Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Vijay Raju Boggula"'
Publikováno v:
The Journal of Steroid Biochemistry and Molecular Biology. 183:137-141
Pseudohypoaldosteronism type 1 (PHA) is a syndrome of unresponsiveness to aldosterone. The severe form of this disease results from mutations in the genes that encode for the epithelial sodium channel subunits, SCNN1A, SCNN1B, and SCNN1G. A PHA patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48b3d6bda494636883d29ed2d045fa8b
https://doi.org/10.1016/j.jsbmb.2018.06.007
https://doi.org/10.1016/j.jsbmb.2018.06.007
Publikováno v:
Clinical Dysmorphology. 25:63-67
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e30ba89558c2bb0638ff8d3692f82d2a
https://doi.org/10.1097/mcd.0000000000000118
https://doi.org/10.1097/mcd.0000000000000118
Autor:
Kerstin Kutsche, Vijay Raju Boggula, Gandham SriLakshmi Bhavani, Hengameh Abdollahpour, Hitesh Shah, Katta M. Girisha, John M. Graham, Shubha R. Phadke
Publikováno v:
American Journal of Medical Genetics Part A. 164:1035-1040
We report on an adolescent girl with sparse scalp hair, wide columella extending below alae nasi, webbing at elbows, broad finger tips, short distal phalanx of fingers, swan neck deformity of fingers, scoliosis, tall vertebrae, short fibulae, short f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01ee1c979689ff71ef9d86c8910236df
https://doi.org/10.1002/ajmg.a.36381
https://doi.org/10.1002/ajmg.a.36381
Autor:
Israel Hanukoglu, Hananya Vaknine, Thomas R. Kleyman, Sachin Sharma, Aaron Hanukoglu, Vijay Raju Boggula
Publikováno v:
Histochemistry and cell biology. 147(6)
A major function of the skin is the regulation of body temperature by sweat secretions. Sweat glands secrete water and salt, especially NaCl. Excreted water evaporates, cooling the skin surface, and Na+ ions are reabsorbed by the epithelial sodium ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fda3b148e681ecdc7afe12d303492be
https://pubmed.ncbi.nlm.nih.gov/28130590
https://pubmed.ncbi.nlm.nih.gov/28130590
Autor:
Prajnya Ranganath, Melissa Sloman, Vijay Raju Boggula, Rajendra V. Phadke, Peter D. Turnpenny, Divya Gupta, Shubha R. Phadke
Publikováno v:
American Journal of Medical Genetics Part A. :3065-3070
We report on two brothers (born to nonconsanguineous parents) with short stature, hypospadias, scoliosis, vertebral segmentation defects of "spondylocostal dysostosis" type, and intellectual disability. Results of cytogenetic and molecular genetic te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::948d54c8159e2ab36ba7da625c74c49c
https://doi.org/10.1002/ajmg.a.35607
https://doi.org/10.1002/ajmg.a.35607
Publikováno v:
Acta Tropica. 110:80-85
Sodium Antimony Gluconate (SAG) is currently used worldwide as the first-line drugs for the treatment of visceral leishmaniasis (VL) and cutaneous leishmaniasis (CL) since 1940s. Unfortunately, the resistance of Leishmania parasite to this drug is in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a4347c0817a1e1c8fffb7738505ccd
https://doi.org/10.1016/j.actatropica.2009.01.005
https://doi.org/10.1016/j.actatropica.2009.01.005
Autor:
Pragya Misra, Vijay Raju Boggula, Ajit Kumar Shasany, Awanish Kumar, Shyam Sundar, Anuradha Dube
Publikováno v:
Acta tropica. 113(2)
The Leishmania strains belonging to cutaneous leishmaniasis (CL) and visceral leishmaniasis (VL) have been reported to possess close homology in genome profiles. To confirm this on genetic basis an attempt was made to differentiate Leishmania major;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee19d40b0f104f73b92a9f2ae37ee3e7
https://pubmed.ncbi.nlm.nih.gov/19854144
https://pubmed.ncbi.nlm.nih.gov/19854144
Publikováno v:
Indian journal of pediatrics. 76(10)
To detect subtelomeric copy number variations (deletions and duplications) using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique in children with idiopathic mental retardation.All children presenting to the genetics out-patient depa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94d3041e3693d33646006ac716aa2526
https://pubmed.ncbi.nlm.nih.gov/19907935
https://pubmed.ncbi.nlm.nih.gov/19907935
Publikováno v:
Indian Journal of Medical Research, Vol 142, Iss 6, Pp 699-712 (2015)
The Indian Journal of Medical Research
The Indian Journal of Medical Research
Background & objectives: Cytogenetic microarray (CMA) is now recommended as a first-tier clinical diagnostic test in cases with idiopathic intellectual disability and/or developmental delay (ID/DD). Along with clinically relevant variants, CMA platfo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::761d4d1e81979562ec5a3ce724862a64
https://doi.org/10.4103/0971-5916.174561
https://doi.org/10.4103/0971-5916.174561
Autor:
Vijay Raju Boggula, Shukla, A., Danda, S., Hariharan, S. V., Nampoothiri, S., Kumar, R., Phadke, S. R.
Publikováno v:
Scopus-Elsevier
Indian Journal of Medical Research, Vol 139, Iss 1, Pp 66-75 (2014)
Indian Journal of Medical Research, Vol 139, Iss 1, Pp 66-75 (2014)
Background & objectives: Developmental delay (DD)/mental retardation also described as intellectual disability (ID), is seen in 1-3 per cent of general population. Diagnosis continues to be a challenge at clinical level. With the advancement of new m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0405069d78cc6130768e5fed2c3ed341
http://www.scopus.com/inward/record.url?eid=2-s2.0-84896805456&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-84896805456&partnerID=MN8TOARS
