Pesquisa | Biblioteca Virtual em Saúde

1.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino, Vincenzo A; Palmer, Elizabeth E; McDonell, Laura M; Wang, Li; Adamski, Carolyn J; Koire, Amanda; See, Lauren; Chen, Chun-An; Schaaf, Christian P; Rosenfeld, Jill A; Panzer, Jessica A; Moog, Ute; Hao, Shuang; Bye, Ann; Kirk, Edwin P; Stankiewicz, Pawel; Breman, Amy M; McBride, Arran; Kandula, Tejaswi; Dubbs, Holly A; Macintosh, Rebecca; Cardamone, Michael; Zhu, Ying; Ying, Kevin; Dias, Kerith-Rae; Cho, Megan T; Henderson, Lindsay B; Baskin, Berivan; Morris, Paula; Tao, Jiang; Cowley, Mark J; Dinger, Marcel E; Roscioli, Tony; Caluseriu, Oana; Suchowersky, Oksana; Sachdev, Rani K; Lichtarge, Olivier; Tang, Jianrong; Boycott, Kym M; Holder, J Lloyd; Zoghbi, Huda Y.

Cell; 172(5): 924-936.e11, 2018 Feb 22.

Artigo em Inglês | MEDLINE | ID: mdl-29474920

2.

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.

Chen, Chun-An; Wang, Wei; Pedersen, Steen E; Raman, Ayush; Seymour, Michelle L; Ruiz, Fernanda R; Xia, Anping; van der Heijden, Meike E; Wang, Li; Yin, Jiani; Lopez, Joanna; Rech, Megan E; Lewis, Richard A; Wu, Samuel M; Liu, Zhandong; Pereira, Fred A; Pautler, Robia G; Zoghbi, Huda Y; Schaaf, Christian P.

Hum Mol Genet; 2019 Oct 10.

Artigo em Inglês | MEDLINE | ID: mdl-31600777

3.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Tokita, Mari J; Chen, Chun-An; Chitayat, David; Macnamara, Ellen; Rosenfeld, Jill A; Hanchard, Neil; Lewis, Andrea M; Brown, Chester W; Marom, Ronit; Shao, Yunru; Novacic, Danica; Wolfe, Lynne; Wahl, Colleen; Tifft, Cynthia J; Toro, Camilo; Bernstein, Jonathan A; Hale, Caitlin L; Silver, Julia; Hudgins, Louanne; Ananth, Amitha; Hanson-Kahn, Andrea; Shuster, Shirley; Magoulas, Pilar L; Patel, Vipulkumar N; Zhu, Wenmiao; Chen, Stella M; Jiang, Yanjun; Liu, Pengfei; Eng, Christine M; Batkovskyte, Dominyka; di Ronza, Alberto; Sardiello, Marco; Lee, Brendan H; Schaaf, Christian P; Yang, Yaping; Wang, Xia.

Am J Hum Genet; 103(1): 154-162, 2018 Jul 05.

Artigo em Inglês | MEDLINE | ID: mdl-29961569

4.

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.

Gu, Shen; Chen, Chun-An; Rosenfeld, Jill A; Cope, Heidi; Launay, Nathalie; Flanigan, Kevin M; Waldrop, Megan A; Schrader, Rachel; Juusola, Jane; Goker-Alpan, Ozlem; Milunsky, Aubrey; Schlüter, Agatha; Troncoso, Mónica; Pujol, Aurora; Tan, Queenie K-G; Schaaf, Christian P; Meng, Linyan.

Hum Mutat; 2019 Nov 07.

Artigo em Inglês | MEDLINE | ID: mdl-31696996

5.

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.

McCarthy, John M; McCann-Crosby, Bonnie M; Rech, Megan E; Yin, Jiani; Chen, Chun-An; Ali, May A; Nguyen, HaiThuy N; Miller, Jennifer L; Schaaf, Christian P.

J Med Genet; 55(5): 307-315, 2018 May.

Artigo em Inglês | MEDLINE | ID: mdl-29496979

6.

Improved Left Ventricular Strain and Dyssynchrony After Pulmonary Artery Banding in an Infant with End-Stage Dilated Cardiomyopathy: Insights from Three-Dimensional Speckle Tracking.

Liu, Yu-Hsuan; Chen, Yih-Sharng; Lin, Ming-Tai; Chen, Chun-An.

Pediatr Cardiol; 40(6): 1317-1319, 2019 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-31240369

7.

Efficacy of a Novel Palivizumab Prophylaxis Protocol for Respiratory Syncytial Virus Infection in Congenital Heart Disease: A Multicenter Study.

Chiu, Shuenn-Nan; Wang, Jieh-Neng; Fu, Yun-Ching; Chung, Hung-Tao; Chang, Ling-Yin; Wu, Mei-Hwan; Hua, Yu-Chuan; Lin, Ming-Tai; Lu, Chun-Wei; Chen, Chun-An; Wu, Jing-Ming; Wang, Jou-Kou.

J Pediatr; 195: 108-114.e1, 2018 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-29395174

8.

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

Martín-Hernández, Elena; Rodríguez-García, María Elena; Chen, Chun-An; Cotrina-Vinagre, Francisco Javier; Carnicero-Rodríguez, Patricia; Bellusci, Marcello; Schaaf, Christian P; Martínez-Azorín, Francisco.

J Hum Genet; 63(4): 525-528, 2018 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-29410510

9.

Genetic causes of optic nerve hypoplasia.

Chen, Chun-An; Yin, Jiani; Lewis, Richard Alan; Schaaf, Christian P.

J Med Genet; 54(7): 441-449, 2017 07.

Artigo em Inglês | MEDLINE | ID: mdl-28501829

10.

Study on ECG in the Adolescent.

Lue, Hung-Chi; Wu, Mei-Hwan; Wang, Jou-Kou; Lin, Min-Tai; Lu, Chun-Wei; Chiu, Shuenn-Nan; Chen, Chun-An; Wu, En-Ting; Wang, Ching-Chia; Fu, Chun-Min; Tseng, Wei-Chien; Chang, Wei-Hsuan; Lee, Meng-Chang.

Pediatr Cardiol; 39(5): 911-923, 2018 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-29556784

11.

NR2F1 mutations cause optic atrophy with intellectual disability.

Bosch, Daniëlle G M; Boonstra, F Nienke; Gonzaga-Jauregui, Claudia; Xu, Mafei; de Ligt, Joep; Jhangiani, Shalini; Wiszniewski, Wojciech; Muzny, Donna M; Yntema, Helger G; Pfundt, Rolph; Vissers, Lisenka E L M; Spruijt, Liesbeth; Blokland, Ellen A W; Chen, Chun-An; Lewis, Richard A; Tsai, Sophia Y; Gibbs, Richard A; Tsai, Ming-Jer; Lupski, James R; Zoghbi, Huda Y; Cremers, Frans P M; de Vries, Bert B A; Schaaf, Christian P.

Am J Hum Genet; 94(2): 303-9, 2014 Feb 06.

Artigo em Inglês | MEDLINE | ID: mdl-24462372

12.

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen, Chun-An; Bosch, Daniëlle G M; Cho ScM, Megan T; Rosenfeld, Jill A; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G; Elmslie, Frances; Douglas, Ganka; Boonstra, F Nienke; Millan, Francisca; Cremers, Frans P M; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K; Niyazov, Dmitriy; Pascual, Juan M; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M; de Vries, Bert B A; Schaaf, Christian.

Genet Med; 19(8): 962, 2017 08.

Artigo em Inglês | MEDLINE | ID: mdl-28777376

13.

Mid-to-long-term follow-up results of transcatheter closure of atrial septal defect in patients older than 40 years.

Wang, Jou-Kou; Chiu, Shuenn-Nan; Lin, Ming-Tai; Chen, Chun-An; Lu, Chun-Wei; Wu, Mei-Hwan.

