah (2004). Lysosomal Disorders: Our experience: Ind Pediatrics.
41(3):260-266
J Sheth, F Sheth, N Pandya, R Vaidya (2004). Recurrent Neural tube Defects (NTD’S) and deficiency of
Vitamin B12 beyond Folic Acid. J Obstet Gynec India. 53(6):596-597.
F Sheth, J Sheth, V Hyderabadi. Study of Genetic disorders by chromosome analysis: It’s role in modern
era of medicine. Guj Med J.61(1):9-12.
S Pandey, S Pungavkar, R Vaidya, D Patkar, R Hegele, F Sheth, J Sheth, S Shah, A Vaidya (2005). An
Imaging Study of Body Composition Including Lipodeposition Pattern in a Patient of Familial Partial
Lipodystrophy (Dunnigan Type). JAPI. 53:897-900.
F Sheth, J Sheth, A Verhest (2005). A three way complex translocation (4;9;22) in two patients with
Chronic myeloid leukemia. J of Cancer Res and Therapeutics. 1(2):108-110.
F Sheth, J Sheth, C Desai (2006). Case of near triploidy with isochromosome 17q in CML: Cancer
Genetics and Cytogenetics: 164:177-178.
F Sheth, P Patel, A Vaidya, J Sheth (2006). Increased frequency of Sister chromatid exchanges in patients
with Type II diabetes. Current Science. 90(2):236-239.
J Sheth, F Sheth (2006). Lysosomal storage disorders: From clinical presentation to biochemical
confirmation. J of Genetics screening and Health. 1:3-10.
U Radhakrishna, U Ratnamala, M Gaines, S Beiraghi, D Hutchings, J Golla, S Husain, P Gambhir, J
Sheth, F Sheth, C Ghati, M Naveed, J Solanki, U Patel, D Master, R Memon, G Amtonarkis, S Antonarkis,
S Nath (2006). Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian Families
reveals significant evidence of linkage at 13q33.1-34. Am.J.Hum.Gene 79:580-585.
J Sheth, S Shah, D Master, F Sheth (2006). Prenatal Exclusion of Lamellar Ichthyosis based on two novel
mutations in TGM 1 gene: A case report. Ind. J. Dermetol. 51(4):281-282.
J Sheth, R Joshi, D Master, F Sheth (2007). Ring chromosome 9 in a dysmorphic child. Ind. J. Pediat.
74(5):507-508.
P Gambhir, J Sheth, F Sheth (2007). Syndrome in Focus GM 1 Gangliosidosis. J of Genetics, Screening &
Health. 2(1):20-22.
F Sheth, S Rao, MDesai, F Vin, J Sheth (2007). Cytogenetic Analysis of Clinical suspected Down
syndrome cases in Gujarat with reference to maternal age risk factor. Ind. Pediatrics ,Oct, 774-777.
F Sheth, U Radhakrishna, M Morris, J Blouin, J Sheth, A Multani, S Antonarakis (2007). Cytogenetic,
Molelcular and FISH analysis of an isolicentric chromosome 21 idic(21)(q22.3) in a mildly-affected patient
with Down Syndrome. Int. J of Human Gen. 7(3):215-218.
J Sheth, F Sheth, P Pandya, R Priya, S Davla (2008). Establishment of database for different mutations of
β-globin gene for β-thalassaemia with respect to different communities in the population of Gujarat. Ind. J
of Pediat. 75(6):567-570.
J Sheth, F Sheth, N Oza (2008). Niemann-Pick Type ‘C’ Disease: A case report. Ind Pediatrics. 45:505507.
J Sheth, F Sheth, N Oza, M Doshi (2008). Triple maker study in midtrimestor of pregnancy and risk of
chromosomal abnormality: An Indian Experience. J Obstet Gynec India. 58(2):142-146.
T Mehta, L Prajapati, B Mittal, C Joshi, J Sheth, D Patel, D Dave, R Goyal. Association of HLA-B*1502
allele and carbamazepine-induced Stevens.Johnson syndrome among Indians. Indian J Dermatol Venereol
Leprol. 75( 6). 579-582.
F Sheth, E Ewers, N Kosyakova, A Weise, J Sheth, S Patil, M Ziegler, T Liehr (2009). A neocentric
isochromosome Yp present as additional small supernumerary marker chromosome – evidence against Utype exchange mechanism? Cytogenetic Genome Research. 125:115-116.
J Sheth, N Oza, M Mistri, P Naik, S Kumar, F Sheth (2009). Mucolipidosis type II (I-Cell) in two children
with skeletal abnormality, dysmorphism and hepotasplenomaghaly. Pediatric Oncall (serial online) (cited
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2009
May
1);
Vol
6,
Art#24.
