Results 91 to 100 of about 36,492 (239)

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]

, 2017
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda, Bernardo, Silvia, Catalano, Carlo, DE VITO, Corrado, Di Meglio, L, Giancotti, Antonella, Manganaro, Lucia, Marchionni, Enrica, Pizzuti, Antonio, Saldari, Matteo, Silvestri, E, Vinci, Valeria   +11 more
core   +1 more source

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report

São Paulo Medical Journal
CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white ...
Rafael Fabiano Machado Rosa, Flávia Enk, Korine Camargo, Giovanni Marco Travi, André Freitas, Rosana Cardoso Manique Rosa, Carla Graziadio, Vinicius Freitas de Mattos, Paulo Ricardo Gazzola Zen   +8 more
doaj   +1 more source

Does measurement technique explain the mismatch between European head size and WHO charts? [PDF]

, 2016
Objective To test whether different measuring techniques produce systematic differences in head size that could explain the large head circumferences found in Northern European children compared with the WHO standard.
Bremner, Morven, Lip, Stefanie, Symonds, Joseph D., Wright, Charlotte M.   +3 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures

The Turkish Journal of Pediatrics, 2009
Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine.
Turgay Coşkun, Halil Ibrahim Aydin, Mustafa Kiliç, Ali Dursun, Göknur Haliloğlu, Haluk Topaloğlu, Kader Karli-Oğuz, Tom J De Koning   +7 more
doaj  

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management. [PDF]

, 2017
Microcephaly is an important sign of neurological malformation and a predictor of future disability. The 2015-16 outbreak of Zika virus and congenital Zika infection brought the world's attention to links between Zika infection and microcephaly. However,
Abdel Razek, Adams Waldorf, Alanen, Alanen, Alasdair Bamford, Andrew J Copp, Ashwal, Aubry, Barefoot, Barkovich, Best, Bharucha, Brasil, Braun, Britt, Britto, Buchman, Calvet, Cannon, Capobiango, Cauchemez, Cheeran, Chen, Chenn, Coelho, Cooper, Cortina-Borja, Cugola, D'Aiuto, Daffos, Dang, Dard, Delan Devakumar, Dolk, Dollard, Dreher, Driggers, Duffy, Feldman, França, Garcez, Givens, Graham, Groce, Hamel, Heinonen, Holt, Hu, Hughes, Hutto, Ibrahim Abubakar, Johansson, Johnson, Jonathan Broad, Jones, Judith Breuer, Kenneson, Khamduang, Kimberlin, Kimberlin, Kimberlin, Kimberlin, Kimberlin, Klein, Krauss, Lafaille, Lancaster, Laura C Rodrigues, Lazar, Lazzarotto, Lee, Leruez-Ville, Leviton, Li, Li, Lipitz, Looker, Looker, Luo, Manicklal, Marcelo U Ferreira, Marly A Cardoso, Marquez, Marthiens, McAuley, McLeod, Melo, Mendelson, Miller, Mitra, Mlakar, Montoya, Moore, Morris, Nguyen, Nora Groce, Nowakowski, Noyola, O'Rahilly, Odeberg, Oliveira Melo, Onorati, Ornoy, Palmer, Pandolfi, Pass, Passemard, Paula Alexandre, Petersen, Petersen, Picone, Pillai, Pinninti, Plotkin, Qian, Reef, Reynolds, Richard E Rosch, Rolland, Rorke, Rorman, Sabin, Sahara, Schoenfisch, Schuler-Faccini, Seo, Shah, Sheevani, Silasi, Szabó, Tang, Tenter, Thiebaut, Tondury, Torgerson, Ventura, Victora, Villar, von der Hagen, Vynnycky, Waddell, Webster, Wells, Wikan, Woods, Woods, Wu, Yamin   +147 more
core   +2 more sources

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Epidemiological Surveillance of Genetically Determined Microcephaly in Latin America: A Narrative Review

Epidemiologia
Background/Objectives: Congenital microcephaly is a clinical manifestation with a heterogeneous etiology, and its epidemiological surveillance relies on the systematic identification of cases and investigation of their underlying causes to inform ...
Melissa Daniella Gonzalez-Fernandez, Karina Jiménez-Gil, Linda Garcés-Ramírez, Alejandro Martínez-Juárez, Elsa Romelia Moreno-Verduzco, Juan Mario Solís-Paredes, Javier Pérez-Durán, Johnatan Torres-Torres, Irma Eloisa Monroy-Muñoz   +8 more
doaj   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source