CURRICULUM VITAE

Dr. Jayesh Sheth                                          

Present Status
Hon   DIRECTOR
Institute of Human Genetics
FRIGE House, Jodhpur Gam Rd
Satellite,
Ahmedabad-380 015
Gujarat, INDIA.
Hon. Associate. Professor Of Endocrinology and  Biochemistry,
Sheth V.S.Hospital & NHL Medical College, Ahmedabad-380 006. Gujarat, INDIA.

Member: 
Board of studies in Biochemistry, M.S. University
Board of studies in Biotechnology: Saurashtra University

P.G.Teacher in Biochemistry for Ph.D.
Gujarat University and M.S.University

Consultant Endocrinologist 
Shah Pathology Laboratory
Medicare Centre
Ellisbridge, Ahmedabad-380 006. Gujarat, INDIA.

 Scientific Advisor
Jivraj Mehta Hospital & Bakeri Medical Research Foundation, Ahmedabad-380 015. INDIA

Current Research Project                             

  • Mutation study of the prevalent lysosomal storage disorders in India and extension of lysosomal enzyme stud, ICMR, (54/1/2009-BMS), 2010-2012 

  • Preparation and standardization of FISH probes for various genetic disorders and extension of services in Gujarat> Dept of Biotechnology, GOI, 2008-2011

Research Projects completed

  • 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.
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 and February 2008  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 June 1995  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”” 20th 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 .23-25th January,2004.
December 2000 Organized one-day scientific symposium on “Genetic Disorders” .
December 2000  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.1980-1983.
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, 6th Int conference of ISNS, Sept 2006.
2009 UICC ICRETT Felowship for training in UCB stem cell at Univ of Minneapolis, USA, Sept-Oct 2009.

Professional Membership: 
Executive Member: Endocrine Society of India: 1995-98
Member; Endocrine Society, USA
International Council for Iodine Deficiency Disorders

Life Member  

  • 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 Neonatal Screening
  • International Society for Iodine deficiency disorders

Secretary 
Endocrine Society ( West Zone)

Treasurer 
Indian Menopause Society(Ahmedabad Chapter)

Executive member

  • Indian Meno[ause Society (2005-2008)
  • Endocrine society of India (1995-2000)

Founder Trustee
                               
Foundation For Research in Genetics and Endocrinology.                         
Registered charitable Trust:   Registration No:E/13237(80G IT exemption)

Manging Trustee
Sheth Charitable Trust
Registration No: E 12862(80G IT)


Invited Talks

  1. Biochemical markers in Pregnancy: AOGS-FOGSI workshop on Birth Defects. 14th November,2010.

  2. Prenatal diagnosis of common lysosomal storage disorders in India: 10th National conference of ISPAT, Mumbai, 3-4th April 2010.
  • Diagnosis of Genetic disorders: Cellular to Molecular Biology. National symposium on Biotechnology Led Paradigm shift-2010. 24th Jan 2010, ARIBAS, Vidhyanagar.

  • 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.

  • Genetic Diversity in Thalassemia patients: Medical care centre trust. K.J.Patel children hospital, Vadodara. 7th Sept 2008.
  1. Lysosomal storage diseases: Medical care centre trust. K.J.Patel children hospital, Vadodara. 7th Sept 2008.
  • Stem cell transplantation in Diabetes: Diabetes update-2008: Endocrine Dept of V.S.Hospital. 13th July, 2008.

  • 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.

  • Lysosomal Disorders: Scenario in India: CME on Inborn Errors of Metabolism: Neogen  Labs: Rajkot: 2nd December, 2007.

  • Beta Thalassemia: Imapct in Indian scenario: Human Health Care: Redefined 2008 Held by Gujarat Univ, Dept of Zoology, Ahmedabad. 2008.

  • 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.

  • Lysosomal storage disorders: Indian Perspectives: Symposium on IEM: 28th Sept, 2007, Pune.

  • Clinical Application of Cytogenetics: 2nd GUJCON ASI – 2007, Ahmedabad, 24th February 2007.

  • Let us prevent Birth Defects:ISPAT.. Lysosomal storage disorders: Less known but common metabolic disease.  3rd to 5th Nov 2006.

