Shubha R Phadke

Summary

Affiliation: Sanjay Gandhi Postgraduate Institute of Medical Sciences
Country: India

Publications

  1. ncbi Partial trisomy 13 with features similar to C syndrome
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian Pediatr 41:614-7. 2004
  2. ncbi Catel-Manzke syndrome without cleft palate: a case report
    Ratna Dua Puri
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Clin Dysmorphol 12:279-81. 2003
  3. pmc Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences
    Sajid Malik
    Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr, 7, 35037 Marburg, Germany
    BMC Med Genet 8:78. 2007
  4. ncbi Complex camptopolydactyly: an unusual hand malformation
    S R Phadke
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Am J Med Genet 83:191-2. 1999
  5. ncbi Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Med Res 131:508-14. 2010
  6. ncbi Anotia and facial palsy: unusual features of cardiofacial syndrome
    K M Girisha
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 72:525-6. 2005
  7. doi Polydactyly and genes
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 77:277-81. 2010
  8. doi Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India
    S R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India
    J Appl Genet 51:107-10. 2010
  9. ncbi Further delineation of acro-renal-mandibular syndrome
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
    Clin Dysmorphol 15:119-20. 2006
  10. ncbi Fabry disease: a treatable lysosomal storage disorder
    Shubha R Phadke
    Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Bareli Road, Lucknow 226014, Uttar Pradesh, India
    Natl Med J India 22:20-2. 2009

Detail Information

Publications74

  1. ncbi Partial trisomy 13 with features similar to C syndrome
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian Pediatr 41:614-7. 2004
    ..Genetic counselling of the family for reproductive risks and testing siblings of the mother for detection of balanced carriers is essential...
  2. ncbi Catel-Manzke syndrome without cleft palate: a case report
    Ratna Dua Puri
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Clin Dysmorphol 12:279-81. 2003
    ..This case differs from the classical Catel-Manzke syndrome in having isolated hand malformations without any other malformations such as cleft palate or cardiac abnormalities...
  3. pmc Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences
    Sajid Malik
    Zentrum für Humangenetik, Philipps Universitat Marburg, Bahnhofstr, 7, 35037 Marburg, Germany
    BMC Med Genet 8:78. 2007
    ..It has been suggested that expansions < or = 6 alanine residues go without medical attention, as no such expansion has ever been reported with the SPD1 phenotype...
  4. ncbi Complex camptopolydactyly: an unusual hand malformation
    S R Phadke
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Am J Med Genet 83:191-2. 1999
    ..Here, we describe a very unusual type of hand malformation characterised by campto-polydactyly with totally disorganised configuration of digits. The role of possible genes involved in development of hands and digits is discussed...
  5. ncbi Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Med Res 131:508-14. 2010
    ..We investigated the main genetic causes of ARO in eight Indian patients with early postnatal onset and the typical severe clinical course including visual impairment and anaemia...
  6. ncbi Anotia and facial palsy: unusual features of cardiofacial syndrome
    K M Girisha
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 72:525-6. 2005
    ..The authors report a child with features of Cardiofacial syndrome with anotia and facial paralysis. This is the first report of such an association...
  7. doi Polydactyly and genes
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 77:277-81. 2010
    ..The role of genetic defect in polydactyly syndromes and the correlation between genotypes and phenotypes is discussed in this review article...
  8. doi Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India
    S R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India
    J Appl Genet 51:107-10. 2010
    ..Instead, 2 novel alleles are described, including 64_65delGC, which was present on a single PEX7 haplotype and could represent a common allele in the Indian population...
  9. ncbi Further delineation of acro-renal-mandibular syndrome
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
    Clin Dysmorphol 15:119-20. 2006
    ..The features are compared with other cases with limb and renal abnormalities reported in the literature. This case along with similar two cases reported by Halal and Tobias delineates acro-renal-mandibular syndrome as a distinct entity...
  10. ncbi Fabry disease: a treatable lysosomal storage disorder
    Shubha R Phadke
    Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Bareli Road, Lucknow 226014, Uttar Pradesh, India
    Natl Med J India 22:20-2. 2009
    ..Enzyme replacement therapy helped in ameliorating the patient's symptoms and preventing complications such as renal failure, stroke and cardiovascular disorders...
