Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded!

Autor: Kumari Pritti, Vineet Mishra, Somesh Aggarwal, Mehul Mistri, Manisha Chhetry

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-5 (2024)

Abstract Background Anterior segment dysgenesis (ASD) disorders comprises of spectrum of developmental conditions affecting the structures of angle of anterior chamber including cornea, iris, and lens. These conditions are characterized by both autos

Externí odkaz: https://doaj.org/article/e7162929b6d240c9a187dae5723e9db9

Cytogenetic evaluation of primary amenorrhea: a study of 100 cases at tertiary centre

Autor: Kumari Pritti, Vineet Mishra, Hetvi Patel, Kushani Patel, Rohina Aggarwal, Sumesh Choudhary

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-7 (2022)

Abstract Background Amenorrhea is the absence of menstruation in women of reproductive age. The physiology of menstruation and reproduction has a strong correlation with the expression of the X chromosome. Early referral for cytogenetic evaluation is

Externí odkaz: https://doaj.org/article/3786f0c272ef4d22974342d9cf6933e0

Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

Autor: Vineet V Mishra, Kumari Pritti, Rohina Aggarwal, Sumesh Choudhary

Publikováno v: Journal of Human Reproductive Sciences, Vol 8, Iss 4, Pp 239-241 (2015)

We present a patient with nonclassic congenital adrenal hyperplasia (NCAH) misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She h

Externí odkaz: https://doaj.org/article/3bd2169da27b4037adc8a966dc6052da

Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

Autor: Rohina Aggarwal, Kumari Pritti, Sumesh Choudhary, Vineet V Mishra

Publikováno v: Journal of Human Reproductive Sciences
Journal of Human Reproductive Sciences, Vol 8, Iss 4, Pp 239-241 (2015)

We present a patient with nonclassic congenital adrenal hyperplasia (NCAH) misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2375400090f821264ed34ab23aee0c0
http://europepmc.org/articles/PMC4691978

Male Infertility: Causes and Management at a Tertiary Care Center in India.

Autor: Choudhary S; Department of Obstetrics and Gynecology, Smt. G. R. Doshi and Smt. K. M. Mehta Institute of Kidney Diseases and Research Center and Dr. H. L. Trivedi Institute of Transplantation Sciences, Ahmedabad, IND., Mishra V; Department of Obstetrics and Gynecology, Smt. G. R. Doshi and Smt. K. M. Mehta Institute of Kidney Diseases and Research Center and Dr. H. L. Trivedi Institute of Transplantation Sciences, Ahmedabad, IND., Kumari P; Department of Obstetrics and Gynecology Genetics, Smt. G. R. Doshi and Smt. K. M. Mehta Institute of Kidney Diseases and Research Center and Dr. H. L. Trivedi Institute of Transplantation Sciences, Ahmedabad, IND., Sheth H; Department of Obstetrics and Gynecology, Smt. G. R. Doshi and Smt. K. M. Mehta Institute of Kidney Diseases and Research Center and Dr. H. L. Trivedi Institute of Transplantation Sciences, Ahmedabad, IND., Ahmad R; Department of Physiology, Medical College for Women and Hospital, Dhaka, BGD., Haque M; Department of Research, Karnavati Scientific Research Center (KSRC) Karnavati School of Dentistry, Karnavati University, Gandhinagar, IND.; Department of Pharmacology and Therapeutics, National Defence University of Malaysia, Kuala Lumpur, MYS., Kumar S; Department of Periodontology and Implantology, Karnavati School of Dentistry, Karnavati University, Gandhinagar, IND.

Publikováno v: Cureus [Cureus] 2023 Sep 20; Vol. 15 (9), pp. e45584. Date of Electronic Publication: 2023 Sep 20 (Print Publication: 2023).