Results 131 to 140 of about 222,909 (292)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Axonal mapping of the motor cranial nerves. [PDF]

Front Neuroanat, 2023
Tereshenko V, Maierhofer U, Dotzauer DC, Laengle G, Politikou O, Carrero Rojas G, Festin C, Luft M, Jaklin FJ, Hruby LA, Gohritz A, Farina D, Blumer R, Bergmeister KD, Aszmann OC.   +14 more
europepmc   +1 more source

Intraoperative monitoring of motor cranial nerves in skull base surgery

, 1995
Intraoperative monitoring of cranial nerves is performed to minimize postoperative cranial nerve dysfunction. We performed electrophysiologic monitoring of motor cranial nerves with a NIM 2 unit from Xomed Treace and patient multiplexer developed in our ...
Pelster, H., Amedee, R. G., Mann, W. J., Maurer, J.   +3 more
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

CRANIAL NERVES OF HETEROPNEUSTES FOSSILIS (BLOCH)

, 1994
Cranial nerves of Heteropneustes fossilis (Bl.) are ...
SINGH, H.S., PANDEY, K.C., KUMAR, YOUGESH   +2 more
core  

Author Response: Letter to the Editor—Reconsidering Control Logic and Translational Interpretation in TNEA‐Based Modulation of Hippocampal Oscillations

Advanced Science, EarlyView.
Zhongzhao Guo, Deheng Wang
wiley   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source

Lower Four Cranial Nerves in the Management of Glomus Jugulare: Anatomical Study. [PDF]

Int Arch Otorhinolaryngol, 2023
Fayed A, El-Deeb ME, Magnan J, Meller R, Deveze A, Elzayat S.   +5 more
europepmc   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source