Search Results - "Robson, Caroline D."

Otitic hydrocephalus and papilloedema—re-evaluating a treatment paradigm

Chen, Tiffany A., Weinert, Marguerite C., See, Alfred P., Kielian, Agnieszka, Lehman, Laura L., Remenschneider, Aaron K., Robson, Caroline D., Heidary, Gena, Dagi, Linda R., Gise, Ryan^{Aff1, IDs4143302403455w_cor1}

Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study

D’Arco, Felice, Kandemirli, Sedat G., Dahmoush, Hisham M., Alves, Cesar A. P. F., Severino, Mariasavina, Dellepiane, Francesco, Robson, Caroline D., Lequin, Maarten H., Rossi-Espagnet, Camilla, O’Brien, William T., Nash, Robert, Clement, Emma, Juliano, Amy F.^{Aff10, IDs0023402403386z_cor13}

Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders

Andersen, Rebecca E.^{Aff1, Aff2, Aff3}, Alkuraya, Ibrahim F.^{Aff4, Aff5}, Ajeesh, Abna, Sakamoto, Tyler^{Aff1, Aff5}, Mena, Elijah L.^{Aff2, Aff6}, Amr, Sami S.^{Aff2, Aff7}, Romi, Hila^{Aff2, Aff4}, Kenna, Margaret A.^{Aff2, Aff8}, Robson, Caroline D.^{Aff2, Aff8, Aff9}, Wilch, Ellen S., Nalbandian, Katarena, Piña-Aguilar, Raul^{Aff2, Aff4}, Walsh, Christopher A.^{Aff1, Aff2, Aff3, Aff10}, Morton, Cynthia C.^{Aff2, Aff3, Aff4, Aff7, Aff11, IDs0043902402693y_cor14}

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Tenney, Alan P, Di Gioia, Silvio Alessandro, Webb, Bryn D, Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J, Barry, Brenda J, Ray, Tammy, Kosicki, Michael, Robson, Caroline D, Zhang, Zhongyang, Collins, Thomas E, Gelber, Alon, Pratt, Brandon M, Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E, Van Ryzin, Carol, Lehky, Tanya J, Zalewski, Christopher, King, Kelly A, Brewer, Carmen C, Thurm, Audrey, Snow, Joseph, Facio, Flavia M, Narisu, Narisu, Bonnycastle, Lori L, Swift, Amy, Chines, Peter S, Bell, Jessica L, Mohan, Suresh, Whitman, Mary C, Staffieri, Sandra E, Elder, James E, Demer, Joseph L, Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A, Brady, Angela F, Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W, Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H, Parker, Stephen CJ, Hadlock, Tessa A, Vissers, Lisenka ELM, van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S, Pennacchio, Len A, Manoli, Irini, Engle, Elizabeth C

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Systematic phenotype and genotype characterization of Moebius syndrome

Webb, Bryn D. ^{1, 2}, Jurgens, Julie A. ^{3, 4, 5, 6}, Narisu, Narisu ⁷, Zhang, Zhongyang ¹, Barry, Brenda J. ^{3, 4, 8}, Van Ryzin, Carol ⁹, Bonnycastle, Lori L. ⁷, Chan, Wai-Man ^{3, 4, 5, 6, 8}, Yan, Tingfen ⁷, Di Gioia, Silvio Alessandro ^{3, 4, 5, 6, 10}, Swift, Amy J. ⁷, MacKinnon, Sarah E. ^{11, 12}, Oystreck, Darren T. ^{11, 13, 14}, Rucker, Janet C. ^{15, 16, 17, 18}, Frempong, Tamiesha ¹⁶, Whitman, Mary C. ^{3, 11, 12}, FitzGibbon, Edmond J. ¹⁹, Lee, Janice S. ²⁰, Hao, Ke ¹, Andrews, Caroline ⁴, Erazo, Monica ¹, Facio, Flavia M. ⁷, Shaaban, Sherin ^{3, 4, 5, 21}, Naidich, Thomas P. ²², Chines, Peter S. ⁷, Lehky, Tanya J. ²³, Toro, Camilo ²⁴, Gropman, Andrea L. ²⁵, Butman, John A. ²⁶, Zalewski, Christopher K. ²⁷, Brewer, Carmen C. ²⁷, Thurm, Audrey ²⁸, Snow, Joseph ²⁹, Paul, Scott M. ³⁰, Brooks, Brian P. ³¹, Pierpaoli, Carlo ³², Robson, Caroline D. ^{33, 34}, Hunter, David G. ^{11, 12}, Collins, Francis S. ^{7, ∗}, Jabs, Ethylin Wang ^{1, 35, 36, 37, ∗}, Engle, Elizabeth C. ^{3, 4, 5, 6, 8, 11, 12, ∗}, Manoli, Irini ^{9, ∗}

Pediatric cerebrospinal fluid rhinorrhea caused by low flow vascular anomaly of the temporal bone: A case series

Huang, Victoria W., Ruiz-Gutierrez, Melisa, Spera, Erin, Adil, Eelam, Poe, Dennis S., Robson, Caroline D., Shearer, A. Eliot

