CURRICULUM VITAE

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CURRICULUM VITAE
Dr. F Sheth
Present Status
VISITNG PROF. OF BIOL. FACULTY
EDUCATION
Scientist and Additional Director, Cytogenetic and Molecular
Cytogenetic Division
FRIGE’s Institute of Human Genetics
Satellite,
Ahmedabad-380 015
Gujarat, INDIA.
Jaiwaji UNIVERSITY, Gwalior.
2002
European Advance Post Graduate course in Classical and
Molecular Cytogenetics, University of
Montpellier, Nimes, FRANCE.
1990
Ph.D. in Cell Biology
School of Sciences, Gujarat University
Ahmedabad-380 015.
1983
M.Sc. in Applied Biology (By Dessertation)
Sir Harkishandas Hospital, Bombay University
Bombay-400 004.
1980
B.Sc. in Microbiology
M.G.Science College, Gujarat University
Ahmedabad-380 009.
SPECIAL TRAINING ACQUIRED
Oct 2010
Travel fellowship given by ICMR to present paper at 60th
International Meeting of American Society of Human Genetics at
Washington DC. USA.
Sept – Oct. 2008
Comparative Genomic Hybridization array study in leukemia under
the guidance of Dr. Joris Andrieux, Lille, France.
June – Aug. 2006
Multipotent Adult Progenitor Stem cell training at University of
Minnesota, Minneapolis, USA under the guidance of Dr.
Catherine Verfaillie.
January 2006
Stem cell Training at Coriell Institute of Medical Research,
Camden, New Jersey, USA
August 2003
Vysis sponsored hands-on FISH training using Path Vysion, Aneu
Vysion and Uro Vysion FISH probes for the diagnosis of various
genetic disorders at Bangkok.
May 2002 to July 2002
Visited Institute di Genetica, Bari – Italy and worked with Prof. Mariano
Rocchi group for learning FISH techniques for the diagnosis of
Leukemias.
Feb. 2002 to March 2002
European Advance Post Graduate Diploma in classical and Molecular
Cytogenetics, University of Montpellier, Nimes, FRANCE.
June 1999 to August 1999
Visited Microbiology and Biotechnology Division, Uni. Of Geneva
Medical School, Cantonal Hosp. Geneva, Switzerland. Worked
with Prof. S.E. Antonarakis and Prof. Potis Beris group for learning
recent Cytogenetic and Molecular techniques for the diagnosis of
Thalassemia and other Genetic diseases.
January 1998
Attended 4th National Congress and workshop on Prenatal
Diagnosis and Therapy organized by ISPAT.
Dec. 1995 to Jan. 1996
Visited Microbiology and Biotechnology Division, Uni. Of Geneva
to Medical School, Cantonal Hosp. Geneva,
Switzerland. Worked with Prof.S.E.Antonarakis group for learning
recent Cytogenetic and Molecular techniques for the diagnosis of
Genetic diseases.
Nov. 1995 to Dec. 1995
Visited Institute Jules Bordet, Bruxelles. : Worked with Prof. Alian
Verhest Group on Solid tumor and FISH.
November 1994
Attended IIIrd National workshop on Prenatal Diagnosis and
Therapy organized by ISPAT.
December 1993
Pre-Conference Workshop on DNA methodology at International
Conference on Human Genetics and Family Welfare, B.J.Medical
College, Pune City, India
January 1993
UGC-CIDA sponsored training program in computer applications
in Scientific Research, Gujarat University Computer Application
Centre, Ahmedabad.
December 1981
Training in Vaginal Cytology, Cama & Albless Hospital, and
Bombay
May 1981
Training course on peptide hormones and RIA. At Institute for
Research in Reproduction, Bombay.
EXPERIENCE
Dec. 2010
Organized symposium on ‘Genetics in Clinical practice: Diagnosis to
Therapeutics” jointly with IAP on 12th Dec. 2010
Dec. 2009
Organized symposium on “Genetics in Clinical Practice” on 20th Dec.
2009.
Dec. 2008
Organized Winter Workshop on Cytogenetics and Molecular
Cytogenetics at FRIGE, Ahmedabad.
Dec. 07 –Jan 08
Organized workshop “GeneDioT-2007 at FRIGE jointly with GCRI
and Gujarat University, Ahmedabad.
