Results 71 to 80 of about 2,812 (206)

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus, Abdullah Canbal, Seda Guneysu, Erkan Gokce, Pakize Duzgun, İbrahim Barıs   +5 more
wiley   +1 more source

Diagnostic Yield and Genotype–Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain

European Journal of Neurology, Volume 33, Issue 1, January 2026.
Clinical exome sequencing (CES) was performed on 108 Spanish patients with suspected hereditary spastic paraparesis (HSP), using a virtual 129‐gene panel and HPO‐based variant filtering. A molecular diagnosis was achieved in 53% of cases, with 21 causative genes identified (8 novel variants), SPAST (AD) and SPG7 (AR) being the most frequent genetic ...
Lidón Carretero‐Vilarroig, Rafael Sivera, Raquel Baviera, Carmen Espinós, Nuria Muelas, Juan Francisco Vazquez‐Costa, Elena Aller, Luis Bataller, Teresa Jaijo   +8 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, Volume 66, Issue S2, Page 121-143, December 2025.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Functional and Aesthetic Reconstruction for Microtia Using the Combination of Superficial Circumflex Iliac Artery Perforator Superthin Flap Transfer and Skin Grafting

Plastic and Reconstructive Surgery, Global Open, 2019
Summary:. Microtia with congenital aural atresia is challenging to achieve aesthetically and functionally good results. We herein present a case where a vascularized superthin superficial circumflex iliac artery perforator (SCIP) flap was used for ...
Ryo Karakawa, MD, Takuya Iida, MD, PhD, Hidehiko Yoshimatsu, MD, Koji Kanayama, MD, PhD, Tatsuya Yamasoba, MD, PhD   +4 more
doaj   +1 more source

Congenital Nasal Choristoma (Hairy Polyp) in a Term Neonate: A Case Report and Review of the Literature

Clinical Case Reports, Volume 13, Issue 10, October 2025.
A term newborn with nasal mass caused by choristoma (hairy poly). ABSTRACT We describe the case of a term Hispanic male neonate with a nasal septum/inferior turbinate choristoma. The presented case report includes a review of the historical, radiological, surgical, and histological features, and the literature on this entity.
Surasak Puvabanditsin, Ali G. Saad, Arun Sangam, Anthony Poltronetti, Su Young Park, Amrryn Halari, Rajeev Mehta   +6 more
wiley   +1 more source

Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT This case report details the first confirmed diagnosis of Trisomy 13 (Patau syndrome) in Mali using Fluorescence In Situ Hybridization (FISH). The male newborn presented with multiple congenital anomalies, including polydactyly and micrognathia.
Alassane Baneye Maiga, Oumar Samassekou, Cheick Oumar Sidibé, Oumou Traoré, Belco Maiga, Mahamadou Traoré, Cheick Oumar Guinto, Guida Landouré   +7 more
wiley   +1 more source

Systematic Review of Quality of Life in Bone Anchored Hearing: Conductive vs. Unilateral Sensorineural Hearing Loss

The Laryngoscope, Volume 135, Issue 10, Page 3472-3484, October 2025.
The literature demonstrates that bone‐anchored hearing implants have a positive impact on auditory performance and quality of life (QoL), but these outcomes may not always correlate. This systematic review analyzed 56 articles to identify discrepancies in self‐reported, disease‐specific QoL benefits among patients with either unilateral sensorineural ...
Karina Théorêt, Jiahao Deng, Sabrina Daniela da Silva, Elena Guadagno, Sam J. Daniel   +4 more
wiley   +1 more source

Congenital right microtia and associated left preauricular skin tags, a case report

, 2018
Congenital malformations of the external and middle ear may have a genetic or an acquired background. Among the congenital malformations about 30% are associated with syndromes involving additional malformations.
Zakanj, Zora, Tanja Čujić, Zora Zakanj, Čižmešija, Tena, Čujić, Tanja, Tena Čižmešija   +5 more
core  

Systematic Review on Microtia: Current Knowledge and Future Directions

Children
Background: Microtia is a congenital outer ear deformity that causes the auricle to be absent or underdeveloped. It is frequently associated with external auditory canal atresia and causes hearing and psychosocial problems.
Filippo Hellies, Silvia Fracaro, Gino Marioni, Annalisa Trotta, Martina Todesco, Martina Casarin, Andrea Bagno, Elisabetta Zanoletti, Giovanna Albertin, Laura Astolfi   +9 more
doaj   +1 more source

In Vitro Regeneration of Patient-specific Ear-shaped Cartilage and Its First Clinical Application for Auricular Reconstruction

EBioMedicine, 2018
Microtia is a congenital external ear malformation that can seriously influence the psychological and physiological well-being of affected children. The successful regeneration of human ear-shaped cartilage using a tissue engineering approach in a nude ...
Guangdong Zhou, Haiyue Jiang, Zongqi Yin, Yu Liu, Qingguo Zhang, Chen Zhang, Bo Pan, Jiayu Zhou, Xu Zhou, Hengyun Sun, Dan Li, Aijuan He, Zhiyong Zhang, Wenjie Zhang, Wei Liu, Yilin Cao   +15 more
doaj   +1 more source