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

Lecoquierre, François, Punt, A. Mattijs, Ebstein, Frédéric, Wallaard, Ilse, Verhagen, Rob, Studencka-Turski, Maja, Duffourd, Yannis, Moutton, Sébastien, Tran Mau-Them, Frédédic, Philippe, Christophe, Dean, John, Tennant, Stephen, Brooks, Alice S., van Slegtenhorst, Marjon A., Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, England, Eleina M., Martinez Ojeda, Mayra, Engle, Elizabeth C., Robson, Caroline D., Morrow, Michelle, Innes, A. Micheil, Lamont, Ryan, Sanderson, Matthea, Krüger, Elke, Thauvin, Christel, Distel, Ben, Faivre, Laurence, Elgersma, Ype, Vitobello, Antonio

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A multi-disciplinary team approach to pediatric malignant mandibular tumors

Hintze, Justin M., Afshar, Salim, Taghinia, Amir, Labow, Brian, Green, Mark, Robson, Caroline D., Marcus, Karen, Mack, Jennifer, Perez-Atayde, Antonio, Rahbar, Reza

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Guidelines for magnetic resonance imaging in pediatric head and neck pathologies: a multicentre international consensus paper

D’Arco, Felice^{Aff1, Aff2}, Mertiri, Livja^{Aff1, Aff3, IDs00234022029509_cor2}, de Graaf, Pim, De Foer, Bert, Popovič, Katarina S., Argyropoulou, Maria I., Mankad, Kshitij, Brisse, Hervé J.^{Aff8, Aff9}, Juliano, Amy, Severino, Mariasavina, Van Cauter, Sofie^{Aff12, Aff13}, Ho, Mai-Lan^{Aff14, Aff15}, Robson, Caroline D., Siddiqui, Ata^{Aff2, Aff17}, Connor, Steve^{Aff2, Aff17, Aff18}, Bisdas, Sotirios^{Aff19, Aff20}

Desmoid tumors of the head and neck in the pediatric population: Has anything changed?

Zhao, Cher X., Dombrowski, Natasha D., Perez-Atayde, Antonio R., Robson, Caroline D., Afshar, Salim, Janeway, Katherine A., Rahbar, Reza

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Whitman, Mary C.^{Aff1, Aff2}, Barry, Brenda J.^{Aff3, Aff4}, Robson, Caroline D.^{Aff5, Aff6}, Facio, Flavia M., Van Ryzin, Carol, Chan, Wai-Man^{Aff3, Aff4}, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela^{Aff13, Aff35}, FitzGibbon, Edmond J., Lee, Paul R.^{Aff7, Aff15}, Toro, Camilo, Paul, Scott M.^{Aff16, Aff17}, Abdul-Rahman, Omar A.^{Aff18, Aff36, Aff37}, Webb, Bryn D.^{Aff12, Aff19}, Jabs, Ethylin Wang^{Aff19, Aff20, Aff21}, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan^{Aff23, Aff24}, Ragnhild, Glad, Wirgenes, Katrine V.^{Aff26, Aff27}, Tham, Emma^{Aff28, Aff29}, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G.^{Aff1, Aff2}, Collins, Francis S.^{Aff7, Aff32}, Manoli, Irini^Aff7, Engle, Elizabeth C.^{Aff3, Aff4, Aff33, Aff34}

Biallelic mutations in human DCC cause developmental split-brain syndrome

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

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Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

Jurgens, Julie A.^{Aff1, Aff2, Aff3, Aff4}, Barry, Brenda J.^{Aff2, Aff5}, Lemire, Gabrielle, Chan, Wai-Man^{Aff1, Aff2, Aff3, Aff4, Aff5}, Whitman, Mary C.^{Aff1, Aff7, Aff8}, Shaaban, Sherin^{Aff1, Aff2, Aff3, Aff9}, Robson, Caroline D.^{Aff10, Aff11}, MacKinnon, Sarah^{Aff7, Aff8}, England, Eleina M.^{Aff12, Aff13, Aff14}, McMillan, Hugh J., Kelly, Christopher, Pratt, Brandon M.^{Aff1, Aff2, Aff3}, O’Donnell-Luria, Anne^{Aff12, Aff13, Aff14}, MacArthur, Daniel G.^{Aff12, Aff13, Aff17, Aff18}, Boycott, Kym M.^{Aff6, Aff19}, Hunter, David G.^{Aff7, Aff8}, Engle, Elizabeth C.^{Aff1, Aff2, Aff3, Aff4, Aff5, Aff7, Aff8, IDs41431020008047_cor18}

Mucoepidermoid carcinoma of the head and neck in children

Dombrowski, Natasha D., Wolter, Nikolaus E., Irace, Alexandria L., Cunningham, Michael J., Mack, Jennifer W., Marcus, Karen J., Vargas, Sara O., Perez-Atayde, Antonio R., Robson, Caroline D., Rahbar, Reza

Squamous cell carcinoma of the head and neck in children

Dombrowski, Natasha D., Wolter, Nikolaus E., Irace, Alexandria L., Robson, Caroline D., Perez-Atayde, Antonio R., Mack, Jennifer W., Rahbar, Reza

Vallecular cyst in the pediatric population: Evaluation and management

Li, Youjin, Irace, Alexandria L., Dombrowski, Natasha D., Perez-Atayde, Antonio R., Robson, Caroline D., Rahbar, Reza

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