Nov 2008
Organized Winter workshop on Molecular Diagnostics at FRIGE,
Ahmedabad
December 2005
Organized one-day scientific Symposium on “Obesity and Related
Disorders”, in collaboration with IMS, Ahmedabad.
January 2004
Organizing Secretary, 7th National conference and workshops
[Molecular cytogenetic techniques and Antenatal diagnostic
techniques, 20th to 23rd Jan 2004] on Prenatal diagnosis and
Therapy, Organized by Foundation for Research in Genetics and
Endocrinology [FRIGE], Sheth V.S. Hospital, Baroda Medical
College during 23rd to 25th, Ahmedabad, Gujarat. 2004
December 2000
Organized one-day scientific symposium on “Genetic Disorders”,
Ahmedabad
December 2000
Organized Workshop on antenatal diagnosis of Beta- Thalassemia,
Foundation For Research in Genetics and Endocrinology (FRIGE),
Genetics Centre, Ahmedabad.
April 2000 till date
Scientist and Additional Director, Cytogenetic Division. Foundation
for Research in Genetics and Endocrinology [FRIGE], Genetic
Centre, Satellite, Ahmedabad.
April 1996 – March 2000
SENIOR SCIENTIST, Foundation for Research In Genetics and
Endocrinology, (FRIGE), Genetics Centre, 20/1, Bimanagar, Satellite,
Ahmedabad-380 015, India.
October 1994 to March 1996
JUNIOR SCIENTIST, Foundation for Research In Genetics and
Endocrinology, (FRIGE), Genetics Centre, 20/1, Bimanagar, Satellite,
Ahmedabad-380 015, India.
January 1992 to September 1994
RESEARCH ASSOCIATE, Cell Biology Division, Zoology
Department, Gujarat University, Ahmedabad-380 009, India.
COLLABORATION
*Gene Identification open angular Glaucoma with Duke University
[Project completed]
*Polymorphism of inversion Y: Pasteur Institute, Prof Ken
MacElreavy
*Gene Polymorphism and Folate Metabolism in mothers with
Down syndrome child, with Dr James Jill, Toxicological Research
centre, Arkansas, USA [Project completed]
*Study of LAMIN gene mutation in large Indian Family with
Familial Partial Lipodystrophy: Prof Robert Hegle, Canada
[Project completed]
*Study of Homocysteine and Thiol in young adults as a risk factor
for cardiovascular disorders [Project completed]
*Revaluation of the traditional production of the hybrid of the
Indian wild ass (Equus hemionus khur) and the female donkey (E.
asinus) in Gujarat, India. The study of Karyotype in hybrid of the
Indian wild ass [Project completed].
*Study of DNA damage in Type II diabetes. CSIR-NMITLI Project
[Project completed].
LIFE MEMBERSHIP
*American Society of Human Genetics
*European Cytogenetic Association
*Indian Society of Human Genetics.
*Indian Society for Prenatal Diagnosis and Therapy.
*Indian Association of Cancer Research
*Indian Society of Cell Biology.
*Indian Society of clinical, Pharmaceutical and Therapeutics
FOUNDER TRUSTEE
Foundation For Research In Genetics And Endocrinology
(FRIGE).
REVIEWER
Indian Pediatrics
Indian Journal of Medical Research
Indian Journal of Cancer Research and Therapeutics
Mutation Research
International Journal of Medicine and Medical Sciences
Indian Journal of Cancer
International Journal of General Medicine
INVITED TALK
June 2011
Basics of Genetics and Important cases in RFL at IMA, Godhara
Dec. 2010
Array-CGH – A newer tool of identifying genomic imbalance in
children with MCA
Dec. 2009
Role of Molecular Cytogenetics and CGH array in children with
multiple congenital anomalies
July 2009
Cytogenetic and Molecular cytogenetic study in clinical practice.
Shimla
March 2009
Scope of cytogenetics in cancer diagnosis and treatment. Muni
Sevashram Cancer hospital, Goraj, Gujarat.
February 2009
Cytogenetic study in clinical practice. Symposium on Genetic
Disorders. Dept of Pharmaceuticals, Saurastra University, Rajkot.
Molecular cytogenetics in Leukemias. Symposium on Genetic
Disorders. Dept of Pharmaceuticals, Saurastra University, Rajkot.
September 2008
Triple Marker followed by either AF, CVS – what are the lessons?
