Results 111 to 120 of about 4,210 (197)

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

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, EarlyView.
A George
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Predictors of Adverse Perinatal Outcome in Twin Anemia Polycythemia Sequence: Evidence From a Single Center Cohort Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the perinatal outcome of monochorionic pregnancies complicated by Twin Anemia‐Polycythemia Sequence (TAPS) and identify prognostic factors associated with adverse outcomes. Methods A retrospective study (2012–2024) analyzed TAPS cases at a tertiary center.
Keren Zloto, Noa Rosenthal, Stav Cohen, Hagai Avnet, Boaz Weisz, Yoav Yinon   +5 more
wiley   +1 more source

Fetal Pancreas in Growth Restriction: A Prenatal Window Into Metabolic and Genetic Risk

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Animal models have demonstrated impaired pancreatic islet development in fetal growth restriction (FGR) cases, which can become apparent at or before birth and persist into adulthood, resulting in glucose intolerance. This study assessed the relationship between fetal pancreatic biometry and FGR.
Hadas Miremberg, Catharina Bobrow, Noa Feldman, Noa Haggiag, Catherine Garel, Gustavo Malinger, Karina Krajden Haratz, Sharon Perlman   +7 more
wiley   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B‐Associated Parkinsonism

Movement Disorders Clinical Practice, EarlyView.
Luca Gallo, Emna Ben Mansour, Silvia Nicolosi, Anna Pichiecchio, Simone Gana, Samia Ben Sassi, Silvano Cristina, Micol Avenali, Enza Maria Valente   +8 more
wiley   +1 more source

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant

Prenatal Diagnosis, EarlyView.
Abstract Joubert syndrome is a rare autosomal recessive ciliopathy defined by the “molar tooth” sign caused by cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. Over 40 genes are known to cause the disorder, including KIAA0586, which encodes the centrosomal protein TALPID3, essential for ciliogenesis and Hedgehog signaling ...
Tamara Casteleyn, Markus Vogt, Alexander Weichert, Béla Zimmer, Birgit Lala, Wolfgang Henrich, Josefine Theresia Königbauer   +6 more
wiley   +1 more source

Pulmonary Agenesis and Hypoplasia [PDF]

Archives of Disease in Childhood, 1946
openaire   +4 more sources

Assessment of Double Outlet Left Ventricle in Pediatrics Using Transthoracic Echocardiography and Computed Tomographic Angiography

Pediatric Discovery, EarlyView.
The clinical manifestation of DOLV was atypical. TTE has a relatively high diagnostic accuracy for DOLV in pediatric, which is very valuable for its early detection. ABSTRACT Double outlet left ventricle (DOLV) is a rare congenital cardiac anomaly in which both great arteries originate entirely or predominantly from the morphologic left ventricle.
Xu Zhu, Guangyi Zhong, Xiaojuan Ji, Xue Xiang, Min Zheng, Huina Yan, Rui Li   +6 more
wiley   +1 more source