Publications

Publications

  1.  Patel ZM, Dalal SJ and Ambani LM. Occipital encephalocele in goldenhar syndrome. J Assoc Med Women India 109-111, 1978.
  2. Ambani LM, Patel ZM, Narsinga Rao BS, Mehta BC and Masketi BT. Homocystinuria – response to pyridoxine therapy. J Assn Phys India 27 : 713-717, 1979.
  3. Patel ZM and Ambani LM. Antenatal diagnosis of genetic diseases. JAssoc Med Women India 69 : 102-106, 1979.
  4. Patel ZM and Ambani LM. Carpenter Syndrome (ACPS II) J Assoc Phy India 27, 1979.
  5. Patel ZM and Ambani LM. I-cell disease. J Inherit Metab Dis 2 : 35-37, 1979.
  6. Krishnamurthy DS, Patel ZM and Ambani LM. Trisomy 18q:46,XX, 13Q+t (13:18) (q32:q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translolocation 46, XY,-13+der (13),t(13:18)(q32:q11). Clin Genet 18 : 233-238, 1980.
  7. Patel ZM and Ambani LM. Carpenter Syndrome (ACPS-II).J Assoc Physicians India 28 : 150-151, 1980.
  8. Patel ZM, Ambani LM, Shridhar S, Gokarn VV and Joshi UM. Antenatal diagnosis of congenital adrenal hyperplasia (A case report). Indian Pediatr 17 : 833-836, 1980.
  9. Patel ZM, Krishnamurthy DS and Ambani LM. Roberts Syndrome. J Assoc Med Women India 70 : 63-66, 1980.
  10. Bajaj RT, Patel ZM, Ambani LM, Narasinga Rao BS and Merchant SM. Dietary therapy in a case of phenylketonuria in India. Indian J Pediatr 48 : 175-178, 1981.
  11. Dhareshwar SS, Mehta KP, Patkar SL, Patel ZM and Ambani LM. Chondrodysplasia Punctata. Indian Pediatr 18 : 410-412, 1981.
  12. Dhareshwar SS, Patel ZM and Ambani LM. William syndrome. Indian J Pediatr 48 : 183-188, 1981.
  13. Krishnamurthy DS, Patel ZM, Khanna SA, Dhanthi V and Ambani LM. Frequency of trisomy 21, translocation, mosaicism and familial cases of Down’s Syndrome in Bombay. Indian J Med Res 73 : 218-222, 1981.
  14. Moghe MS, Patel ZM, Peter JJ and Ambani LM. Cytogenetic studies in a selected group of mentally retarded children. Hum Genet 58 : 184-187, 1981.
  15. Moghe MS, Patel ZM, Peter JJ and Ambani LM. Monosomy 22 with mosaicism. J Med Genet 18 : 71-73, 1981.
  16. Patel ZM, Ambani LM, Gokarn VV, Chen Hu Si, Merchant SM and Dalal SJ. Mixed gonadal dysgenesis with OX/XY mosaicism in child withAmbiguous genitalia. J Assoc Med Women 71 : 49-51, 1981.
  17. Patel ZM, Ambani LM, Shah P, Sheth AR and Merchant SM. Normocalcemic pseudohypopara thyroidism (Type II). Indian Pediatr 18 : 828-832, 1981.
  18. Patel ZM, Iyer SS, Khatkatey MI, Mandlekar A, Baxi AJ, Pai RR, Joshi UM and Ambani LM. Prenatal diagnosis of Meckel Syndrome. Indian Pediatr 18 : 762-763, 1981.
  19. Samuel AM, Krishnamurthy DS, Kadival CV, Patel ZM, Mehta MN, Ganatra RD and Ambani LM. Thyroid function studies in young Down’s syndrome. Indian J Med Res 73 : 223-227, 1981.
  20. Shah KN, Patel ZM, Desai AP, Kulkarni MV and Ambani LM. Campomelic syndrome in phenotypic females with 46, XY chromosomes. Evidence of genetic heterogeneity. Clin Pediatr 20 : 214-216, 1981.
  21. Patel Zareen M, Iyer SS, Ambani LM, Suchak RH and Aggarwal RP, GM gangliosidosis Type II. Indian Pediatr 19 : 185-187, 1982.
  22. Patel ZM, Rao CS, Gokaran VV, Dalal SJ and Ambani LM. Ambiguous Genitalia in male infant with persistent mullerian structure syndrome. Indian Pediatr 19 : 943-945, 1982.
