Results 181 to 190 of about 277,988 (265)

National Experience With Tracheostomy in Neonates Undergoing Congenital Heart Surgery: A Multicenter Analysis. [PDF]

Crit Care Explor
Ahmed HF, Faateh M, Kulshrestha K, Hogue S, Cooper D, Zak S, Ashfaq A, Lehenbauer D, Morales DLS, Benscoter AL.   +9 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

Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties. [PDF]

Front Pediatr
Gao F, Li S, Hu L, Zeng Y, Qiu J.
europepmc   +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

Adverse events during pregnancy, circulating metabolites, and congenital malformations: a Mendelian randomization study. [PDF]

BMC Pregnancy Childbirth
Cheng J, Dong X, Yang Y, Qin X, Zhou X, Fu Y, Wang J, Wang Y, Zhang D.   +8 more
europepmc   +1 more source

Sudden unexpected death in children with congenital heart defects.

European Heart Journal, 2016
J. Jortveit, L. Eskedal, A. Hirth, T. Fomina, G. Dohlen, P. Hagemo, G. Tell, S. Birkeland, N. Øyen, H. Holmstrøm   +9 more
semanticscholar   +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

Congenital uterine anomalies and congenital heart disease: An underappreciated association? [PDF]

Int J Cardiol Congenit Heart Dis
VanDolah HJ, Mostajeran K, Goncalves L, Franklin WJ, Parks M, Moe TG.   +5 more
europepmc   +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