EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.

abstract：:The "Kyoto Collection of Human Embryos" at Kyoto University was begun in 1961. Although morphological analyses of samples in the Kyoto Collection have been performed, these embryos have been considered difficult to genetically analyze because they have been preserved in formalin or Bouin's solution for 20-50 years. Ow...

journal_title：Congenital anomalies

authors： Nagai M,Minegishi K,Komada M,Tsuchiya M,Kameda T,Yamada S

更新日期：2016-05-01 00:00:00

abstract：:In vitro fertilization (IVF) and other assisted reproductive technologies (ART) are effective treatments for infertility and are widely provided at infertility clinics. Although IVF and related ART procedures are generally considered safe, some studies have suggested an excess occurrence of major malformations, low bi...

journal_title：Congenital anomalies

authors： Shiota K,Yamada S

更新日期：2005-06-01 00:00:00

abstract：:To investigate the abnormalities that are specific to administration of flucytosine at one time point during embryonic organogenesis, flucytosine was administered orally to pregnant Sprague Dawley (SD) rats in a single dose on day 11 of pregnancy at 25 or 35 mg/kg. Fetuses on day 20 of pregnancy were externally, visce...

journal_title：Congenital anomalies

authors： Fujii S,Yabe K,Kariwano-Kimura Y,Furukawa M,Itoh K,Matsuura M,Horimoto M

更新日期：2019-03-01 00:00:00

abstract：:A 32-year-old gravida 2, para 1 woman, with a previous uneventful pregnancy, underwent first trimester ultrasound screening for Down syndrome at 13 weeks according to the Fetal Medicine Foundation guidelines (http://www.fetalmedicine.com/pdf/11-14/english/FMF-English.pdf). The ultrasound showed increased nuchal transl...

journal_title：Congenital anomalies

authors： Tonni G,Azzoni D,Ambrosetti F,de Felice C,Ventura A

更新日期：2007-06-01 00:00:00

abstract：:It is known that the developing serotonergic system is one of the targets of ethanol teratogenicity. Because serotonin has multiple functions in both mature and immature brains, disturbance of the serotonergic system by ethanol exposure in utero can be cause of a wide range of psychiatric problems in adulthood. In the...

journal_title：Congenital anomalies

authors： Ohta K,Sakata-Haga H,Fukui Y

更新日期：2010-06-01 00:00:00

abstract：:The time of origin of motor neurons and their distribution in the spinal cord was studied in rat embryos by combining whole-embryo culture and the Islet-1 immunostaining technique. Cells immunostained for Islet-1 appeared in the trunk neural tube by 27 hours (corresponding to E10.625) in culture of E9.5 embryos, at wh...

journal_title：Congenital anomalies

authors： Matsuda M

更新日期：2002-06-01 00:00:00

abstract：:Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. ...

journal_title：Congenital anomalies

authors： Okamoto N,Kimura S,Shimojima K,Yamamoto T

更新日期：2017-11-01 00:00:00

abstract：:Down syndrome (DS) is the most common cause of mental retardation. Several DS mouse models with partial trisomy 16 homologous to human chromosome 21 have been developed, and our research group has been studying those mouse models. We have shown a dosage-dependent overexpression of genes in the trisomic region of the m...

journal_title：Congenital anomalies

authors： Yamakawa K

更新日期：2012-06-01 00:00:00

abstract：:Semaphorins and their receptors, neuropilins and plexins, were initially characterized as a modulator of axonal guidance during development, but are now recognized as a regulator of a wide range of developmental events including morphogenesis and angiogenesis, and activities of the immune system. Owing to the developm...

journal_title：Congenital anomalies

authors： Masuda T,Taniguchi M

更新日期：2015-02-01 00:00:00

abstract：:Certain studies previously pointed out that treating pregnant women with antidepressants may increase risks of congenital anomalies in their children. However, to date, the study results are not conclusive. Furthermore, most studies have been performed using data from Western countries; therefore, we examined this ass...

