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Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63835
By:
- Herbster, Jack;
- Prada, Carlos E.;
- Rasmussen, Carly A.;
- Quadri, Allegra;
- Kuritza, Victoria;
- Viglione, Michael;
- Hoyer, Sheryl
Publication type:
Article
Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.
Published in:
2024
By:
- Ali, Syed M.;
- AlMasri, Dua A.;
- Prada, Carlos E.;
- Lin, Doris;
- Bosley, Thomas M.;
- Kozak, Igor
Publication type:
Case Study
Arrhythmia Burden and Heart Rate Response During Exercise in Anderson-Fabry Disease.
Published in:
Texas Heart Institute Journal, 2022, v. 49, n. 5, p. 1, doi. 10.14503/THIJ-20-7363
By:
- Powell, Adam W.;
- Wittekind, Samuel G.;
- Mays, Wayne A.;
- Lang, Sean M.;
- Knilans, Timothy K.;
- Prada, Carlos E.;
- Hopkin, Robert J.;
- Chin, Clifford
Publication type:
Article
Widespread Vasculopathy in a Patient with Morquio A Syndrome.
Published in:
2017
By:
- Powell, Adam W.;
- Taylor, Michael D.;
- Burrow, T. Andrew;
- Hopkin, Robert J.;
- Prada, Carlos E.;
- Jefferies, John L.
Publication type:
Case Study
Introduction to the special issue on Clinical Genetics in Latin America.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 873, doi. 10.1002/ajmg.c.31875
By:
- Prada, Carlos E.;
- Cavalcanti, Denise;
- Schwartz, Ida Vanessa Doederlein;
- Zarate, Yuri A.
Publication type:
Article
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1052, doi. 10.1002/ajmg.c.31870
By:
- Abell, Katherine;
- Chadwell, Sarah E.;
- Burrow, Thomas Andrew;
- Becker, Ana Paula Pizzio;
- Bailey, Laurie;
- Steele, Paul;
- Zhang, Xue;
- Islas‐Ohlmayer, Miguel;
- Bittencourt, Rosane;
- Schwartz, Ida Vanessa Doederlein;
- Prada, Carlos E.
Publication type:
Article
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1042, doi. 10.1002/ajmg.c.31869
By:
- Lores, Juliana;
- Prada, Carlos E.;
- Ramírez‐Montaño, Diana;
- Nastasi‐Catanese, José A.;
- Pachajoa, Harry
Publication type:
Article
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 996, doi. 10.1002/ajmg.c.31859
By:
- Mena, Rafael;
- Mendoza, Esperanza;
- Gomez Peña, Maria;
- Valencia, C. Alexander;
- Ullah, Ehsan;
- Hufnagel, Robert B.;
- Prada, Carlos E.
Publication type:
Article
Ophthalmic genetics in South America.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 753, doi. 10.1002/ajmg.c.31832
By:
- Daich Varela, Malena;
- Moya, Rene;
- Schlottmann, Patricio G.;
- Hufnagel, Robert B.;
- Arberas, Claudia;
- Fernández, Federico M.;
- Inga, M. Eugenia;
- Lores, Juliana;
- Pachajoa, Harry;
- Prada, Carlos E.;
- Sallum, Juliana M. Ferraz
Publication type:
Article
Dandy–Walker malformation in an individual with ABL1 variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63718
By:
- Garzon, Jenny P.;
- Pardo, Andrea C.;
- Raski, Carolyn R.;
- Prada, Carlos E.
Publication type:
Article
Aminotransferase trends in propionic acidemia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63659
By:
- Silva, Maria P.;
- Raski, Carolyn R.;
- Charrow, Joel;
- Baker, Joshua J.;
- Prada, Carlos E.
Publication type:
Article
Homozygosity for disease‐causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63622
By:
- Drackley, Andy;
- Peter, Merlene;
- Rathbun, Pamela;
- Ing, Alexander;
- Prada, Carlos E.;
- Yap, Kai Lee
Publication type:
Article
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 195, doi. 10.1002/ajmg.a.63397
By:
- Serbinski, Carolyn R.;
- Vanderwal, April;
- Chadwell, Sarah E.;
- Sanchez, Ana Isabel;
- Hopkin, Robert J.;
- Hufnagel, Robert B.;
- Weaver, K. Nicole;
- Prada, Carlos E.
