Results 131 to 140 of about 506,849 (231)

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Ontogeny of a Brazilian Late Triassic Traversodontid (Cynodontia, Cynognathia): Anatomical and Paleoecological Implications. [PDF]

J Morphol
Roese-Miron L, Kerber L.
europepmc   +1 more source

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold, Mikko Valtanen, Kari Auranen, Stina Syrjänen, Sirkku Peltonen, Juha Peltonen, Roope A. Kallionpää   +6 more
wiley   +1 more source

Computed Tomography Findings of Children Under 3 Years of Age with Mild Traumatic Brain Injury (TBI) and No Neurological Focal Signs. [PDF]

J Clin Med
Markovic K, Djuricic G, Milojkovic D, Banovac D, Davidovic K, Vasin D, Sisevic J, Zagorac S, Gluscevic B, Bokonjic D, Djulejic V, Milic N.   +11 more
europepmc   +1 more source

Unilateral Versus Bilateral Endoscopic Resection of Olfactory Neuroblastoma: Pooled Analysis From Prospective and Retrospective Multicenter Data

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy primarily treated with surgery. For tumors arising from the olfactory area, traditional treatment involves transcribriform resection of the anterior cranial fossa. Surgery can be performed with unilateral or bilateral resection depending on extent of involvement; however ...
Arash Abiri, Theodore V. Nguyen, Haidee Chen, Elise Krippaehne, David K. Lerner, Arifeen S. Rahman, Pooya Roozdar, Brandon R. Rosvall, Michael Sabbaj, Alan D. Workman, Shannon Wu, Nithin D. Adappa, Daniel M. Beswick, Eugene H. Chang, Michael T. Chang, Garret Choby, Jacob G. Eide, Jennifer E. Douglas, Mathew Geltzeiler, Michael A. Kohanski, Peter H. Hwang, Christopher H. Le, Jivianne T. Lee, Jayakar V. Nayak, James N. Palmer, Zara M. Patel, Carlos D. Pinheiro‐Neto, Adam C. Resnick, Timothy L. Smith, Carl H. Snyderman, Maie A. St John, Phillip B. Storm, Jeffrey D. Suh, Marilene B. Wang, Eric W. Wang, Edward C. Kuan   +35 more
wiley   +1 more source

Correction: The NLRP3 inflammasome in allergic diseases: mechanisms and therapeutic implications. [PDF]

Clin Exp Med
Zhou H, Wang L, Lv W, Yu H.
europepmc   +1 more source

Persistent Eosinophilic Inflammation Is Not a Feature of Type 2 CRS Patients Failing Anti‐IL‐5R Therapy and Requiring Class Switching to Anti‐IL‐4/13

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Type 2 inflammation dominates eosinophilic chronic rhinosinusitis (eCRS) and adult onset asthma. IL‐4, ‐5, and ‐13 are prominent disease mediators. Disease control can be achieved with biologic therapies. However, despite some patients entering remission, others experience poor control. Aim We aimed to describe eCRS patients treated
Peta‐Lee Sacks, Christian M Meerwein, Peter Earls, Cedric Thiel, Christine Choy, Raewyn G Campbell, Raymond Sacks, Larry Kalish, Richard J Harvey   +8 more
wiley   +1 more source

Self-propagating wave drives morphogenesis of skull bones in vivo. [PDF]

Nat Commun
Dang Y, Lattner J, Lahola-Chomiak AA, Afonso DA, Ulbricht E, Taubenberger A, Rulands S, Tabler JM.   +7 more
europepmc   +1 more source

A Novel International Endoscopic Sphenoid Surgery Classification (IESSC): A Delphi Consensus

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Advancements in endoscopic sinus and skull base surgery created a need for standardized terminology to describe sphenoid sinus surgery. Although classification systems exist for other sinuses, one for endoscopic sphenoid sinus surgery is lacking.
Hussain Albaharna, Abdulaziz Alrasheed, Abdulaziz AlQahtani, Alkis J. Psaltis, Amin Javer, Cem Meco, Christos Georgalas, Eric W. Wang, Isam Alobid, Kazuhiro Omura, Luis Fernando Macias‐Valle, Marc Tewfik, Narayanan Prepageran, Paolo Battaglia, Paolo Castelnuovo, Ricardo Carrau, Richard Douglas, Richard Harvey, Roy R. Casiano, Shahzada Ahmed, Saad Alsaleh   +20 more
wiley   +1 more source

A Rare Case of Non-traumatic Tension Pneumocephalus Following a Lumbar Puncture: Unusual Complications of a Common Procedure. [PDF]

Cureus
Ong W, Liu RW, Low XZ, Kei PL, Lai DD.
europepmc   +1 more source