Results 31 to 40 of about 1,396,987 (288)

Congenital high airway obstruction syndrome (CHAOS) combined with esophageal atresia, tracheoesophageal fistula and duodenal atresia

Journal of Pediatric Surgery Case Reports, 2017
Congenital high airway obstruction syndrome (CHAOS) is a rare congenital anomaly and the most common etiology is laryngeal atresia. Recently, an increasing number of cases have survived due to prenatal diagnosis and pre- and peri-natal care including ex ...
Yutaka Kanamori, Toshiko Takezoe, Kazunori Tahara, Toshihiko Watanabe, Michinobu Ohno, Kotaro Tomonaga, Katsuhiro Ogawa, Tomoro Hishiki, Akihiro Fujino, Yuri Ozawa, Shoichiro Amari, Hideshi Fujinaga, Yushi Ito, Osamu Miyazaki, Noriko Morimoto, Rika Sugibayashi, Katsusuke Ozawa, Seiji Wada, Haruhiko Sago   +18 more
doaj   +1 more source

Elevated fetal steroidogenic activity in autism [PDF]

, 2014
Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor.
Abdallah, M W, Auyeung, B, Baron-Cohen, S, Chakrabarti, B, Cohen, A S, Hougaard, D M, Lombardo, M V, Melgaard, L, Nørgaard-Pedersen, B, Ruta, L   +9 more
core   +1 more source

Adverse Effects of Trichothiodystrophy DNA Repair and Transcription Gene Abnormalities on Human Fetal Development [PDF]

, 2009
The effects of DNA repair and transcription genes in human prenatal life have never been studied. Trichothiodystrophy (TTD) is a rare (affected frequency of 10^-6^) recessive disorder caused by mutations in genes involved in the nucleotide excision ...
Amiran Dzutsev, Caroline Signore, James L. Mills, James Troendle, Roxana Moslehi   +4 more
core   +2 more sources

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Journal of Medical Case Reports, 2018
Background 11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, facial dysmorphism, multiple congenital abnormalities, and thrombocytopenia.
Yuko Ichimiya, Yuka Wada, Shinji Kunishima, Keiko Tsukamoto, Rika Kosaki, Haruhiko Sago, Akira Ishiguro, Yushi Ito   +7 more
doaj   +1 more source

Timing of maternal exposure and fetal sex determine the effects of low-level chemical mixture exposure on the fetal neuroendocrine system in sheep [PDF]

, 2016
We have shown that continuous maternal exposure to the complex mixture of environmental chemicals (ECs) found in human biosolids (sewage sludge), disrupts mRNA expression of genes crucial for development and long-term regulation of hypothalamo-pituitary ...
Bellingham, M., Cotinot, C., Evans, N.P., Fowler, P.A., MacDonald, E.S., Mandon-Pepin, B., Rhind, S., Sharpe, R.M.   +7 more
core   +2 more sources

The physiological significance of insemination in programming pregnancy outcome [PDF]

, 2006
The cellular and molecular environment of the uterus during the pre - and peri - implantation period of early pregnancy is critical for implantation success and optimal fetal and placental development.
Andreas Krug, Ciaran Meachan
core   +4 more sources

Isolation of Nucleated Red Blood Cells With Intact Genomic DNA From Cord Blood by Applying G&T‐Seq

Reproductive Medicine and Biology
Purpose Fetal cells in maternal blood are a pure source of fetal genomic DNA for noninvasive prenatal testing (NIPT), if successfully isolated. We assessed whether single‐cell genome and transcriptome sequencing (G&T‐seq) can be applied to efficiently ...
Noriko Ito, Tatsuya Fujii, Kosuke Taniguchi, Yuka Okazaki, Hiroko Ogata‐Kawata, Haruhiko Sago, Kenichiro Hata, Kazuhiko Nakabayashi   +7 more
doaj   +1 more source

Complex epithelial remodeling underlie the fusion event in early fetal development of the human penile urethra. [PDF]

, 2016
We recently described a two-step process of urethral plate canalization and urethral fold fusion to form the human penile urethra. Canalization ("opening zipper") opens the solid urethral plate into a groove, and fusion ("closing zipper") closes the ...
Baskin, Laurence, Cao, Mei, Cunha, Gerald, Overland, Maya, Shen, Joel, Sinclair, Adriane, Yue, Xuan   +6 more
core  

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons

Molecular Genetics & Genomic Medicine
Background Whole exome sequencing (WES) aids in diagnosing monogenic diseases, yet > 50% of all cases remain undiagnosed. We aimed to improve diagnostic precision by developing an effective WES‐based strategy for detecting congenital anomalies.
Kosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki, Asuka Hori, Hiroko Ogata‐Kawata, Saki Aoto, Ohsuke Migita, Tomoko Kawai, Kazuhiko Nakabayashi, Kohji Okamura, Kana Fukui, Seiji Wada, Katsusuke Ozawa, Yushi Ito, Haruhiko Sago, Kenichiro Hata   +15 more
doaj   +1 more source