Búsqueda | BVS CLAP/SMR-OPS/OMS

1.

Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.

Farncombe, Kirsten M; Wong, Derek; Norman, Maia L; Oldfield, Leslie E; Sobotka, Julia A; Basik, Mark; Bombard, Yvonne; Carile, Victoria; Dawson, Lesa; Foulkes, William D; Malkin, David; Karsan, Aly; Parkin, Patricia; Penney, Lynette S; Pollett, Aaron; Schrader, Kasmintan A; Pugh, Trevor J; Kim, Raymond H.

Am J Hum Genet ; 110(10): 1616-1627, 2023 10 05.

Artículo en Inglés | MEDLINE | ID: mdl-37802042

2.

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

Cohen, Jennifer L; Chakraborty, Pranesh; Fung-Kee-Fung, Karen; Schwab, Marisa E; Bali, Deeksha; Young, Sarah P; Gelb, Michael H; Khaledi, Hamid; DiBattista, Alicia; Smallshaw, Stacey; Moretti, Felipe; Wong, Derek; Lacroix, Catherine; El Demellawy, Dina; Strickland, Kyle C; Lougheed, Jane; Moon-Grady, Anita; Lianoglou, Billie R; Harmatz, Paul; Kishnani, Priya S; MacKenzie, Tippi C.

N Engl J Med ; 387(23): 2150-2158, 2022 12 08.

Artículo en Inglés | MEDLINE | ID: mdl-36351280

3.

Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-only versus paired tumor-normal sequencing.

Newman, Haley; Clark, Mary Egan; Wong, Derek; Wu, Jinhua; Brodeur, Garrett M; Hunger, Stephen P; Tasian, Sarah K; Olson, Timothy; Warren, Julia T; Teachey, David T; Bona, Kira; Schubert, Jeffrey; Golenberg, Netta; Patel, Maha; Denenberg, Elizabeth H; Fanning, Elizabeth A; Chen, Jiani; Luke, Tamara; Charles, Sarah; Gallo, Daniel; Cao, Kajia; Fu, Weixuan; Fan, Zhiqian; Surrey, Lea F; Wertheim, Gerald; Luo, Minjie; MacFarland, Suzanne P; Li, Marilyn M; Zhong, Yiming.

Haematologica ; 2024 Feb 22.

Artículo en Inglés | MEDLINE | ID: mdl-38385299

4.

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.

Quintero-Rivera, Fabiola; Eno, Celeste C; Sutanto, Christine; Jones, Kelly L; Nowaczyk, Malgorzata J M; Wong, Derek; Earl, Dawn; Mirzaa, Ghayda; Beck, Anita; Martinez-Agosto, Julian A.

Hum Genet ; 140(4): 681-690, 2021 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-33389145

5.

Cell-Free Exploration of the Natural Product Chemical Space.

Bogart, Jonathan W; Cabezas, Maria D; Vögeli, Bastian; Wong, Derek A; Karim, Ashty S; Jewett, Michael C.

Chembiochem ; 22(1): 84-91, 2021 01 05.

Artículo en Inglés | MEDLINE | ID: mdl-32783358

6.

Synthesis of Biologically Active Heterospirocycles through Iterative 1,3-Dipolar Cycloaddition Pathways.

Sharma, Pallavi; Ranga Prabhath, M R; Wong, Derek; Ampem-Lassen, Maame Adjoa; Bhat, Shreesha V; Williams, Luke; Carvalho, Teresa G.

J Org Chem ; 86(1): 1223-1230, 2021 01 01.

Artículo en Inglés | MEDLINE | ID: mdl-33316159

7.

Making heads or tails - the emergence of capicua (CIC) as an important multifunctional tumour suppressor.

Wong, Derek; Yip, Stephen.

J Pathol ; 250(5): 532-540, 2020 04.

Artículo en Inglés | MEDLINE | ID: mdl-32073140

8.

Survey of the Preparation of Cardiovascular Emergency Medications for Adult Cardiovascular Anesthesia.

Neira, Victor M; Scheffler, Matthias; Wong, Derek; Wang, Vivian; Hall, Richard I.

J Cardiothorac Vasc Anesth ; 35(6): 1813-1820, 2021 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-33020001

9.

TRIM25 promotes Capicua degradation independently of ERK in the absence of ATXN1L.

Wong, Derek; Sogerer, Lisa; Lee, Samantha S; Wong, Victor; Lum, Amy; Levine, Adrian B; Marra, Marco A; Yip, Stephen.

BMC Biol ; 18(1): 154, 2020 10 28.

Artículo en Inglés | MEDLINE | ID: mdl-33115448

10.

Developing patient resources to enable the exchange of healthy lifestyle information between clinicians and families of children with complex heart problems.

Saxena, Shikha; Vo, Jennifer; Millage, Jamie; Wong, Derek; Bélanger, Priscilla; Fournier, Amelie; Bodiam, Lorene; Allison, Archie; Longmuir, Patricia E.

Child Care Health Dev ; 47(3): 357-366, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33432602

11.

Pseudoaneurysm formation and rupture after stereotactic radiotherapy for cerebral arteriovenous malformation: a case report and review of literature.

Tsang, Anderson Chun On; Wong, Derek Ping Hong; Cheuk, Wah; Fok, Kam Fuk.

Br J Neurosurg ; 35(1): 116-118, 2021 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-29433331

12.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

Lee, Hane; Huang, Alden Y; Wang, Lee-Kai; Yoon, Amanda J; Renteria, Genecee; Eskin, Ascia; Signer, Rebecca H; Dorrani, Naghmeh; Nieves-Rodriguez, Shirley; Wan, Jijun; Douine, Emilie D; Woods, Jeremy D; Dell'Angelica, Esteban C; Fogel, Brent L; Martin, Martin G; Butte, Manish J; Parker, Neil H; Wang, Richard T; Shieh, Perry B; Wong, Derek A; Gallant, Natalie; Singh, Kathryn E; Tavyev Asher, Y Jane; Sinsheimer, Janet S; Krakow, Deborah; Loo, Sandra K; Allard, Patrick; Papp, Jeanette C; Palmer, Christina G S; Martinez-Agosto, Julian A; Nelson, Stanley F.

Genet Med ; 22(3): 490-499, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-31607746

13.

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Posset, Roland; Gropman, Andrea L; Nagamani, Sandesh C S; Burrage, Lindsay C; Bedoyan, Jirair K; Wong, Derek; Berry, Gerard T; Baumgartner, Matthias R; Yudkoff, Marc; Zielonka, Matthias; Hoffmann, Georg F; Burgard, Peter; Schulze, Andreas; McCandless, Shawn E; Garcia-Cazorla, Angeles; Seminara, Jennifer; Garbade, Sven F; Kölker, Stefan.

Ann Neurol ; 86(1): 116-128, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-31018246

14.

Characterisation of isocitrate dehydrogenase 1/isocitrate dehydrogenase 2 gene mutation and the d-2-hydroxyglutarate oncometabolite level in dedifferentiated chondrosarcoma.

Mohammad, Nissreen; Wong, Derek; Lum, Amy; Lin, Jonah; Ho, Julie; Lee, Cheng-Han; Yip, Stephen.

Histopathology ; 76(5): 722-730, 2020 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-31609487

15.

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Diaz, George A; Schulze, Andreas; Longo, Nicola; Rhead, William; Feigenbaum, Annette; Wong, Derek; Merritt, J Lawrence; Berquist, William; Gallagher, Renata C; Bartholomew, Dennis; McCandless, Shawn E; Smith, Wendy E; Harding, Cary O; Zori, Roberto; Lichter-Konecki, Uta; Vockley, Jerry; Canavan, Colleen; Vescio, Thomas; Holt, Robert J; Berry, Susan A.

Mol Genet Metab ; 127(4): 336-345, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31326288

16.

Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.

Klein, Steven D; Nguyen, Dzung C; Bhakta, Viraj; Wong, Derek; Chang, Vivian Y; Davidson, Tom B; Martinez-Agosto, Julian A.

Am J Med Genet A ; 179(12): 2517-2531, 2019 12.

Artículo en Inglés | MEDLINE | ID: mdl-31639285

17.

Machine learning classifies cancer.

Wong, Derek; Yip, Stephen.

Nature ; 555(7697): 446-447, 2018 03 22.

Artículo en Inglés | MEDLINE | ID: mdl-29565394

18.

Machine learning classifies cancer.

Wong, Derek; Yip, Stephen.

Nature ; 555(7697): 446-447, 2018 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-32034348

19.

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.

Takeuchi, Hideyuki; Wong, Derek; Schneider, Michael; Freeze, Hudson H; Takeuchi, Megumi; Berardinelli, Steven J; Ito, Atsuko; Lee, Hane; Nelson, Stanley F; Haltiwanger, Robert S.

Glycobiology ; 28(5): 276-283, 2018 05 01.

Artículo en Inglés | MEDLINE | ID: mdl-29452367

20.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Wong, Derek; Tortorelli, Silvia; Bishop, Lisa; Sellars, Elizabeth A; Schimmenti, Lisa A; Gallant, Natalie; Prada, Carlos E; Hopkin, Robert J; Leslie, Nancy D; Berry, Susan A; Rosenblatt, David S; Fair, Amy L; Matern, Dietrich; Raymond, Kimiyo; Oglesbee, Devin; Rinaldo, Piero; Gavrilov, Dimitar.

Genet Med ; 18(2): 162-7, 2016 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-25856670

BVS CLAP/SMR-OPS/OMS

Centro Latinoamericano de Perinatología, Salud de la Mujer y Reproductiva

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Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-only versus paired tumor-normal sequencing.

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.

Cell-Free Exploration of the Natural Product Chemical Space.

Synthesis of Biologically Active Heterospirocycles through Iterative 1,3-Dipolar Cycloaddition Pathways.

Making heads or tails - the emergence of capicua (CIC) as an important multifunctional tumour suppressor.

Survey of the Preparation of Cardiovascular Emergency Medications for Adult Cardiovascular Anesthesia.

TRIM25 promotes Capicua degradation independently of ERK in the absence of ATXN1L.

Developing patient resources to enable the exchange of healthy lifestyle information between clinicians and families of children with complex heart problems.

Pseudoaneurysm formation and rupture after stereotactic radiotherapy for cerebral arteriovenous malformation: a case report and review of literature.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Characterisation of isocitrate dehydrogenase 1/isocitrate dehydrogenase 2 gene mutation and the d-2-hydroxyglutarate oncometabolite level in dedifferentiated chondrosarcoma.

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.

Machine learning classifies cancer.

Machine learning classifies cancer.

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.