  • Triple Marker study: Myths and Reality. SOGOG, Bharuch, 25th November 2006
  • Prenatal Diagnosis of common Genetic Disorders. GIMACON 2006. Surat.

  • Healthcare Biotechnology in Gujarat: Healthcare Biotechnology summit. Org by Gujarat Biotech Mission, Govt of Gujarat. 4th February, 2006.

  • Approach to storage disorders. 1st Genetics companion course for preditrics post graduate. Deenanath Mangeshkar Hospital, Pune, Nov 12-13th, 2005.

  • Interpretation of lab reports for metabolic disorders. 1st Genetics companion course for pediatrics post graduates. Deenanath Mangeshkar Hospital, Pune,Nov 12-13th 2005.

  • Gene Polymorphism in Cardiology: Plenary Lecture at Joint International conference of International society for Heart Research and International academy of cardiovascular sciences, Ahmedabad, 31st December-2nd January, 2005.

  • Decision making in pregnancies with congenital malformations: Kashiba General Hospital, Vadodara, 12th September, 2004.
  • 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.

  • Endocrinology of Aging: In workshop on Frontiers of Research in Longevity Medicine. Longevity centre, Pune. Aug 25th, 2004.

  • MTHFR Polymorphism: It’s health implications: Dept of Bioscience. S.P.University, Valedictory lecture, National Science Foundation Day, February, 2004.

  • Decision making in pregnancy: Indian Academy of Pediatrics, Surat,1st  June,2003
  • Gene Therapy: Indian Academy of Pediatrics: Surat, 1st June, 2003.

  • Genetics-Endocrinology and RIA : Open discussion, The Piyush Study Circle, Ahmedabad, 15th June, 2003.

  • Recent endocrine investigations for infertility held at Ahmedabad: 24th Nov. 2002 by Memnagar-Ghatlodia Medical Association.

  • 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.

  • 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.

  • Endocrinology and growth disorders. At B.J.Medical medical college,   1999.

  • 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.

  • Laboratory Investigation of Thyroid disorders: Association of Physicians of Gujarat, Sept. 1997.

  • Endocrine study for childhood adrenogenital disorders and sexual ambiguity. Indian Academy of pediatrics, Ahmedabad Chapter, 1997.

  • Hypergonadotropic Amenorrhoea  :  Symposium lecture  :  25th Annual meeting of Endocrine Society of India held at JIMPER, Pondicherry, Dec.1994.

  • 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.

  • Lab. Investigations for thyroid disorders  :  Association of practicing Pathologists, Ahmedabad, 1992.

  • Tumor Markers in oncosurgery  : R.J.B. Haribhakti Oration Lecture, Guj.Surgeons Association, Ahmedabad, Oct.1990.

  • Endocrine Controls of corpus luteum function :  Association of practicing pathologists of Ahmedabad,1989.

  • Role of RIA in obstetrics & Gynecology : Annual meeting of obstetrics & Gynecology of Gujarat 1988.

  • Invited by Ahmedabad Doordarshan to participate in a talk on THYROID DISORDERS in Nov. 1988.

List Of Publications

  1. K. P. Patil, J.J.Sheth, G .S. Shah: Raised maternal serum and amniotic fluid AFP associated with omphalocele in the fetus. Ind J Pathol Microbiol, 23: 97, 1980.

  2. K. P. Patil, J. J. Sheth, C. V. Pandya, & M. H. Panthaki: Parental sex prediction by RIA of amniotic fluid FSH. Ind J Pathol Microbiol, 23 : 97, 1980.

  3. J.J.Sheth, K. P. Patil : Amniotic fluid testosterone in mid pregnancy in determination of fetal sex . J. Obstet Gynec India, 31(4) : 576,1981.

  4. J. J. Sheth, A. R. Sheth, N. J. Arbatti, S. S. Rao, and M. H. Panthaki. Influence of fetal sex on amniotic inhibin, follitropin and prolactin. Ind. J. Med. Res. 76:224, 1982.

  5. J. J. Sheth, A. R. Sheth, F. K. Vin : Bioreactive and immuno reactive inhibin like substance in human fetal gonads .  J. Biol Res. In Preg. 4(3) : 100 , 1983.

