Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion sizeAshutosh Halder
Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India
Mol Cytogenet 5:13. 2012
..We think early post zygotic events (mitotic non-allelic homologous recombination) could have been played a role in the alteration of 22q11.2 deletion size and, thus phenotypic variability in the monozygotic twins...
- Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
Ashutosh Halder
Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India
Mol Cytogenet 1:18. 2008
..2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome...
- Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India
Ashutosh Halder
Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India
BMC Med Genet 11:101. 2010
..Its prevalence and manifestations from north India has not been reported. This study was designed to determine the prevalence and ability of clinical criteria to predict 22q11.2 microdeletion...
- A preliminary study on chromosome aneuploidy & mosaicism in early pre-implantation human embryo by fluorescence in situ hybridization
Aashish Fauzdar
Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India
Indian J Med Res 128:287-93. 2008
..In this study, we attempted to evaluate chromosome aneuploidy and mosaicism on human embryos through the use of FISH...
- Effect of gonadotropins on chromosome aneuploidy, chromosome mosaicism & sex ratio in mouse preimplantation embryos
Ashish Fauzdar
Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India
Indian J Med Res 129:669-75. 2009
..The effects of gonadotropins on chromosome aneuploidy, chromosome mosaicism and sex ratio on mouse preimplantation embryos were evaluated through the use of fluorescence in situ hybridization (FISH)...
- Detection of 22 q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH 22 syndrome
Ashutosh Halder
Department of Reproductive Biology, Pediatrics and Cardiology, All India Institute of Medical Sciences, New Delhi 110 029, India
Indian Pediatr 42:1236-9. 2005
..2 deletion. Interphase FISH with 22q 11.2 probe demonstrated hemizygous deletion in 98.5% nuclei. Interphase FISH for diagnosis of CATCH 22 syndrome has not been reported previously from India to our knowledge...
- Skewed sex ratio and low aneuploidy in recurrent early missed abortion
Ashutosh Halder
Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India
Indian J Med Res 124:41-50. 2006
....
- The therapeutic effect of bone marrow-derived liver cells in the phenotypic correction of murine hemophilia A
Neelam Yadav
Stem Cell Biology Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi, India
Blood 114:4552-61. 2009
..Overall, this report demonstrated that BMCs rescued the bleeding phenotype in hemophilia A mice, suggesting a potential therapy for this and other related disorders...
- Assessment of 1p/19q status by fluorescence in situ hybridization assay: A comparative study in oligodendroglial, mixed oligoastrocytic and astrocytic tumors
Bhaskar Shukla
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India
Neurol India 57:559-66. 2009
..Due to overlapping histomorphological features, difference in clinical behavior and treatment response, establishing potential molecular markers to facilitate diagnosis of various genetic subtypes of diffuse gliomas is essential...