Publication type:
Article
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3262, doi. 10.1002/ajmg.a.62946
By:
- Baker, Elizabeth K.;
- Solivio, Beulah;
- Pode‐Shakked, Ben;
- Cross, Laura Ann;
- Sullivan, Bonnie;
- Raas‐Rothschild, Annick;
- Chorin, Odelia;
- Barel, Ortal;
- Bar‐Yosef, Omer;
- Husami, Ammar;
- Hopkin, Robert J.;
- Prada, Carlos E.;
- Stottmann, Rolf W.;
- Weaver, Kathryn Nicole
Publication type:
Article
Craniosynostosis is a feature of Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1280, doi. 10.1002/ajmg.a.62620
By:
- Weaver, K. Nicole;
- Care, Marguerite;
- Wakefield, Emily;
- Zarate, Yuri A.;
- Skoch, Jesse;
- Gripp, Karen W.;
- Prada, Carlos E.
Publication type:
Article
Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1525, doi. 10.1002/ajmg.a.62120
By:
- Silva‐Sánchez, María P.;
- Alvarado‐Socarras, Jorge L.;
- Castro‐Monsalve, Javier;
- Meneses, Keyla Milena;
- Santiago, Justo;
- Prada, Carlos E.
Publication type:
Article
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 909, doi. 10.1002/ajmg.a.62031
By:
- Clarkston, Kathryn;
- Lee, Joy;
- Donoghue, Sarah;
- Peters, Heidi;
- Eiroa, Hernan;
- Shah, Amit A.;
- Loomes, Kathleen;
- Wen, Jessica;
- Oliver, Mark;
- Hardikar, Winita;
- Prada, Carlos E.;
- Asai, Akihiro
Publication type:
Article
Novel progressive acrodysostosis‐like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2214, doi. 10.1002/ajmg.a.61782
By:
- Velasco, Harvy M.;
- Ullah, Ehsan;
- Martin, Angela M.;
- Hufnagel, Robert B.;
- Prada, Carlos E.
Publication type:
Article
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 608, doi. 10.1002/ajmg.a.61072
By:
- Aljeaid, Deema;
- Sanchez, Ana Isabel;
- Wakefield, Emily;
- Chadwell, Sarah E.;
- Moore, Nicole;
- Prada, Carlos E.;
- Zhang, Wenying
Publication type:
Article
Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 602, doi. 10.1002/ajmg.a.61069
By:
- Kongkriangkai, Alanna M.;
- King, Christopher;
- Martin, Lisa J.;
- Wakefield, Emily;
- Prada, Carlos E.;
- Kelly‐Mancuso, Geraldine;
- Schorry, Elizabeth K.
Publication type:
Article
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2814, doi. 10.1002/ajmg.a.38404
By:
- Helm, Benjamin M.;
- Powis, Zoe;
- Prada, Carlos E.;
- Casasbuenas‐Alarcon, Olga L.;
- Balmakund, Tonya;
- Schaefer, G. B.;
- Kahler, Stephen G.;
- Kaylor, Julie;
- Winter, Susan;
- Zarate, Yuri A.;
- Schrier Vergano, Samantha A.
Publication type:
Article
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Published in:
Nature Genetics, 2015, v. 47, n. 8, p. 926, doi. 10.1038/ng.3354
By:
- Abrams, Alexander J;
- Ahmed, Zubair M;
- Antonellis, Anthony;
- Zimmerman, Holly H;
- Abdul-Rahman, Omar A;
- Yang, Yaping;
- Downes, Susan M;
- Fontanesi, Flavia;
- Barrientos, Antonio;
- Németh, Andrea H;
- Hufnagel, Robert B;
- Sund, Kristen L;
- Wang, Xinjian;
- Krueger, Laura A;
- Peng, Yanyan;
- Prada, Carlos E;
- Prows, Cynthia A;
- Schorry, Elizabeth K;
- Huang, Taosheng;
- Rebelo, Adriana
Publication type:
Article
International Pediatric Multidisciplinary Management Using Telemedicine to Promote Equitable Care.