journal_title：Congenital anomalies

authors： Yamamoto-Sasaki M,Yoshida S,Takeuchi M,Tanaka-Mizuno S,Kawakami K

更新日期：2020-11-01 00:00:00

abstract：:ABSTRACT The heart is the first organ to form and function during development. In the pregastrula chick embryo, cells contributing to the heart are found in the postero-lateral epiblast. During the pregastrula stages, interaction between the posterior epiblast and hypoblast is required for the anterior lateral plate m...

journal_title：Congenital anomalies

authors： Sakabe M,Matsui H,Sakata H,Ando K,Yamagishi T,Nakajima Y

更新日期：2005-12-01 00:00:00

abstract：:For the last 25 years, it has been proven that the occurrence or recurrence of neural tube defects can be prevented with the administration of folic acid before and early pregnancy. At present, over 80 countries in the world, except Japan, have mandated the fortification of wheat flour and/or rice with folic acid, whi...

journal_title：Congenital anomalies

authors： Kondo A,Matsuo T,Morota N,Kondo AS,Okai I,Fukuda H

更新日期：2017-09-01 00:00:00

abstract：:Many of the effects of dioxins, which are potent environmental pollutants and teratogens, are mediated through the aryl hydrocarbon receptor, also known as the dioxin receptor. The purpose of the present study was to characterize dioxin-responsive genes in a comprehensive manner using two complementary approaches: bio...

journal_title：Congenital anomalies

authors： Fujita H,Samejima H,Kitagawa N,Mitsuhashi T,Washio T,Yonemoto J,Tomita M,Takahashi T,Kosaki K

更新日期：2006-09-01 00:00:00

abstract：:We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during ...

journal_title：Congenital anomalies

authors： Corona-Rivera JR,Bobadilla-Morales L,Corona-Rivera A,Peña-Padilla C,Olvera-Molina S,Orozco-Martín MA,García-Cruz D,Ríos-Flores IM,Gómez-Rodríguez BG,Rivas-Soto G,Pérez-Molina JJ

更新日期：2018-07-01 00:00:00

abstract：:Cynomolgus monkey (Macaca fascicularis) is a popular laboratory primate belonging to Old World monkeys, which are the group most closely related to humans except for the apes. This paper summarizes a series of our studies regarding the development of cerebral sulci and gyri in this primate, and the stated possibility ...

journal_title：Congenital anomalies

authors： Sawada K,Fukunishi K,Kashima M,Imai N,Saito S,Sakata-Haga H,Aoki I,Fukui Y

更新日期：2012-03-01 00:00:00

abstract：:We report the case of a boy with a de novo partial monosomy 16p13-pter and partial trisomy 16q22-qter detected by fluorescence in situ hybridization using subtelomeric probes for 16p and 16q. The boy had facial characteristics, skeletal features, congenital heart defects, an imperforate anus, urogenital malformations,...

journal_title：Congenital anomalies

authors： Yamada K,Uchiyama A,Arai M,Kubodera K,Yamamoto Y,Orii KO,Nagasawa H,Masuno M,Kohno Y

更新日期：2009-06-01 00:00:00

abstract：:We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed th...

journal_title：Congenital anomalies

authors： Serikawa T,Nishiyama K,Tohyama J,Tazawa R,Goto K,Kuriyama Y,Haino K,Kanemura Y,Yamasaki M,Nakata K,Takakuwa K,Enomoto T

更新日期：2014-11-01 00:00:00

abstract：:Thoracolumbar supernumerary ribs (TSRs) are classified as less severe skeletal anomalies in rat developmental toxicity studies, although their incidence is relatively high in rodent studies. To investigate the characteristics of the critical window for chemically-induced TSR, in this study, rats were administered 5-fl...

journal_title：Congenital anomalies

authors： Kuwagata M,Senuma M,Todoroki M,Kumagai F,Kumamoto T,Ogawa T

更新日期：2019-11-01 00:00:00

abstract：:Hydroxyprogesterone, a synthetic progestin, was used for the treatment of pregnant women with threatened abortion and preterm delivery. Previous studies showed some association between hydroxyprogesterone use during early pregnancy and some specific congenital abnormalities. The population-based large Hungarian data s...

