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    Academic Journals

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• Association of maternal folate with methylene tetrahydrofolate reductase polymorphism relationship in infants <3 months with Down syndrome

  Authors:Pankaj Mohanty and Seema KapoorFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 2014455 words Letter to the editor 1810LByline: Pankaj. Mohanty, Seema. Kapoor Sir, This is in reference to our article published in Indian Journal of Human Genetics titled "Evaluation of C677T polymorphism of the methylenetetrahydrofolate reductase...

• Genetics in psychiatry

  Authors:Shreekantiah Umesh and Shamshul NizamieFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20145,450 words Report 1600LByline: Shreekantiah. Umesh, Shamshul. Nizamie Today, psychiatrists are focusing on genetics aspects of various psychiatric disorders not only for a future classification of psychiatric disorders but also a notion...

• First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis

  Authors:Abbas Sahami, Nourkhoda Sadeghifard, Alireza Monsef, and Hadi PeymanFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20141,265 words Case study, Report 1430LByline: Abbas. Sahami, Nourkhoda. Sadeghifard, Alireza. Monsef, Hadi. Peyman So far, more than 1800 mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this case report, we...

• Ectopia cilia with pedigree analysis: Second case report in the world

  Authors:Tarang Goyal, Anupam Varshney, and S. BakshiFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 2014805 words Report 1310LByline: Tarang. Goyal, Anupam. Varshney, S. Bakshi We present a case of ectopia cilia in a 28-year-old male patient. Ectopia cilia was were seen in the outer third of left upper eyelid. The patient's maternal...

• FLT3 and NPM-1 mutations in a cohort of acute promyelocytic leukemia patients from India

  Authors:Suchitra Swaminathan, Swati Garg, Manisha Madkaikar, Maya Gupta, Farah Jijina, and Kanjaksha GhoshFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20143,235 words Report 1990LByline: Suchitra. Swaminathan, Swati. Garg, Manisha. Madkaikar, Maya. Gupta, Farah. Jijina, Kanjaksha. Ghosh Background: Acute promyelocytic leukemia (APL) with t (15;17) is a distinct category of acute myeloid...

• Phenotypical characterization of 13q deletion syndrome: Report of two cases

  Authors:Eiman Bagherizadeh, Yousef Shafaghati, Fatemeh Hadipour, and Farkhondeh BehjatiFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 2014896 words Case study 1430LByline: Eiman. Bagherizadeh, Yousef. Shafaghati, Fatemeh. Hadipour, Farkhondeh. Behjati Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of...

• Insertion-deletions burden in copy number polymorphisms of the Tibetan population

  Authors:Avinash Veerappa, Sangeetha Vishweswaraiah, Kusuma Lingaiah, N. Murthy, Raviraj Suresh, Keshava Belur, et al.From:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20144,325 words Report 1690LByline: Avinash. Veerappa, Sangeetha. Vishweswaraiah, Kusuma. Lingaiah, N. Murthy, Raviraj. Suresh, Keshava. Belur, Nallur. Ramachandra, Tejaswini, Niveditha. Patel, P. Supriya Gowda Background: Many studies have...

• Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India

  Authors:Vandana Rai, Upendra Yadav, Pradeep Kumar, and Sushil YadavFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20143,447 words Report 1670LByline: Vandana. Rai, Upendra. Yadav, Pradeep. Kumar, Sushil. Yadav Background: Down syndrome (DS) is the most common cause of mental retardation of genetic etiology with the prevalence rate of 1/700 to 1/1000 live...

• Guidelines for screening, diagnosis and management of hemoglobinopathies

  Authors:Kanjaksha Ghosh, Roshan Colah, Mamta Manglani, Ved Choudhry, Ishwar Verma, Nishi Madan, et al.From:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20149,485 words Report 1610LByline: Kanjaksha. Ghosh, Roshan. Colah, Mamta. Manglani, Ved. Choudhry, Ishwar. Verma, Nishi. Madan, Renu. Saxena, Dipty. Jain, Neelam. Marwaha, Reena. Das, Dipika. Mohanty, Rajendra. Choudhary, Sarita. Agarwal, Malay....