  6. J. J. Sheth, S. B. Moodbidri, S. S. Rao, A. R. Sheth and M. H. Panthaki. Isolation and purification of prolactin from human amniotic fluid by chromatofocussing.  Ind. J. Biochem, Biophy, 21 :89 , 1984.

  7. J. M. Bhatwadekar, S. N. Trivedi, G. H. Patel, J.J. Sheth, N. D. Desai . Tumor markers in primary and metastatic liver cancer : Possible value in early detection & differentiation . Ind. J. Cancer, 21 : 95, 1984.

  8. J. J. Sheth, F. J. Sheth, R. N. Banker, B. S. Shah, R. M. Nadkarni, and N. I. Shah. Premature Ovarian failure. J. Obstet Gynec. India, 37 :557, 1987.

  9. R. K. Goyal, S. M. Jain, J. J. Sheth, K. C. Dave, H. C. Mehta. Altered digoxin levels in diabetic patients with CCF. Ind. J. Pharmac 19:117, 1987.

  10. J. J. Sheth, P. B. Thakore, S. M. Shah, B. S. Shah, F. J. Sheth. A newer avenue for thyroid function tests. J. Asso. Phy. Ind 37(11) : 703,1989.

  11. S. J. Joshi, J. J. Trivedi, J. J. Sheth, H. C. Mehta, K. C. Dave, D. D. Santani, R. K. Goyal, : Higher digoxin  levels associated with diabetes mellitus. Ind. Pharmac. Soc. (21) : 41,1989.

  12. J. J. Sheth : Guest Article : Application of RIA as a diagnostic aid. Gujarat Medical Journal, July 1989.

  13. J. J. Sheth, R. N. Banker, B. S. Shah : Incidence of sperm antibodies in Indian populations : J. Obstet Gynec. Ind. 40(6),784,1990.

  14. J. Sheth : Newer avenue for evaluation of thyroid disfunction. Indian J. of Medical Sc. 45(2)  1991. (Abstract)

  15. J Sheth, Prostate Specific Antigen : A new marker for prostate malignancy : Ind. J.  Clin. Practice 3 (4),  66-67, 1992.

  16. J Sheth : Laboratory Diagnosis of Thyroid disorders : Guj. Med. Journal (Review Article) 1992.

  17. J Sheth & Bharat Trivedi : Effect of envas on microalbuminuria and blood pressure : Ind. J.  Clin. Practice 2(10) : 45,1992.

  18. J Sheth, Frenny Sheth : Hyperprolactinamia : A common endocrine thread in infertility. J. Obstet. Gynec. Ind. 42 (3) : 366-389,1992.

  19. J J Sheth, Bharat B Trivedi, Lalit J Shah : Prevalence of microalbuminuria in diabetic subjects : J. Assoc. Phy India 41 (19) : 562, 1993.

  20. J Sheth : An approach to infertile male with Oligo/Azoospermia : 'The Antiseptic' 90 (7), 1993.

  21. Rekha Bhavsar, J J Sheth, Rajesh Joshi, Upen Shah : Turner's Syndrome in a new born : A case report. Ind. J. Clin. Pract. 5(9) : 77-96, 1995.

  22. J J Sheth, F J Sheth, H A Patel : Alphafetoprotein (AFP) - A marker for prenatal diagnosis of birth defects. Ind. J. Clin. Pract. 5 (9) : 87-89, 1995.

  23. F J Sheth, A S Multani, J J Sheth, U Radhakrishna, V C Shah, N J Chinoy : Incomplete Gonadal Dysgenesis : A Case Report. Urologia Internationalis. Jan. 1996.

  24. F. J. Sheth, V. R. Hydrabadi, J. J. Sheth, H. A. Patel, D. M. Shah (1996). Sex chromosomal Mosaisism and secondary amenorrhoea: A case report.Ind. J. Obstet. Gynec. 46(3)..423-424,1996.

  25. S. D. Joshi, D. D. Dantani, J J Sheth, H. C. Mehta, K. C. Dave, R. K. Goyal:Investigations in to the possible mechanisms involved in altered Digoxin levels in diabetic patients. Ind. J Pharmac 40 (1) : 65–69, 1996.

