Results 1 to 10 of about 938,719 (314)

A novel FLNA variant in a fetus with skeletal dysplasia

Human Genome Variation, 2022
Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA.
Kyoko Oshina, Yoshimasa Kamei, Asuka Hori, Fuyuki Hasegawa, Kosuke Taniguchi, Ohsuke Migita, Atsuo Itakura, Kenichiro Hata   +7 more
doaj   +1 more source

Development of fetal hearing [PDF]

Archives of Disease in Childhood - Fetal and Neonatal Edition, 1994
Previous research has revealed that the human fetus responds to sound, but to date there has been little systematic investigation of the development of fetal hearing. The development of fetal behavioural responsiveness to pure tone auditory stimuli (100 Hz, 250 Hz, 500 Hz, 1000 Hz, and 3000 Hz) was examined from 19 to 35 weeks of gestational age ...
Hepper, Peter, Shahidullah, S.
openaire   +2 more sources

Confined placental mosaicism of trisomy 6 detected through genome‐wide NIPT was associated with placental abruption

Clinical Case Reports, 2021
Confined placental mosaicism (CPM) leads to discordant noninvasive prenatal testing (NIPT) results. We describe a very rare case of CPM of trisomy 6 detected through genome‐wide NIPT. This case was associated with placental abruption, which might suggest
Miyuki Nishiyama, Seiji Wada, Fuyuki Hasegawa, Yohji Uehara, Mamoru Ozaki, Kenichiro Hata, Yushi Ito, Haruhiko Sago   +7 more
doaj   +1 more source

Genome-wide association study of preterm birth and gestational age in a Japanese population

Human Genome Variation, 2023
Preterm birth (PTB), defined as the birth of a baby at
Keita Hasegawa, Natsuhiko Kumasaka, Kazuhiko Nakabayashi, Hiromi Kamura, Kayoko Maehara, Yoshifumi Kasuga, Kenichiro Hata, Mamoru Tanaka   +7 more
doaj   +1 more source

A capture methyl-seq protocol with improved efficiency and cost-effectiveness using pre-pooling and enzymatic conversion

BMC Research Notes, 2023
Objective The opportunities for sequencing-based methylome analysis of clinical samples are increasing. To reduce its cost and the amount of genomic DNA required for library preparation, we aimed to establish a capture methyl-seq protocol, which adopts ...
Keita Hasegawa, Kazuhiko Nakabayashi, Keisuke Ishiwata, Yoshifumi Kasuga, Kenichiro Hata, Mamoru Tanaka   +5 more
doaj   +1 more source

Neonatal systemic juvenile Xanthogranuloma with Hydrops diagnosed by Purpura skin biopsy: a case report and literature review

BMC Pediatrics, 2021
Background Systemic juvenile xanthogranuloma is a very rare disease typically presents as skin lesions with yellow papules or nodules and is sometimes fatal.
Yohji Uehara, Yuka Sano Wada, Yuka Iwasaki, Kota Yoneda, Yasuhisa Ikuta, Shoichiro Amari, Hidehiko Maruyama, Keiko Tsukamoto, Tetsuya Isayama, Kenichi Sakamoto, Yoko Shioda, Osamu Miyazaki, Rie Irie, Takako Yoshioka, Naoko Mochimaru, Kazue Yoshida, Yushi Ito   +16 more
doaj   +1 more source

A pregnant woman with thymoma-associated pure red cell aplasia

BMC Pregnancy and Childbirth, 2022
Background Pure red cell aplasia (PRCA) is a hematological disorder characterized by anemia with severe reticulocytopenia caused by a marked reduction in erythroid precursors in the bone marrow.
Megumi Shibata, Kayoko Kaneko, Nagayoshi Umehara, Hitoshi Matsui, Toshinao Kawai, Hisaya Nakadate, Atsuko Murashimia, Haruhiko Sago   +7 more
doaj   +1 more source

Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism

Molecular Genetics & Genomic Medicine, 2020
Background Monozygotic twins with 45,X/46,XY mosaicism, discordant for phenotypic sex, are extremely rare. Methods This report describes the clinical findings of a rare case of 45,X/46,XY mosaicism in monozygotic twins with different external genitalia ...
Ken Takahashi, Taisuke Sato, Miyuki Nishiyama, Aiko Sasaki, Kosuke Taniguchi, Ohsuke Migita, Seiji Wada, Kenichiro Hata, Haruhiko Sago   +8 more
doaj   +1 more source

Fetal therapies as standard prenatal care in Japan [PDF]

Obstetrics & Gynecology Science, 2020
With recent advances in fetal medicine, various attempts have been made to save fetuses facing perinatal death or devastating consequences despite optimal management after birth.
Haruhiko Sago, Seiji Wada
doaj   +1 more source

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles

BMC Research Notes, 2021
Objective We aimed to simplify our fetal RHD genotyping protocol by changing the method to attach Illumina’s sequencing adaptors to PCR products from the ligation-based method to a PCR-based method, and to improve its reliability and robustness by ...
Asuka Hori, Hiroko Ogata-Kawata, Aiko Sasaki, Ken Takahashi, Kosuke Taniguchi, Ohsuke Migita, Akihiro Kawashima, Aikou Okamoto, Akihiko Sekizawa, Haruhiko Sago, Fumio Takada, Kazuhiko Nakabayashi, Kenichiro Hata   +12 more
doaj   +1 more source