Results 271 to 280 of about 207,593 (292)

Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms. [PDF]

Front Cell Dev Biol
Griffin C.
europepmc   +1 more source

CT and MR imaging of giant cell granuloma of the craniofacial bones.

, 2006
J. S. Nackos, Richard H. Wiggins, H R Harnsberger   +2 more
openalex   +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

PRDM paralogs are required for Meckel's cartilage formation during mandibular bone development. [PDF]

Dev Biol
Denipah-Cook Q, Saxton BV, Artinger KB, Shull LC.   +3 more
europepmc   +1 more source

Genetics and the role it plays in craniofacial anomalies

Taylor McClinchey, Katherine E. Laudun, Nathaniel H. Robin   +2 more
openalex   +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

What is the Patient Compliance Rate for Nasopharyngoscopy as Documented in Clinical Reports? [PDF]

Cleft Palate Craniofac J
Chee-Williams JL, Stewart EK, Sitzman TJ, Perry JL.   +3 more
europepmc   +1 more source

Haploinsufficiency of Sf3b2 Revealed by a Craniofacial Microsomia with Atypical Presentation: A Case Report

Antoine Octau, Joël Ferri, Cindy Colson
openalex   +1 more source

The “Dynamic Tongue Contraction Technique” for Diagnosis of Soft Palate Cleft in Cases of Cleft Lip and Palate Sequence

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To present and evaluate the dynamic tongue contraction technique as a novel prenatal sonographic method for detecting soft palate clefts in fetuses with a cleft lip and palate (CLP) sequence. Methods This prospective cross‐sectional study was conducted at a tertiary care center between September 2023 and September 2024. Seven fetuses
Ettie Piura, Yoav Alpert, Or Touval, Offra Engel, Biader Samih Bilal, Yaniv Ebner, Ofer Markovitch   +6 more
wiley   +1 more source

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient. [PDF]

Birth Defects Res
Kerkeni N, Kharrat M, Kraoua L, Achour A, Maazoul F, Mrad R, Trabelsi M.   +6 more
europepmc   +1 more source