Pesquisa | Portal de Pesquisa da BVS

1.

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.

Horovitz, Dafne D G; Leão, Emília K E A; Ribeiro, Erlane M; Martins, Ana M; Barth, Anneliese L; Neri, João I C F; Kerstenetzky, Marcelo; Siqueira, Ana C M; Ribeiro, Bethania F R; Kim, Chong A; Santos, Francisca C; Franco, José F S; Lichtvan, Leniza C L; Giuliani, Liane R; Rodrigues, Maria Do C S; Bonatti, Renata C F; Teixeira, Thaís B; Gonçalves, Alexandra; Lourenço, Charles M; Pereira, Ane S S; Acosta, Angelina X.

Mol Genet Metab ; 2021 Feb 27.

Artigo em Inglês | MEDLINE | ID: mdl-33678523

2.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A; Kayserili, Hülya; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G; Mihci, Ercan; Moreira, Lilia M A; Borges Ferreira, Viviane; Horovitz, Dafne D G; da Rocha, Katia M; Jezela-Stanek, Aleksandra; Brooks, Alice S; Reutter, Heiko; Cohen, Julie S; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A; Di Donato, Nataliya; Deshpande, Charu; Vandersteen, Anthony; Marques Lourenço, Charles; Dufke, Andreas; Rossier, Eva; Andre, Gwenaelle; Baumer, Alessandra; Spencer, Careni; McGaughran, Julie; Franke, Lude; Veltman, Joris A; De Vries, Bert B A; Schinzel, Albert; Fisher, Simon E; Hoischen, Alexander; van Bon, Bregje W.

PLoS Genet ; 13(3): e1006683, 2017 03.

Artigo em Inglês | MEDLINE | ID: mdl-28346496

3.

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.

Taylor, Madeleine; Khan, Shaukat; Stapleton, Molly; Wang, Jianmin; Chen, Jing; Wynn, Robert; Yabe, Hiromasa; Chinen, Yasutsugu; Boelens, Jaap Jan; Mason, Robert W; Kubaski, Francyne; Horovitz, Dafne D G; Barth, Anneliese L; Serafini, Marta; Bernardo, Maria Ester; Kobayashi, Hironori; Orii, Kenji E; Suzuki, Yasuyuki; Orii, Tadao; Tomatsu, Shunji.

Biol Blood Marrow Transplant ; 25(7): e226-e246, 2019 07.

Artigo em Inglês | MEDLINE | ID: mdl-30772512

4.

Practical management of behavioral problems in mucopolysaccharidoses disorders.

Escolar, Maria L; Jones, Simon A; Shapiro, Elsa G; Horovitz, Dafne D G; Lampe, Christina; Amartino, Hernán.

Mol Genet Metab ; 122S: 35-40, 2017 12.

Artigo em Inglês | MEDLINE | ID: mdl-29170079

5.

The phenotypic spectrum of congenital Zika syndrome.

Del Campo, Miguel; Feitosa, Ian M L; Ribeiro, Erlane M; Horovitz, Dafne D G; Pessoa, André L S; França, Giovanny V A; García-Alix, Alfredo; Doriqui, Maria J R; Wanderley, Hector Y C; Sanseverino, Maria V T; Neri, João I C F; Pina-Neto, João M; Santos, Emerson S; Verçosa, Islane; Cernach, Mirlene C S P; Medeiros, Paula F V; Kerbage, Saile C; Silva, André A; van der Linden, Vanessa; Martelli, Celina M T; Cordeiro, Marli T; Dhalia, Rafael; Vianna, Fernanda S L; Victora, Cesar G; Cavalcanti, Denise P; Schuler-Faccini, Lavinia.

Am J Med Genet A ; 173(4): 841-857, 2017 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-28328129

6.

Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.

Schuler-Faccini, Lavinia; Ribeiro, Erlane M; Feitosa, Ian M L; Horovitz, Dafne D G; Cavalcanti, Denise P; Pessoa, André; Doriqui, Maria Juliana R; Neri, Joao Ivanildo; Neto, Joao Monteiro de Pina; Wanderley, Hector Y C; Cernach, Mirlene; El-Husny, Antonette S; Pone, Marcos V S; Serao, Cassio L C; Sanseverino, Maria Teresa V.

MMWR Morb Mortal Wkly Rep ; 65(3): 59-62, 2016 Jan 29.

Artigo em Inglês | MEDLINE | ID: mdl-26820244

7.

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio-Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D G; de Souza, Carolina Fischinger Moura; Schwartz, Ida V D; Green, Andrew; Al-Owain, Mohammed; Uziel, Graciella; Sigaudy, Sabine; Chabrol, Brigitte; van Spronsen, Franc-Jan; Steinert, Martin; Komini, Eleni; Wurm, Donald; Bevot, Andrea; Ayadi, Addelkarim; Huijben, Karin; Dercksen, Marli; Witters, Peter; Jaeken, Jaak; Matthijs, Gert; Lefeber, Dirk J; Wevers, Ron A.

J Inherit Metab Dis ; 39(5): 713-723, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27287710

8.

Perthes-Like Disease Masquerading Non-Classical MPS

Souza, Carolina F.M.; Siqueira, Ana Cecília; Antunes, Natália S.; Horovitz, Dafne D.G.; Politei, Juan; Lourenço, Charles M.; Doriqui, Maria Juliana Rodovalho; Souza, Débora Lima; Galera, Marcial Francis; Abrahão, Leonardo Cury; Matos, Marcos Almeida; Mendes, Pedro Henrique Barros; Magalhães, Tatiana S.P.C.

