Results 281 to 290 of about 370,897 (400)

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

Dandy-Walker syndrome linked to amelia, genu recurvatum, haemangioma, complex congenital heart defects, schizencephaly, and dyslipidaemia: a case report. [PDF]

BMC Pediatr
Abdalrheem Mohamedsalih AH, Abdalla AM, Mohammed MA.   +2 more
europepmc   +1 more source

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

Effects of modified ultrafiltration on postoperative hepatic and renal function of pediatric patients with congenital cyanotic/non-cyanotic heart defect who underwent open heart surgery: Retrospective study

, 2020
Deniz Bozdoğan, Mustafa Şırlak, Zeynep Eyileten, Adnan Uysalel   +3 more
openalex   +1 more source

Artificial Intelligence for the Detection of Fetal Ultrasound Findings Concerning for Major Congenital Heart Defects. [PDF]

Obstet Gynecol
Zelop CM, Lam-Rachlin J, Arunamata A, Punn R, Behera SK, Lachaud M, David N, DeVore GR, Rebarber A, Fox NS, Gayanilo M, Garmel S, Boukobza P, Uzan P, Joly H, Girardot R, Cohen L, Stos B, De Boisredon M, Askinazi E, Thorey V, Gardella C, Levy M, Geiger M.   +23 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

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

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

Erratum: Cardiological rehabilitation, prehabilitation, and cardiovascular prevention in adults with congenital heart defects: tasks and services of the German Pension Insurance-part 2: cardiological rehabilitation. [PDF]

Cardiovasc Diagn Ther
Editorial Office.
europepmc   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source