• Methylenetetrahydrofolatereductase C677T polymorphism and folate metabolism in human health

  Author:Babu VundintiFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 2014942 words Editorial, Report 1560LByline: Babu. Vundinti Folate is an essential B vitamin that provides one-carbon molecules for DNA synthesis, protein synthesis, and methylation of DNA and proteins. The folate pathway plays a critical role in...

• Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis

  Authors:Rajeev Pandey, Abid Ali, Amit Singh, Sukanya Gayan, and Minu BajpaiFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20142,287 words Report 1560LByline: Rajeev. Pandey, Abid. Ali, Amit. Singh, Sukanya. Gayan, Minu. Bajpai Background: 677C to T allele in the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of various...

• Genetic diversity of 15 autosomal short tandem repeats loci using the AmpFLSTR [sup][R] Identifiler™ kit in a Bhil Tribe Population from Gujarat state, India

  Authors:Ramesh Chaudhari and M. DahiyaFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20141,509 words Report 1580LByline: Ramesh. Chaudhari, M. Dahiya Materials and Methods: The genetic diversity and forensic parameters based on 15 autosomal short tandem repeats (STR) loci; D8S1179,D21S11, D7S820, CSF1PO, D3S1358, TH01,...

• Fetal valproate syndrome

  Authors:Parmarth Chandane and Ira ShahFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 2014904 words Report 1520LByline: Parmarth. Chandane, Ira. Shah Antenatal use of anticonvulsant valproic acid can result in a well-recognized cluster of facial dysmorphism, congenital anomalies and neurodevelopmental retardation. In this...

• Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation

  Authors:Suwansh Meshram, Sheetal Nikose, Shraddha Jain, and Amar TaksandeFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 2014981 words Case study 1290LByline: Suwansh. Meshram, Sheetal. Nikose, Shraddha. Jain, Amar. Taksande We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane's retraction syndrome and congenital deafness. Since the first...

• Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)

  Authors:Suresh Mandrekar, Sangeeta Amoncar, Siddhartha Banaulikar, Vishal Sawant, and R. G W. PintoFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20141,541 words Report 1840LByline: Suresh. Mandrekar, Sangeeta. Amoncar, Siddhartha. Banaulikar, Vishal. Sawant, R. G. W.. Pinto OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca,...

• Prevalence of genetic variants associated with cardiovascular disease risk and drug response in the Southern Indian population of Kerala

  Authors:Lakshmi Mahadevan, Ancy Yesudas, P. Sajesh, S. Revu, Prasanna Kumar, Devi Santhosh, et al.From:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20144,359 words Clinical report 1960LByline: Lakshmi. Mahadevan, Ancy. Yesudas, P. Sajesh, S. Revu, Prasanna. Kumar, Devi. Santhosh, Sam. Santhosh, J. Sashikumar, V. Gopalakrishnan, Joji. Boben, Changanamkandath. Rajesh Background and Aim: This study...

• Mammalian non-classical major histocompatibility complex I and its receptors: Important contexts of gene, evolution, and immunity

  Authors:B. Pratheek, Tapas Nayak, Subhransu Sahoo, Prafulla Mohanty, Soma Chattopadhyay, Ntiya Chakraborty, et al.From:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20146,551 words Report 2360LByline: B. Pratheek, Tapas. Nayak, Subhransu. Sahoo, Prafulla. Mohanty, Soma. Chattopadhyay, Ntiya. Chakraborty, Subhasis. Chattopadhyay The evolutionary conserved, less-polymorphic, nonclassical major...

• Cost-effectiveness analysis for triple markers serum screening for Down's syndrome in Thai setting

  Author:Viroj WiwanitkitFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20141,045 words Report 1370LByline: Viroj. Wiwanitkit Background: Down's syndrome is an important congenital chromosomal disorder that can be seen around the world. The antenatal screening for this disorder is an important processing in present...

• Constitutional mismatch repair deficiency syndrome: Do we know it?

  Authors:C. Ramachandra, Vasu Challa, and Rachan ShettyFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20141,446 words Report 1530LByline: C. Ramachandra, Vasu. Challa, Rachan. Shetty Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is...

• Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature

  Author:Daipayan ChatterjeeFrom:Indian Journal of Human Genetics (Vol. 20, Issue 2) Peer-Reviewed

  April-June 20141,278 words Case study, Report 1470LByline: Daipayan. Chatterjee Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger...