Carmencita D Padilla

Carmencita D Padilla

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Carmencita D Padilla

Carmencita D Padilla

Publications by authors named "Carmencita D Padilla"

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19Publications

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Newborn screening in the developing countries.

Curr Opin Pediatr 2018 12;30(6):734-739

Department of Pediatrics, University of the Philippines Manila.

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http://dx.doi.org/10.1097/MOP.0000000000000683DOI Listing
December 2018

Communication about Congenital Adrenal Hyperplasia: Perspective of Filipino Families.

J Genet Couns 2017 Aug 10;26(4):763-775. Epub 2016 Nov 10.

Department of Pediatrics, College of Medicine, University of the Philippines Manila, Manila, Philippines.

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http://dx.doi.org/10.1007/s10897-016-0043-xDOI Listing
August 2017

Genetics and genomic medicine in the Philippines.

Mol Genet Genomic Med 2016 Sep 15;4(5):494-503. Epub 2016 Sep 15.

Department of PediatricsCollege of MedicineUniversity of the Philippines ManilaManilaPhilippines; Institute of Human GeneticsNational Institutes of HealthUniversity of the Philippines ManilaManilaPhilippines; Philippine Genome CenterUniversity of the Philippines SystemQuezon CityPhilippines.

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http://dx.doi.org/10.1002/mgg3.247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023934PMC
September 2016

A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

Am J Hum Genet 2016 Apr 24;98(4):744-54. Epub 2016 Mar 24.

Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA; Clinical and Translational Science, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833215PMC
April 2016

Newborn screening progress in developing countries--overcoming internal barriers.

Semin Perinatol 2010 Apr;34(2):145-55

Department of Pediatrics, College of Medicine, University of the Philippines-Manila, Manila, Philippines.

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http://dx.doi.org/10.1053/j.semperi.2009.12.007DOI Listing
April 2010

Mapping human genetic diversity in Asia.

Science 2009 Dec;326(5959):1541-5

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http://dx.doi.org/10.1126/science.1177074DOI Listing
December 2009

Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.

Pediatr Int 2008 Jun;50(3):312-4

Institute of Human Genetics, National Institutes of Health Philippines, Manila, Philippines.

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http://dx.doi.org/10.1111/j.1442-200X.2008.02610.xDOI Listing
June 2008

Newborn screening in the Asia Pacific region.

J Inherit Metab Dis 2007 Aug 23;30(4):490-506. Epub 2007 Jul 23.

Department of Pediatrics, College of Medicine, and Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.

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http://dx.doi.org/10.1007/s10545-007-0687-7DOI Listing
August 2007

Beyond screening: challenges in measuring outcomes.

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:24-9

Department of Pediatrics, College of Medicine, Philippine General Hospital, Manila.

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July 2005

Newborn screening for congenital hypothyroidism in early discharged infants.

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:165-9

Section of Endocrinology, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila.

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July 2005

Hyperphenylalaninemia in the Philippines.

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:182-4

Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila.

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July 2005

Cost-benefit analysis of newborn screening for galactosemia in the Philippines.

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:215-20

Department of Pediatrics, Philippine General Hospital, University of the Philippines, Manila, Philippines.

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July 2005

Birth defects ascertainment in the Philippines.

Southeast Asian J Trop Med Public Health 2003 ;34 Suppl 3:239-43

Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila.

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http://www.tm.mahidol.ac.th/seameo/2003-34-suppl-3/southeast
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July 2005

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease.

Mol Genet Metab 2004 Feb;81(2):100-4

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo-ku, Kobe 650-0017, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2003.10.006DOI Listing
February 2004