  26. J J Sheth, F J Sheth, B S Shah : Laboratory Diagnosis of Cushing Syndrome. Ind J of Clinical Practice 6(11) : 17-21. 1996.

  27. U Radhakrishna, J L Blouin, H Mehenni, T Y Mehta, F J Sheth, J J Sheth, J V Solanki, S E Antonarakis : 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, 1997.

  28. R D Mallya, P Bhansali, H C Mehta, J J Sheth, K C Dave, D D Santani, R K Goyal : Effect of Nifedipine, Captopril and Enalapril on serum digoxin levels in hypertensive patients with congestive cardiac failure. Ind. J.  Hyperten. 2:  3 -6, 1997.

  29. J. J. Sheth : Serological Diagnosis of Tuberculosis using A60 Antigen by ELISA method : Spectrum : P : 33-36, 1997.

  30. Vaidya R. A., Shringi M., Vaidya A. B., Godse C., Nanavati P., Shah S.S., Talwalkar S. C., Sheth J.J., Walton P. Serum Leptin concentration in Hyperinsulinemic lipodystrophic or non obese patients. JAPI: 47(6):584-588,1999.

  31. J J Sheth : Diabetes, Microalbuminuria and Hypertension : Clin. Exp. Hypertension ,21(1&2),61-68,1999.

  32. J. J. Sheth, P. B. Thakore, B. B. Trivedi, N. N. Shah and Rama Vaidhya : Sub-biochemical Hypothyroidisim : An Exaggerated TSH response to TRH. JAPI ,47(3),275-279,1999.
    .
  33. J. J. Sheth, F. J. Sheth, V R Hyderabadi, K McElreavey, U Radhakrishna : A case of a sex reversed 46, XY female with endodermal sinus tumor : Ind J Hum Genetics. 6(1&2):11-14, 2000.

  34. J J Sheth, and Frenny J Sheth.: Study of anticardiolipin antibodies in repeated abortions- An Institutional experience. Ind J Path Microbiol, 44(2), 117-121, 2001.

  35. J J Sheth, Bhattacharya R, Chauhan R and Sheth FJ: Lysosomal storage disorders: Diagnosis to Therapeutics. Gujarat Med J. 58(3):7-11, 2001.
  • R. A. Vaidya, ADB Vaidya, S. C. Talwalkar, S. D. Mehtalia, MS Shringi, SN Pandey, SJ Shah, C. Godse, JV Joshi, JJ Sheth, VV Kamdar: Clinical, Endocrine and Metabolic studies in the kindred of Familial Partial Lipodystrophy- A syndrome of Insulin Resistance. JAPI,50:773-776,2002 .
  1. J J Sheth, Frenny J Sheth, and Raktima Bhattacharya.: Morquio- B syndrome ( MPS IV B ) accosiated with Beta Galactosidase deficiency in two siblings. Ind J Pediatrics, 69(1):109-111,2002.

  2. J J Sheth, Raktima Bhattacharya and Frenny Sheth. Prenatal diagnosis of Tay Sachs B1 variant in a maharashtrian family. Ind Pediatrics. 39(July 17), 704-706, 2002.

  3. J J Sheth, B S Shah, N I Shah (2002) : Proficiency of Immunoassays in endocrinology : Does anybody Care? Guj Med J 59 : 2.

  4. J J Sheth, Navneet Shah: Thyroid hormone therapy: How to monitor in a clinical practice ?.: Contemporary Medicine, 7:20-23, 2002.

  5. J Sheth and Frenny Sheth: Gene Polymorphism and Folate metabolism: A Maternal risk factor for Down syndrome?. Indian Pediatrics 40(Feb.17) 1-9 : 2003.

  6. F J Vinsheth, J 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.

  7. F J Vinsheth, J J Sheth, A I Patel, R A Vaidya and Alain Verhest: Usefulness of cytogenetics in Leukemias: Ind J Cancer, 39,139-142,: 2003.

  8. Frenny VJ, Antonella Z, Luisa A, Shah AD, Sheth JJ, Rocchi M: Cytogenetics and  Fluorescence In-Situ Hybridization in detection of Hematological Malignancies.  Ind. J Cancer,40 (4), 135-139, 2003.

