Results 191 to 200 of about 172,801 (303)

Environmental causes of human congenital malformations: The physician\u27s role in dealing with these complex clinical problems caused by environmental and genetic factors. [PDF]

, 2008
Brent, Robert L
core   +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

Prevention of Respiratory Infections in Children with Congenital Heart Disease: Current Evidence and Clinical Strategies. [PDF]

Vaccines (Basel)
Esposito S, Aurelio C, Cifaldi M, Lazzara A, Viafora F, Principi N.   +5 more
europepmc   +1 more source

Outcome analysis of major cardiac operations in low weight neonates [PDF]

, 2004
Bové, Thierry, De Groote, Katya, De Wolf, Daniël, Francois, Katrien, Matthys, Dirk, MOERMAN, ANNELIESE, Poelaert, Jan, SUYS, B, Van Nooten, Guido, VANHAESEBROECK, P, Verhaaren, Henri   +10 more
core   +2 more sources

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar

Clinical Genetics, EarlyView.
CT scan image of a 17‐year‐old female with primary ciliary dyskinesia (PCD) showing dextrocardia and bilateral bronchiectasis. The study describes genetic mutations affecting patients with PCD in Qatar and the corresponding clinical phenotype of affected patients.
Atqah AbdulWahab, Reem Mohamed, Amani Hamid, Hadeel Alzoubi, Donald R. Love, Kelly Robinson, Ibrahim Janahi, Mutasim Abu‐Hasan   +7 more
wiley   +1 more source

In Vivo Models of Cardiovascular Disease: <i>Drosophila melanogaster</i> as a Genetic Model of Congenital Heart Disease. [PDF]

Biomedicines
Stougiannou TM, Koutini M, Mitropoulos F, Karangelis D.   +3 more
europepmc   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Putative role of TMEM165 in congenital cardiomyopathies. [PDF]

Front Mol Neurosci
Gonçalves PP.
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Antenatal and Preoperative Factors Associated with 2-Year Outcome of Preterm Newborns with Biventricular Complex Congenital Heart Defects: A 23-Year Cohort Study. [PDF]

Children (Basel)
Qureshi M, Amiri S, Dinu IA, Vrban-McRae A, Savard W, Robertson CMT, Cheung PY.   +6 more
europepmc   +1 more source