Results 271 to 280 of about 370,897 (400)

Ethical dilemmas in continuing pregnancy after a prenatal diagnosis of congenital heart defects: a systematic review and narrative synthesis. [PDF]

BMC Med Ethics
Kalhor F, Tagharrobi Z, Ghaderian M, Taghadosi M, Shahzeydi A, Mah-Najafabadi A, Sharifi S.   +6 more
europepmc   +1 more source

Congenital heart defects in Williams syndrome.

Turkish Journal of Pediatrics, 2017
S. Yuan
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

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

Proximity to Pediatric Cardiac Surgical Care among Adolescents with Congenital Heart Defects in 11 New York Counties

, 2017
Kristin Sommerhalter, Tabassum Z. Insaf, Tuğba Akkaya Hocagil, Claire McGarry, Sherry L. Farr, Karrie F. Downing, George K. Lui, Ali N. Zaidi, Alissa R. Van Zutphen   +8 more
openalex   +2 more sources

Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM) Associated with the <i>ABL1</i> Gene in a Peruvian patient: Case Report. [PDF]

Clin Med Insights Cardiol
Arauco-Lázaro D, Purizaca-Rosillo ND, Rojas-Huillca MA, Vásquez-Villanueva S, Gutierrez EL.   +4 more
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

Use of Artificial Intelligence-Based Software to Aid in the Identification of Ultrasound Findings Associated With Fetal Congenital Heart Defects. [PDF]

Obstet Gynecol
Lam-Rachlin J, Punn R, Behera SK, Geiger M, Lachaud M, David N, Garmel S, Fox NS, Rebarber A, DeVore GR, Zelop CM, Janssen MK, Sylvester-Armstrong KR, Kennedy J, Spiegelman J, Heiligenstein M, Bessis R, Mobeen S, Kia F, Friedman C, Melka S, Stos B, De Boisredon M, Askinazi E, Thorey V, Gardella C, Levy M, Arunamata A.   +27 more
europepmc   +1 more source

Trends in Congenital Heart Defects in Infants With Down Syndrome

Pediatrics, 2016
S. Bergström, H. Carr, G. Petersson, O. Stephansson, A. E. Bonamy, A. Dahlström, C. Halvorsen, S. Johansson   +7 more
semanticscholar   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source