J. inborn errors metab. screen ; 8: e20200003, 2020. tab, graf

Artigo em Inglês | LILACS-Express | ID: biblio-1135001

9.

Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.

Horovitz, Dafne D G; Magalhães, Tatiana S P C; Acosta, Angelina; Ribeiro, Erlane M; Giuliani, Liane R; Palhares, Durval B; Kim, Chong A; de Paula, Ana Carolina; Kerstenestzy, Marcelo; Pianovski, Mara A D; Costa, Maria Ione F; Santos, Francisca C; Martins, Ana Maria; Aranda, Carolina S; Correa Neto, Jordão; Holanda, Gervina Brady Moreira; Cardoso, Laércio; da Silva, Carlos A B; Bonatti, Renata C F; Ribeiro, Bethania F R; Rodrigues, Maria do Carmo S; Llerena, Juan C.

Mol Genet Metab ; 109(1): 62-9, 2013 May.

Artigo em Inglês | MEDLINE | ID: mdl-23535281

10.

Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II: A Literature Review and Critical Analysis

Barth, Anneliese L.; Horovitz, Dafne D. G..

J. inborn errors metab. screen ; 6: e180008, 2018. tab, graf

Artigo em Inglês | LILACS-Express | ID: biblio-1090963

11.

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

Itzkovitz, Brandon; Jiralerspong, Sarn; Nimmo, Graeme; Loscalzo, Melissa; Horovitz, Dafne D G; Snowden, Ann; Moser, Ann; Steinberg, Steve; Braverman, Nancy.

Hum Mutat ; 33(1): 189-97, 2012 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-21990100

12.

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.

Solanki, Guirish A; Alden, Tord D; Burton, Barbara K; Giugliani, Roberto; Horovitz, Dafne D G; Jones, Simon A; Lampe, Christina; Martin, Kenneth W; Ryan, Maura E; Schaefer, Matthias K; Siddiqui, Aisha; White, Klane K; Harmatz, Paul.

Mol Genet Metab ; 107(1-2): 15-24, 2012 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-22938833

13.

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio-Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D G; de Souza, Carolina Fischinger Moura; Schwartz, Ida V D; Green, Andrew; Al-Owain, Mohammed; Uziel, Graciella; Sigaudy, Sabine; Chabrol, Brigitte; van Spronsen, Franc-Jan; Steinert, Martin; Komini, Eleni; Wurm, Donald; Bevot, Andrea; Ayadi, Addelkarim; Huijben, Karin; Dercksen, Marli; Witters, Peter; Jaeken, Jaak; Matthijs, Gert; Lefeber, Dirk J; Wevers, Ron A.

J Inherit Metab Dis ; 39(5): 759, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27498540

14.

Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America.

Solano, MarthaL; Fainboim, Alejandro; Politei, Juan; Porras-Hurtado, Gloria L; Martins, Ana Maria; Souza, Carolina F Moura; Koch, Felipe Mendez; Amartino, Hernan; Satizábal, Jose Maria; Horovitz, Dafne D G; Medeiros, Paula F V; Honjo, Rachel S; Lourenço, Charles M.

Mol Genet Metab Rep ; 23: 100572, 2020 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-32140416

15.

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.

Gomes, Maria E S; Kanazawa, Thatiane Y; Riba, Fernanda R; Pereira, Natálya G; Zuma, Maria C C; Rabelo, Natana C; Sanseverino, Maria T; Horovitz, Dafne D G; Llerena, Juan C; Cavalcanti, Denise P; Gonzalez, Sayonara.

Mol Syndromol ; 9(2): 92-99, 2018 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-29593476

16.

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.

Barth, Anneliese L; de Magalhães, Tatiana S P C; Reis, Ana Beatriz R; de Oliveira, Maria Lucia; Scalco, Fernanda B; Cavalcanti, Nicolette C; Silva, Daniel S E; Torres, Danielle A; Costa, Alessandra A P; Bonfim, Carmem; Giugliani, Roberto; Llerena, Juan C; Horovitz, Dafne D G.

Mol Genet Metab Rep ; 12: 62-68, 2017 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-28649514

17.

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.

Gennarino, Vincenzo A; Alcott, Callison E; Chen, Chun-An; Chaudhury, Arindam; Gillentine, Madelyn A; Rosenfeld, Jill A; Parikh, Sumit; Wheless, James W; Roeder, Elizabeth R; Horovitz, Dafne D G; Roney, Erin K; Smith, Janice L; Cheung, Sau W; Li, Wei; Neilson, Joel R; Schaaf, Christian P; Zoghbi, Huda Y.

Elife ; 42015 Aug 27.

Artigo em Inglês | MEDLINE | ID: mdl-26312503

18.

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

Lampe, Christina; Atherton, Andrea; Burton, Barbara K; Descartes, Maria; Giugliani, Roberto; Horovitz, Dafne D G; Kyosen, Sandra O; Magalhães, Tatiana S P C; Martins, Ana Maria; Mendelsohn, Nancy J; Muenzer, Joseph; Smith, Laurie D.

JIMD Rep ; 14: 99-113, 2014.

Artigo em Inglês | MEDLINE | ID: mdl-24515576

19.

Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children.

Horovitz, Dafne D G; Acosta, Angelina Xavier; de Rosso Giuliani, Liane; Ribeiro, Erlane Marques.

Mol Genet Metab Rep ; 5: 19-25, 2015 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-28649537

Portal de Pesquisa da BVS

Informação e Conhecimento para a Saúde

Configurar filtros

Sua seleção (0)

Formato de exportação:

Exportar: