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1.

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.

Genet Med; 26(6): 101119, 2024 Mar 07.

Artículo en Inglés | MEDLINE | ID: mdl-38465576

2.

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

D'Arco, Felice; Mertiri, Livja; de Graaf, Pim; De Foer, Bert; Popovic, Katarina S; Argyropoulou, Maria I; Mankad, Kshitij; Brisse, Hervé J; Juliano, Amy; Severino, Mariasavina; Van Cauter, Sofie; Ho, Mai-Lan; Robson, Caroline D; Siddiqui, Ata; Connor, Steve; Bisdas, Sotirios.

Neuroradiology; 64(6): 1081-1100, 2022 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-35460348

3.

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

Whitman, Mary C; Barry, Brenda J; Robson, Caroline D; Facio, Flavia M; Van Ryzin, Carol; Chan, Wai-Man; Lehky, Tanya J; Thurm, Audrey; Zalewski, Christopher; King, Kelly A; Brewer, Carmen; Almpani, Konstantinia; Lee, Janice S; Delaney, Angela; FitzGibbon, Edmond J; Lee, Paul R; Toro, Camilo; Paul, Scott M; Abdul-Rahman, Omar A; Webb, Bryn D; Jabs, Ethylin Wang; Moller, Hans Ulrik; Larsen, Dorte Ancher; Antony, Jayne H; Troedson, Christopher; Ma, Alan; Ragnhild, Glad; Wirgenes, Katrine V; Tham, Emma; Kvarnung, Malin; Maarup, Timothy James; MacKinnon, Sarah; Hunter, David G; Collins, Francis S; Manoli, Irini; Engle, Elizabeth C.

Hum Genet; 140(12): 1709-1731, 2021 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-34652576

4.

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

Di Gioia, Silvio Alessandro; Shaaban, Sherin; Tüysüz, Beyhan; Elcioglu, Nursel H; Chan, Wai-Man; Robson, Caroline D; Ecklund, Kirsten; Gilette, Nicole M; Hamzaoglu, Azmi; Tayfun, Gulsen Akay; Traboulsi, Elias I; Engle, Elizabeth C.

Am J Hum Genet; 103(1): 115-124, 2018 07 05.

Artículo en Inglés | MEDLINE | ID: mdl-29887215

5.

Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.

Stadelmaier, Rachel T; Kenna, Margaret A; Barrett, Devon; Mullen, Thomas E; Bodamer, Olaf; Agrawal, Pankaj B; Robson, Caroline D; Wojcik, Monica H.

Am J Med Genet A; 185(12): 3770-3783, 2021 12.

Artículo en Inglés | MEDLINE | ID: mdl-34369642

6.

Success of Nonsedated Neuroradiologic MRI in Children 1-7 Years Old.

Jaimes, Camilo; Robson, Caroline D; Machado-Rivas, Fedel; Yang, Edward; Mahan, Kellyn; Bixby, Sarah D; Robertson, Richard L.

AJR Am J Roentgenol; 216(5): 1370-1377, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-32783551

7.

Safety and efficacy of gamma-secretase inhibitor nirogacestat (PF-03084014) in desmoid tumor: Report of four pediatric/young adult cases.

Takahashi, Takuto; Prensner, John R; Robson, Caroline D; Janeway, Katherine A; Weigel, Brenda J.

Pediatr Blood Cancer; 67(10): e28636, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32762028

8.

Altered White Matter Organization in the TUBB3 E410K Syndrome.

Grant, P Ellen; Im, Kiho; Ahtam, Banu; Laurentys, Cynthia T; Chan, Wai-Man; Brainard, Maya; Chew, Sheena; Drottar, Marie; Robson, Caroline D; Drmic, Irene; Engle, Elizabeth C.

Cereb Cortex; 29(8): 3561-3576, 2019 07 22.

Artículo en Inglés | MEDLINE | ID: mdl-30272120

9.

Diagnostic equivalency of fast T2 and FLAIR sequences for pediatric brain MRI: a pilot study.

Jaimes, Camilo; Yang, Edward; Connaughton, Pauline; Robson, Caroline D; Robertson, Richard L.

Pediatr Radiol; 50(4): 550-559, 2020 04.

