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    Academic Journals

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• Association of single nucleotide polymorphisms of CACNA1A gene in migraine

  Authors:Aadil Bashir, Shiekh Saleem, Maqbool Wani, Roohi Rasool, Irfan Wani, Azhara Gulnar, et al.From:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20142,881 words Report 1590LByline: Aadil. Bashir, Shiekh. Saleem, Maqbool. Wani, Roohi. Rasool, Irfan. Wani, Azhara. Gulnar, Sawan. Verma Introduction: Migraine is a chronic, neurovascular polygenic disease where genetic and environmental...

• Reactive metabolites and antioxidant gene polymorphisms in type 2 diabetes mellitus

  Authors:Monisha Banerjee and Pushpank VatsFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20144,891 words Report 1780LByline: Monisha. Banerjee, Pushpank. Vats Type 2 diabetes mellitus (T2DM), by definition is a heterogeneous, multifactorial, polygenic syndrome which results from insulin receptor (IR) dysfunction. It is an outcome...

• Glucose 6-phosphate dehydrogenase deficiency in Muslim community settled in Jaunpur district

  Authors:Vandana Rai and Pradeep KumarFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 2014558 words Report 1550LByline: Vandana. Rai, Pradeep. Kumar Sir, Glucose 6-phosphate dehydrogenase (G6PD) deficiency is the commonest X-linked genetic defect, affecting 400 million people worldwide and predisposes affected individuals...

• Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt

  Authors:Mohammad Al-Haggar, Sohier Yahia, Dina Abdel-Hady, Afaf Al-Saied, Rasha Al-Kenawy, and Rabab Abo-El-KasemFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20143,804 words Article 1730LByline: Mohammad. Al-Haggar, Sohier. Yahia, Dina. Abdel-Hady, Afaf. Al-Saied, Rasha. Al-Kenawy, Rabab. Abo-El-Kasem Background: Familial Mediterranean fever (FMF) is autosomal recessive disease that affects people...

• Genes and oral cancer

  Authors:Sunit Jurel, Durga Gupta, Raghuwar Singh, Mrinalini Singh, and Shilpi SrivastavaFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20143,998 words Clinical report 1910LByline: Sunit. Jurel, Durga. Gupta, Raghuwar. Singh, Mrinalini. Singh, Shilpi. Srivastava Oral cancers have been one of the leading causes of deaths particularly in the developing countries. Prime reason for this...

• [beta]-thalassemia and alkaptonuria

  Authors:Sora Yasri and Viroj WiwanitkitFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 2014169 words Brief article, Repor... 1640LByline: Sora. Yasri, Viroj. Wiwanitkit Sir, The report on "[sz]-thalassemia and alkaptonuria" is very interesting. [sup][1] Lodh and Kerketta reported a case of the combination of [sz]-thalassemia and alkaptonuria...

• Pattern of chromosome involvement in childhood hyperdiploid pre-B-cell acute lymhoblastic leukemia cases from India

  Authors:Lily Kerketta, Vundinti Baburao, and Kanjaksha GhoshFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20142,511 words Case study 1580LByline: Lily. Kerketta, Vundinti. Baburao, Kanjaksha. Ghosh Background: Hyperdiploid pre-B-cell acute lymhoblastic leukemia (pre-B-ALL) is a common form of childhood leukemia with very good prognosis with present day...

• Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies

  Authors:Abdelhafid Natiq, Siham Elalaoui, Thomas Liehr, and Abdelaziz SefianiFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20141,126 words Case study 1600LByline: Abdelhafid. Natiq, Siham. Elalaoui, Thomas. Liehr, Said. Amzazi, Abdelaziz. Sefiani Chromosomal heteromorphisms are described as interindividual variation of chromosomes without phenotypic consequence....

• Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter

  Authors:D.. Chopade, Harish Harde, Pallavi Ugale, and Sandesh ChopadeFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20141,200 words Case study 1420LByline: D.. Chopade, Harish. Harde, Pallavi. Ugale, Sandesh. Chopade Rearrangements between homologous chromosomes are extremely rare and manifest mainly as monosomic or trisomic offsprings. There are remarkably few...

• Neurotransmitters in alcoholism: A review of neurobiological and genetic studies

  Author:Niladri BanerjeeFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20147,501 words Report 1560LByline: Niladri. Banerjee Recent advances in the study of alcoholism have thrown light on the involvement of various neurotransmitters in the phenomenon of alcohol addiction. Various neurotransmitters have been...