  11. doi A report of a patient with interstitial deletion of 15q22: further delineation of a new micro deletion syndrome
    Shubha R Phadke
    Medical Genetics Department, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Am J Med Genet A 146:1999-2000. 2008
  12. ncbi Challenges in identifying genetic risk factors for common multifactorial disorders
    Shubha R Phadke
    Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences Lucknow, India
    Indian J Med Res 127:106-9. 2008
  13. ncbi Handless, footless fetus
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
    Clin Dysmorphol 15:233-4. 2006
    ..We report a fetus with symmetrical terminal transverse limb deficiency. Two earlier reports described patients with similar defects. These patients resemble the animal models that result from the removal of apical ectodermal ridge...
  14. ncbi Short stature, ulnar deviation of hands with absent carpals and joint contractures: a new syndrome
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
    Clin Dysmorphol 16:55-7. 2007
    ..The X-rays of hands showed dislocation of the distal end of the radius and growth of the radius over the head of the ulna with total absence of carpal bones and hypoplastic tarsal bones. This is first report of such an association...
  15. ncbi A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, India
    Neurol India 55:57-60. 2007
    ..We believe these cases represent a new autosomal recessive disorder of neuronal migration. Other similar cases of lissencephaly are reviewed...
  16. ncbi Spondylothoracic dysplasia: prenatal diagnosis and the problems of nosologic overlap
    Shubha R Phadke
    The Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Am J Med Genet A 143:899-902. 2007
  17. ncbi Torg-Winchester syndrome: lack of efficacy of pamidronate therapy
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Clin Dysmorphol 16:95-100. 2007
    ..We conclude that pamidronate does not improve peripheral osteolysis in multicentric osteolysis and nodular arthropathy caused by mutation in matrix metalloproteinase 2 gene...
  18. ncbi Genetic counseling: the impact in Indian milieu
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 71:1079-82. 2004
    ..To assess the impact of genetic counseling in Indian milieu...
  19. ncbi Phenotype score to grade the severity of thalassemia intermedia
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 70:477-81. 2003
    ..The severity of cases varies greatly. With availability of information about genetic modifiers of beta-thalassemia phenotype, attempts are being made to study genotype phenotype correlation in thalassemia intermedia...
  20. doi Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
    Am J Med Genet A 155:9-13. 2011
    ..1 provided evidence against linkage to this region. The associated findings of retinoschisis and mental retardation in two brothers suggest a new mental retardation syndrome likely to be an X linked trait...
  21. ncbi Genetic counseling
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 71:151-6. 2004
    ..Pediatricians with short training can take over the responsibility of providing counseling for common genetic disorders and may need to refer others to genetic centre for counseling and prenatal diagnosis...
  22. ncbi Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome
    S R Phadke
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Clin Dysmorphol 8:185-8. 1999
    ..One of the sibs has urinary incontinence and growth hormone deficiency, which has not been reported earlier in any type of OFDS in the literature...
  23. doi Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins
    Prajnya Ranganath
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
    Am J Med Genet A 155:2788-90. 2011
    ....
  24. ncbi Pericentric inversion causing duplication and deletion of chromosome region 13q22 --> qter in the offspring
    Siddramappa J Patil
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Am J Med Genet A 143:82-4. 2007
  25. ncbi Mental retardation, ptosis and polydactyly: a new autosomal recessive syndrome?
    Inusha Panigrahi
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Clin Dysmorphol 11:289-92. 2002
    ..They were thin in childhood and while two of the postpubertal sibs have a stocky build none is obese. We propose that this could be a previously unreported autosomal recessive syndrome...
  26. ncbi Recurrence of complex camptopolydactyly in a sibling suggestive of autosomal recessive mode of inheritance
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Am J Med Genet A 116:94-6. 2003
  27. doi Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome
    K M Girisha
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India
    Eur J Med Genet 51:251-6. 2008
    ..We describe two siblings from India with the condition and report a novel homozygous mutation in them (c.1172_1173insC). One of them had atlantoaxial dislocation...
  28. ncbi Urorectal septum malformation sequence: ultrasound correlation with fetal examination
    S J Patil
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 73:287-93. 2006
    ..To correlate prenatal and postnatal findings of urorectal septum malformation sequence and to study spectrum of malformation...