Artículo en Inglés | MEDLINE | ID: mdl-31863192

10.

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

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.

Am J Hum Genet; 98(6): 1220-1227, 2016 06 02.

Artículo en Inglés | MEDLINE | ID: mdl-27181683

11.

Neuroimaging of Children With Surgically Treated Hydrocephalus: A Practical Approach.

Robson, Caroline D; MacDougall, Robert D; Madsen, Joseph R; Warf, Benjamin C; Robertson, Richard L.

AJR Am J Roentgenol; 208(2): 413-419, 2017 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-27845838

12.

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

D'Arco, Felice; Mertiri, Livja; de Graaf, Pim; De Foer, Bert; Popovic, Katarina S; Argyropoulou, Maria I; Mankad, Kshitij; Brisse, Hervé J; Juliano, Amy; Severino, Mariasavina; Van Cauter, Sofie; Ho, Mai-Lan; Robson, Caroline D; Siddiqui, Ata; Connor, Steve; Bisdas, Sotirios.

Neuroradiology; 64(6): 1309, 2022 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-35488917

13.

Reversal of Visual Loss From Skull Base Osteomyelitis in a Pediatric Patient.

Ma, Kevin K; Robson, Caroline D; Gaier, Eric D; Gise, Ryan.

J Neuroophthalmol; 41(4): e728-e730, 2021 Dec 01.

Artículo en Inglés | MEDLINE | ID: mdl-33110009

14.

Pediatric Chronic Nonbacterial Osteomyelitis of the Jaw: Clinical, Radiographic, and Histopathologic Features.

Padwa, Bonnie L; Dentino, Kelley; Robson, Caroline D; Woo, Sook Bin; Kurek, Kyle; Resnick, Cory M.

J Oral Maxillofac Surg; 74(12): 2393-2402, 2016 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-27318191

15.

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

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.

Am J Hum Genet; 91(1): 171-9, 2012 Jul 13.

Artículo en Inglés | MEDLINE | ID: mdl-22770981

16.

CT and MRI of congenital nasal lesions in syndromic conditions.

Ginat, Daniel T; Robson, Caroline D.

Pediatr Radiol; 45(7): 1056-65, 2015 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-25573243

17.

Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.

Heidary, Gena; Calderwood, Laurel; Cox, Gerald F; Robson, Caroline D; Teot, Lisa A; Mullon, Jennifer; Anselm, Irina.

J Neuroophthalmol; 34(1): 39-43, 2014 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-24284555

18.

Single-institution Series of Hirayama Disease in North America.

Lynch, Benjamin T; Slingerland, Anna L; Robson, Caroline D; Ghosh, Partha S; Hedequist, Daniel J; Proctor, Mark R; Fehnel, Katie P.

Clin Spine Surg; 37(1): 9-14, 2024 02 01.

Artículo en Inglés | MEDLINE | ID: mdl-37491712

19.

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens, Julie A; Barry, Brenda J; Chan, Wai-Man; MacKinnon, Sarah; Whitman, Mary C; Matos Ruiz, Paola M; Pratt, Brandon M; England, Eleina M; Pais, Lynn; Lemire, Gabrielle; Groopman, Emily; Glaze, Carmen; Russell, Kathryn A; Singer-Berk, Moriel; Di Gioia, Silvio Alessandro; Lee, Arthur S; Andrews, Caroline; Shaaban, Sherin; Wirth, Megan M; Bekele, Sarah; Toffoloni, Melissa; Bradford, Victoria R; Foster, Emma E; Berube, Lindsay; Rivera-Quiles, Cristina; Mensching, Fiona M; Sanchis-Juan, Alba; Fu, Jack M; Wong, Isaac; Zhao, Xuefang; Wilson, Michael W; Weisburd, Ben; Lek, Monkol; Brand, Harrison; Talkowski, Michael E; MacArthur, Daniel G; O'Donnell-Luria, Anne; Robson, Caroline D; Hunter, David G; Engle, Elizabeth C.

medRxiv; 2024 Mar 26.

Artículo en Inglés | MEDLINE | ID: mdl-38585811

20.

Conductive Hearing Loss in Children.

Robson, Caroline D.

Neuroimaging Clin N Am; 33(4): 543-562, 2023 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-37741657

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