Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Robert M. Porsch"'
Autor:
Dewi A. Wisnumurti, Yunia Sribudiani, Robert M. Porsch, Ani M. Maskoen, Sri E. Rahayuningsih, Eni K. Asni, Frank Sleutels, Wilfred F. J. van Ijcken, Abdurachman Sukadi, Tri H. Achmad
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-8 (2019)
Abstract Background Neonatal jaundice is a common finding in newborns in Asia, including Indonesia. In some cases, the serum total bilirubin levels exceeds the 95th percentile for hours of life (neonatal hyperbilirubinemia). Severe neonatal hyperbili
Externí odkaz:
https://doaj.org/article/d1ce085b3bcb4a829533e35e13df9828
Autor:
Wilfred F. J. van IJcken, Sri Endah Rahayuningsih, Tri Hanggono Achmad, Abdurachman Sukadi, Frank Sleutels, Dewi A. Wisnumurti, Robert M. Porsch, Eni K. Asni, Yunia Sribudiani, Ani Melani Maskoen
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-8 (2019)
BMC Pediatrics, 19(1):506. BioMed Central Ltd.
BMC Pediatrics
BMC Pediatrics, 19(1):506. BioMed Central Ltd.
BMC Pediatrics
Background Neonatal jaundice is a common finding in newborns in Asia, including Indonesia. In some cases, the serum total bilirubin levels exceeds the 95th percentile for hours of life (neonatal hyperbilirubinemia). Severe neonatal hyperbilirubinemia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c705f083e2191fefadb87129ba9389c
https://doaj.org/article/d1ce085b3bcb4a829533e35e13df9828
https://doaj.org/article/d1ce085b3bcb4a829533e35e13df9828
Publikováno v:
Genetic Epidemiology. 41:469-480
Polygenic scores (PGS) summarize the genetic contribution of a person's genotype to a disease or phenotype. They can be used to group participants into different risk categories for diseases, and are also used as covariates in epidemiological analyse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bae3cf9c382114887614b3adcdd06bc
https://doi.org/10.1002/gepi.22050
https://doi.org/10.1002/gepi.22050
Publikováno v:
Behavior genetics. 50(5)
Recently, methods have been introduced using polygenic scores (PGS) to estimate the effects of genetic nurture, the environmentally-mediated effects of parental genotypes on the phenotype of their child above and beyond the effects of the alleles whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d03c77ca619321801df4bc75f5354e57
https://pubmed.ncbi.nlm.nih.gov/32681386
https://pubmed.ncbi.nlm.nih.gov/32681386
A number of rare variant tests have been developed to explore the effect of low frequency genetic variations on complex phenotypes. However, an often neglected aspect in these tests is the position of genetic variations. Here we are proposing a way t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bd1f870e03029fdd50700a877626b86
Autor:
Anu Loukola, Lea Pulkkinen, Christel M. Middeldorp, Stacey S. Cherny, Catharina E. M. van Beijsterveldt, Eva Krapohl, Tellervo Korhonen, Soo Hyun Rhee, Robert Plomin, Pak C. Sham, Robin P. Corley, Richard R. Rose, Jaakko Kaprio, Robert M. Porsch, John K. Hewitt, Meike Bartels, Dorret I. Boomsma
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 171(5), 697-707. Wiley-Liss Inc.
Porsch, R M P, Middeldorp, C M, Cherny, S S, Krapohl, E, van Beijsterveldt, C E M, Loukola, A, Korhonen, T, Pulkkinen, L, Corley, R P, Rhee, S, Kaprio, J, Rose, R, Hewitt, J K, Sham, P, Plomin, R, Boomsma, D I & Bartels, M 2016, ' Longitudinal heritability of childhood aggression ', American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol. 171, no. 5, pp. 697-707 . https://doi.org/10.1002/ajmg.b.32420
Porsch, R M P, Middeldorp, C M, Cherny, S S, Krapohl, E, van Beijsterveldt, C E M, Loukola, A, Korhonen, T, Pulkkinen, L, Corley, R P, Rhee, S, Kaprio, J, Rose, R, Hewitt, J K, Sham, P, Plomin, R, Boomsma, D I & Bartels, M 2016, ' Longitudinal heritability of childhood aggression ', American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol. 171, no. 5, pp. 697-707 . https://doi.org/10.1002/ajmg.b.32420
The genetic and environmental contributions to the variation and longitudinal stability in childhood aggressive behavior were assessed in two large twin cohorts, the Netherlands Twin Register (NTR), and the Twins Early Development Study (TEDS; United
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9394d4939df7a34956950ee3d28f4a30
https://doi.org/10.1002/ajmg.b.32420
https://doi.org/10.1002/ajmg.b.32420
Polygenic scores (PGS) are estimated scores representing the genetic tendency of an individual for a disease or trait and have become an indispensible tool in a variety of analyses. Typically they are linear combination of the genotypes of a large nu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::377897a138636952963e19e8b5d958fe
Autor:
Abdurachman Sukadi, Eni K. Asni, Dewi A. Wisnumurti, Yunia Sribudiani, Frank Sleutels, Wilfred F. J. van IJcken, Christel E M Kockx, Sri Endah Rahayuningsih, Lola I. Abdulhamied, Robert M. Porsch, Tri Hanggono Achmad, Ani Melani Maskoen
Publikováno v:
BioMed Research International
BioMed Research International. Hindawi Publishing Corporation
BioMed Research International, Vol 2018 (2018)
BioMed Research International. Hindawi Publishing Corporation
BioMed Research International, Vol 2018 (2018)
Neonatal hyperbilirubinemia (NH) is a common finding in newborn babies in Indonesia. Common and rare variants of UGT1A1 have been known to contribute to NH etiology. This study aims to identify UGT1A1 genetic variation and haplotype associated with N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99bfb5f463a00bed02aa43f63f2ef2aa
http://europepmc.org/articles/PMC5828093
http://europepmc.org/articles/PMC5828093
Autor:
Ngoc Diem Ngo, Huimin Xia, Carol Wing Yan Wong, Vincent C.H. Lui, Stacey S. Cherny, Robert M. Porsch, Anwarul Karim, Clara S. Tang, Michelle Yu, Maria-Mercè Garcia-Barceló, Patrick Ho Yu Chung, Miaoxin Li, Jacob Shujui Hsu, Pak C. Sham, Fanny Yeung, Kenneth K. Y. Wong, Ruizhong Zhang, Paul K.H. Tam, Man-Ting So
Publikováno v:
Human molecular genetics. 27(2)
The cloaca is an embryonic cavity that is divided into the urogenital sinus and rectum upon differentiation of the cloacal epithelium triggered by tissue-specific transcription factors including CDX2. Defective differentiation leads to persistent clo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03bd00be38a210e8dd1a85beb37673d4
https://pubmed.ncbi.nlm.nih.gov/29177441
https://pubmed.ncbi.nlm.nih.gov/29177441
Autor:
Valeria Capra, Stacey S. Cherny, Maria-Mercè Garcia-Barceló, Desmond Campbell, G Cheng, Pak C. Sham, Elisa Merello, Paul K.H. Tam, Man-Ting So, Laura Rodriguez, Robert M. Porsch, Patrizia De Marco
Publikováno v:
BMC Medical Genetics
BackgroundCaudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b5dd29c9a3e1055a933c552b893aa9
https://doi.org/10.1101/058578
https://doi.org/10.1101/058578