Novel missense mutation of L1CAM in a fetus with isolated hydrocephalus
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 25, 2018 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies, Ahead of Print. (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 25, 2018 Category: Genetics & Stem Cells Source Type: research
Novel missense mutation of L1CAM in a fetus with isolated hydrocephalus
(Source: Congenital Anomalies)
Source: Congenital Anomalies - January 25, 2018 Category: Genetics & Stem Cells Authors: Honglei Duan, Guangfeng Zhao, Yaping Wang, Xiangyu Zhu, Jie Li Tags: Note Source Type: research
Blechschmidt Collection: Revisiting specimens from a historical collection of serially sectioned human embryos and fetuses using modern imaging techniques
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 22, 2018 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies, Ahead of Print. (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 22, 2018 Category: Genetics & Stem Cells Source Type: research
Blechschmidt Collection: Revisiting specimens from a historical collection of serially sectioned human embryos and fetuses using modern imaging techniques
ABSTRACT
Along with the Carnegie Collection in the United States and the Kyoto Collection in Japan, the Blechschmidt Collection (Georg‐August‐University of Göttingen, Germany) is a major historical human embryo and fetus collection. These collections are of enormous value to human embryology; however, due to the nature of the historical histological specimens, some stains are fading in color, and some glass slides are deteriorating over time. To protect these specimens against such degradation and ensure their future usefulness, we tried to apply modern image scanning and computational reconstruction. Samples of histo...
Source: Congenital Anomalies - January 22, 2018 Category: Genetics & Stem Cells Authors: Reina Miyazaki, Haruyuki Makishima, J örg Männer, Hans‐Georg Sydow, Chigako Uwabe, Tetsuya Takakuwa, Christoph Viebahn, Shigehito Yamada Tags: Original Article Source Type: research
Repairability of skeletal alterations induced by sodium valproate in rats
Congenital Anomalies, EarlyView. (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 16, 2018 Category: Genetics & Stem Cells Source Type: research
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Congenital Anomalies, Ahead of Print. (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 16, 2018 Category: Genetics & Stem Cells Source Type: research
Predicting the intrauterine fetal death of fetuses with cystic hygroma in early pregnancy
Abstract
We investigated whether it was possible to predict the prognosis of fetuses with cystic hygroma (CH) in early pregnancy based on the degree of neck thickening. We retrospectively analyzed 57 singleton pregnancies with fetuses with CH who were examined before the 22nd week of pregnancy. The fetuses were categorized according to the outcome, structural abnormalities at birth, and chromosomal abnormalities. Here, we proposed a new sonographic predictor with which we assessed neck thickening by dividing the width of the neck thickening by the biparietal diameter (BPD), which is expressed as the CH/BPD ratio (CBR). The...
Source: Congenital Anomalies - January 11, 2018 Category: Genetics & Stem Cells Authors: Mai Shimura, Hiroshi Ishikawa, Hiromi Nagase, Akihiko Mochizuki, Futoshi Sekiguchi, Naho Koshimizu, Toshiyuki Itai, Mizuha Odagami Tags: Original Article Source Type: research
What is Accepted Articles?
Congenital Anomalies,Volume 0, Issue ja, -Not available-. (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 6, 2018 Category: Genetics & Stem Cells Source Type: research
Issue Information
This photomicropraph of Nissl‐stained section shows the representative amygdaloid nuclei of methylazoxymethanol‐induced micrencephalic rat. Cytoarchtectonic boundaries of amygdaloid nuclei and divisions are delineated. BLA, basolateral nucleus, anterior part; BLP, basolateral nucleus, posterior part; BM, basomedial nucleus; Ce, central nucleus; Me, medial nucleus. Further details can be seen in the article by Matsuda et al. in this issue.
This photomicropraph of Nissl‐stained section shows the representative amygdaloid nuclei of methylazoxymethanol‐induced micrencephalic rat. Cytoarchtectonic boundaries of amygda...
Source: Congenital Anomalies - January 2, 2018 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico
ABSTRACT
We determined the overall prevalence of typical orofacial clefts (OFCs) and the potential risks for nonsyndromic cleft lip with or without palate (NSCL±P) in a University Hospital from west México. For the prevalence, 227 live born infants with typical OFCs were included from a total of 81,193 births occurred during the period 2009 to 2016 at the ‘Dr. Juan I. Menchaca’ Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case‐control study was conducted among 420 newborns, including only those 105 patients with NSCL±P (cases), and 315 infants without birth defects (...
Source: Congenital Anomalies - January 1, 2018 Category: Genetics & Stem Cells Authors: Jorge Rom án Corona‐Rivera, Lucina Bobadilla‐Morales, Alfredo Corona‐Rivera, Christian Peña‐Padilla, Sandra Olvera‐Molina, Miriam A. Orozco‐Martín, Diana García‐Cruz, Izabel M. Ríos‐Flores, Brian Gabriel Gómez‐Rodríguez, Gemma Riv Tags: Original Article Source Type: research
Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature
Asparagine synthetase deficiency (ASNSD, MIM 615574) is a recently delineated rare neurometabolic disorder caused by mutations in ASNS (MIM 108370) (Ruzzo et al., 2013). It is characterized by congenital and/or postnatal progressive microcephaly, global developmental delay, seizures, growth retardation, cerebral atrophy and simplified gyral pattern. (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 1, 2018 Category: Genetics & Stem Cells Authors: Chelna Galada, Malavika Hebbar, Leslie Lewis, Santosh Soans, Rajagopal Kadavigere, Anshika Srivastava, Stephanie Bielas, Katta M Girisha, Anju Shukla Tags: Note Source Type: research
A novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms
We describe a novel de novo heterozygous variant in SYNGAP1 (c.1741C>T, p.R581W), identified through targeted resequencing in an 8‐year‐old boy with intellectual disability (ID), autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of ID in this patient. (Source: Congenital Anomalies)
Source: Congenital Anomalies - January 1, 2018 Category: Genetics & Stem Cells Authors: Yuichi Kimura, Moe Akahira ‐Azuma, Noriaki Harada, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa Tags: Consensus Report Source Type: research
Association of single nucleotide polymorphisms in WNT genes with the risk of Non ‐Syndromic Cleft Lip with or without Cleft Palate
Abstract
Non‐syndromic cleft lip with or without palate (NSCL/P) is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors have been indicated to be related with susceptibility to NSCL/P. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of NSCL/P. In the present study we aimed to inspect the relationship between WNT3 (rs3809857, rs9890413), WNT3A (rs752107, rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and NSCL/P in an Iranian population. The present case‐control study was carried out on ...
Source: Congenital Anomalies - January 1, 2018 Category: Genetics & Stem Cells Authors: Houshang Rafighdoost, Mohammad Hashemi, Hossein Asadi, Gholamreza Bahari Tags: Original Article Source Type: research
