Search Results - "ROBSON, Caroline D"

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects by Park, Jong G., Tischfield, Max A., Nugent, Alicia A., Cheng, Long, Di Gioia, Silvio Alessandro, Chan, Wai-Man, Maconachie, Gail, Bosley, Thomas M., Summers, C. Gail, Hunter, David G., Robson, Caroline D., Gottlob, Irene, Engle, Elizabeth C.

“…Duane retraction syndrome (DRS) is a congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze. Here,…”
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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome by Di Gioia, Silvio Alessandro, Connors, Samantha, Matsunami, Norisada, Cannavino, Jessica, Rose, Matthew F., Gilette, Nicole M., Artoni, Pietro, de Macena Sobreira, Nara Lygia, Chan, Wai-Man, Webb, Bryn D., Robson, Caroline D., Cheng, Long, Van Ryzin, Carol, Ramirez-Martinez, Andres, Mohassel, Payam, Leppert, Mark, Scholand, Mary Beth, Grunseich, Christopher, Ferreira, Carlos R., Hartman, Tyler, Hayes, Ian M., Morgan, Tim, Markie, David M., Fagiolini, Michela, Swift, Amy, Chines, Peter S., Speck-Martins, Carlos E., Collins, Francis S., Jabs, Ethylin Wang, Bönnemann, Carsten G., Olson, Eric N., Carey, John C., Robertson, Stephen P., Manoli, Irini, Engle, Elizabeth C.

“…Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c) , is a well-conserved plasma…”
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Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura by Tischfield, Max A., Robson, Caroline D., Gilette, Nicole M., Chim, Shek Man, Sofela, Folasade A., DeLisle, Michelle M., Gelber, Alon, Barry, Brenda J., MacKinnon, Sarah, Dagi, Linda R., Nathans, Jeremy, Engle, Elizabeth C.

“…Dural cerebral veins (CV) are required for cerebrospinal fluid reabsorption and brain homeostasis, but mechanisms that regulate their growth and remodeling are…”
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Biallelic mutations in human DCC cause developmental split-brain syndrome by Jamuar, Saumya S, Schmitz-Abe, Klaus, D'Gama, Alissa M, Drottar, Marie, Chan, Wai-Man, Peeva, Maya, Servattalab, Sarah, Lam, Anh-Thu N, Delgado, Mauricio R, Clegg, Nancy J, Zayed, Zayed Al, Dogar, Mohammad Asif, Alorainy, Ibrahim A, Jamea, Abdullah Abu, Abu-Amero, Khaled, Griebel, May, Ward, Wendy, Lein, Ed S, Markianos, Kyriacos, Barkovich, A James, Robson, Caroline D, Grant, P Ellen, Bosley, Thomas M, Engle, Elizabeth C, Walsh, Christopher A, Yu, Timothy W

“…Timothy Yu and colleagues report that biallelic mutations in DCC cause a developmental syndrome characterized by widespread disruption of midline-bridging…”
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High dose dexmedetomidine as the sole sedative for pediatric MRI by MASON, KEIRA P., ZURAKOWSKI, DAVID, ZGLESZEWSKI, STEVEN E., ROBSON, CAROLINE D., CARRIER, MAUREEN, HICKEY, PAUL R., DINARDO, JAMES A.

“…Summary Objective:  This large‐scale retrospective review evaluates the sedation profile of dexmedetomidine. Aim:  To determine the hemodynamic responses,…”
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Pediatric Chronic Nonbacterial Osteomyelitis of the Jaw: Clinical, Radiographic, and Histopathologic Features by Padwa, Bonnie L., DMD, MD, Dentino, Kelley, DMD, Robson, Caroline D., MB, ChB, Woo, Sook Bin, DMD, Kurek, Kyle, MD, Resnick, Cory M., DMD, MD

“…Abstract Purpose Chronic nonbacterial osteomyelitis (CNO) is a focal sterile inflammatory osteitis in children that most commonly develops in the long bones…”
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HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice by Webb, Bryn D., Shaaban, Sherin, Gaspar, Harald, Cunha, Luis F., Schubert, Christian R., Hao, Ke, Robson, Caroline D., Chan, Wai-Man, Andrews, Caroline, MacKinnon, Sarah, Oystreck, Darren T., Hunter, David G., Iacovelli, Anthony J., Ye, Xiaoqian, Camminady, Anne, Engle, Elizabeth C., Jabs, Ethylin Wang

“…Members of the highly conserved homeobox (HOX) gene family encode transcription factors that confer cellular and tissue identities along the antero-posterior…”
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Magnetic Resonance Imaging Features and Clinical Findings in Pediatric Idiopathic Intracranial Hypertension: A Case–Control Study by Gilbert, Aubrey L., Vaughn, Jennifer, Whitecross, Sarah, Robson, Caroline D., Zurakowski, David, Heidary, Gena

“…The purpose of this study is to identify salient magnetic resonance imaging (MRI) findings of pediatric IIH, to determine the relevance of these findings with…”
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Conductive Hearing Loss in Children by Robson, Caroline D.