journal_title：Congenital anomalies

authors： Dudás I,Gidai J,Czeizel AE

更新日期：2006-12-01 00:00:00

abstract：:Galectins are β-galactoside-binding lectins that participate in a wide range of biological processes. Galectins are distributed both inside and outside cells and are believed to have roles in both intra- and extracellular milieus. One of the well-recognized functions of galectins is stabilization of glycoproteins on t...

journal_title：Congenital anomalies

authors： Arikawa T,Simamura E,Shimada H,Nakamura T,Hatta T,Shoji H

更新日期：2014-05-01 00:00:00

abstract：:Six pediatric cases including four infants with congenital polymicrogyria including the perisylvian region are presented herein. Their clinical features were analyzed and compared with patients suffering from congenital bilateral perisylvian syndrome (CBPS). Two specific abnormalities were diagnosed as accompanying di...

journal_title：Congenital anomalies

authors： Takano T,Matsuwake K,Yoshioka S,Takeuchi Y

更新日期：2010-03-01 00:00:00

abstract：:Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(p15.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers....

journal_title：Congenital anomalies

authors： Kosaki R,Higuchi M,Mitsui N,Matsushima K,Ohashi H,Kosaki K

更新日期：2005-03-01 00:00:00

abstract：:Cerebro-costo-mandibular syndrome (CCMS) is a very rare syndrome characterized by micrognathia and posterior rib gap, with a poor prognosis. To date, only 75 cases have been reported worldwide. The overall survival rate for patients with this disorder has not been reported, and a classification of the patients on the ...

journal_title：Congenital anomalies

authors： Nagasawa H,Yamamoto Y,Kohno Y

更新日期：2010-09-01 00:00:00

abstract：:Even though from preclinical testing to drug risk labeling, the situation with drugs in pregnancy has improved substantially since the thalidomide scandal, there is still an increasing need to provide healthcare professionals and patients with updated individualized risk information for clinical decision making. For t...

journal_title：Congenital anomalies

authors： Schaefer C

更新日期：2011-03-01 00:00:00

abstract：:It is known that neural tube defects are folic acid preventable congenital anomalies. We investigated to what extent this information was disseminated among laywomen and healthcare providers. Questionnaire studies were conducted twice, in 2002 and 2007, for four groups of laywomen and seven groups of healthcare provid...

journal_title：Congenital anomalies

authors： Kondo A,Yamamoto S,Inoue H,Watanabe J,Tada K,Yoshimoto N

更新日期：2009-09-01 00:00:00

abstract：:Choroid plexus, a fetal organ developing approximately from the sixth week of gestation, plays a fundamental role in developing fetal brain organization. As relatively little is known about the relationship between anomalies of choroid plexuses structure and their role in brain function, we examined cases of bifid cho...

journal_title：Congenital anomalies

authors： Centini G,Imperatore A,Morelli M,Rosignoli L,Passamonti U,Caprioli F,Lituania M

更新日期：2013-06-01 00:00:00

abstract：:We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and short stature), and appendicular exostoses similar to trichorhinophalangea...

journal_title：Congenital anomalies

authors： Kikuchi N,Ogino T,Kashiwa H,Muragaki Y

更新日期：2007-09-01 00:00:00

abstract：:With the high cost and the long-term assessment of developmental toxicity testing in mammals, the vertebrate zebrafish has become a useful alternative model organism for high-throughput developmental toxicity testing. Zebrafish is also very favorable for the 3R perspective in toxicology; however, the methodologies use...

journal_title：Congenital anomalies

authors： Nishimura Y,Inoue A,Sasagawa S,Koiwa J,Kawaguchi K,Kawase R,Maruyama T,Kim S,Tanaka T

更新日期：2016-01-01 00:00:00

abstract：:Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricl...

journal_title：Congenital anomalies

authors： Li H,Liang H,Wu H

更新日期：2017-03-01 00:00:00

abstract：:Recent development of biomedical engineering as well as basic biology and medicine has enabled us to induce cell-based regeneration of body tissue to self-repair defective tissue or substitute biological functions of damaged organs. For successful tissue regeneration, it is indispensable to give cells an environment s...

journal_title：Congenital anomalies

authors： Tabata Y

更新日期：2004-09-01 00:00:00