• Chronic myeloid leukemia in case of Klinefelter syndrome

  Authors:Vasundhara Chennuri, Rajesh Kashyap, Parag Tamhankar, and Subha PhadkeFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20141,702 words Case study 1530LByline: Vasundhara. Chennuri, Rajesh. Kashyap, Parag. Tamhankar, Subha. Phadke Klinefelter syndrome (KS) is a sex chromosome disorder and has been reported to be associated with increased risk for malignancies. We...

• Raine syndrome

  Authors:B.. Vishwanath, K.. Srinivasa, and M.. ShankarFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 2014836 words Case study 1590LByline: B.. Vishwanath, K.. Srinivasa, M.. Shankar Raine syndrome is a rare genetic disorder with characteristic features of exophthalmos, choanal atresia or stenosis, osteosclerosis and cerebral calcifications. Most...

• Split-hand/feet malformation in three tamilian families and review of the reports from India

  Authors:S.. Amalnath, Maya Gopalakrishnan, and Tarun DuttaFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20141,467 words Case study 1120LByline: S.. Amalnath, Maya. Gopalakrishnan, Tarun. Dutta Split-hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal...

• Association study of the ABCC8 gene variants with type 2 diabetes in south Indians

  Authors:Radha Venkatesan, Dhanasekaran Bodhini, Nagarajan Narayani, and Viswanathan MohanFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20143,253 words Report 1440LByline: Radha. Venkatesan, Dhanasekaran. Bodhini, Nagarajan. Narayani, Viswanathan. Mohan Background: The ABCC8 gene which encodes the sulfonylurea receptor plays a major role in insulin secretion and is a potential...

• Berardinelli-Seip syndrome type 1 in an Egyptian child

  Authors:Kotb Metwalley and Hekma FarghalyFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20141,928 words Case study 1430LByline: Kotb. Metwalley, Hekma. Farghaly Berardinelli-Seip syndrome type 1 or Berardinelli-Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia,...

• A novel chromosomal abnormality t (9;14)(p24;q13) in B-acute lymphoblastic leukemia

  Authors:Sureshkumar Raveendran, Santhi Sarojam, Geetha Narayanan, and Hariharan SreedharanFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20141,359 words Case study 1550LByline: Sureshkumar. Raveendran, Santhi. Sarojam, Geetha. Narayanan, Hariharan. Sreedharan Acute lymphoblastic leukemia is a malignant disease of the bone marrow in which early lymphoid precursors proliferate and...

• Paraoxonase1, its Q192R polymorphism and HDL-cholesterol in relation to intensive cardiac care unit stay in ischemic heart disease

  Authors:Mahesh Hampe and Mukund MogarekarFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20144,105 words Report 1470LByline: Mahesh. Hampe, Mukund. Mogarekar Aims And Objectives: The present study was evaluated the atheroprotective potential of paraoxonase1 (PON1) and its Q192R polymorphism, to determine whether this polymorphism,...

• A comprehensive analysis of breakpoint cluster region-abelson fusion oncogene splice variants in chronic myeloid leukemia and their correlation with disease biology

  Author:Zafar IqbalFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20142,845 words Report 1790LByline: Zafar. Iqbal Background: BCR-ABL fusion oncogene is a hallmark of Chronic Myeloid Leukemia (CML). It results due to translocation between chromosome 22 and chromosome 9 [t (9; 22)(q34; q11)]. It gives rise to...

• Familial Mediterranean fever: An unusual disease enlightening the inflammation biology

  Author:Kanjaksha GhoshFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 20141,399 words Report 1850LByline: Kanjaksha. Ghosh Familial Mediterranean fever (FMF) is an unusual and rare disease. In this disease paroxysms of fever lasting for few days coupled with inflammation of serous membranes such as peritoneal,...

• Poland syndrome

  Authors:Chandra Sharma, Shrawan Kumar, Manoj Meghwani, and Ravi AgrawalFrom:Indian Journal of Human Genetics (Vol. 20, Issue 1) Peer-Reviewed

  January-March 2014939 words Case study 1450LByline: Chandra. Sharma, Shrawan. Kumar, Manoj. Meghwani, Ravi. Agrawal Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major...