  29. doi Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation
    Kausik Mandal
    Department of Medical Genetic, Sanjay Gandhi Post Graduate Institute of Medical Science, Lucknow, India
    Indian J Pediatr 76:1027-31. 2009
    ..To detect subtelomeric copy number variations (deletions and duplications) using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique in children with idiopathic mental retardation...
  30. ncbi Knowledge and attitudes towards haemophilia: the family side and role of haemophilia societies
    Gouri Shanker Pandey
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Community Genet 6:120-2. 2003
    ..A pilot study to evaluate the knowledge about haemophilia in the families enrolled in the Lucknow Haemophilia Society (India), and to assess their attitudes towards prenatal diagnosis (PND)...
  31. doi Comparison of prenatal ultrasound findings and autopsy findings in fetuses terminated after prenatal diagnosis of malformations: an experience of a clinical genetics center
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raibarelly Road, Lucknow, Uttar Pradesh, India
    J Clin Ultrasound 38:244-9. 2010
    ....
  32. doi Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Am J Med Genet A 158:3065-70. 2012
    ....
  33. ncbi Spectrum of Lysosomal storage disorders at a medical genetics center in northern India
    Prashant K Verma
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian Pediatr 49:799-804. 2012
    ..There is limited literature available on the phenotypic and mutation spectrum of Indian patients with Lysosomal storage disorders (LSD)...
  34. ncbi Prenatal diagnosis of spinal muscular atrophy: Indian scenario
    Akanchha Kesari
    Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Prenat Diagn 25:641-4. 2005
    ..To study the psychosocial issues associated with prenatal diagnosis of SMA in India and the use of SMN1 copy number analysis for carrier detection prior to offering prenatal diagnosis...
  35. ncbi Unbalanced X; autosome translocation
    Neerja Gupta
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 73:840-2. 2006
    ..Present case signifies the importance of chromosomal analysis in a patient with developmental delay/ mental retardation and discuss lyonization in cases with X; autosome translocation...
  36. ncbi Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other
    Ashwin B Dalal
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    J Clin Ultrasound 34:146-9. 2006
    ..Furthermore, this case illustrates that karyotyping of both fetuses is warranted when 1 of the twins is found to have major malformations...
  37. doi Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: time to explore the genetics
    Shagun Aggarwal
    Department of Medical Genetics, Nizam s Institute of Medical Sciences, Hyderabad, India
    Am J Med Genet A 161:1718-21. 2013
    ..This is the first report of recurrence of URSM in sibs. It suggests the existence of hitherto unknown genetic mechanisms for this pattern of malformation...
  38. doi Analysis of short stature cases referred for genetic evaluation
    Anupriya Kaur
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences SGPGIMS, Lucknow, 226014, India
    Indian J Pediatr 79:1597-600. 2012
    ..To retrospectively analyze the profile of patients who presented with chief complaint of short stature to Medical Genetics OPD of SGPGIMS, Lucknow, India...
  39. doi Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent
    Parag M Tamhankar
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Barely Road, Lucknow 226 014, Uttar Pradesh, India
    Neurol India 58:436-40. 2010
    ..Size of EcoRI fragment varied between 17 kb to 27 kb in affected subjects and was constant for affected members of the same family. Molecular diagnosis by southern blotting has helped to provide genetic counseling for the families...
  40. doi Recurrent pregnancy loss and apolipoprotein E gene polymorphisms: a case–control study from north India
    Meenal Agarwal
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, UP, India
    Am J Reprod Immunol 64:172-8. 2010
    ..the role of apolipoprotein E gene polymorphisms in the etiology of recurrent pregnancy loss (RPL) is not clearly understood. We evaluated this polymorphism in unexplained pregnancy losses among North Indian women...
  41. ncbi Diagnosing acrocallosal syndrome
    Ashutosh Gupta
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 70:177-9. 2003
    ..A 3-month-old male child presented with typical features of acrocallosal syndrome. He satisfies Courten's diagnostic criteria for acrocallosal syndrome...
  42. ncbi Ring chromosome 13 in an infant with ambiguous genitalia
    V H Sankar
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, UP, India
    Indian Pediatr 43:258-60. 2006
    ..Karyotype is the important investigation in the evaluation of a case with ambiguous genitalia and chromosomal analysis should not be limited to only presence of X and Y chromosomes...
  43. ncbi S252W mutation in Indian patients of Apert syndrome
    K M Girisha
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, U P, India
    Indian Pediatr 43:733-5. 2006
    ..DNA sequencing confirmed the results of the restriction fragment length polymorphism. Our study is the first report from Indian subcontinent to show the prevalence of S252W mutation among Apert syndrome patients from Indian origin...
  44. ncbi Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients
    Vijay R Boggula
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Indian J Med Res 139:66-75. 2014
    ..Though MLPA cannot probe the whole genome like cytogenetic microarray, due to its ease and relative low cost it is an important technique for evaluation of cases with DD/ID. ..
  45. pmc Cytochrome P450 (CYP2C9*2,*3) & vitamin-K epoxide reductase complex (VKORC1 -1639G<A) gene polymorphisms & their effect on acenocoumarol dose in patients with mechanical heart valve replacement
    Anupriya Kaur
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Med Res 137:203-9. 2013
    ....
  46. doi Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association
    Rekha Gupta
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
    Am J Med Genet A 164:186-9. 2014
    ..HNRNPU and FAM36A are two important genes in the deleted region. HNRNPU gene mediate long range control of SHH gene which is likely explanation of preaxial polydactyly in the present patient. HHE may be a chance co-occurrence...
  47. pmc Aetiologic spectrum of mental retardation & developmental delay in India
    Shagun Aggarwal
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Indian J Med Res 136:436-44. 2012
    ....
  48. doi Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India
    Kritanjali Singh
    Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Hematology 17:291-6. 2012
    ..Vitamin D receptors (VDRs - FokI, TaqI, and Bsml) polymorphisms are closely related to low BMD at the lumbar spine and hips which can be used as a useful genetic marker in predicting bone disease in these patients...
  49. doi Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies
    Shalu Jain
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Genet Test Mol Biomarkers 16:624-7. 2012
    ..5% cases of maternal nondisjunction and 100% cases of paternal nondisjunction. The combination of three STR markers is highly informative and can be used for diagnosis of trisomy 21 in India...
  50. pmc Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
    Shagun Aggarwal
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Mol Vis 17:1305-9. 2011
    ..To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia...
  51. ncbi Further delineation of mandibulofacial dysostosis: Toriello type
    Ratna Dua Puri
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Clin Dysmorphol 11:91-3. 2002
    ..The pattern of malformations differs from the classical Treacher Collins syndrome. We consider it to be mandibulofacial dysostosis (MFD), Toriello type with some additional features...
  52. ncbi Issues in counseling for Down syndrome
    K M Girisha
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, UP, India
    Indian Pediatr 44:131-3. 2007
    ..However, most of the families were ignorant about the lack of curative treatment, chromosomal nature of the disorder and prenatal screening and testing options...
  53. ncbi Aarskog syndrome
    Vandana Chaddha
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, India
    Indian Pediatr 39:400. 2002
  54. ncbi Carrier analysis and prenatal diagnosis of haemophilia A in North India
    Gouri Shanker Pandey
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India
    Int J Mol Med 10:661-4. 2002
    ..Inversion mutation was detected in 37% of severely affected patients. Based on present and previous studies from India, a strategy has been proposed to provide molecular diagnosis to a large number of undiagnosed cases of haemophilia A...
  55. ncbi Neuroimaging in mental retardation
    Amita Pandey
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 71:203-9. 2004
    ..To determine the diagnostic yield of neuroimaging in a cohort of children with mental retardation of unknown origin...
  56. ncbi Spectrum of holoprosencephaly
    Seema Thakur
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 71:593-7. 2004
    ..To conduct a clinical study of holoprosencephaly (HPE)...
  57. doi Long-term efficacy of oral deferiprone in management of iron overload in beta thalassemia major
    Himanshu Goel
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Hematology 13:77-82. 2008
    ..Variable response to deferiprone has been observed in the management of iron overload in patients with thalassemia major. Our objective was to assess the long-term efficacy of deferiprone in patients with thalassemia major...
  58. ncbi Hemihyperplasia syndromes
    Ashwin B Dalal
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 226014, India
    Indian J Pediatr 73:609-15. 2006
    ..There is considerable confusion regarding their classification and ascertainment into various syndromes. We tried to look into the various aspects of hemihyperplasia syndromes...