  23. Gokarn VV, Peter JJ, Patel ZM and Ambani LM. Partial trisomy for long arm of 18 in 6 month old child with multiple congenital anomalies – A case Report. J Assoc Med Women India 73 : 11-13, 1983.
  24. Mulye VR, Ambani LM, Patel ZM, Pai RR and Mandlekar A. Prenatal diagnosis of Cat-cry (5p-) Syndrome. Indian Pediatr 20 : 201-203, 1983.
  25. Patel ZM, Shah HL, Madon PF and Ambani LM. Prenatal diagnosis of lethal osteogenesis imperfecta (OI) by ultrasonography. Prenat Diagn 3 : 261-263, 1983.
  26. Patel ZM, Ambani LM, Dalal SJ, Gokarn VV, Desai MP, Rao CS, Suchak RH and Joshi UM. Ambiguous Genitalia. Indian Pediatr 20 : 279-284, 1983.
  27. Varadkar A, Mahale S, Suchak R, Patel ZM, Dhareshwar S and Ambani LM. GM2 gangliosidosis, Type 2 (Sandhoff disease). A case Report. Indian Pediatr 20 : 302-305, 1983.
  28. Ambani LM, Patel ZM, Dhareshwar SS, Krishnamurthy DS, Moghe M, Mulye VR, Gokarn V, Peter JJ, Shah LP and Merchant SM. Clinical, biochemical and cytogenetics studies in mental retardation. Indian J Med Res 79 : 384-391, 1984.
  29. Shikary ZK, Betrabet SS, Patel ZM, Patel S, Joshi JV, Toddywalla VS, Toddywalla SP, Patel DM, Jhaveri K and Saxena B. ICMR task force study on hormonal contraception : Transfer of levo norgesterone (LNG) administered through different drug delivery systems from the maternal circulation into the new born infants circulation via breast milk. Contraception 35 : 477-486, 1987.
  30. Patel SB, Toddywalla VS, Betrabet SS, Kulkarni RD, Patel ZM, Mehta AC and Saxena BN. At what “infant age” can levo-norgestrel contraceptives be recommended to nursing mothers ? Adv Contrecept 10 : 249-255, 1994.
  31. Toddywalla VS, Patel ZM, Patel SB, Betrabet SS and Saxena BN. Long term effects of maternal low dose progestrogenic contraceptives on their nurslings. J Obstet Gynec India 44 : 426-429, 1994.
  32. Menon SR, Patel ZM, and Khatkhatey MI. Development and validation of an ELISA for hemoglobinA2 – a novel method for Thalassaemia screening. J Immunoassay Immunochem 25 : 135-146, 2004.
  33. Patel ZM, and Madon PF. Interchange trisomy 22 in a live born resulting from 3:1 segregation in a t(15:22) (pl2:q13) carrier mother. Ind J Pediatr 71 : 1042, 2004.
  34. Patel ZM and Adhia RA. Tel Hashomer camptodactly syndrome with hirsuitism in an Indian family. J Assoc Phys India 52 : 837-838, 2004.
  35. Patel ZM, Adhia RA: Birth defects surveillance programme. In J Pediat 72: 489-491, 2005.
  36. Ravindran SM, Patel ZM, Adhia RA, D’souza AK and Babu S. Validity of analysis of FMRP expression in blood smears as a screening test for Fragile X Syndrome in the Indian population. J Clin Lab Anal 19: 120-123, 2005.
  37. Ravindran SM, Patel ZM, Khatkhatay MI, Dandekar SP. Beta–Thalassemia screening by ELISA HbA2, J Clin Lab Anal 19: 22-25, 2005.
  38. Gawde HM, Patel ZM, Khatkhatey M I, D’Souza A, Babu S, Adhia R, Kerkar P: Ascertainment of chromosome 22 microdeletion by fluorescence in situ hybridization (FISH) in isolated congenital heart disease (CHD) An Indian experience. Ind J Pediatr 73: 885-888, 2006.
  39. Patel ZM, Gawde HM, Khatkhatay MI: 22q11 microdeletion studies in the heart tissue of an abortus involving a familial form of congenital heart disease. J Clin Lab Anal 20: 160-163, 2006.
  40. RameGowda S, Gawde HM, Hyderi A, Mysore RS, Patel ZM, Krishnamurthy B and Ramachandra N B. De Nova isochromosome 18p: Is advanced mother age a causative factor? J Appl Genet 47: 394-401, 2006.