Available
from:
http://www.pediatriconcall.com/fordoctor/casereports/mucolipidosis.asp.2009
G Vinci, R Brauner, A Tar, H Rouba, J Sheth, F Sheth, C Ravel, K McElreavy, A Bashamboo (2009).
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility.
Fertil Steril. 92(4):1347-50.
J Sheth, F Sheth , N Oza, P Gambhir, U Dave, R Shah (2010). Plasma Chitotriosidase activity in children
with lysosomal storage disorders. Ind J Pediatrics. 77:203-205.
F Sheth, J Andrieux, J Sheth (2010). Marker chromosome in a child with microcephaly and mental
retardation characterize by array-CGH as trisomy 18p. Ind. Pediatr. 47:277-279.
J Sheth, M Mistri, K Godbole, F Sheth (2010). Predominanace of Morquio-B (Mucopolysaccharidosis IV –
B) in children with skeletal dysplasia. Journal of Pathology and Laboratory Medicine. 2:29-36.
J Sheth, H Shah, F Sheth (2011). Infantile Glaucoma with coarse facial features as an early complication
of Hurler-Scheie. Pediatric oncall. Pediatric oncall [serial online] 2011 9cited 2011 March 1); vol 8(3) Art#--Available from: www.pediatriconcall.com/fordoctors/Viewers Choice/glaucoma.asp .2010
M Al-Ali, U Ratnamala, T Mehta, M Naveed, M Al-Ali, N Al-Khaja, J Sheth, D Master, A Maiti, C Ghati, S
Nath, U Radhakrishna (2010). Hidradenitis suppurativa (or Acne inversa) with autosomal dominant
inheritance
is
not
linked
to
chromosome
1p21.1-1q25.3
region.
Experimental dermatology. 19(9):851-853.
J Sheth, U Shah, F Sheth, N Shah, R Vaidya, A Vaidya (2011). Genoprotective effect of Enicostemma
Littorale Blume in type II Diabetic patients shown by single cell gel electrophoresis, sister chromatid
exchange and protein oxidation. Int J Hum Genet, 11(2):83-88.
H Sheth, A Munoz, C Sergi, J Pani, J Blouin, J Sheth, F Sheth (2011). Triple X syndrome in a trisomic
Down syndrome child: Both aneuploidies originated from the mother. Int. J. Hum. Genet. 11(1):51-53.
F Sheth, J Andrieux, E Ewers, N Kosyakova, A Weise, H Sheth, S Romana, M Lelorc'h, B Delobel, O
Theisen, T Liehr, S Nampoothiri, J Sheth (2011). Characterization of sSMC by FISH and molecular
techniques. Eur J Med Genet. 54(3):247-255.
McKenna David, J Sheth (2011). Umbilical cord blood: Current status and promise for the future. Ind J
Med Res. 134:261-269.
K Godbole, P Gayathri, S Gule, B Sasirekha, A Kanitkar-Damle, N Memane, S Suresh, J Sheth, G
Chandak, C Yajnik (2011). Maternal one carbon metabolism, MTHFR and TCN2 genotypes and neural
tube defects in India. Birth Defects Res A clin Mol Teratol. 91(9):848-856.
F Sheth, U Shah, M Desai, J Sheth (2011). Clinical profile of Inversion Y in people of Gujarat, West India.
Int J Hum Genet. 11(4):245-248.
F Sheth, J Pani, M Desai, J Sheth (2011). Single cell abnormality in couple with bad obstetric history and
repeated fetal loss: Occurance and clinical outcome. Int J Hum Genet. 11(4):259-263.
J Sheth, C Ankeshwaria, M Mistri, N Nanavaty, S Mehta (2011). Splenomegaly, Cardiomegaly and
osteoporosis in a child with Gaucher disease. Case reports in Pediatrics. 2011, Article ID
564868,doi:10.1155/564868
S Jain, I Panigrahi, J Sheth, S Agrawal (2012). STR markers for detecting heterogeneity in Indian
population.. Mol Bio Rep. 39(1):461-465.
J Sheth, M Mistri, M Kamate, S Vaja, F Sheth (2012): Diagnostic strategy for mucolipidosis II/III. Ind
Pediatrics. 49(12):975-977.