Published in:
Telemedicine & e-Health, 2023, v. 29, n. 5, p. 674, doi. 10.1089/tmj.2022.0165
By:
- Mena, Rafael;
- Mendoza, Esperanza;
- Mangano, Francesco T.;
- Henrickson, Michael;
- Scott, Michael;
- DeFoor, William R.;
- Little, Kevin J.;
- Ruschman, Jennifer;
- Prada, Carlos E.
Publication type:
Article
Complete Blood Count Values Over Time in Young Children During the Dengue Virus Epidemic in the Dominican Republic From 2018 to 2020.
Published in:
BioMed Research International, 2024, v. 2024, p. 1, doi. 10.1155/2024/3716786
By:
- Day, Melissa E.;
- Puello, Yonairy Collado;
- Mejía Sang, Miguel E.;
- Diaz Brockmans, Elvira J.;
- Díaz Soto, María F.;
- Rivera Defilló, Stephanie M.;
- Taveras Cruz, Karla M.;
- Santiago Pérez, Javier O.;
- Meña, Rafael;
- Mota, Cesár;
- Hostetter, Margaret K.;
- Muglia, Louis J.;
- del Rey, Javier Gonzalez;
- Schlaudecker, Elizabeth P.;
- Martin, Lisa J.;
- Simpson, Brittany N.;
- Prada, Carlos E.;
- Pabelick, Christina
Publication type:
Article
Endothelial dysfunction and preeclampsia: role of oxidative stress.
Published in:
Frontiers in Physiology, 2014, v. 5, p. 1, doi. 10.3389/fphys.2014.00372
By:
- Sánchez-Aranguren, Lissette C.;
- Prada, Carlos E.;
- Riaño-Medina, Carlos E.;
- Lopez, Marcos
Publication type:
Article
Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart Disease.
Published in:
Pediatric Cardiology, 2024, v. 45, n. 1, p. 55, doi. 10.1007/s00246-023-03308-5
By:
- Alvarado, Jorge L.;
- Bermon, Anderson;
- Florez, Claudia;
- Castro, Javier;
- Cruz, Monica;
- Franco, Helena;
- Martinez, Camilo;
- Villegas, Kathy;
- Shabbir, Nisha;
- Weisman, Allison Goetsch;
- Weaver, Kathryn N.;
- Prada, Carlos E.
Publication type:
Article
The 2019–2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children.
Published in:
Journal of the Pediatric Infectious Diseases Society, 2023, v. 12, n. 3, p. 169, doi. 10.1093/jpids/piac136
By:
- Simpson, Brittany N;
- Sang, Miguel E Mejía;
- Puello, Yonairy Collado;
- Brockmans, Elvira J Diaz;
- Soto, María F Díaz;
- Defilló, Stephanie M Rivera;
- Cruz, Karla M Taveras;
- Pérez, Javier O Santiago;
- Husami, Ammar;
- Day, Melissa E;
- Pilipenko, Valentina;
- Mena, Rafael;
- Mota, Cesár;
- Hostetter, Margaret K;
- Muglia, Louis J;
- Schlaudecker, Elizabeth;
- Rey, Javier Gonzalez del;
- Martin, Lisa J;
- Prada, Carlos E
Publication type:
Article
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.
Published in:
Rheumatology, 2010, v. 49, n. 6, p. 1056, doi. 10.1093/rheumatology/keq048
By:
- Diggle, Christine P.;
- Carr, Ian M.;
- Zitt, Emanuel;
- Wusik, Katie;
- Hopkin, Robert J.;
- Prada, Carlos E.;
- Calabrese, Olga;
- Rittinger, Olaf;
- Punaro, Marilynn G.;
- Markham, Alexander F.;
- Bonthron, David T.
Publication type:
Article
Bridas duodenales y reflujo gastroesofágico en neonatos y lactantes. Tratamiento laparoscópico.