  41. Chatterjee S, Modi DN, Maitra A, Kadam S, Patel ZM, Gokral JS and Meherji PK. Screening for FOXL2 gene mutations in women with premature ovarian failure: an Indian experience. RBM Online 15: 555-560, 2007.
  42. Patel ZM and Menon SR. Preimplantation genetic diagnosis – Current and emerging trends. J Genet Screen Hlth 2: 3-8, 2007.
  43. Patel ZM and Menon SR. A simple test for diagnosis of Fragile X Syndrome by analysis of expression of FMRP in blood smear an ideal choice for screening Indian population. J Genet Screen Hlth 2: 14-18, 2007.
  44. Patel ZM, Adhia RA, D’Souza AK and Babu S. Diaphragmatic hernia with hydrocephalus associated with fetal nonmosaic Trisomy 9. J Genet Screen Hlth 2: 5-7, 2007.
  45. Abid S, Maitra A, Meherji PK, Patel ZM, Kadam S, Shah J, Shah R, Kulkarni V, Baburao V and Gokral JS. Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral centre In India. J Clin Lab Anal 22: 29-38, 2008.
  46. Patel ZM, D’Souza AK, Shiny B, Gawde H, Adhia RA, Sanghavi DA. Down syndrome in Mumbai. J Genet Screen Hlth 3: 5-11, 2008.
  47. Patel ZM, Gawde H, Adhia RA, D’Souza AK, Shiny B. Clinical cytogenetic analysis of seven cases with XX karyotype and ambiguous genitalia. J Genet Screen Hlth 3: 12-18, 2008.
  48. Patel ZM, Gawde HM, Babu S, D’ Souza AK, Adhia RA and Redij S. Lack of subtelomeric rearrangement in couples with recurrent spontaneous abortions. J Genet Screen Hlth 3: 17-21, 2008
  49. Singh N, Golani A, Patel ZM and Maitra A. Transfer of Isoniazid from circulation to breast milk in lactating women on chronic treatment for tuberculosis. British J Clin Pharmacol 65: 418-422, 2008.
  50. Chatterjee S, Maitra A, Kadam S, Patel Z, Gokra1 J and Meherji P. CGG repeat sizing in the FMR1 gene in Indian women with Premature Ovarian Failure. Reprod Biomed Onl 19: 281-286, 2009.
  51. Achrekar SK, Modi DN, Meherji PK, Patel ZM and Mahale SD. Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorhea. J Assis Reprod Genet 27: 317-326, 2010.
  52. Patel ZM, Gawade HM, Babu S, D’Souza AK, Adhia RA and Redij S. Lack of subtelomeric rearrangement in couples with recurrent spontaneous abortions. J Genet Screen Hlth 4: 46-48, 2010.
  53. Gowda S, Gawde HM, Hyderi A, Savitha MR, Krishnamurthy B, Karat SC, Doddaiah N, Patel ZM and Ramachandra NB. Chromosomal anomalies and congenital heart disease in Mysore, South India. Intl J Hum Genet 10: 131-139, 2010.
  54. Das DK, Sanghavi D, Gawde H, Idicula-Thomas S, Vasudevan L. Novel homozygous mutations in Desert Hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods. Eur J Med Genet 54: e529-34, 2011
  55. Mallia JV, Das DK and Maitra A. Role of HLA in human pregnancy. Intl J Human Genetics 12: 33-36, 201256. Gutte R, Sanghvi S, Tamhankar P, Khopkar U. Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions. Indian Dermatol Online J 3(2):148-9, 2012.
  56. Mistri M, Tamhankar PM, Sheth F, Sanghavi D, Kondurkar P, Patil S, Idicula-Thomas S, Gupta S, Sheth J. Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. PLoS One. 7(6):e39122, 2012
  57. Vasudevan L, Joshi R, Das DK, Rao S, Sanghavi D, Babu S, Tamhankar PM. Identification of novel mMutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: A first report from India. J Clin Res Pediatr Endocrinol 5:121-124, 2013.
  58. Tamhankar PM. Molecular Diversity in Genetic Hematological syndromes in India. Indian J Hematol Blood Transf 29:271-272, 2013.