J Sheth, C Ankleshwaria, R Pawar, F Sheth (2012). Identification of Novel mutations in FAH gene and
Prenatal diagnosis of Tyrosinemia in Indian Family. Case Rep Genet. 2012;2012:428075. doi:
10.1155/2012/428075. Epub 2012 Oct 30
K Italia, J Sheth, P Sawant,A Nadkarni, K Ghosh, R Colah (2012). Prenatal diagnosis of HbE-Lepore and
Hb Lepore-B-Thalassemia: the importance of accurate genotyping of the couple at risk.2012. Prenatal
diagnosis. 32(7):703-707.
F Sheth, O Akinde, C Datar, O Adeteye, J Sheth (2012). Genotype-phenotype characterization of wolfHirschhorn syndrome confirmed by FISH - case reports. Case Rep Genet. 2012;2012:878796. doi:
10.1155/2012/878796. Epub 2012 Nov 22
F Sheth, N Gohel, T Liehr, O Akinde, M Desai, O Adeteye, J Sheth (2012). Gain of chromosome 4qter and
loss of 5pter – an unusual case with features of Cri du chat syndrome (CdCS). Case Rep Genet.
2012;2012:153405. doi: 10.1155/2012/153405. Epub 2012 Dec 20.
M Mistri, P Tamhankar, F Sheth, D Sanghavi, P Kondurkar, S Patil, S Idicula-Thomas, S Gupta, J Sheth
(2012). Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from
India PLoS ONE.7(6):1-10.e39122
J Sheth, H Patel, S Mehta, S Tewari, F Sheth (2013). Clinical and Molecular characterization of patients
with gross hypotonia and impaired lower motor neuron function. Ind. Pediatr. 50:591-593.
T Mampilly, G Mampilly, N Chandramohan, V Murugan, J Sheth, F Sheth, J Vijayalakshmy (2013).
Prenatal Dolichocephaly: Sign of Trouble? – A variant of Miller Dieker Syndrome. Fetal and Pediatric
Pathology, 32(4):308-311.
J Sheth, M Mistri, F Sheth, R Shah, A Bavdekar, K Godbole, N Nanavaty, C Datar, M Kamate, N Oza, C
Ankleshwaria, S Mehta, M Jackson (2013). Burden of lysosomal storage disorders in India: Experience of
387 affected children from a single diagnostic acility. JIMD Reports. 12:51-63.
89.
90.
91.
92.
F Sheth, J Andrieux, S Tewari, H Sheth, M Desai, P Kumari, N Nanavati, J Sheth (2013). Phenotypic
consequences of combined deletion 8pter and duplication 15qter. Molecular Cytogenetics. 6(1):24.
F Sheth, T Liehr, P Kumari, R Akinde, H Sheth, J Sheth (2013). Chromosomal Abnormalities In Couples
With Repeated Fetal Loss: An Indian Retrospective Study. Indian Journal of Human Genetics. 19(4); 415422. DOI: 10.4103/0971-6866.124369
F Sheth, H Sheth, P Kumar, S Tewari, M Desai, B Patel, J Sheth (2014). Evolution of Cytogenetics in
Disease
Diagnosis.
Journal
of
Translational
Toxicology
1(1);
3-9.
DOI:
http://dx.doi.org/10.1166/jtt.2014.1008
C nkleshwaria, M Mistri, A Bavdekar, M Muranjan, U Dave, P Tamhankar, V Khanna, E Jasinge, S
Nampoothiri, S Kadangot, F Sheth, S Gupta, J Sheth (2014). Novel mutations in the glucocerebrosidase
gene of Indian patients with Gaucher Disease. J of Human Genetics. 1-6. 2014 Feb 13. doi:
10.1038/jhg.2014.5. [Epub ahead of print]
Books/Chapter:
1. Endocrinology of Ageing in Frontiers of Research in Longevity Medicine. Eds Dr S.D.Gokhale, Mrs Radha
Raj, ILC India. Pp.83-92,2005
2. Lysosomal storage disorders: Less commomn but common metabolic disease. In Prenatal Daignosis,
Scientific manual . Publ. ISPAT, Pp.152-162. 2006.
3. Role of Fluorescence In-Situ Hybridization in Prenatal Diagnosis. In Prenatal Daignosis, Scientific manual.
Publ. ISPAT, Pp. 19-24. 2006.
4. Pompe disease; Symptoms, Diagnosis and Treatment. Advances in Medicine and Biology. Vol.14, ISBN:9781-61761-930-4. Ed. Leon V Berhardt. Nova Science Publishers Inc. 2010
5. Genetics in Clinical Practice – Symptoms, Diagnosis and Therapy. Editors: Dr Jayesh Sheth and Dr Frenny
Sheth Publishers Jaypee brothers. 2013
ISBN:978-93-5152-153-2