Results 71 to 80 of about 66,087 (258)

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother [PDF]

, 2009
Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities ...
Kumar, Arvind, Taksande, AM, Vilhekar, KY   +2 more
core  

Prevalence and diagnosis of congenital uterine anomalies in women with reproductive failure: a critical appraisal [PDF]

, 2008
BACKGROUND: The prevalence of congenital uterine anomalies in women with reproductive failure remains unclear, largely due to methodological bias. The aim of this review is to assess the diagnostic accuracy of different methodologies and estimate the ...
Cocksedge, K.A., Li, T-C., Saravelos, S.H.   +2 more
core   +1 more source

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

Ultrasonographic Diagnosis of Finger Flexor Tendon Hypoplasia in a Child with Phalangeal Agenesis

Diagnostics
Agenesis and hypoplasia affecting multiple flexor tendons within the same hand represent an exceedingly uncommon occurrence, with no previous studies addressing this condition.
Cheng-I Chen, Hong-Yi Lin, Wei-Ting Wu, Ke-Vin Chang, Levent Özçakar   +4 more
doaj   +1 more source

Agenesia de artéria carótida interna

Jornal Vascular Brasileiro, 2018
Resumo A agenesia de carótida interna é uma anomalia rara. Na maioria dos casos, é assintomática devido às anastomoses que podem estar presentes, mas pode estar associada a complicações, principalmente quando evidenciada a presença de outras alterações ...
Adriano Carvalho Guimarães, Thaís Duarte Baião Pessoa, Ricardo Herkenhoff Moreira, Walter Junior Boim de Araujo   +3 more
doaj   +1 more source

Dandy-Walker malformation: is the "tail sign" the key sign? [PDF]

, 2015
OBJECTIVE.To demonstrate the value of the "tail sign" in the assessment of Dandy-Walker Malformation (DWM). METHODS: A total of 31fetal MRI, performed before 24 weeks of gestation after second-line US examination between May 2013 and September 2014 ...
Aliberti, C, Bernardo, Silvia, Giancotti, Antonella, Manganaro, Lucia, Porpora, Maria Grazia, Rizzo, G, Saldari, Matteo, Servadei, F, Silvestri, E, Triulzi, F, Vinci, Valeria   +10 more
core   +1 more source

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source

Recurrent deletions of ULK4 in schizophrenia : a gene crucial for neuritogenesis and neuronal motility [PDF]

, 2013
Peer reviewedPublisher ...
Blackwood, Douglas H, Gao, Guo-Dong, Guan, Zhen-Long, He, Guang, He, Lin, Hunter, Irene, Lang, Bing, Li, Wei-Dong, Liu, Min, Martin-Granados, Christina, McCaig, Colin D, Pu, Jin, Reilly, Thomas J, Shen, Sanbing, Shi, Yong-Yong, St Clair, David, Stefansson, Hreinn   +16 more
core   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis [PDF]

, 2016
Dental agenesis is one of the most common congenital craniofacial abnormalities. Dental agenesis can be classified, relative to the number of missing teeth (excluding third molars), as hypodontia (1 to 5 missing teeth), oligodontia (6 or more missing ...
Amadori, Francesca, Bardellini, Elena, Borsani, Giuseppe, De Petro, Giuseppina, Ferrari, Lia, Giacopuzzi, Edoardo, Majorana, Alessandra, Salvi, Alessandro   +7 more
core   +1 more source