Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Veronica, Arora"'
Publikováno v:
Indian Pediatrics Case Reports, Vol 2, Iss 2, Pp 84-87 (2022)
Background: Behavioral phenotypes are observable patterns of behavior present in certain genetic syndromes that have distinctive social, linguistic, cognitive, and motor profiles. These may play an important role as pointers toward certain genetic di
Externí odkaz:
https://doaj.org/article/be1aeea22a884bdfbd5e131d16b3185b
Autor:
Vaibhav Tiwari, Anurag Gupta, Veronica Arora, Pallav Gupta, Suviraj John, Smita Divyaveer, Vinant Bhargava, Manish Malik, Ashwani Gupta, Anil K. Bhalla, Devinder S. Rana
Publikováno v:
Saudi Journal of Kidney Diseases and Transplantation, Vol 32, Iss 6, Pp 1813-1819 (2021)
A 23-year-old girl with morbid obesity, diabetes mellitus, hypertension, obstructive sleep apnea, and immunoglobulin A nephropathy (IgAN) attended a bariatric clinic after multiple failed attempts at weight loss. In the past, she was diagnosed with I
Externí odkaz:
https://doaj.org/article/d3274a1b7ae4422080e1c3934b032877
Publikováno v:
Journal of South Asian Federation of Obstetrics and Gynaecology. 15:207-215
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa93820137faedcafe66c0eecf44dcb9
https://doi.org/10.5005/jp-journals-10006-2215
https://doi.org/10.5005/jp-journals-10006-2215
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
Autor:
Veronica Arora, Sunita Bijarnia-Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma
Publikováno v:
Autopsy and Case Reports, Vol 9, Iss 4 (2019)
Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is chara
Externí odkaz:
https://doaj.org/article/a0dfd2ae73d74ef582938a89a16980f3
Autor:
Veronica Arora, Ishwar C. Verma
Publikováno v:
Indian Journal of Medical Ethics. :65-68
Reform of the abortion laws in favour of the well-being of pregnant women is one aspect of the removal of gender discrimination. The Medical Termination of Pregnancy Act (MTP Act) 1971, was a breakthrough legislation in this regard, as it reduced the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68befe316d6693fa0767aef037906f26
https://doi.org/10.20529/ijme.2021.036
https://doi.org/10.20529/ijme.2021.036
Publikováno v:
Journal of Pediatric Genetics.
Beckwith-Wiedemann syndrome (BWS; MIM# 130650) is a well-characterized pediatric overgrowth disorder. In approximately 5% of the cases, it is caused by pathogenic variants in the CDKN1C (cyclin-dependent kinase inhibitor 1C). CDKN1C gene encodes for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddb33980df7653c024ef58dde6640822
https://doi.org/10.1055/s-0043-1764126
https://doi.org/10.1055/s-0043-1764126
Publikováno v:
J Pediatr Genet
Larsen's syndrome is characterized by dislocation of multiple large joints, digital anomalies, craniofacial dysmorphism, and short stature. In this paper, we describe a case of a 5-month-old boy with a triad of cardinal features in association with o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd185094ba885267592f23a7b575fd4
https://doi.org/10.1055/s-0040-1718540
https://doi.org/10.1055/s-0040-1718540
Publikováno v:
J Pediatr Genet
Osteopathia striata with cranial sclerosis is an X-linked dominant bone dysplasia with osteosclerosis. It should be suspected in girls with macrocephaly, intellectual disability with unique facial dysmorphic features. We described the clinical and ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d134e9d571bf8c4535a192a744b73e84
https://doi.org/10.1055/s-0040-1715120
https://doi.org/10.1055/s-0040-1715120
Publikováno v:
J Pediatr Genet
Alport's syndrome (AS) is a rare disorder characterized by a triad of deafness, progressive renal dysfunction, and ocular abnormalities. We presented a patient of early onset AS with a novel frameshift pathogenic variant in the COL4A5 gene and discus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72fa4dc703d9393668aae963bfdc2fb1
https://doi.org/10.1055/s-0040-1714363
https://doi.org/10.1055/s-0040-1714363