  9. Jayesh Sheth, Pinaki Patel, Frenny Sheth, Raju Shah: Lysosomal Disorders: Our experience: Ind Pediatrics. 41(3); 260-266, 2004.

  10. Jayesh Sheth, Frenny Sheth, Nayna Pandya, and Rama Vaidya: Recurrent Neural tube Defects (NTD’S) and deficiency of Vitamin B12 beyond Folic Acid: J Obstet  Gynec India: 53(6),596-597,2004.

  11. Sheth Frenny, Sheth Jayesh and Hyderabadi Vaishali: Study of Genetic disorders by chromosome analysis: It’s role in modern era of medicine. Guj Med J.61(1), 9-12, 2004.

  12. Shefali Pandey, Sona Pungavkar+, Rama Vaidya *, Deepak Patkar +, Robert Hegele·, Frenny Sheth ?, Jayesh Sheth ?, Sanjiv Shah*, and Ashok Vaidya*. An Imaging Study of Body Composition Including Lipodeposition Pattern in a Patient of Familial Partial Lipodystrophy (Dunnigan Type). JAPI, 53,897-900, 2005 .

  13. Frenny Sheth, Sheth Jayesh, Alian Verhest.: A three way complex translocation (4;9;22) in two patients with Chronic myeloid leukemia. Journal of Cancer Research and Therapeutics .1(2),108-110. 2005.

  14. R. Kimura, J Sheth, F.Sheth and M.Masuda.: Assessment of the traditional production of the hybrids of Indian wild asses (Equus hemionus Khur) and Female Donkey’s (Equus asinus) in Gujarat, India. In Proceeding 39th Interantional congress of the ISAE, Japan,Page 94. 2005.

  15. Sheth Frenny J, Sheth Jayesh J and Desai Chirag J:  Case of near triploidy with isochromosome 17q in CML: Cancer Genetics and Cytogenetics: 164:177-178. 2006.

  16. Sheth Frenny J, Patel Pinaki, Vaidya Ashok DB, and Sheth Jayesh J: Increased frequency of Sister chromatid exchanges in patients with Type II diabetes: Current Science. 90(2),236-239. 2006.

  17. Sheth Jayesh J, Sheth Frenny J.: Lysosomal storage disorders: From clinical presentation to biochemical confirmation. J of Genetics screening and Health. 1:3-10. 2006.

  18. Uppala R, Uppala R, Mathew G, Soraya B, David H, Jeffrey G, Syed H, Prakash G, Jayesh S, Frenny S, Ghati C, Mohammed N, Jitendra S, Uday P, Dilip M, Rafiq M, Gregory A, Stylianos A, and Swapan N.: Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian Families reveals significant evidence of linkage at 13q33.1-34.. Am.J.Hum.Genet.79:580-585. 2006.

  19. Sheth Jayesh J., Sumant Shah, Dilip Master, Sheth Frenny J.: Prenatal Exclusion of Lamellar Ichthyosis based on two novel mutations in TGM 1 gene: A case report. Ind. J. Dermetol. 51(4): 281-282. (2006).

  20. Jayesh Sheth, Rajesh Joshi, Dilip Master, Frenny Sheth.. Ring chromosome 9 in a dysmorphic child. Ind. J. Pediat. 74(5):507-508. (2007).

  21. Prakash Gambhir, Jayesh Sheth, Frenny Sheth: Syndrome in Focus GM 1 Gangliosidosis. J of Genetics, Screening & Health. 2(1):20-22. 2007.

  22. Sheth FJ., Rao S., Desai MJ., Vin JS., Sheth JJ..: Cytogenetic Analysis of Clinical suspected Down syndrome cases in Gujarat with reference to maternal age risk factor.  Ind. Pediatrics ,Oct, 774-777, 2007.

  23. Frenny J Sheth, Uppala Radhakrishna, Michael A Morris, Jean-Louis Blouin, Jayesh J Sheth, Asha Multani, Stylianos E Antonarakis.. 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),215-218,2007.