CME, Gyenac. Association. Baroda
February 2007
Clinical Application of Cytogenetics, CME of Hematological
malignancies, AMA, Ahmedabad.
January 2006
Cytogenetics aspects in clinical practice. Baroda
November 2005
Decision-making in pregnancy – Cytogenetic aspects. CME
program at Palanpur.
April 2004
Basic of Genetics. Iladevi Cataract and amp IOL Research
Centre, Ahmedabad
May 2004
When and why to ask for genetic study and
Triple Marker Study-Its role in Prenatal Diagnosis. Gwalior
November 2002
Usefulness of cytogenetic study in day-to-day medical practice.
CME Programme of Memnagar-Ghatlodia Medical Association.
Ahmedabad
July 2002
Usefulness of Cytogenetics in Medical Practice. At CME
Programme of Obstetric and Gynecology Society Bharuch wing.
Gujarat.
April 2001
Recent advances in Genetics At Daman Medical Association,
Daman. Gujarat
December 1999
Molecular Biology and Its Clinical application: 6th Annual
Conference of Association of Chest Physicians of Gujarat,
Mt.Abu, Rajasthan.
June 1997
Trends in Genetics: The Ahmedabad GP Society CME.
December 1996
Genetic study in Genodermatosis:
Conference of IADV&L, GSB.
August 1996
Laboratory investigations for metabolic disorders and
chromosomal analysis: Post Graduate Revision course for
Pediatrics.
June 1995
Laboratory diagnosis in spontaneous abortion: The Ahmedabad
Obstetrics and Gynecological society
PRESENTATIONS
>110 papers presented at National and International Conferences
at
XXI
Annual
State
HONORS & AWARDS
2010
Travel award given by ICMR to present the research article at 60th
Annual Meeting of ASHG, 2nd to 6th Nov. Washington DC. USA.
2008
UICC – ICRETT, Visited Laboratory of Medical Genetics, CHRU,
Lille, France and worked with Dr. Joris Andrieux group for
learning Comparative Genomic Hybridization array study in
leukemia
2006-2007
Biography included and published by Marqui’s Who is Who in the
Medicine and HealthCare
October 2004
Award given by Fanconi Anemia Research Fund to present the
research article at 16th Annual International Fanconi Anemia
Scientific Symposium, 14th to 17th Oct. Boston, USA.
March 2003
European Cytogenetic Association fellowship for Candidate of
Excellence.
August 2002
Fellow - UICC
May 2002 to July 2002
UICC – ICRETT Visited Institute di Genetica, Bari – Italy and
worked with Prof. Mariano Rocchi group for learning FISH
techniques for the diagnosis of Leukemias
January 1992 to September 1994
Research Associate. Council of Scientific and Industrial
Research, New Delhi. Human Genetic & Reproduction Unit,
Department of Zoology, Gujarat University, Ahmedabad.
March 1988 to February 1990
Senior Research Fellow. Council of Scientific and Industrial
Research, New Delhi. Human Genetic & Reproduction Unit
Department of Zoology Gujarat University, Ahmedabad.
April 1987 to February 1988
Junior Research Fellow. University Grants Commission (UGC),
Govt. of India. New Delhi sponsored DSA (Department of Special
Assist.) program. Human Genetic & Reproduction Unit,
Department of Zoology, Gujarat University, Ahmedabad.
September 1985 to March 1987
Senior Research Fellow. UGC-DSA Program, Human Genetic &
Reproduction Unit, Department of Zoology, Gujarat University,
Ahmedabad.
September 1983 to August 1985
Junior Research Fellow. UGC-DSA Program, Human Genetic &
Reproduction Unit, Department of Zoology, Gujarat University,
Ahmedabad
June 1983 to August 1983
Senior Research Assistant. Tissue Culture
GujaratCancer & Research Intuit. Ahmedabad.
February 1983 to May 1983
Senior Research Assistant. Nuclear Medicine Centre, Nanavati
Hospital, Bombay.
January 1982 to January 1983
Project Assistant. Cytology Laboratory, Cama & Albless Hospital,
Bombay.
December 1980 to December 1981
Assistant. Cama & Albless Hospital, Bombay.
Laboratory,
Ongoing Research Projects
 Mutation study of the prevalent lysosomal storage disorders in India and extension of lysosomal enzyme
study.