“…A variety of congenital and acquired disorders result in pediatric conductive hearing loss. Malformations of the external auditory canal are invariably…”
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Imaging of Pediatric Orbital Diseases by Vachha, Behroze A., MD, PhD, Robson, Caroline D., MB,ChB

“…This article reviews a variety of congenital and developmental disorders of the pediatric orbit with particular emphasis on ocular lesions, followed by a…”
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Prenatal Imaging of Craniosynostosis Syndromes by Ketwaroo, Pamela Deaver, MD, Robson, Caroline D., MB, ChB, Estroff, Judy A., MD

“…This article reviews the prenatal diagnosis of those syndromes in which craniosynostosis is a key feature. Although not an exhaustive list, the authors…”
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Using spectral-domain optical coherence tomography to detect optic neuropathy in patients with craniosynostosis by Dagi, Linda R., MD, Tiedemann, Laura M., BS, Heidary, Gena, MD, PhD, Robson, Caroline D., MB, ChB, Hall, Amber M., MPH, Zurakowski, David, PhD

“…Background Detecting and monitoring optic neuropathy in patients with craniosynostosis is a clinical challenge due to limited cooperation, and subjective…”
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Fetal Head and Neck Imaging by Patino, Manuel, Jaimes, Camilo, Robson, Caroline D.

“…Prenatal MRI plays an essential role in the evaluation of the head and neck. This article overviews technical considerations and both isolated and syndromic…”
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Unilateral Congenital Lacrimal Gland Agenesis With Contralateral Lacrimal Gland Hypoplasia by Talsania, Sonali D, Robson, Caroline D, Mantagos, Iason S

“…Congenital alacrima is a form of primary lacrimal deficiency characterized by aplasia or hypoplasia of the lacrimal gland. The puncta and salivary glands may…”
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Success of Nonsedated Neuroradiologic MRI in Children 1-7 Years Old by Jaimes, Camilo, Robson, Caroline D, Machado-Rivas, Fedel, Yang, Edward, Mahan, Kellyn, Bixby, Sarah D, Robertson, Richard L

“…MRI use and the need for monitored anesthesia care (MAC) in children have increased. However, MAC is associated with examination delays, increased cost, and…”
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Syndromic Hearing Loss in Children by Lewis, Martin, Robson, Caroline D., D‘Arco, Felice

“…Pattern recognition of specific temporal bone radiological phenotypes, in association with abnormalities in other organ systems, is critical in the diagnosis…”
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Non-Syndromic Sensorineural Hearing Loss in Children by Robson, Caroline D., Lewis, Martin, D’Arco, Felice

“…Pediatric hearing loss is common with significant consequences in terms of language, communication, social and emotional development, and academic advancement…”
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CTNNB1 and APC Mutations in Sinonasal Myxoma: Expanding the Spectrum of Tumors Driven By WNT/β-catenin Pathway by Chen, Sonja, Gallant, Sara, Cunningham, Michael J., Robson, Caroline D., Church, Alanna J., Perez-Atayde, Antonio R., Al-Ibraheemi, Alyaa

“…Sinonasal myxoma (SNM) is a rare, benign mesenchymal neoplasm with distinct clinicopathologic features and aberrant nuclear localization of β-catenin by…”
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Safety and efficacy of gamma‐secretase inhibitor nirogacestat (PF‐03084014) in desmoid tumor: Report of four pediatric/young adult cases by Takahashi, Takuto, Prensner, John R., Robson, Caroline D., Janeway, Katherine A., Weigel, Brenda J.

“…Systemic therapy for pediatric desmoid tumors has been challenged by a lack of high‐quality clinical evidence and potential adverse effects. The…”
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Developmental conjunctival cyst of the eyelid in a child by Robb, Richard M., MD, Elliott, Alexandra T., MD, Robson, Caroline D., ChB

“…Conjunctival cysts unrelated to surgery or trauma are uncommon adnexal lesions in children and may be difficult to recognize. We report the clinical and…”
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