  59. ncbi Morphometric analysis of face in dysmorphology
    Ashwin B Dalal
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 226014, India
    Comput Methods Programs Biomed 85:165-72. 2007
    ..We conclude that application of the principles of geometric morphometrics to study of shape variation in facies of patients with dysmorphic syndromes appears to be a promising new area of research...
  60. pmc Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy
    Prashant K Verma
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Hum Genet 18:91-4. 2012
    ..Being semi-quantitative, MLPA is also effective in detecting duplications and carrier testing of females; both of which cannot be done using multiplex PCR. It has found applications in diagnostics of many genetic disorders...
  61. ncbi Profile of patients with Von Gierke disease from India
    Parag M Tamhankar
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian Pediatr 49:228-30. 2012
    ..355 C >; G (p.H119D). They were born to non-consanguineous parents from Karnataka. This suggests founder effect. Mutation detection confirms the diagnosis and assists in counseling and prenatal diagnosis...
  62. ncbi Feasibility of thalassaemia control by extended family screening in Indian context
    Anita Saxena
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    J Health Popul Nutr 20:31-5. 2002
    ..There is also a need to make the screening more readily available and to motivate high-risk groups through awareness-raising programmes...
  63. doi Congenital swan neck deformity of fingers with syndactyly
    Kausik Mandal
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Clin Dysmorphol 17:109-11. 2008
    ..We report a case of congenital swan neck deformity of the fingers in a 16-year-old boy, with associated ulnar deviation of the fingers, bilateral simian creases and soft tissue syndactyly...
  64. ncbi Delleman syndrome
    S J Patil
    Department of Medical Genetics, SGPGIMS, Raebareli Road, Lucknow 226 014 UP, India
    Indian Pediatr 43:173-4. 2006
  65. ncbi Hemihyperplasia with Ehlers-Danlos syndrome like skin changes
    Ashwin Dalal
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Clin Dysmorphol 14:207-8. 2005
    ..This is the first report of association of isolated hemihyperplasia with skin changes similar to Ehlers-Danlos syndrome...
  66. doi Late termination of pregnancy for fetal abnormalities: The perspective of Indian lay persons and medical practitioners
    Shubha R Phadke
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, India
    Prenat Diagn 31:1286-91. 2011
    ..The objective of this article was to ascertain the opinion of lay persons and medical practitioners in India regarding late termination of pregnancies (LTOP) for fetal abnormalities...
  67. ncbi Asphyxiating thoracic dystrophy with facial dysmorphism
    V H Sankar
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 73:1115-8. 2006
    ..In addition the baby had facial dysmorphism and broad thumbs and great toes similar to Oto-palato-digital syndrome type II (OPD II). The association of these features with ATD is not reported till date...
  68. doi Identification of DKC1 gene mutation in an Indian patient
    Parag M Tamhankar
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Pediatr 77:310-2. 2010
    ..She did not have any clinical manifestations. This is the commonest mutation worldwide responsible for X-linked variety of this disease and has been demonstrated for the first time in an native Indian patient...
  69. doi COL1A1 mutation in an Indian child with Caffey disease
    Prajnya Ranganath
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Bareilly Road, Lucknow 226014 Uttar Pradesh, India
    Indian J Pediatr 78:877-9. 2011
    ..The case being reported is a 7- month-old Indian boy with Caffey disease who was found to have the R1014C heterozygous mutation in the COL1A1 gene. This is the first mutation report of an Indian case with Caffey disease...
  70. pmc RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F Brancati
    Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
    Clin Genet 74:164-70. 2008
    ..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...
  71. ncbi Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report
    Shubha R Phadke
    Prenat Diagn 22:1240-1. 2002
  72. ncbi Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes
    Neerja Gupta
    Pediatr Dermatol 23:225-30. 2006
    ..To overcome this existing confusion, we present three patients with cutis laxa type II and review the literature to highlight the important differentiating features between cutis laxa type II and wrinkly skin syndrome...
  73. ncbi Prenatally diagnosed trisomy 6 mosaicism
    Neerja Gupta
    Prenat Diagn 24:841-4. 2004
  74. pmc CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
    Francesco Brancati
    IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
    Am J Hum Genet 81:104-13. 2007
    ..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...