ICMR, India
Role: Co-I
Completed Research Projects
 Preparation and standardization of FISH probes for various genetic disorders and extension of services
in Gujarat.
DBT, India.
Role: PI
 Study of LSDs in children with regression of milestone.
ICMR, India
Role: Co-I
 Herbal Based preparations for degenerative disorders: Type II [NIDDM] diabetes Mellitus with emphasis
on Insulin Sensitization and Herbo print-are tool for standardization for herbal medicine. CSIR-NMITLI,
India
Role: Co-coordinating Genotoxicity study of Type II diabetes
LIST OF PUBLICATIONS
1. J Sheth, A Sheth, F Vin (1983). Bioreactive and immunoreactive inhibin like substance in human fetal
gonads. J. Bio. Res. Preg. 4(3):110.
2. J Sheth, F Sheth, R Banker, B Shah, R Nadkarni, N Shah (1987). Premature ovarian failure: J. Obstet.
Gynec. India. 37:557-580.
3. J Sheth, P Thakore, S Shah, B Shah, N Shah, F Sheth (1989). A newer avenue for evaluation of thyroid
dysfunction: JAPI. 37:703-704.
4. N Chinoy, V Shah, H Highland, F Sheth, S Murthy (1984). Semen analysis in some cases of human
infertility. Ibid, 83 – 87.
5. F Sheth, V Shah, N Chinoy, A Multani, S Murthy, H Highland, U Radhakrishna (1988). Repeated fetal
loss in referred cases: A study on 14 couples with spontaneous abortion. Ind. J. Obstet. Gynec.
38(3):274-277.
6. V Shah, N Chinoy, F Sheth, S Murthy, A Multani, G Shah, G Banker, A Patel (1990). Cytogenetics of
Human Sex Variants: In Genetical Research. In collection of article, BARC, Bombay. 228-230.
7. U Radhakrishna, V Shah, H Highland, N Chinoy, F Sheth (1990). A triple-X female with long arm
deletion of one of the X-chromosomes associated with primary amenorrhoea; 47,XX,+del (X)(q27.3).
Annales de Genetique. 34:40-43.
8. V Shah, F Sheth, N Chinoy, S Murthy, A Multani, U Radhakrishna, G Shah, G Banker, A Patel (1990).
Human Sex Determination and Development. Everyman’s Science. 224-228.
9. J Sheth, F Sheth (1992). Hyperprolactinemia: A common endocrine thread in infertility. J. Obstet.
Gynecol. of India. 42(3):366-369.
10. F Sheth, U Radhakrishna, A Multani, V Shah, N Chinoy (1991). A female with Isodicentric X
chromosome idic (Xq) associated with ovarian dysgenesis. Ind. J Pediatr. 61(2):189-192.
11. A Multani, U Radhakrishna, F Sheth, V Shah, N Chinoy (1992). Translocation (22:22) (p11.1:q11.1) and
NOR studies in a female with a history of repeated fetal loss. Annales de Genetique. 35(2):105-109.
12. F Sheth, A Multani, N Chinoy (1994). Sister Chromatid Exchanges: A study in flurotic individuals of North
Gujarat. Fluoride 27(4):215-219.
13. V Shah, N Chinoy, F Sheth, A Multani, V Smart (1994). Human Chromosome Y - Why? Perspective in
Cytology and Genetic.8.
14. J Sheth, F Sheth, H Patel (1995). Alpha-Feto Protein (AFP)- A marker for prenatal diagnosis of birth
defects. Ind. J. Clin. Pract. 5(9):87-89.
15. F Sheth, A Multani, V Shah, N Chinoy (1995). Fetal malformations caused by amnion rupture: A case
report. Indian Journal of Pediatrics. 62:381-383.
16. F Sheth, U Radhakrishna, A S Multani, V Shah, N Chinoy (1995). Acrocentric chromosome association
in couples with repeated fetal loss. IJOG 6(1):66-70.
17. F Sheth, A S Multani, J Sheth, U Radhakrishna, V Shah, N Chinoy (1996). Incomplete gonadal
dysgenesis: A case report. Urologia Internationalis. 56: 57-60.
18. J Sheth, F Sheth, B S Shah (1996). Laboratory diagnosis of Cushing syndrome. Ind. J. Clin. Prac. 6(11),
April. 17-21.
