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- 1From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Manzoor. Malik, Showkat. Zargar, Balraj. Mittal Background: Caspase-8 (CASP8) is a key regulator of apoptosis or programmed cell death, an essential defense mechanism against hyperproliferation and...
- 2From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Viroj. Wiwanitkit Sir, An important problem in reproductive medicine is infertility. Many genetic disorders are mentioned as possible causes of human reproductive problem. [sup][1],[2] p53 codon 72...
- 3From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: N. Swapna, U. Vamsi, G. Usha, T. Padma Background : The vitamin D receptor (VDR) gene serves as a good candidate gene for susceptibility to several diseases. The gene has a critical role in regulating the...
- 4From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Ajit. Gorakshakar, Roshan. Colah Hemoglobinopathies impose a significant burden on global healthcare. Approximately 5-7% of the global population carries a potentially pathological hemoglobin gene. This...
- 5From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Priyanka. Khurana, Aastha. Aggarwal, Suraj. Huidrom, Gautam. Kshatriya Background : Gujarat is located at the western most point of the Indian subcontinent. Valsad and Surat districts are part of the 'tribal...
- 6From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Nagwa. Ismail, Nermeen. Metwaly, Fatma. El-Moguy, Mona. Hafez, Soha. Abd El Dayem, Tarek. Farid Background: Multiple factors affect the growth response to recombinant human growth hormone (rhGH) in children...
- 7From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Abdel-Hady. El-Gilany, Sohier. Yahia, Mohamed. Shoker, Faeza. El-Dahtory Background: Down syndrome (DS) is the most common chromosomal disorder. It has three chromosomal patterns. Aim: To determine the...
- 8From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Syed. Mehdi, Badr. Al Dahmash Background and Aims : Saudi Arabia falls in the high prevalent zone of aa and [sz] thalassemias. Early screening for the type of thalassemia is essential for further...
- 9From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: N. Nagaveni, K. Umashankara Sir, We herein present a case of Hay-Wells syndrome (OMIM 106260), a rare genetic disorder. A 14-year-old female child was brought with complaint of missing teeth. The patient...
- 10From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: R. Rajendran, Saleem. Shaikh, Sukumaran. Anil Background : Cleft lip with or without cleft palate (CL/P) is the most frequent craniofacial malformation seen in man. The etiology of CL/P is complex involving...
- 11From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Koushik. Chattopadhyay Cervical cancer is the second most common cancer in women worldwide. This is caused by oncogenic types of human papillomavirus (HPV) infection. Although large numbers of young sexually...
- 12From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Babu. Vundinti, Kanjaksha. Ghosh The chromosomal basis of Down syndrome (DS), trisomy 21, has been recognized for half a century [sup][1] and various hypotheses such as gamete aging, production line...
- 13From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: R. Makroo, Mohit. Chowdhry, Manoj. Mishra, Priyanka. Srivastava, Ashish. Fauzdar We report a case of an elderly 68-year-old male who presented in our hospital with chief complaints of petechial rashes and...
- 14From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: P. Vinoth, Betty. Chacko, J. Xavier Scott, Venkatasai. Aicardi syndrome is a genetic disorder characterized by the triad of infantile spasm in flexion, callosal agenesis and ocular abnormalities...
- 15From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: D. Rao, G. Manjula, K. Sailaja, D. Surekha, D. Raghunadharao, Senthil. Rajappa, S. Vishnupriya Background : CYP3A5 was observed to be an important genetic contributor to inter individual differences in...
- 16From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Sanjit. Mukherjee, Keya. Chaudhuri Sir, The recent paper of Parihar and Chauhan [sup][1] in your journal showed that the frequencies of different polymorphs of NQO1 genes were statistically distinct in the...
- 17From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Helmi. Alfarra, Sabreen. Alfarra, Mai. Sadiq Neural tube defects (NTDs) are the second most common severely disabling human congenital defects. Worldwide, NTDs incidence is approximately one per 1000 live...
- 18From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Raminderjeet. Kaur, Satbir. Kaur, Mukesh. Lata Background : Pesticides are used in agriculture to protect crops, but they pose a potential risk to farmers and environment. The aim of the present study is to...
- 19From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-Reviewed
A novel mutation (4040-4045 nt. delA) in exon 14 of the factor VIII gene causing severe hemophilia A
Byline: Habib. Onsori, Mohammad Ali. Feizi, Abbas Ali. Feizi Hemophilia A is an X-linked congenital bleeding disorder caused by Factor VIII deficiency. Different mutations including point mutations, deletions,... - 20From: Indian Journal of Human Genetics. (Vol. 17, Issue 3) Peer-ReviewedByline: Keyhan. Zanjani, Ali. Zeinaloo, Hassan. Radmehr Congenital heart diseases are a major part of Costello and cardio-facio-cutaneous syndromes. Subaortic stenosis was reported rarely and Ross operation never in...