Effect of the novel Moroccan BRCA1 and BRCA2 frameshift mutations
Amal Tazzite, Hassan Jouhadi, Khalil Hamzi, Abdellatif Benider, Sellama NadifiIndian Journal of Human Genetics 2013 19(2):274-275 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Amal TazziteHassan JouhadiKhalil HamziAbdellatif BeniderSellama Nadifi Source Type: research
Large scale meta-analysis of genetic studies in ischemic stroke: Five genes involving 152,297 individuals
Khalil Hamzi, Bréhima Diakité, Amal Tazzite, Sellama NadifiIndian Journal of Human Genetics 2013 19(2):273-274 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Khalil HamziBréhima DiakitéAmal TazziteSellama Nadifi Source Type: research
Micro-RNAs in IVF outcome
Saeid Ghorbian, Ahmad Poursadegh ZonouziIndian Journal of Human Genetics 2013 19(2):273-273 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Saeid GhorbianAhmad Poursadegh Zonouzi Source Type: research
Sclerosterosis (Truswell-Hansen disease)
S Deepak Amalnath, M VivekanandanIndian Journal of Human Genetics 2013 19(2):270-272Sclerosteosis or Truswell-Hansen disease is a rare autosomal recessive disorder characterized by dense bones, tall stature, and syndactyly. Most of the reports are from South Africa. Here we report the first such case from India. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: S Deepak AmalnathM Vivekanandan Source Type: research
A case of Kartagener's syndrome: Importance of early diagnosis and treatment
We present a case of 12 year old boy with sinusitis, situs inversus and bronchiectasis. The correct diagnosis of this rare congenital autosomal recessive disorder in early life is important in the overall prognosis of the syndrome, as many of the complications can be prevented if timely management is instituted, as was done in this in this case. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Sanjay GuptaKumud K HandaRavi R KasliwalPankaj Bajpai Source Type: research
Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping
Prabhat Ranjan, Kundanbala Desai, Shailaja Gada SaxenaIndian Journal of Human Genetics 2013 19(2):262-265The presence of derivative chromosome in a child with phenotypic features necessitates the need of parental karyotyping to ascertain the exact amount of loss or gain of the genetic material. The aim of this study was to emphasize the importance of parental karyotyping. Cytogenetic evaluation of the proband and his father were carried out at Laboratory. Cytogenetic analysis was performed on phytohemagglutinin stimulated cultures. The derivative chromosome 11 in proband was ascertained to have additional material from chr...
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Prabhat RanjanKundanbala DesaiShailaja Gada Saxena Source Type: research
Early diagnosis of co-existent ß-thalassemia and alkaptonuria
We report a case of alkaptonuria an autosomal recessive disorder that occurs due to deficiency of homogentisic acid oxidasein a β-thalassemia infant presenting with reddish discoloration of nappies and clothes, breath holding spells, and microcytic hypochromic anemia. Born to consanguineous cousins, to our knowledge, the combination of β-thalassemia and alkaptonuria, which we have described in this baby, has not been reported earlier. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Moushumi LodhJoshi A Kerketta Source Type: research
Comparison of in-vitro and in-vivo response to fetal hemoglobin production and γ-mRNA expression by hydroxyurea in Hemoglobinopathies
Conclusion: Thus, this method may help to predict the in-vivo response to hydroxyurea therapy; however, a much larger study is required. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Khushnooma ItaliaFarah JijinaRashid MerchantSuchitra SwaminathanAnita NadkarniMaya GuptaKanjaksha GhoshRoshan Colah Source Type: research
Genetic and environmental effects on age at menarche, and its relationship with reproductive health in twins
Conclusion: It is concluded that twin models provide a powerful means of examining the total genetic contribution to age of menarche. Longitudinal studies of twins may clarify the type of environmental effects that determine the age of menarche. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Shayesteh JahanfarMunn-Sann LyeIsthrinayagy S Krishnarajah Source Type: research
Association between PRO12ALA polymorphism of the PPAR-γ2 gene and type 2 diabetes mellitus in Iranian patients
Conclusion: The present study suggests that polymorphism of PPAR-γ2 gene is associated with T2DM. Furthermore, Ala allele is significantly found in non-diabetic individual's Iranian population. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Azadeh MotavallianSasan AndalibGolnaz VaseghiHamid Mirmohammad-SadeghiMasoud Amini Source Type: research
The effect of FokI vitamin D receptor polymorphism on bone mineral density in Jordanian perimenopausal women
Conclusion: FokI polymorphism may be associated with low BMD in our studied population; however, further studies including other polymorphisms and large sample number are needed. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Raed M Kanan Source Type: research
Human leukocyte antigen alleles, genotypes and haplotypes frequencies in renal transplant donors and recipients from West Central India
Conclusion: This study will be helpful in suitable donor search besides providing valuable information for population genetics and HLA disease association analysis. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Jaina S PatelManisha M PatelPrakash G KoringaTejas M ShahAmrutlal K PatelAjai K TripathiAnila MathewMohan M RajapurkarChaitanya G Joshi Source Type: research
Angiotensin II type 1 receptor A1166C gene polymorphism and essential hypertension in Calabar and Uyo cities, Nigeria
Conclusion: The A1166C polymorphism was not a predictor of hypertension in the sample population of Calabar and Uyo. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Mary Esien KooffrehChiaka Ijeoma AnumuduRoseline DukeElza Cletus OkpakoP Lava Kumar Source Type: research
Unique pattern of mutations in β-thalassemia patients in Western Uttar Pradesh
Conclusion: This study provides evidence that the pattern of mutations in Western U.P. is different from the rest of India and even from the neighboring states (Delhi and Punjab). To the best of our knowledge, mutation Fr8/9, the 2 nd most common mutation in our study has never been reported to be so common from anywhere in India. Some mutations, which are prevalent in other regions are absent in our region (mutation for ε-globin). Hence, these findings can be called unique to Western U.P. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Ajay F ChristopherAnita KumariSunali ChaudharySandhya HoraZiledar AliSatish C Agrawal Source Type: research
Proteus syndrome: Clinical profile of six patients and review of literature
Conclusion: Due to certain overlapping features with other overgrowth syndromes, diagnosis of PS is usually delayed. Pediatricians are the first persons who come across such patients and they should be aware about this rare condition. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - August 5, 2013 Category: Genetics & Stem Cells Authors: Suresh Kumar AnguranaRenu Suthar AnguranaInusha PanigrahiRam Kumar Marwaha Source Type: research