19. A S Multani, F Sheth, V Shah, N Chinoy, S Pathak (1996). Three siblings with Harlequin Ichthyosis in an
Indian family. Early Human Development 45:229-233.
20. F Sheth, V R Hydrabadi, J Sheth, H A Patel, D M Shah (1996). Sex chromosomal Mosaicism and
secondary amenorrhoea: A case report. Ind. J. Obstet. Gynec. 423-425
21. A Multani, U Radhakrishna, F Sheth, V Shah, N Chinoy, S Pathak (1996). Maternal Inheritance of 10/15
translocations in a female with bad obstetric history. Brazelian J. Gene. 19(3):497-500.
22. U Radhakrishna, J Blouin, H Mehenni, T Mehta, F Sheth, J Sheth, J Solanki, S Antonarakis (1997). The
gene for autosomal dominant hydrotic ectodermal dysplasia (Clouston syndrome) in a large family maps
to the pericentromeric region of chromosome 13q11-q12.1. Am. J. Med. Genet. 71:80-86.
23. F Sheth, V Hyderabadi, J Sheth (1997). Genetic variation in genodermatosis. Quaterderm 10(40):1-11.
24. F Sheth (1999). A case of Down 47,XY,t(11;21)(q13.3;p13)+21 in Brain Tickler column of The J
Association of Genetic Technologist 25:3.
25. J Sheth, F Sheth, V Hydrabadi, K McElreavey, U Radhakrishna (2000). A case of sex reversal 46,XY
female with endodermal sinus tumor. Ind. J Hum Genet. 6(1&2):11-14.
26. J Sheth, F Sheth (2001): Study of Anticardiolipin antibodies in repeated abortions-An Institutional
Experience: Ind J Path. Microbiol. 44(2):117-121
27. J Sheth, R Bhattacharya, F Sheth (2001) Lysosomal storage disorders: Diagnosis to therapy. Gujarat
Med. Journal. 58(3):7-11.
28. J Sheth, F Sheth, R Bhattacharya (2002): Morquio B Syndrome (MPS IVB) with Beta Galactosidase
deficiency in two siblings. Ind. J. Ped. 68:109-111.
29. J Sheth, R Bhattacharya, F Sheth (2002): Prenatal Diagnosis of Tay Sach B1 variant in Maharastrian
Family. Ind. Ped. 39:704-706.
30. J Sheth, F Sheth. (2003): Gene Polymorphism and Folate metabolism: A maternal risk factor for Down
syndrome. Indian Pediatrics. 40:1-9.
31. F Sheth, J Sheth, A Patel, A Shah, A Verhest (2002): Usefulness of cytogenetics in leukemias. Ind. J.
Cancer. 39:133-136.
32. F Sheth, J Sheth, V Hyderabadi, K McElreavey, C Krasz (2003). Cytogenetic and Molecular study in
46,XY female. J Obstet Gynec India. 53(4):398-400.
33. F Sheth, A Zagaria, L Anelli , A Shah, J Sheth, M Rocchi (2003). Role of Cytogenetic and Fluorescence
In-Situ Hybridization in detection of Hematological Malignancies. Ind. J. Cancer. 40(4):35-139.
34. J Sheth, P Patel, F Sheth, R Shah (2004). Lysosomal Disorders: Our experience: Ind Pediatrics. 41(3):
260-266.
35. 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.
36. F Sheth, V Hyderabadi and J Sheth (2004). Study of Genetic disorders by chromosome analysis: It’s
role on modern era of medicine. Guj. Med J. 61(1):9-12.
37. A Patel, R Adesara, S Prajapati, V Patel, A Kaur, S Kanvinde, N Patel, V Patel, D Shah, D Rathod, F
Sheth. (2004). Diagnostic value of bone marrow Examination. Guj. Med. Journal 61(2):11-15.
38. S Pandey, S Pungavkar, R Vaidya, D Patkar, R Hegele, F Sheth, J Sheth, S Shah, Ashok Vaidya
(2004). An Imaging Study of Body Composition Including Lipodeposition Pattern in a Patient of Familial
Partial Lipodystrophy (Dunnigan Type). JAPI. 53:897-900.
39. F Sheth, J Sheth, A Verhest (2005). A three way complex translocation (4;9;22) in two patients with
Chronic myeloid leukemia. Journal of Cancer Research and Therapeutics. 1(2):110-112.
