Results 141 to 150 of about 53,280 (283)

Genetic Hearing Loss Associated with Craniofacial Abnormalities

, 2012
It is estimated that hereditary hearing loss accounts for 60% of deafness in the developed countries. About 30% of hereditary hearing impairment is syndromic which involves other presenting abnormalities along with deafness. There are more than 400 syndromes which include various degrees of hearing impairment with different phenotypes.
S. Lunardi, F. Forli, A. Michelucci, A. Liumbruno, F. Baldinotti, A. Fogli, V. Bertini, A. Valetto, B. Toschi, P. Simi, BOLDRINI, ANTONIO, S. Berrettini, GHIRRI, PAOLO   +12 more
openaire   +4 more sources

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

The natural history of periodontal disease—Part 2: In populations with access to dental care: The Studies of Health in Pomerania (SHIP)

Periodontology 2000, EarlyView., 2023
Abstract In this descriptive analysis of the 21‐year follow‐up data from the SHIP‐START cohort and the 7‐year follow‐up data from the SHIP‐TREND cohort, we report the progression of clinical attachment levels (CAL), age effects on CAL change, and a detailed description of CAL progression and remission. At baseline, 4307 and 4420 persons participated in
Thomas Kocher, Peter Meisel, Reiner Biffar, Henry Völzke, Birte Holtfreter   +4 more
wiley   +1 more source

The Pain in Dystonia Scale (PIDS)—Validation in Craniofacial and Upper Limb Dystonia

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Pain is one of the most disabling non‐motor symptoms in adult‐onset isolated dystonia (AOID). The Pain in Dystonia Scale (PIDS) was developed and validated in cervical dystonia. Its applicability to other focal subtypes remains unknown.
Veronica Bruno, Vittorio Velucci, Beatrice Achen, Marcello Mario Mascia, Antonella Muroni, Daniele Belvisi, Francesco Marchet, Laura Avanzino, Francesca Di Biasio, Roberto Erro, Cristiano Sorrentino, Lucio Marinelli, Flavio Villani, Antonio Pisani, Francesca Valentino, Angelo Fabio Gigante, Anna Castagna, Francesco Bono, Giovanni Cossu, Carlo Alberto Artusi, Carmen Terranova, Martina Petracca, Nicola Tambasco, Giovanni Defazio, Davide Martino   +24 more
wiley   +1 more source

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders [PDF]

, 2017
Andrews, Marisa V, et al,, Grange, Dorothy K   +2 more
core   +2 more sources

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +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

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +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

Neural crest-specific deletion of Rbfox2 in mice leads to craniofacial abnormalities including cleft palate. [PDF]

Elife, 2019
Cibi DM, Mia MM, Guna Shekeran S, Yun LS, Sandireddy R, Gupta P, Hota M, Sun L, Ghosh S, Singh MK.   +9 more
europepmc   +1 more source