Results 41 to 50 of about 1,409,358 (284)

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Ashcroft, B Schwahn, Clayton, D Cody, Ellard, Freeman, G Mali, I Banerjee, J P H Shield, K Hussain, Molven, N Murphy, O Rubio-Cabezas, R R Kapoor, S E Flanagan, S Ellard, Stanley, T Akcay, T Siahanidou, Thomas   +19 more
core   +2 more sources

HRG C633T polymorphism and risk of gestational hypertensive disorders: a pilot study

BMC Medical Genetics, 2018
Background Preeclampsia and gestational hypertensive disorders are thought to occur due to endothelial cell dysfunction and abnormal placentation, triggered by angiogenesis-related factors yet undetermined.
Evangelia Elenis, Alkistis Skalkidou, Agneta Skoog-Svanberg, Gunilla Sydsjö, Anneli Stavreus-Evers, Helena Åkerud   +5 more
doaj   +1 more source

The association between the rs4987105 of 5-lipoxygenase (ALOX5) gene and gestational glucose metabolism in Chinese population

BMC Research Notes, 2020
Objective The arachidonate 5-lipoxygenase (ALOX5) pathway has been investigated in diverse chronic inflammatory diseases including metabolic disorders. Recently, the ALOX5 polymorphism rs4987105 was identified to confer susceptibility to type 2 diabetes ...
Xi Li, Jindi Su, Shiguo Chen, Sheng Lin, Xiujie Zheng, Baojiang Wang, Keqin Yao, Liping Lai, Shan Duan   +8 more
doaj   +1 more source

A genetic approach to study the relationship between maternal Vitamin D status and newborn anthropometry measurements: the Vitamin D pregnant mother (VDPM) cohort study [PDF]

, 2020
Purpose Adverse effects of maternal vitamin D deficiency have been linked to adverse pregnancy outcomes. We investigated the relationship between maternal vitamin D status and newborn anthropometry measurements using a genetic approach and examined the ...
Aji, Arif Sabta, Alathari, Buthaina, Erwinda, Erwinda, Lipoeto, Nur Indrawaty, Lovegrove, Julie Anne, Malik, Safarina G., Rasyid, Rosfita, Vimaleswaran, Karani Santhanakrishnan, Yusrawati, Yusrawati   +8 more
core   +1 more source

An expert consensus for the management of chronic hepatitis B in Asian Americans. [PDF]

, 2018
BACKGROUND: Hepatitis B virus (HBV) infection is common with major clinical consequences. In Asian Americans, the HBsAg carrier rate ranges from 2% to 16% which approximates the rates from their countries of origin.
Abbas, Abbas, Ahn, Beasley, Beasley, Bisceglie, Bogr, Brown, Buti, Centers for Disease Control, Chae, Chan, Chang, Chang, Chang, Chang, Chang, Chao, Chaung, Chen, Chen, Chen, Chen, Chi, Chien, Choe, Chu, Clemente, Della Corte, European Association for the Study of the Liver, Evans, Fang, Fattovich, Fontana, Fung, Gish, Hadziyannis, Halperin, Hann, Heathcote, Hongthanakorn, Hoofnagle, Hu, Huang, Hung, Hyun, Iino, Iloeje, Jeng, Keeffe, Kim, Komatsu, Konstantinou, Kowdley, Kuo, Kwong, Lai, Lai, Lai, Lai, Lampertico, Lau, Lau, Lee, Lee, Liang, Liaw, Liaw, Liaw, Liew, Lin, Lin, Lin, Liu, Liu, Liu, Lok, Lok, Lok, Loomba, MacLachlan, Manegold, Marcellin, Marcellin, Marcellin, Marcellin, Marcellin, Marcellin, Martin, Martin-Carbonero, Mast, McClune, McMahon, Mitchell, Monte, Murata, Mutimer, Nafa, Nguyen, Nguyen, Nikolopoulos, Pan, Pan, Pan, Pan, Pan, Pan, Pan, Pan, Pan, Pan, Papatheodoridis, Park, Park, Park, Patterson, Perrillo, Perrillo, Pollack, Prati, Qiu, Reijnders, Sarin, Seto, Seto, Sherman, Shim, Shiraki, Sinatra, Sinn, Soriano, Stevens, Takano, Takayama, Takkenberg, Terrault, Thibault, Thio, Tong, Tong, Tong, Tong, Tong, Tong, Tong, Tong, Tong, Tong, Tong, Tong, Tong, Tong, Tse, Wang, Wedemeyer, Wei, Wen, Wiseman, Wursthorn, Xie, Xu, Yi, Yi, Yu, Yu, Yuen, Yuen, Yuen, Yuen, Yuen, Zhang, Zhang, Zhang, Zou   +173 more
core   +2 more sources

Genetic Variation in FADS Genes and Plasma Cholesterol Levels in 2-Year-Old Infants [PDF]

, 2013
Single nucleotide polymorphisms (SNPs) in genes involved in fatty acid metabolism (FADS1 FADS2 gene cluster) are associated with plasma lipid levels. We aimed to investigate whether these associations are already present early in life and compare the ...
Heinrich, Joachim, Jansen, Eugène, Koppelman, Gerard H., Mensink, Ronald P., Moltó-Puigmartí, Carolina, Mommers, Monique, Penders, John, Plat, Jogchum, Postma, Dirkje S., Standl, Marie, Thijs, Carel   +10 more
core   +1 more source

On the origin of trisomy 21 Down syndrome [PDF]

, 2008
Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Hultén, Maj A., Iwarsson, Erik, Jonsson, Anna Maria, Papadogiannakis, Nikos, Patel, Suketu D., Tankimanova, Maira, Westgren, Magnus   +6 more
core   +2 more sources

Experimental Zika Virus Infection in the Pregnant Common Marmoset Induces Spontaneous Fetal Loss and Neurodevelopmental Abnormalities. [PDF]

, 2018
During its most recent outbreak across the Americas, Zika virus (ZIKV) was surprisingly shown to cause fetal loss and congenital malformations in acutely and chronically infected pregnant women.
Aagaard, Kjersti M, Castro, Eumenia CC, Chiu, Charles Y, Giavedoni, Luis, Hodara, Vida L, Layne-Colon, Donna, Li, Tony, Martyn, Calla, Parodi, Laura M, Patterson, Jean L, Reyes, Kevin, Rutherford, Julienne, Seferovic, Maxim, Suter, Melissa A, Sánchez-San Martín, Claudia, Tamhankar, Manasi, Tardif, Suzette D, Yagi, Shigeo   +17 more
core   +2 more sources

A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5

Molecular Cytogenetics, 2018
Background Balanced translocations may cause the loss of genetic material at the breakpoints and may result in failure of spermatogenesis. However, carriers of reciprocal translocation may naturally conceive.
Hong-Guo Zhang, Rui-Xue Wang, Yuan Pan, Han Zhang, Lei-Lei Li, Hai-Bo Zhu, Rui-Zhi Liu   +6 more
doaj   +1 more source

Immunologic response to vaccine challenge in pregnant PTPN22 R620W carriers and non-carriers. [PDF]

PLoS ONE, 2017
Influenza infection is a significant cause of respiratory morbidity among pregnant women. Seasonal influenza vaccination engages innate immune receptors to promote protective immunity.
Shelly H Tien, Juliet N Crabtree, Heather L Gray, Erik J Peterson   +3 more
doaj   +1 more source