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1

Newborn screening in the developing countries

Therrell, Bradford L., Padilla, Carmencita D.

Journal:

Current Opinion in Pediatrics

Year:

2018

Language:

english

File:

PDF, 189 KB

english, 2018

2

Consolidating newborn screening efforts in the Asia Pacific region

Carmencita David Padilla, Bradford L. Therrell, on behalf of the Working Group of the Asia Pacific Society for Human Genetics on Consolidating Newborn Screening Efforts in the Asia Pacific Region

Journal:

Journal of Community Genetics

Year:

2012

Language:

english

File:

PDF, 740 KB

english, 2012

3

Newborn Screening Progress in Developing Countries—Overcoming Internal Barriers

Carmencita D. Padilla, Danuta Krotoski, Bradford L. Therrell Jr

Journal:

Seminars in Perinatology

Year:

2010

Language:

english

File:

PDF, 1.71 MB

english, 2010

4

Current status of newborn screening worldwide: 2015

Therrell, Bradford L., Padilla, Carmencita David, Loeber, J. Gerard, Kneisser, Issam, Saadallah, Amal, Borrajo, Gustavo J.C., Adams, John

Journal:

Seminars in Perinatology

Year:

2015

Language:

english

File:

PDF, 3.51 MB

english, 2015

5

Communication about Congenital Adrenal Hyperplasia: Perspective of Filipino Families

Abad, Peter James B., Anonuevo, Cora A., Daack-Hirsch, Sandra, Abad, Lorna R., Padilla, Carmencita D., Laurino, Mercy Y.

Journal:

Journal of Genetic Counseling

Year:

2016

Language:

english

File:

PDF, 440 KB

english, 2016

6

Empowering newborn screening programs in African countries through establishment of an international collaborative effort

Therrell, Bradford L., Lloyd-Puryear, Michele A., Ohene-Frempong, Kwaku, Ware, Russell E., Padilla, Carmencita D., Ambrose, Emmanuela E., Barkat, Amina, Ghazal, Hassan, Kiyaga, Charles, Mvalo, Tisunga

Journal:

Journal of Community Genetics

Year:

2020

File:

PDF, 439 KB

2020

7

More deletions in the 5′ region than in the central region of the dystrophin gene were identified among filipino duchenne and becker muscular dystrophy patients

Eva Malia Cutiongco, Carmencita D. Padilla, Kaori Takenaka, Yuko Yamasaki, Masafumi Matsuo, Hisahide Nishio

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 193 KB

english, 1995

8

Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method: A pilot study on Filipino male newborns

CARMENCITA PADILLA, KAORU NISHIYAMA, TAKU SHIRAKAWA, MASAFUMI MATSUO, FOR THE NEWBORN SCREENING STUDY GROUP

Journal:

Pediatrics International

Year:

2003

Language:

english

File:

PDF, 218 KB

english, 2003

9

Newborn screening in the Asia Pacific region

Carmencita D. Padilla, Bradford L. Therrell

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 389 KB

english, 2007

10

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

Catherine Lynn T. Silao, Carmencita D. Padilla, Masafumi Matsuo

Journal:

Pediatrics International

Year:

2008

Language:

english

File:

PDF, 72 KB

english, 2008

11

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

Catherine Lynn T Silao, Carmencita D Padilla, Masafumi Matsuo

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 146 KB

english, 2004

12

Genetic services and testing in the Philippines

Padilla, Carmencita David, Paz, Eva Maria Cutiongco

Journal:

Journal of Community Genetics

Year:

2013

Language:

english

File:

PDF, 492 KB

english, 2013

13

Genetic Counseling Training in the Philippines

Mercy Ygona Laurino, Carmencita David Padilla

Journal:

Journal of Genetic Counseling

Year:

2013

Language:

english

File:

PDF, 109 KB

english, 2013

14

Genetic Counseling/Consultation in South-East Asia: A Report from the Workshop at the 10th Asia Pacific Conference on Human Genetics

Zayts, Olga, Sarangi, Srikant, Thong, Meow-Keong, Chung, Brian Hon-yin, Lo, Ivan Fao-man, Kan, Anita Sik-yau, Lee, Juliana Mei-Har, Padilla, Carmencita David, Cutiongco-de la Paz, Eva Maria, Faradz, S

Journal:

Journal of Genetic Counseling

Year:

2013

Language:

english

File:

PDF, 166 KB

english, 2013

15

Geochemical evidence of magma intrusion inferred from diffuse CO2emissions and fumarole plume chemistry: the 2010–2011 volcanic unrest at Taal Volcano, Philippines

Arpa, Mª Carmencita, Hernández, Pedro A., Padrón, Eleazar, Reniva, Paolo, Padilla, Germán D., Bariso, Ericson, Melián, Gladys V., Barrancos, José, Nolasco, Dácil, Calvo, David, Pérez, Nemesio M., Soli

Journal:

Bulletin of Volcanology

Year:

2013

Language:

english

File:

PDF, 1.43 MB

english, 2013

16

Preconception Health Assessment in China, Lebanon and the Philippines: Applicability to Other Countries

Reeve, Mary-Elizabeth, Charafeddine, Lama, Zhong, Nanbert, Padilla, Carmencita D., Yunis, Khalid, El Rafei, Reem, Alamiddine, Kawthar, Zhao, Xinliang, Jiang, Xiaoqing, Howson, Christopher P.

Journal:

Maternal and Child Health Journal

Year:

2014

Language:

english

File:

PDF, 270 KB

english, 2014

17

An Asia Pacific Alliance for Rare Diseases

Wong-Rieger, Durhane, Claxton, William, Vines, Richard, Padilla, Carmencita, Tsang, Kin Ping, Hickinbotham, Lucy

Journal:

The Patient: Patient-Centered Outcomes Research

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

18

G6PD Deficiency Prevalence and Estimates of Affected Populations in Malaria Endemic Countries: A Geostatistical Model-Based Map

Howes, Rosalind E., Piel, Frédéric B., Patil, Anand P., Nyangiri, Oscar A., Gething, Peter W., Dewi, Mewahyu, Hogg, Mariana M., Battle, Katherine E., Padilla, Carmencita D., Baird, J. Kevin, Hay, Simo

Journal:

Year:

2012

Language:

english

File:

PDF, 1.67 MB

english, 2012

19

Barriers to implementing sustainable national newborn screening in developing health systems

Therrell, Bradford L., Padilla, Carmencita D.

Journal:

International Journal of Pediatrics and Adolescent Medicine

Year:

2014

Language:

english

File:

PDF, 423 KB

english, 2014

20

Axenfeld anomaly in association with hypomelanosis of Ito

Flaherty, Maree P., Padilla, Carmencita D., Sillence, David O.

Journal:

Ophthalmic Genetics

Year:

1991

Language:

english

File:

PDF, 729 KB

english, 1991

21

Prevention of Congenital Disorders and Care of Affected Children

Darmstadt, Gary L., Howson, Christopher P., Walraven, Gijs, Armstrong, Robert W., Blencowe, Hannah K., Christianson, Arnold L., Kent, Alastair, Malherbe, Helen, Murray, Jeffrey C., Padilla, Carmencita

Journal:

JAMA Pediatrics

Year:

2016

Language:

english

File:

PDF, 72 KB

english, 2016

22

Genetics and genomic medicine in the Philippines

Padilla, Carmencita D., Cutiongco-de la Paz, Eva Maria

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 507 KB

english, 2016

23

GWAS reveals loci associated with velopharyngeal dysfunction

Chernus, Jonathan, Roosenboom, Jasmien, Ford, Matthew, Lee, Myoung Keun, Emanuele, Beth, Anderton, Joel, Hecht, Jacqueline T., Padilla, Carmencita, Deleyiannis, Frederic W. B., Buxo, Carmen J., Feingo

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 1.12 MB

english, 2018

24

AB088. Prevalence of alpha thalassemia mutations in Filipino patients

Silao, Catherine Lynn Tipton, Fabella, Terence Diane F., Naranjo, Maria Liza T., Padilla, Carmencita D., Yuson, Ernesto D. J.

Journal:

Annals of translational medicine

Year:

2017

Language:

english

File:

PDF, 116 KB

english, 2017

25

AB122. Occurrence of birth defects at the Philippine General Hospital, 2013–2014: a prospective study

Alcausin, Maria Melanie Liberty, Sur, Aster Lynn D., Tumulak, Ma-Am Joy R., Padilla, Carmencita D.

Journal:

Annals of translational medicine

Year:

2017

Language:

english

File:

PDF, 101 KB

english, 2017

26

Training in clinical genetics and genetic counseling in Asia

Cutiongco‐de la Paz, Eva Maria, Chung, Brian Hon‐Yin, Faradz, Sultana M. H., Thong, Meow‐Keong, David‐Padilla, Carmencita, Lai, Poh San, Lin, Shuan‐Pei, Chen, Yin‐Hsiu, Sura, Thanyachai, Laurino, Merc

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2019

Language:

english

File:

PDF, 1.38 MB

english, 2019

27

Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia

Wasant, Pornswan, Padilla, Carmencita, Lam, Stephen, Thong, Meow‐Keong, Lai, Poh‐San

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2019

Language:

english

File:

PDF, 1.44 MB

english, 2019

28

Parents of Children With Nonsyndromic Orofacial Clefting Show Altered Palate Shape

El Sergani, Ahmed M., Brandebura, Stephanie, Padilla, Carmencita, Butali, Azeez, Adeyemo, Wasiu L., Valencia-RamÃrez, Consuelo, MuÃ±eton, Claudia P. Restrepo, Moreno, Lina M., BuxÃ³, Carmen J., Long,

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2020

File:

PDF, 699 KB

2020

29

Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement

Padilla, Carmencita D., Therrell, Bradford L., Panol, Karen Asuncion R., Suarez, Riza Concordia N., Reyes, Ma. Elouisa L., Jomento, Charity M., Maceda, Ebner Bon G., Lising, Jovy Ann C., Beltran, Fred

Journal:

International Journal of Neonatal Screening

Year:

2020

File:

PDF, 1.02 MB

2020