Search Results - "Chowdhury, Madhumita R."

Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre by Yenamandra, Vamsi K, Vellarikkal, Shamsudheen K, Chowdhury, Madhumita R, Jayarajan, Rijith, Verma, Ankit, Scaria, Vinod, Sivasubbu, Sridhar, Ray, Subrata Basu, Dinda, Amit K, Kabra, Madhulika, Sharma, Vinod K, Sethuraman, Gomathy

“…Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in…”
Get full text

Application of Whole Exome Sequencing in Elucidating the Phenotype and Genotype Spectrum of Junctional Epidermolysis Bullosa: A Preliminary Experience of a Tertiary Care Centre in India by Yenamandra, Vamsi K, Vellarikkal, Shamsudheen K, Kumar, Manoj, Chowdhury, Madhumita R, Jayarajan, Rijith, Verma, Ankit, Scaria, Vinod, Sivasubbu, Sridhar, Ray, Subrata B, Dinda, Amit K, Kabra, Madhulika, Kaur, Punit, Sharma, Vinod K, Sethuraman, Gomathy

“…Highlights • Junctional epidermolysis bullosa (JEB) is a diverse group of genetic skin disorders associated with mutations in nearly 8 genes encoding critical…”
Get full text

Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination by Chauhan, Avnish K., Chandra, P. Sarat, Goyal, Nishant, Chowdhury, Madhumita R., Banerjee, Jyotirmoy, Tripathi, Manjari, Kabra, Madhulika

“…Objective Developmental bony craniovertebral junction (CVJ) anomalies seem to have a genetic basis and also abnormal joint morphology causing atlantoaxial…”
Get full text

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III by Perveen, Shama, Gupta, Neerja, Kumar, Manoj, Kaur, Punit, Chowdhury, Madhumita R., Kabra, Madhulika

“…Glycogen storage disease type III (GSD III) is a rare autosomal recessive inborn error of glycogen degradation pathway due to deficiency or reduced activity of…”
Get full text

Corrigendum to “Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III. Am J Med Genet Part A. 2020;182A:1190–1,200” by Perveen, Shama, Gupta, Neerja, Kumar, Manoj, Kaur, Punit, Chowdhury, Madhumita R., Kabra, Madhulika

Get full text

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India by Sharma, Pankaj, Gupta, Neerja, Chowdhury, Madhumita R, Phadke, Shubha R, Sapra, Savita, Halder, Ashutosh, Ghosh, Manju, Kabra, Madhulika

“…Williams-Beuren syndrome (WBS) or Williams syndrome (OMIM 194050) is a multisystem disorder manifested by neurodevelopmental delay and is caused by a…”
Get more information

Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p by Sharma, Pankaj, Gupta, Neerja, Chowdhury, Madhumita R, Sapra, Savita, Shukla, Rashmi, Lall, Meena, Kabra, Madhulika

“…5p deletion syndrome or Cri du Chat syndrome is a autosomal deletion syndrome, caused by the de novo deletion of chromosome 5p in the majority of the cases…”
Get full text

Utility of XY-amelogenin gene primers for detection of sex chromosomes by Chowdhury, M R, Mathur, R, Verma, I C

“…The utility of polymerase chain reaction (PCR) amplification of amelogenin gene as a reliable and rapid means of determination of sex chromosomes was tested in…”
Get more information

Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p by Sharma, Pankaj, Gupta, Neerja, Chowdhury, Madhumita R, Sapra, Savita, Shukla, Rashmi, Lall, Meena, Kabra, Madhulika

Get full text

Cytogenetic studies in ataxia telangiectasia & their use in prenatal diagnosis by Chowdhury, M R, Singh, G, Shukla, A, Verma, I C

“…Cytogenetic studies were carried out in obligate ataxia telangiectasia (AT) heterozygotes, AT homozygotes and control subjects. Rate of chromosomal aberrations…”
Get more information