Publications by authors named "Carlos E Prada"

42Publications

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.

Eur J Hum Genet 2020 Sep 24. Epub 2020 Sep 24.

Department of Biomedicine, University of Bergen, N-5020, Bergen, Norway.

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http://dx.doi.org/10.1038/s41431-020-00728-2DOI Listing
September 2020

Ophthalmic genetics in South America.

Am J Med Genet C Semin Med Genet 2020 09 28;184(3):753-761. Epub 2020 Aug 28.

Department of Ophthalmology, Universidade Federal de São Paulo, Sao Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.c.31832DOI Listing
September 2020

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.

Am J Med Genet A 2020 Oct 11;182(10):2214-2221. Epub 2020 Aug 11.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.61782DOI Listing
October 2020

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.

Neuron 2020 05 12;106(4):589-606.e6. Epub 2020 Mar 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2020.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289150PMC
May 2020

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.

Am J Med Genet A 2019 04 14;179(4):608-614. Epub 2019 Feb 14.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.61072DOI Listing
April 2019

Vitamin D deficiency and pre-eclampsia in Colombia: PREVitD study.

Pregnancy Hypertens 2018 Oct 14;14:240-244. Epub 2018 Mar 14.

Fundación Cardiovascular de Colombia FCV, Colombia; Fundación Universitaria FCV, Colombia; Department of Pediatrics, University of Cincinnati, College of Medicine, Cincinnati, OH, United States; Division of Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.preghy.2018.03.006DOI Listing
October 2018

Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.

Mol Genet Metab 2018 03 5;123(3):357-363. Epub 2018 Jan 5.

Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.10.013DOI Listing
March 2018

Cardiac Rhabdomyomas in Tuberous Sclerosis Complex.

J Pediatr 2018 01 8;192:264-264.e1. Epub 2017 Nov 8.

Fundación Cardiovascular de Colombia Hospital Internacional de Colombia Floridablanca, Colombia; Division of Human Genetics Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati, Ohio.

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http://dx.doi.org/10.1016/j.jpeds.2017.09.050DOI Listing
January 2018

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Am J Med Genet A 2017 Oct 17;173(10):2814-2820. Epub 2017 Aug 17.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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http://doi.wiley.com/10.1002/ajmg.a.38404
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http://dx.doi.org/10.1002/ajmg.a.38404DOI Listing
October 2017

A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response.

Analyst 2017 Sep;142(18):3380-3387

Department of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1039/c7an00938kDOI Listing
September 2017

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

J Pediatr 2015 Oct 29;167(4):851-856.e1. Epub 2015 Jul 29.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati College of Medicine, Cincinnati, OH.

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http://dx.doi.org/10.1016/j.jpeds.2015.07.001DOI Listing
October 2015

Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.

Eur J Med Genet 2015 Mar 12;58(3):180-3. Epub 2014 Dec 12.

Centro de Medicina Genómica y Metabolismo, Fundación Cardiovascular de Colombia, Floridablanca, Colombia; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.009DOI Listing
March 2015

Endothelial dysfunction and preeclampsia: role of oxidative stress.

Front Physiol 2014 10;5:372. Epub 2014 Oct 10.

Translational Biomedical Research Group, Biotechnology, Innovation and Technology Development, Cardiovascular Foundation of Colombia Floridablanca, Colombia ; Graduate Program in Biomedical Sciences, Faculty of Health, Universidad del Valle Cali, Colombia.

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http://dx.doi.org/10.3389/fphys.2014.00372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4193194PMC
October 2014

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

Eur J Med Genet 2014 Jul 24;57(7):339-344. Epub 2014 Apr 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ejmg.2014.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065856PMC
July 2014

Globus pallidus involvement as initial presentation of methylmalonic acidemia.

Mov Disord 2014 Jun 21;29(7):870. Epub 2014 Apr 21.

Centro de Medicina Genómica y Metabolismo, Fundación Cardiovascular de Colombia, Colombia; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, USA.

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http://dx.doi.org/10.1002/mds.25890DOI Listing
June 2014

Neuronopathic lysosomal storage diseases: clinical and pathologic findings.

Dev Disabil Res Rev 2013 ;17(3):226-46

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Ohio, USA.

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http://dx.doi.org/10.1002/ddrr.1116DOI Listing
March 2014

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.

J Child Neurol 2013 Dec 8;28(12):1681-5. Epub 2012 Nov 8.

1Department of Pediatrics, Division of Neurology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1177/0883073812464273DOI Listing
December 2013

Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition.

Acta Neuropathol 2013 Jan 26;125(1):159-68. Epub 2012 Oct 26.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1007/s00401-012-1056-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3547628PMC
January 2013

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships.

Genet Med 2013 Jan 2;15(1):70-8. Epub 2012 Aug 2.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://www.nature.com/articles/gim201294
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http://dx.doi.org/10.1038/gim.2012.94DOI Listing
January 2013

Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.

Pediatrics 2012 Aug 9;130(2):e456-60. Epub 2012 Jul 9.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 3333 Burnet Ave, MLC 4006, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1542/peds.2011-2927DOI Listing
August 2012

Recurrent pancreatitis in ornithine transcarbamylase deficiency.

Mol Genet Metab 2012 Aug 15;106(4):482-4. Epub 2012 Jun 15.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.005DOI Listing
August 2012

Genetic causes of macroglossia: diagnostic approach.

Pediatrics 2012 Feb 16;129(2):e431-7. Epub 2012 Jan 16.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2011-1732DOI Listing
February 2012

Severe cervical scoliosis in the fetus.

Prenat Diagn 2011 Dec 26;31(12):1198-202. Epub 2011 Oct 26.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1002/pd.2898DOI Listing
December 2011

Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1.

J Pediatr 2012 Mar 11;160(3):461-7. Epub 2011 Oct 11.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/j.jpeds.2011.08.051DOI Listing
March 2012

Cardiac disease in methylmalonic acidemia.

J Pediatr 2011 Nov 23;159(5):862-4. Epub 2011 Jul 23.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/j.jpeds.2011.06.005DOI Listing
November 2011

Lethal presentation of neurofibromatosis and Noonan syndrome.

Am J Med Genet A 2011 Jun 12;155A(6):1360-6. Epub 2011 May 12.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.33996DOI Listing
June 2011

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

Rheumatology (Oxford) 2010 Jun 18;49(6):1056-62. Epub 2010 Mar 18.

Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1093/rheumatology/keq048DOI Listing
June 2010

CD154 induces p73 to overcome the resistance to apoptosis of chronic lymphocytic leukemia cells lacking functional p53.

Blood 2006 Nov 1;108(10):3450-7. Epub 2006 Jun 1.

Moores Cancer Center, University of California-San Diego School of Medicine, La Jolla, CA 92093-0663, USA.

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http://dx.doi.org/10.1182/blood-2006-04-017749DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1895435PMC
November 2006