40. F Sheth, P Patel, A Vaidya, R Vaidya, J Sheth (2006). Increased Frequency of Sister Chromatid
Exchanges In Patients with Type II Diabetes. Current Science. 90(2):236-239.
41. F Sheth, J Sheth, C Desai. (2006) Case of near triploidy with isochromosome 17(q). Cancer Genetics
Cytogenetics. 164(2):177-178.
42. J Sheth, F Sheth (2006). Lysosomal storage disorders: From clinical presentation to biochemical
confirmation. J of Genetics screening and Health. 1:3-10.
43. F Sheth, N Soni. (2006) Ring chromosome 14 in a child with epilepsy and development delay. Ind.
Pediat. 43:744-745.
44. 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. Dermatol. 51(4):281-282.
45. 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.
46. J Sheth, R Joshi, D Master, F Sheth (2007). Ring chromosome 9 in a dysmorphic child. Ind. J. Pediat.
74: 507-508
47. P Gambhir, J Sheth, F Sheth (2007). Syndrome in Focus GM1 Gangliosidosis: Journal of Genetics,
Screening and Health. 2(1):20-22.
48. F Sheth, S Rao, M Desai, J Vin, J Sheth (2007). Cytogenetic Analysis of Clinical suspected Down
syndrome cases in Gujarat with reference to maternal age risk factor. Ind Pediatr 44:774-777.
49. F Sheth, U Radhakrishna, M Morris, M Shah, B Louis, J Sheth, S Antonarkis (2007). Cytogenetic,
Molecular and FISH Analysis of an Isodicentric Chromosome 21 idic(21)(q22.3) in a Mildly-Affected
Patient with Down Syndrome. Int J Hum Genet. 7(3):215-218.
50. J Sheth, F Sheth, N Oza, M Doshi (2008). Triple maker study in midtrimester of pregnancy and risk of
chromosomal abnormality: An Indian Experience. Ind. J Obstet. Gynec. 58(2):142-146.
51. J Sheth, F Sheth, N Oza (2008). Niemann-Pick Type ‘C’ Disease: A case report. Ind. Peditr. 45: 505-507
52. 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 Pediatr. 75(6):567-570.
53. F Sheth, J Sheth, A Sodhan (2009). Double aneuploidy in a child with Down Syndrome Ind. Pediatr. 46:
359-360.
54. 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. Pediatriconcall Vol-6, Art 24, 29-29.
55. G Vinci, R Brauner, A Tar, H Rouba, J Sheth, F Sheth, C Ravel, K McElreavey, A Bashamboo (2009).
Mutations in the TSPYL1 gene associated with 46,XY DSD and male infertility. Fertility Sterility
92(4):1347-1350.
56. J Andrieux, F Sheth (2009). CGH-Array study and its utility in children for detection of Constitutional and
Acquired anomalies. Ind J Exp Biol. 47:779-791.
57. 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
U-type exchange mechanism? Cytogenetic Genome Research 125(2):115-116.
58. F Sheth, E Ewers, N Kosyakova, A Weise, J Sheth, M Desai, J Andrieux, J Vermeesch, M Ziegler, T
Liehr (2009). Small supernumerary marker chromosome present in a Turner syndrome patient not
derived from X- or Y-chromosome – a case report. Molecular Cytogenet 2: 22.
59. J Sheth, F Sheth, N Oza, P Gambhir, U Dave, R Shah (2010). Plasma Chitotriosidase activity in children
with lysosomal storage disorders. Ind J Pediatr. 77:203-205.
60. F Sheth, J Andrieux, J Sheth (2010). Marker chromosome in a child with microcephaly and mental
retardation. Ind Pediatr. 47:277-279.
61. J Sheth, M Mistri, K Godbole, F Sheth (2010). Predominance of Morquio-B (Mucopolysaccharidosis IVB) in children with skeletal dysplasia. Journal of Pathology and Laboratory Medicine. 2:29-36.
62. J Sheth, H Shah, F Sheth (2011). Infantile Glaucoma with coarse facial features as an early complication
of Hurler-Scheie. Pediatric oncall. Pediatric oncall 8(1):22-23.
