Results 271 to 280 of about 366,922 (396)

Transventricular ventricular septal defect closure with device as hybrid procedure in complex congenital cardiac surgeryCentral Message

JTCVS Techniques
Julie Cleuziou, MD, PhD, MBA, Stanimir Georgiev, MD, Paul Philipp Heinisch, MD, PhD, Peter Ewert, MD, PhD, Jürgen Hörer, MD, PhD   +4 more
doaj   +1 more source

Symptoms of post-traumatic distress and quality of life in adults with aortopathy and congenital heart defects or hereditary connective tissue diseases. [PDF]

Cardiovasc Diagn Ther
Dreher H, Dewald O, Freiberger A, Freilinger S, Harig F, Nagdyman N, Strueven NT, Suleiman M, Mellert F, Kohls N, Kaemmerer-Suleiman AS.   +10 more
europepmc   +1 more source

Maternal Diabetes, Birth Weight, and Neonatal Risk of Congenital Heart Defects in Norway, 1994–2009

Obstetrics and Gynecology, 2016
E. Leirgul, Kristoffer Brodwall, G. Greve, S. Vollset, H. Holmstrøm, G. Tell, N. Øyen   +6 more
semanticscholar   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Meta-analysis on sex differences in mortality and neurodevelopment in congenital heart defects. [PDF]

Sci Rep
Crain AK, Lim ZN, Sarfatis CJ, Arias M, Holder T, Moreira AG, Corno AF, Findley TO.   +7 more
europepmc   +1 more source

Congenital heart defects in Williams syndrome.

Turkish Journal of Pediatrics, 2017
S. Yuan
semanticscholar   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, EarlyView.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Editorial: Recent advances in causes, diagnosis, and therapeutics for congenital heart defects. [PDF]

Front Genet
Xu X, Lo CW, Martin LJ, Han L, Xu D.
europepmc   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1. [PDF]

BMC Med Genomics
Farris J, Dergam-Larson C, Lopour M, Darr K, Schimmenti LA, Scruggs BA, Lambert LJ, Klee EW.   +7 more
europepmc   +1 more source