Results 61 to 70 of about 14,912 (246)

Participation in Self-Collection of Maternal and Infant DNA in a Case-Control Study on Clubfoot [PDF]

, 2011
National Institute of Child Health and Human Development ...
Werler, Martha, Yazdy, Mahsa
core   +1 more source

Preferential associated anomalies in 818 cases of microtia in South america [PDF]

, 2013
The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for
Castilla, Eduardo Enrique, Cox, Thimoty C., Cunningham, Michael L., Dutra, Maria da Graça, Luquetti, Daniela V., López Camelo, Jorge Santiago   +5 more
core   +3 more sources

Early versus late termination for fetal anomalies: Women's perspectives and psychological impact in a mixed methods study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This mixed method study evaluated the psychological impact and perspectives associated with early and late termination of pregnancy (TOP). Early TOP due to fetal anomalies is associated with a lower psychological impact compared to late TOP. Pregnancy termination has a substantial emotional impact regardless of gestational age.
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Initial clubfoot treatment in Sweden from 2016 to 2019: A national register study.

PLoS ONE
BackgroundThis study aimed to describe the initial treatment of clubfoot deformity in Sweden using a national cohort. Secondarily we aimed to analyse the results of the initial treatment in relation to foot severity and additional diseases.MethodsA ...
Arne Johansson, Henrik Wallander, Anna-Clara Esbjörnsson   +2 more
doaj   +1 more source

Prenatal Counseling for Congenital Clubfoot

Journal of the Pediatric Orthopaedic Society of North America
Congenital clubfoot is a common deformity that affects 1 in 1000 newborns and is frequently detected prenatally during routine prenatal care. A wide variety of detection methods and testing are used to identify clubfoot and other congenital anomalies in ...
Akshitha Adhiyaman, BS, Olivia C. Tracey, BA, Amith Umesh, BA, Patrick P. Nian, BA, Michele K. Silverstein, MD, Shevaun M. Doyle, MD, David M. Scher, MD   +6 more
doaj   +1 more source

Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection [PDF]

, 2014
Despite declining sequencing costs, few methods are available for cost-effective single-nucleotide polymorphism (SNP), insertion/deletion (INDEL) and copy number variation (CNV) discovery in a single assay.
Alvarado, David M, Druley, Todd E, Gurnett, Christina A, Lovett, Michael, Yang, Ping   +4 more
core   +2 more sources

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

The FEBS Journal, EarlyView.
Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola, Deianira Bellitto, Erfan Asgari, Virginia Bazzurro, Giorgia Casucci, Francesco Piacente, Matteo Bozzo, Davide Ceresa, Costantino Parisi, Cecilia Winata, Simona Candiani, Michela Tonetti   +11 more
wiley   +1 more source

Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]

, 2011
Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe, Lugliè, Pietrina Francesca, Sale, Silvana, Spano, Giovanni   +3 more
core   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Ponseti Technique for the Management of Congenital Talipes Equinovarus in a Rural Set-Up in India: Experience of 356 Patients

Children, 2018
Congenital talipes equinovarus (CTEV), also known as clubfoot, is a complex congenital deformity of the foot that, left untreated, can limit a person’s mobility by making it difficult and painful to walk. Worldwide, 80% of children born with clubfoot are
Rohit Malhotra, Ashutosh Mohapatra, Geetika Arora, Priyam Choudhury, Hitesh Joshi, Pranav Patel   +5 more
doaj   +1 more source