Zobrazeno 1 - 10
of 291
pro vyhledávání: '"I C, Verma"'
Autor:
I. C. Verma, A. El-Beshlawy, A. Tylki-Szymańska, A. Martins, Y.-L. Duan, T. Collin-Histed, M. Schoneveld van der Linde, R. Mansour, V. C. Dũng, Pramod K. Mistry
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Rare diseases affect > 400 million people globally with a disproportionate burden falling on children, resulting in high morbidity and mortality rates. Affected individuals in some under-resourced countries have limited access to expert care
Externí odkaz:
https://doaj.org/article/e223d1fe6a354bdfbf95799a08027a30
Autor:
Kanika, Singh, Ratna Dua, Puri, Sunita, Bijarnia-Mahay, Meena, Lall, Jyotsna, Verma, Renu, Saxena, Sudha, Kohli, Divya, Thomas, Pushpa, Saviour, I C, Verma
Publikováno v:
Indian Pediatrics. 59:463-466
To define the spectrum of genetic disorders in patients with short stature visiting the genetic out-patient department in a tertiary care hospital.A chart review was done for 455 individuals (10 months-16 yrs) with short stature, who were evaluated a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df3000736a969dca6e3f3df8bfaad957
https://doi.org/10.1007/s13312-022-2537-y
https://doi.org/10.1007/s13312-022-2537-y
Publikováno v:
Clinica Chimica Acta. 521:177-190
Background & Aims Lysosomal storage disorders (LSDs) remain a significant cause of morbidity in the Indian population and treatment is largely out of reach for most patients. Although data on enzymatic and molecular diagnosis of Gaucher disease (GD)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67008aedad3a2003fadc07d2e26b0548
https://doi.org/10.1016/j.cca.2021.07.017
https://doi.org/10.1016/j.cca.2021.07.017
Autor:
Anju Joshi, Sunita Bijarnia-Mahay, Meena Lall, Arti Joshi, I. C. Verma, Pushpa Saviour, Shruti Agarwal, Preeti Paliwal, Surbhi Mahajan, Ratna Dua Puri
Publikováno v:
J Obstet Gynaecol India
BACKGROUND: Karyotyping has been the gold standard for prenatal chromosome analysis. The resolution should be higher by chromosome microarray analysis (CMA). The challenge lies in recognizing benign and pathogenic or clinically significant copy numbe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f663dbf2da2f99a4b41d6ee469920182
https://doi.org/10.1007/s13224-020-01413-6
https://doi.org/10.1007/s13224-020-01413-6
Publikováno v:
Current Medicine Research and Practice, Vol 1, Iss 6, Pp 300-305 (2011)
Background: Maternal thyroid dysfunction in early pregnancy is associated with an adverse maternal and perinatal outcome. Limited data are available on the prevalence of and maternal and foetal morbidities associated with maternal thyroid dysfunction
Externí odkaz:
https://doaj.org/article/cb409308c2bc46d68e01d02be0188160
Autor:
I. C. Verma, A. El-Beshlawy, A. Tylki-Szymańska, A. Martins, Y.-L. Duan, T. Collin-Histed, M. Schoneveld van der Linde, R. Mansour, V. C. Dũng, Pramod K. Mistry
Publikováno v:
Orphanet journal of rare diseases. 17(1)
Rare diseases affect > 400 million people globally with a disproportionate burden falling on children, resulting in high morbidity and mortality rates. Affected individuals in some under-resourced countries have limited access to expert care or treat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d43280223db2a27f3d5552478de776f1
https://pubmed.ncbi.nlm.nih.gov/35369888
https://pubmed.ncbi.nlm.nih.gov/35369888
Autor:
Ratna Dua Puri, I. C. Verma, Renu Saxena, Sunita Bijarnia-Mahay, Nandita Dimri, Nidhish Sharma, Ranjana Mishra
Publikováno v:
Journal of Fetal Medicine. :147-150
Gaucher disease is the most common of the lysosomal storage disorders, with a continuum of clinical features ranging from a perinatal lethal form to an asymptomatic form. Perinatal lethal Gaucher disease (PLGD), also known as fetal Gaucher disease is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f472fbe6a65ea8cbf12cd1283d46370b
https://doi.org/10.1007/s40556-019-00216-8
https://doi.org/10.1007/s40556-019-00216-8
Autor:
Kanika Singh, Ratna Dua Puri, Sunita Bijarnia-Mahay, Meena Lall, Jyotsna Verma, Renu Saxena, Sudha Kohli, Divya Thomas, Pushpa Saviour, I. C. Verma
Publikováno v:
Indian Pediatrics. 59:580-580
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8991a2bea48f174c36e605beaf19751
https://doi.org/10.1007/s13312-022-2562-x
https://doi.org/10.1007/s13312-022-2562-x
Publikováno v:
Indian pediatrics. 58(1)
To examine the common and specific clinical features, mutation spectrum and genotype-phenotype correlation in Noonan syndrome and related RASopathies. Records of 30 patients with clinical diagnosis of Noonan syndrome and related RASopathies presentin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::769cbd86455382741bd3c6b9f5cb4e8a
https://pubmed.ncbi.nlm.nih.gov/33452774
https://pubmed.ncbi.nlm.nih.gov/33452774
Publikováno v:
Clinical biochemistry. 89
Objectives Diagnosis of lysosomal storage disorders (LSDs) remains challenging due to wide clinical, biochemical and molecular heterogeneity. The study applies a combined biochemical and genetic approach to diagnose symptomatic Indian patients of Pom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::843be5df5397403821605d7247d60240
https://pubmed.ncbi.nlm.nih.gov/33301762
https://pubmed.ncbi.nlm.nih.gov/33301762