THE JOURNAL GRANTS TO USERS’ OPEN ACCESS ONLINE OF THE FULL TEXT FROM START OF PUBLICATION - YEAR 2001-ONWARDS

VOLUME 16                                CONTENTS                                      2016

VOLUME 16, Number 1,2                                                         MARCH, june  2016

 

INFORMATION ABOUT JOURNAL

 

Betul Eser, Olcay Eser, Nejdet Simsek, Erdogan Bulbul and Mustafa Guven • Increased Expression of Matrix Metalloproteinases in Ligamentum Flavum Hypertrophy of the Patients with  Lumbar Spinal Stenosis

1-9

DOI: 10.31901/24566330.2016/16.1-2.01

[Abstract] [Full Text - PDF]

 

Chaverri-Fernández, José Miguel, Ortiz-Ureña, Angie, Díaz-Madriz José Pablo,  Alvarado-Leitón, Jeimy, García-Chaves, Sergio, Garro-Zamora, Luis David,  Arias-Echandi and María Laura • Genetic Polymorphism of Cytochrome P450 2D6*4 and 2D6*5 in an Adult Population Sample from Costa Rica

10-15

DOI: 10.31901/24566330.2016/16.1-2.02

[Abstract] [Full Text - PDF]

 

Özge Karadag and Serpil Aktas • Testing the Trend for Genotype Distribution of Hypertension Patients in Case-Control Studies

16-21

DOI: 10.31901/24566330.2016/16.1-2.03

[Abstract] [Full Text - PDF]

 

L. Cathrine Sofia, P. Chinnaswami and K. Mahalingam • Heterochromatin Variations in Infertile Men

22-29

DOI: 10.31901/24566330.2016/16.1-2.04

[Abstract] [Full Text - PDF]

 

Orgul Gokcen, Demirel Mehmet, Aydin Emine, Alikasifoglu Mehmet  and Beksac M. Sinan • An Overview of Prenatal Screening/Diagnosis Programs for Down Syndrome in Turkey

29-34

DOI: 10.31901/24566330.2016/16.1-2.05

[Abstract] [Full Text - PDF]

 

Iveta Boronova, Jarmila  Bernasovska, Peter Ferenc, Viktoria Szabadosova and Eva Petrejcikova • Cytogenetic Abnormalities in Infertile Men in the  Prešov Region (Slovakia)

35-39

DOI: 10.31901/24566330.2016/16.1-2.06

[Abstract] [Full Text - PDF]

 

Sonay Temurhan, Zeynep Tamay, Hakan Gurkan, Sebahat Akgul, Deniz Ozceker, Cigdem Kekik, Penbe Cagatay, Filiz Aydin  and Nermin Guler • The Effect of TGFB1 and CD14 Gene Polymorphisms on the Clinical Findings of Cystic Fibrosis in Turkish Patients

40-47

DOI: 10.31901/24566330.2016/16.1-2.07

[Abstract] [Full Text - PDF]

 

Mahmoud Shekari Khaniani, Fateme Afkhami, Fatemeh Abbasalizadeh and  Sima Mansoori Derakhshan • Evaluation of Thrombophilic Genes in Recurrent Pregnancy Loss: A Case-control Study in Iranian Women

48-52

DOI: 10.31901/24566330.2016/16.1-2.08

[Abstract] [Full Text - PDF]

 

Lingjun Zuo, Zhiren Wang, Yunlong Tan, Xiangning Chen 3 and Xingguang Luo • PIRNAs and Their Functions in the Brain

53-60

DOI: 10.31901/24566330.2016/16.1-2.09

[Abstract] [Full Text - PDF]

 

Shailesh Bajaj, Sheela Nampoothiri, Dhanya Yesodharan, Prakash Gambhir and  Suvidya Ranade • Heterozygous Complete NIPBL Gene Deletion in Cornelia de Lange Syndrome: First Case Report from India

61-69

DOI: 10.31901/24566330.2016/16.1-2.10

[Abstract] [Full Text - PDF]

 

Liang Wang, Xiaojing Zhang, Peng Yin, Yan Gao, Yuan Zhang, Xianling Feng,  Si Chen, Huimin Yu, Weiling Huang, Yong Huang, Qianhe Jian, Zhenfu Zhao,  Xinmin Fan and Zhe Jin • Aberrant Methylation of HLTF Gene in Human Esophageal Cancer

70-76

DOI: 10.31901/24566330.2016/16.1-2.11

[Abstract] [Full Text - PDF]

 

VOLUME 16, Number 3, 4                                      SEPTEMBER, NOVEMBER 2016

 

SPECIAL ISSUE (NO. 13)

 

Genetic Counselling

 

Radha Saraswathy and Sawona Biswas

(Guest Editors)

 

Foreword

iii

[Text - PDF]

 

Editorial

v-vi

[Text - PDF]

 

Maya Thangavelu • Genetic Counseling in Developing Countries

86-88

DOI: 10.31901/24566330.2016/16.3-4.01

[Abstract] [Full Text - PDF]

 

Usha P. Dave • Genetic Counseling in Developmental Disability

89-97

DOI: 10.31901/24566330.2016/16.3-4.02

[Abstract] [Full Text - PDF]

