Results 101 to 110 of about 39,956 (278)

Orthodontic Care of Cleidocranial Dysplasia Patients [PDF]

, 2015
Cleidocranial dysplasia (CCD) is a rare congenital deformity inherited as an autosomal genetic trait with the prevalence of 1:1,000,000. It is characterized by dental defomities such as retained primary teeth, presence of supernumerary teeth, skeletal ...
Rahime Burcu Nur, Feyza Ülkür, Didem Nalbantgil   +2 more
core   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

, 2008
Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity.
Saghieh S., Karam A.R., Tawil A., Khoury N.J., Birjawi G.A.   +4 more
core   +1 more source

Beyond Tradition: An Integrated Toxicological, Ecological, and Public Health Perspective on Aristolochic Acids

Journal of Applied Toxicology, EarlyView.
ABSTRACT Aristolochia species have long been used in traditional medicine for their presumed anti‐inflammatory, analgesic and antimicrobial properties. However, extensive toxicological and epidemiological evidence now demonstrates that these plants contain aristolochic acids (AAs) I and II, highly potent nephrotoxic, genotoxic, and carcinogenic ...
Victor Ventura de Souza, Lara Rodrigues De Andrade, Tatiana da Silva Souza   +2 more
wiley   +1 more source

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims, Lou Pistorius, Denise Sproul, Catherine Anne Cluver   +3 more
wiley   +1 more source

K-Ras and β-catenin mutations cooperate with Fgfr3 mutations in mice to promote tumorigenesis in the skin and lung, but not in the bladder [PDF]

, 2011
The human fibroblast growth factor receptor 3 (FGFR3) gene is frequently mutated in superficial urothelial cell carcinoma (UCC). To test the functional significance of FGFR3 activating mutations as a ‘driver’ of UCC, we targeted the expression of mutated
Taketo, M.M., Leung, H.Y., Hing Y. Leung, Wu, X.-R., Iwata, T., Mona Foth, Morris, C.-A., Owen J. Sansom, Lukram Babloo Singh, Tomoko Iwata, Imran Ahmad, Carol-Ann Morris, Makoto Mark Taketo, Singh, L.B., Foth, M., Sansom, O.J., Xue-Ru Wu, Ahmad, I.   +17 more
core   +1 more source

Artificial Intelligence‐Assisted Wireless Handheld Ultrasound for Screening Developmental Dysplasia of the Hip in Infants

Journal of Ultrasound in Medicine, EarlyView.
Objectives Ultrasonography is increasingly the preferred method for infant hip screening to enable timely diagnosis and treatment of developmental dysplasia of the hip (DDH). However, its reliance on experienced specialists and bulky equipment limits its application in routine screening, particularly in resource‐limited and remote settings. We aimed to
Dandan Zhang, Simiao Tao, Ping Chen, Jiangtao Wang, Yu Yang, Xiuxiu Zhang, Tieqiang Wang, Hailin Pan, Jiong Chen, Baoying Ye   +9 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Prenatal sonographic diagnosis of skeletal dysplasias

, 2009
OBJECTIVE: To assess the types and numbers of cases, gestational age at specific prenatal diagnosis and diagnostic accuracy of the diagnosis of skeletal dysplasias in a prenatal population from a single tertiary center.
Daumer-Haas, C, Tutschek, B, S. Minderer, A. Nerlich, Schramm, T, K. P. Gloning, Nerlich, A, K. Hörtnagel, Gloning, K P, T. Schramm, C. Daumer‐Haas, Minderer, S, B. Tutschek, Hörtnagel, K   +13 more
core   +1 more source