Published in:
Gaceta Médica de Caracas, 2021, v. 129, n. 1, p. 39, doi. 10.47307/GMC.2021.129.1.6
By:
- Peña, Adriana C.;
- Prada, Carlos E.;
- Briceño-Iragorry, Leopoldo;
- Muñoz, Gloria S.;
- Gonzalez, Ileana;
- González C., Miguel
Publication type:
Article
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 5, p. 877, doi. 10.1093/hmg/ddz173
By:
- Cheng, Hanyin;
- Gottlieb, Leah;
- Marchi, Elaine;
- Kleyner, Robert;
- Bhardwaj, Puja;
- Rope, Alan F;
- Rosenheck, Sarah;
- Moutton, Sébastien;
- Philippe, Christophe;
- Eyaid, Wafaa;
- Alkuraya, Fowzan S;
- Toribio, Janet;
- Mena, Rafael;
- Prada, Carlos E;
- Stessman, Holly;
- Bernier, Raphael;
- Wermuth, Marieke;
- Kauffmann, Birgit;
- Blaumeiser, Bettina;
- Kooy, R Frank
Publication type:
Article
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 17, p. 2900, doi. 10.1093/hmg/ddz111
By:
- Cheng, Hanyin;
- Gottlieb, Leah;
- Marchi, Elaine;
- Kleyner, Robert;
- Bhardwaj, Puja;
- Rope, Alan F;
- Rosenheck, Sarah;
- Moutton, Sébastien;
- Philippe, Christophe;
- Eyaid, Wafaa;
- Alkuraya, Fowzan S;
- Toribio, Janet;
- Mena, Rafael;
- Prada, Carlos E;
- Stessman, Holly;
- Bernier, Raphael;
- Wermuth, Marieke;
- Kauffmann, Birgit;
- Blaumeiser, Bettina;
- Kooy, R Frank
Publication type:
Article
Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition.
Published in:
Acta Neuropathologica, 2013, v. 125, n. 1, p. 159, doi. 10.1007/s00401-012-1056-7
By:
- Prada, Carlos E.;
- Jousma, Edwin;
- Rizvi, Tilat A.;
- Jianqiang Wu;
- Dunn, R. Scott;
- Mayes, Debra A.;
- Cancelas, Jose A.;
- Dombi, Eva;
- Mi-Ok Kim;
- West, Brian L.;
- Bollag, Gideon;
- Ratner, Nancy
Publication type:
Article
Lethal presentation of neurofibromatosis and Noonan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1360, doi. 10.1002/ajmg.a.33996
By:
- Prada, Carlos E.;
- Zarate, Yuri A.;
- Hagenbuch, Sean;
- Lovell, Anne;
- Schorry, Elizabeth K.;
- Hopkin, Robert J.
Publication type:
Article
Early Spinal Cord and Brainstem Involvement in Infantile Leigh Syndrome Possibly Caused by a Novel Variant.
Published in:
Journal of Child Neurology, 2013, v. 28, n. 12, p. 1681, doi. 10.1177/0883073812464273
By:
- Tenney, Jeffrey R.;
- Prada, Carlos E.;
- Hopkin, Robert J.;
- Hallinan, Barbara E.
Publication type:
Article
Severe cervical scoliosis in the fetus.
Published in:
Prenatal Diagnosis, 2011, v. 31, n. 12, p. 1198, doi. 10.1002/pd.2898
By:
- Prada, Carlos E.;
- Sellars, Elizabeth A.;
- Spaeth, Christine G.;
- Kline-Fath, Beth M.;
- Crombleholme, Timothy M.;
- Hopkin, Robert J.
Publication type:
Article
Globus pallidus involvement as initial presentation of methylmalonic acidemia.
Published in:
Movement Disorders, 2014, v. 29, n. 7, p. 870, doi. 10.1002/mds.25890
By:
- Prada, Carlos E.;
- Villamizar‐Schiller, Ives T.
Publication type:
Article
Globus Pallidus Involvement as Initial Presentation of Methylmalonic Acidemia.
Published in:
Movement Disorders, 2014, v. 29, p. 870, doi. 10.1002/mds.25890
By:
- Prada, Carlos E.;
- Villamizar-Schiller, Ives T.
Publication type:
Article

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