  59. Das DK, Mehta B, Menon SR, Raha S and Udani V. Novel mutations in Cyclin-Dependent Kinase-Like 5 (CDKL5) gene in Indian cases of Rett Syndrome. Neuromol Med 15:218–225, 2013
  60. Vasudevan L, Joshi R, Das DK, Rao S, Sanghavi D, Babu S, Tamhankar PM. Identification of novel mMutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: A first report from India. J Clin Res Pediatr Endocrinol 5:121-124, 201
  61. Das DK, Raha S, Sanghavi D, Maitra A and Udani V. Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: Report of two novel mutations. Gene 515: 78–83
  62. Das DK, Udani V, Sanghavi D, Adhia R, Maitra A. Mutational analysis of Methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett Syndrome. J Clin Lab Anal 27:137- 142, 2013
  63. Das DK (2013) Molecular aberration studies in cases of idiopathic mental retardation: An update. Ind J Hum Genet 19(2) 123-12
  64. Das DK, Rahate SG, Mehta BP, Gawde HM, Tamhankar PM. Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development. Int J Hum Genet 19: 437-442, 2013
  65. Joshi R, Das D, Tamhankar P and Shaikh S. Phenotypic variability in congenital lipoid adrenal hyperplasia. Indian Pediat 51: 399-400, 2014
  66. Tamhankar PM, Iyer S, Sanghavi S and Khopkar U. Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene. J Postgrad Med 60:332-334, 2014
  67. Tamhankar PM, Vasudevan L, Kondurkar S, Yashaswini K, Agarwalla SK, Nair M, Ramkumar TV, Chaubal N and Chennuri VS. Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome. J Clin Res Pediatr Endocrinol 6: 79-83, 2014.
  68. Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S and Sheth J. Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. J Hum Genet 59:223-228, 2014
  69. Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K and Girisha KM. GALNS mutations in Indian patients with mucopolysaccharidosis IVA. Am J Med Genet A 164:2793-801, 2014.
  70. Kulkarni A, Mohite M, Vijaykumar R, Bansode P, Murade S and Tamhankar PM. Neonatal Severe Hyperparathyroidism due to Compound Heterozygous Mutation of Calcium Sensing Receptor (CaSR) Gene Presenting as Encephalopathy. Indian J Pediatr 81: 1228-9, 2014.
  71. Das DK, Jadhav V, Ghattargi VC and Udani V. Novel mutation in Forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome. Gene 538:109-112, 2014.
  72. D’Aiuto L, Zhi Y, Das DK, Wilcox MR, Johnson JW, McClain L, MacDonald ML, Di Maio R, Schurdak ME, Piazza P, Viggiano L, Sweet R, Kinchington PR, Bhattacharjee AG, Yolken R, Nimgaonkar VL. Organogenesis, 10(4):365-377, 2014
  73. Tamhankar PM, Vasudevan L, Bansal V, Menon SR, Gawde HM, D’Souza A, Babu S, Kondurkar S, Adhia R, Das DK. Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. Eur J Med Genet 58(8):392-9, 2015.
  74. Tamhankar PM, Iyer SV, Ravindran S, Gupta N, Kabra M, Nayak C, Kura M, Sanghavi S, Joshi R, Chennuri VS, Khopkar U. Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. Indian J Dermatol Venereol Leprol 81:16-22, 2015.
  75. Das D.K. Tapias V. D’Aiuto L. Chowdari K.V. Francis L. Zhi Y. Ghosh A. Surti U,Tischfield J. Sheldon M. Moore J.C. Fish K. Nimgaonkar V.L. Genetic and morphological features of human iPSC-derived neurons with chromosome 15q11.2 (BP1-BP2) deletions. Mol Neuropsychiatry 1:116–123, 2015.
  76. Ankala A, Tamhankar PM, Valencia CA, Rayam KK, Kumar MM and Hegde MR. Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations. Hum Mutat 36:1-10, 2015.
  77. Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S, Sheth J. Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. J Hum Genet 60:285, 2015.
  78. Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, Sankar VH, Gupta N, Patil SJ, Mandal K, Tamhankar P, Aggarwal S, Agarwal M. Prenatal diagnosis in India is not limited to sex selection. Genet Med 17:88, 2015.
  79. Tamhankar PM, Mistri M, Kondurkar P, Sanghavi D, Sheth J . Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. J Hum Genet. 2016 Feb;61(2):163-6.
  80. Tamhankar PM, Merchant R, Shah A. Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation. Indian J Pediatr. 83(5):473-4, 2016.
  81. Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N,Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. Am J Med Genet A. 2016 Jun 24. doi: 10.1002/ajmg.a.37817