Results 111 to 120 of about 72,997 (336)

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

open access: yesPrenatal 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   +7 more
wiley   +1 more source

Epidemiological pattern of cleft lip and palate under Rashtriya Bal Swasthya Karyakram project in the state of Bihar: A cross-sectional hospital-based study

open access: yesJournal of Family Medicine and Primary Care
Purpose: There is a paucity of literature on the incidence and distribution of cleft lip and palate cases in the population of Bihar leading to an unmeasured gap in the status of cleft patients in this part of the country.
Shria Datta, Veena Kumari Singh
doaj   +1 more source

Maternal risk factors for oral clefts: A case-control study [PDF]

open access: yes, 2012
Introduction: A cleft lip with or without a cleft palate is one of the major congenital anomalies observed in newborns. This study explored the risk factors for oral clefts in Gorgan, Northern Iran. Materials and Methods: This hospital-based case-control
Golalipour, M.J.   +3 more
core  

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

open access: yesPrenatal 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   +21 more
wiley   +1 more source

Clinical periodontal diagnosis

open access: yesPeriodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi   +5 more
wiley   +1 more source

Frequency of Cleft Lip and Palate among Live Births in Akbar Abadi Hospital [PDF]

open access: yesActa Medica Iranica, 2012
Cleft lip and cleft palate are one of the most frequent congenital anomalies worldwide. This study was conducted in order to measure the frequency of cleft lip and palate among live births in Akbar Abadi Hospital.
Dariush Jalili   +2 more
doaj   +1 more source

Prelacrimal Recess‐Pterygoid Window Approach to the Sphenoidal Lateral Recess Skull Base Defects

open access: yesWorld Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective The objectives of this study are: (1) to evaluate the prelacrimal recess‐pterygoid window approach (PLR‐PWA) for treating cerebrospinal fluid leaks and meningoencephaloceles (CSFLME) in the sphenoidal lateral recess (SLR). (2) To investigate the pneumatization of the SLR and its relationship with surrounding structures, including the
Zhen‐Xiao Huang   +7 more
wiley   +1 more source

Prevalence of congenital cardiac anomalies in patients with cleft lip and palate – Its implications in surgical management

open access: yesJournal of Oral Biology and Craniofacial Research, 2018
Background: Cleft lip and palate is one of the most common congenital craniofacial deformities seen in children. Various congenital anomalies are reported in the literature to be associated with cleft lip and palate. Cardiac anomalies are one of the most
Akash Kasatwar   +5 more
doaj   +1 more source

Dysphagia in Children With Autism Spectrum Disorder: A Scoping Review

open access: yesWorld Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective There are four phases of swallowing: oral preparatory, oral transit, oropharyngeal, and esophageal. Disruption of any phase(s) can lead to dysphagia. Autism spectrum disorder (ASD) children have a high rate of dysphagia compared with neurotypical peers.
Chase Hintelmann   +3 more
wiley   +1 more source

Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico [PDF]

open access: bronze, 2018
Jorge Román Corona‐Rivera   +10 more
openalex   +1 more source

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