Zobrazeno 1 - 10
of 294
pro vyhledávání: '"Shubha R. Phadke"'
Autor:
Veronica Arora, Nitika Setia, Ashwin Dalal, Maria Celestina Vanaja, Deepti Gupta, Tinku Razdan, Shubha R. Phadke, Renu Saxena, Anshu Rohtagi, Ishwar C. Verma, Ratna Dua Puri
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a result of biallelic mutations in the NEU1 gene. Sialidosis is traditionally classified as
Externí odkaz:
https://doaj.org/article/c585e0f01cc24b8ea61b7c8bc29accae
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis
Autor:
Anjali Sharma, Ujjal Poddar, Shikha Agnihotry, Shubha R. Phadke, Surender K. Yachha, Rakesh Aggarwal
Publikováno v:
BMC Gastroenterology, Vol 18, Iss 1, Pp 1-10 (2018)
Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is caused by variations in ATP8B1, ABCB11 or ABCB4 genes. Data on genetic variations in Indian patients with PFIC are lacking. Methods Coding and splice regions of the three gen
Externí odkaz:
https://doaj.org/article/34808eaca6e34c27b452aae1bcfee82a
Autor:
Haseena Sait, Somya Srivastava, Manmohan Pandey, Deepak Ravichandran, Anju Shukla, Kausik Mandal, Deepti Saxena, Arya Shambhavi, Purvi Majethia, Lakshmi Priya Rao, Suvasini Sharma, Shubha R. Phadke, Amita Moirangthem
Publikováno v:
neurogenetics. 24:113-127
Publikováno v:
American Journal of Medical Genetics Part A. 191:864-869
Autor:
Benjamin D. Solomon, Margaret P. Adam, Chin‐To Fong, Katta M. Girisha, Judith G. Hall, Anna C. E. Hurst, Peter M. Krawitz, Shahida Moosa, Shubha R. Phadke, Cedrik Tekendo‐Ngongang, Tara L. Wenger
Publikováno v:
American Journal of Medical Genetics Part A. 191:659-671
The field of clinical genetics and genomics continues to evolve. In the past few decades, milestones like the initial sequencing of the human genome, dramatic changes in sequencing technologies, and the introduction of artificial intelligence, have u
Publikováno v:
American Journal of Medical Genetics Part A. 188:1909-1914
Autor:
Chaitanya Datar, Nutan Kamath, Mamta N. Muranjan, Katta M. Girisha, Gandham SriLakshmi Bhavani, Anju Shukla, Shubha R. Phadke, Hitesh Shah, Chelna Galada, Sheela Nampoothiri, Prince Jacob
Publikováno v:
American Journal of Medical Genetics Part A. 188:751-759
Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by rhizomelic short-limbed skeletal dysplasia. The primary clinical and radiographic features include disproportionate dwarfism, joint laxity and hyperextensibility, exagger
Autor:
Suzena Masih, Shubha R. Phadke, Ravi Kumar, Neha Agrawal, Deepti Saxena, Sushil Kumar Jaiswal, Parshw Singh, Amita Moirangthem, Kausik Mandal, Priyanka Srivastava
Publikováno v:
International Journal of Laboratory Hematology. 44:186-192
INTRODUCTION Hemophilia B is associated with molecular heterogeneity, with more than 1200 unique variants in the F9 gene. We hereby describe the mutational spectrum of severe hemophilia B patients presenting in a tertiary-care center in India. METHOD
Publikováno v:
The Indian journal of medical research. 155(6)
Haemophilia is a debilitating bleeding disorder with significant comorbidities affecting the quality of life. In India, the management of these individuals is still limited to on-demand institutional treatment with coagulant factors. In this study, w
Publikováno v:
Indian Journal of Pediatrics. 88:813-818
Genetic disorders can be monogenic or chromosomal. Deletions, duplications, and cryptic imbalances due to rearrangements of the telomeres are seen in a number of patients with psychomotor and language delay. Here, the authors report a case of 1-y-old