 

Manjima Chatterjee, Pramod Chinder,  Ashraf U. Mannan,, M.L. Sheela, Upasana Mukherjee,,  Sheuli Choudhury, Caroline Lo, Suhasini Singh, Jaya Singh,  Diganta Hazarika, Shilpa Prabhudesai, Vaijayanti Gupta, Sateesh S. Kunigal, Shiva Kumar Swamy ,Vijay Agrawal, Ajai Kumar and Mithua Ghosh • Genotype-Phenotype Analysis in an Indian Family Affected with Li-Fraumeni Syndrome-Role of Genetic Counselling

98-106

DOI: 10.31901/24566330.2016/16.3-4.03

[Abstract] [Full Text - PDF]

 

K. Sasikala, S. Suresh Kumar, B. Balamuralikrishnan, M. Arun, A. Karthickkumar, A. Mustaq Ahmad, K. Shankar, V. Dhivya, N. Srilakshmiprabha, S. Mohana Devi and  V. Balachandar • Cytogenetic Analysis and Screening of ApoE and Neurotransmitters in Alzheimer’s Patients in Tamil Nadu Population

107-115

DOI: 10.31901/24566330.2016/16.3-4.04

[Abstract] [Full Text - PDF]

 

Udayakumar Narasimhan, Vidya Krishna, Shruthi Mohan, Solomon F.D. Paul and Teena Koshy • Transmission of Cri-du-Chat Syndrome from a Normal Paternal Chromosome Translocation Carrier

116-119

DOI: 10.31901/24566330.2016/16.3-4.05

[Abstract] [Full Text - PDF]

 

Manjima Chatterjee, M. L. Sheela, Upasana Mukherjee, Shekar Patil, C.T. Satheesh,  Krithika Murugan, Radheshyam Naik, Nalini Rao, B. Mahesh, U. Ashraf  Mannan, Vaijayanti Gupta, Satish Sankaran,  B. S. Ajaikumar and Mithua Ghosh • Incidental Findings in Male Breast Carcinoma: A Genetic Counseling Approach

120-127

DOI: 10.31901/24566330.2016/16.3-4.06

[Abstract] [Full Text - PDF]

 

V. Dhivya, L.Anand, N. Srilakshmiprabha, M. Sangeetha, B.Venkatesh and V. Balachandar • Polymorphism of IL10RA (S159G) Associated with Late-Onset  Ulcerative Colitis

128-131

DOI: 10.31901/24566330.2016/16.3-4.07

[Abstract] [Full Text - PDF]

 

V. Balachandar, S. Ramkumar, Uma Maheswari, M. Gomathi, N. Laleethambika, B. Srija, T. Suguna, B. Geetha and K. Sasikala • Mutational Analysis in Dystrophin Gene with Dystrophinopathy: A Novel Familial Case Report in Tamil Nadu

132-134

DOI: 10.31901/24566330.2016/16.3-4.08

[Abstract] [Full Text - PDF]

 

Nishu Sekar , Radhika Samak , Shreya Patil, Neha Ghorpade, Ramya Rayapati, Prachi Inamdar and V. G. Abilash • Impact of a Genetic Counseling Replica on Parents of Children with  Down Syndrome: A South Indian Cohort Study

135-140

DOI: 10.31901/24566330.2016/16.3-4.09

[Abstract] [Full Text - PDF]

 

L. Anand, V. Padmavathi, B. Venkatesh, K.S. Santhy, M. Sangeetha, K. Sasikala and V. Balachandar • Population Screening of K-ras Gene and Genetic Counselling for Patients Affected with Ampulla of Vater in Tamil Nadu

141-147

DOI: 10.31901/24566330.2016/16.3-4.10

[Abstract] [Full Text - PDF]

 

Bibhas Kar and Subbiah Sivamani • Directory of Genetic Test Services and Counselling Centres in India

148-155

DOI: 10.31901/24566330.2016/16.3-4.11

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V. Dhivya, S.Ramkumar, D. Illakiyapavai, M. Sangeetha, S. Ganesan, S. Mohana Devi, K. Sasikala and V. Balachandar • Screening of Genetic Mutations in Early Onset Parkinsonism Patients:  A Family Based Study in Tamil Nadu Population

156-163

DOI: 10.31901/24566330.2016/16.3-4.12

[Abstract] [Full Text - PDF]

 

N. Laleethambika, Mahfrid N. Dharwadkar, K. S. Santhy, M. Sangeetha, D. Silambuchelvi and V. Balachandar • Evaluation of M2/ANXA5 Haplotype and P53 Codon 72 Polymorphism in a Patient with Recurrent Pregnancy Loss, Ectopic Pregnancy and Recurrent Implantation Failure

164-169

DOI: 10.31901/24566330.2016/16.3-4.13

[Abstract] [Full Text - PDF]

 

Manjima Chatterjee and Radha Saraswathy • Genetic Counselling: A Tool to Resolve Ethical and Social Issues Related to Birth Defects

170-178

DOI: 10.31901/24566330.2016/16.3-4.14

[Abstract] [Full Text - PDF]

 

Index

181-183

[Text - PDF]