Results 141 to 150 of about 212,806 (348)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti +14 more
wiley +1 more source
Schwannomatosis of the Spinal Accessory Nerve: A Case Report. [PDF]
, 2019 Schwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent.
Chin, Cynthia T +4 more
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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 +13 more
wiley +1 more source
Clinical Reasoning: An unusual cause of multiple cranial nerve impairment [PDF]
, 2012 Vincent Roubeau +7 more
openalex +1 more source
Annals of Neurology, EarlyView.Objective To evaluate the real‐world safety and efficacy for standard surgical risk patients with extracranial internal carotid artery disease undergoing transcarotid artery revascularization. Methods ROADSTER 3 is a prospective, multicenter, single‐arm post‐approval study.
Jeffrey Jim +15 more
wiley +1 more source
I see double! Searching for the abnormal cranial nerve in diplopia [PDF]
Ángela Guarnizo, Carlos Alberto Torres
openalex +1 more source
The 3rd Cranial Nerve Palsy due to Posterior Communicating Artery Aneurism Mimicking Acute Vestibulopathy (Vestbular Neuritis) [PDF]
, 2009 Kyung Sub Yun +3 more
openalex +1 more source
Early synapsids neurosensory diversity revealed by CT and synchrotron scanning
The Anatomical Record, EarlyView.Abstract Non‐mammaliaform synapsids (NMS) represent the closest relatives of today's mammals among the early amniotes. Exploring their brain and nervous system is key to understanding how mammals evolved. Here, using CT and Synchrotron scanning, we document for the first time three extreme cases of neurosensory and behavioral adaptations that probe ...
J. Benoit +6 more
wiley +1 more source
Life expectancy of Humans is on the rise. World’s human population is aging rapidly. According to a report of US census Bureau nearly 24% of current world population is above the age of 50. This is a phenomenal number.
Balasubramanian, Thiagarajan
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The Anatomical Record, EarlyView.Abstract The three mammalian auditory ossicles enhance sound transmission from the tympanic membrane to the inner ear. The anterior anchoring of the malleus is one of the key characters for functional classification of the auditory ossicles. Previous studies revealed a medial outgrowth of the mallear anterior process, the processus internus ...
Franziska Fritzsche +2 more
wiley +1 more source