Heart Vessels; 32(4): 467-473, 2017 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-27531005

14.

Assessing utility of exercise test in determining exercise prescription in adolescent and adult patients with repaired tetralogy of fallot.

Yang, Ming-Chun; Chen, Chun-An; Chiu, Hsin-Hui; Wang, Jou-Kou; Lin, Ming-Tai; Chiu, Shuenn-Nan; Lu, Chun-Wei; Huang, Shu-Chien; Wu, Mei-Hwan.

Heart Vessels; 32(2): 201-207, 2017 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-27272896

15.

Risk factors and implications of progressive coronary dilatation in children with Kawasaki disease.

Liu, Ming-Yu; Liu, Hsin-Min; Wu, Chia-Hui; Chang, Chin-Hao; Huang, Guan-Jr; Chen, Chun-An; Chiu, Shuenn-Nan; Lu, Chun-Wei; Lin, Ming-Tai; Chang, Luan-Yin; Wang, Jou-Kou; Wu, Mei-Hwan.

BMC Pediatr; 17(1): 139, 2017 Jun 06.

Artigo em Inglês | MEDLINE | ID: mdl-28587647

16.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen, Chun-An; Bosch, Daniëlle G M; Cho, Megan T; Rosenfeld, Jill A; Shinawi, Marwan; Lewis, Richard Alan; Mann, John; Jayakar, Parul; Payne, Katelyn; Walsh, Laurence; Moss, Timothy; Schreiber, Allison; Schoonveld, Cheri; Monaghan, Kristin G; Elmslie, Frances; Douglas, Ganka; Boonstra, F Nienke; Millan, Francisca; Cremers, Frans P M; McKnight, Dianalee; Richard, Gabriele; Juusola, Jane; Kendall, Fran; Ramsey, Keri; Anyane-Yeboa, Kwame; Malkin, Elfrida; Chung, Wendy K; Niyazov, Dmitriy; Pascual, Juan M; Walkiewicz, Magdalena; Veluchamy, Vivekanand; Li, Chumei; Hisama, Fuki M; de Vries, Bert B A; Schaaf, Christian.

Genet Med; 18(11): 1143-1150, 2016 11.

Artigo em Inglês | MEDLINE | ID: mdl-26986877

17.

S-glutathionylation uncouples eNOS and regulates its cellular and vascular function.

Chen, Chun-An; Wang, Tse-Yao; Varadharaj, Saradhadevi; Reyes, Levy A; Hemann, Craig; Talukder, M A Hassan; Chen, Yeong-Renn; Druhan, Lawrence J; Zweier, Jay L.

Nature; 468(7327): 1115-8, 2010 Dec 23.

Artigo em Inglês | MEDLINE | ID: mdl-21179168

18.

Risk factors and derived formosa score for intravenous immunoglobulin unresponsiveness in Taiwanese children with Kawasaki disease.

Lin, Ming-Tai; Chang, Chin-Hao; Sun, Li-Chuan; Liu, Hsin-Min; Chang, Huei-Wen; Chen, Chun-An; Chiu, Shuenn-Nan; Lu, Chun-Wei; Chang, Luan-Yin; Wang, Jou-Kou; Wu, Mei-Hwan.

J Formos Med Assoc; 115(5): 350-5, 2016 May.

Artigo em Inglês | MEDLINE | ID: mdl-25910931

19.

Paradoxical Hypertension after Successful Cheatham Platinum Stent Implantation in an Adolescent with Coarctation of the Aorta.

Tan, Yin Ling; Chih, Wan-Ling; Wang, Jou-Kou; Chen, Chun-An.

Acta Cardiol Sin; 32(6): 755-757, 2016 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-27899866

20.

Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.

Chien, Yin-Hsiu; Lee, Ni-Chung; Chen, Chun-An; Tsai, Fuu-Jen; Tsai, Wen-Hui; Shieh, Jeng-Yi; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Hwu, Wuh-Liang.

J Pediatr; 166(4): 985-91.e1-2, 2015 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-25466677

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