63. F Sheth, J Andrieux, E Ewers, N Kosyakova, A Weise, H Sheth, S Romana, M Lorch, B Deloben, O
Theisen, T Liehr, S Numpoothiri, J Sheth (2011). Characterization of sSMC by FISH and molecular
techniques. Euro J Med Genet. 54:247-255.
64. H Sheth, 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
65. J Sheth, U Shah, F Sheth, N Shah, R Vaidya, A Vaidya (2011). Genoprotective Effect of Indian Gentian
in Type 2 Diabetes Mellitus (T2DM): Comet Assay, Sister Chromatid Exchanges and Protein Oxidation
Studies. IJHG 11(2):83-88.
66. F Sheth, J Pani, M Desai, S Mehta, J Sheth (2011). Single Cell Abnormality in Couples with Bad
Obstetric History and Repeated Fetal Loss: Occurrence and Clinical outcome. IJHG 11(4):271-276.
67. F Sheth, U Shah, M Desai, J Sheth (2011). Clinical Profile of Inversion Y in People of Gujarat, West
India. IJHG 11(4):245-248.
68. J Sheth, M Mistri, M Kamate, S Vaja, F Sheth (2012). Diagnostic strategy for Mucolipidosis II/III. Indian
Pediatr. 49(12):975-977.
69. M Mistri, P Tamhankar, F Sheth, D Sanghavi, P Kondurkar, S Patil, S 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): e39122. doi:10.1371/journal.pone.0039122
70. 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 Report in Genetics, Article ID 428075, 4 pages.
doi:10.1155/2012/428075
71. M Othman, A Lier, S Junker, P Kempf, F Dorka, E Gebhart, F Sheth, B Grygalewicz, S Bhatt, A Weise.
K Mrasek, T Liehr, M Manvelyan (2012). Does positioning of chromosomes 8 and 21 in interphase drive
t(8;21) in acute myelogenous leukemia? BioDiscovery; 4:2; DOI: 10.7750/BioDiscovery.2012.4.2
72. 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.:878796. doi:
10.1155/2012/878796.
73. 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 Reports in
Genetics. vol. 2012, Article ID 153405, 4 pages, doi:10.1155/2012/153405
74. F Sheth, M Kaul (2013). Diagnostic dilemma in overlapping congenital syndromes. Ind Pediatr 50:157158.
75. R Asadollahi, B Oneda, F Sheth, S Azzarello-Burri, R Baldinger, P Joset, B Latal, W Knirsch, S Desai, A
Baumer, G Houge, J Andrieux, A Rauch (2013). Dosage changes of MED13L further delineate its role in
congenital heart defects and intellectual disability. EJHG 21(10):1100-1104.
76. K Mampilly, T mampilly, N Chandramohan, M Velayutham, J Sheth, F Sheth, V Janaki (2013). Prenatal
Dolichocephaly: Sign of Trouble? – A variant of Miller Dieker Syndrome. Fetal and Pediatric Pathology,
32(4):308-311.
77. H Shah, F Sheth, V Pandit, B Langanecha (2013). Bloom Syndrome: report of two cases in siblings.
International Journal of Dematology. 52(8):990–992,
78. 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. Indian Pediatrics. 50:591-593.
79. J Sheth, M. Mistri, F Sheth, R. Shah, A. Bavdekar, K. Godbole, N. Nanavati, 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 facility. Journal of Inherited Metabolic
Disease. JIMD Reports12:51-64.
80. 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. Jul 1; 6(1):
24. doi:10.1186/1755-8166-6-24
81. 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);
415-422.
82. F Sheth, H Sheth, P Kumari, 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
83. C Ankleshwaria, M Mistri, A Bavdekar, M Muranjan, U Dave, P Tamhankar, V Khanna, E Jasinge, S
Nampoothiri, S Kumar, F Sheth, S Gupta, J Sheth (2014). Novel mutations in the Glucocerebrosidase
gene of Indian patients with Gaucher disease. Journal of Human Genetics 59:223-228.
doi:10.1038/jhg.2014.5
Books/Chapter:
1. Role of Fluorescence In-Situ Hybridization in Prenatal Diagnosis. In Prenatal Diagnosis, Scientific manual.
Publ. ISPAT, Pp. 19-24. 2006
2. Lysosomal storage disorders: Less common but common metabolic disease. In Prenatal Diagnosis,
Scientific manual. Publ. ISPAT, Pp.152-162. 2006.
3. 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
Posters:
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