  24. Sheth JJ., Sheth FJ., Pooja Pandya., Rashi Priya., Sejal Davla.. Establishment of database for different mutations of ?-globin gene for ?-thalassaemia with respect to different communities in the population of Gujarat. Ind. J of Pediat. 75(6):567-570, 2008 .

  25. Jayesh J Sheth, Frenny J Sheth, Nrupesh Oza: Niemann-Pick Type ‘C’ Disease: A case report. Ind Pediatrics ,45:505-507, 2008.

  26. Sheth Jayesh J., Sheth Frenny J., Oza Nrupesh J., Doshi Minesh H.:Triple maker study in midtrimestor of pregnancy and risk of chromosomal abnormality: An Indian Experience. J Obstet Gynec India. 58(2),142-146. 2008.

  27. Frenny Sheth, Elisabeth Ewers, Nadezda Kosyakova, Anja Weise, Jayesh Sheth, Sushma Patil, Monika Ziegler, Thomas Liehr.) A neocentric isochromosome Yp present as additional small supernumerary marker chromosome – evidence against U-type exchange mechanism? Cytogenetic Genome Research;125:115-116. 2009.

  28. Sheth JJ, Oza N, Mistri M, NAik P, Kumar S, Sheth FJ Mucolipidosis type II (I-Cell) in two children with skeletal abnormality, dysmorphism and hepotasplenomaghaly. Pediatric Oncall (serial online) (cited 2009 May 1); Vol 6, Art#24. Available from: http://www.pediatriconcall.com/fordoctor/casereports/mucolipidosis.asp.2009.

  29. Vinci G, Brauner R, Tar A, Rouba H, Sheth J, sheth F, Ravel C, McElreavy K, Bashamboo A. Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril. 92(4):1347-50. Epub 2009 May 21
  30. Sheth JJ, Patel P, Shah RC, Oza N, Mistry M, Sheth FJ. Prenatal diagnosis of Lysosomal Storage Disorders in India [Under Revision]. (2010).

  31. Jayesh J Sheth, Frenny J Sheth , Nrupesh J Oza, Prakash S Gambhir, Usha P Dave, Raju C Shah.  Plasma Chitotriosidase activity in children with lysosomal storage disorders. Ind J Pediatrics .77:203-205. 2010.

  32. Frenny Sheth, Joris Andrieux, Jayesh Sheth). Marker chromosome in a child with microcephaly and mental retardation characterize by array-CGH as trisomy 18p. Ind. Pediatr.47: 277-279. .2010.

  33. Sheth J, Mistri M, Godbole K, Sheth F Predominanace of Morquio-B (Mucopolysaccharidosis IV – B) in children with skeletal dysplasia. Journal of Pathology and Laboratory Medicine. 2:29-36. 2010 .

  34. Sheth J, Shah H, Sheth F 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, Art#---Available from: www.pediatriconcall.com/fordoctors/Viewers Choice/glaucoma.asp .2010.

  35. Sheth J, Shah U,Sheth F, Shah N, Vaidya R, Vaidya A.: Genoprotective effect of Enicostemma Littorale Blume in type II Diabetic patients shown by single cell gel electrophoresis, sister chromatid exchange and protein oxidation. Ind J Pharmac. (Under revision) (2010).

  36. Sheth Jayesh J: Pompe disease: Symptoms, Diagnosis and Treatment. Int J of Medical and Biological Frontiers. 2010 (In Press).

  37. Saleh Al-Ali Faiza Mohamed; Ratnamala Uppala; Mehta Timir Y; Naveed Mohammad; Al-Ali Mahmoud T; Al-Khaja Najib; Sheth Jayesh J; Master Dilipkumar C; Maiti Amit K; Chetan Ghati K; Nath Swapan K; Radhakrishna Uppala. Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1-1q25.3 region.
    Experimental dermatology 2010;19(9):851-3 .

  38. Sheth HJ, A. Munoz, C. Sergi, J. Pani, J. L. Blouin, Sheth JJ, Sheth FJ (2010). Triple X syndrome in a trisomic Down syndrome child:Both aneuploidies originated from the mother. Int. J. Hum. Genet. [In Press].

 

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:978-1-61761-930-4. Ed. Leon V Berhardt. Nova Science Publishers Inc. 2010.

 


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