Búsqueda | BVS CLAP/SMR-OPS/OMS

1.

The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.

Kumuthini, Judit; Zick, Brittany; Balasopoulou, Angeliki; Chalikiopoulou, Constantina; Dandara, Collet; El-Kamah, Ghada; Findley, Laura; Katsila, Theodora; Li, Rongling; Maceda, Ebner Bon; Monye, Henrietta; Rada, Gabriel; Thong, Meow-Keong; Wanigasekera, Thilina; Kennel, Hannah; Marimuthu, Veeramani; Williams, Marc S; Al-Mulla, Fahd; Abramowicz, Marc.

Hum Genet ; 2022 Apr 30.

Artículo en Inglés | MEDLINE | ID: mdl-35488921

2.

Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low-to-middle income Asian country.

Lee, Yong-Quan; Yoon, Sook-Yee; Hassan, Tiara; Padmanabhan, Heamanthaa; Yip, Cheng-Har; Keng, Wee-Teik; Thong, Meow-Keong; Ahmad Annuar, Muhammad Azrif; Mohd Taib, Nur Aishah; Teo, Soo-Hwang.

J Genet Couns ; 2022 Apr 28.

Artículo en Inglés | MEDLINE | ID: mdl-35481858

3.

Communication about positive BRCA1 and BRCA2 genetic test results and uptake of testing in relatives in a diverse Asian setting.

Lee, Daphne S-C; Meiser, Bettina; Mariapun, Shivaani; Hassan, Tiara; Yip, Cheng-Har; Mohd Taib, Nur A; Teo, Soo-Hwang; Thong, Meow-Keong; Yoon, Sook-Yee.

J Genet Couns ; 30(3): 720-729, 2021 06.

Artículo en Inglés | MEDLINE | ID: mdl-33245177

4.

Rubinstein-Taybi syndrome in diverse populations.

Tekendo-Ngongang, Cedrik; Owosela, Babajide; Fleischer, Nicole; Addissie, Yonit A; Malonga, Bryan; Badoe, Ebenezer; Gupta, Neerja; Moresco, Angélica; Huckstadt, Victoria; Ashaat, Engy A; Hussen, Dalia Farouk; Luk, Ho-Ming; Lo, Ivan F M; Hon-Yin Chung, Brian; Fung, Jasmine L F; Moretti-Ferreira, Danilo; Batista, Letícia Cassimiro; Lotz-Esquivel, Stephanie; Saborio-Rocafort, Manuel; Badilla-Porras, Ramses; Penon Portmann, Monica; Jones, Kelly L; Abdul-Rahman, Omar A; Uwineza, Annette; Prijoles, Eloise J; Ifeorah, Ifeanyi Kanayo; Llamos Paneque, Arianne; Sirisena, Nirmala D; Dowsett, Leah; Lee, Sansan; Cappuccio, Gerarda; Kitchin, Carolyn Sian; Diaz-Kuan, Alicia; Thong, Meow-Keong; Obregon, María Gabriela; Mutesa, Leon; Dissanayake, Vajira H W; El Ruby, Mona O; Brunetti-Pierri, Nicola; Ekure, Ekanem Nsikak; Stevenson, Roger E; Muenke, Maximilian; Kruszka, Paul.

Am J Med Genet A ; 182(12): 2939-2950, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-32985117

5.

Turner syndrome in diverse populations.

Kruszka, Paul; Addissie, Yonit A; Tekendo-Ngongang, Cedrik; Jones, Kelly L; Savage, Sarah K; Gupta, Neerja; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Aravena, Teresa; Nampoothiri, Sheela; Yesodharan, Dhanya; Girisha, Katta M; Patil, Siddaramappa Jagdish; Jamuar, Saumya Shekhar; Goh, Jasmine Chew-Yin; Utari, Agustini; Sihombing, Nydia; Mishra, Rupesh; Chitrakar, Neer Shoba; Iriele, Brenda C; Lulseged, Ezana; Megarbane, Andre; Uwineza, Annette; Oyenusi, Elizabeth Eberechi; Olopade, Oluwarotimi Bolaji; Fasanmade, Olufemi Adetola; Duenas-Roque, Milagros M; Thong, Meow-Keong; Tung, Joanna Y L; Mok, Gary T K; Fleischer, Nicole; Rwegerera, Godfrey M; de Herreros, María Beatriz; Watts, Johnathan; Fieggen, Karen; Huckstadt, Victoria; Moresco, Angélica; Obregon, María Gabriela; Hussen, Dalia Farouk; Ashaat, Neveen A; Ashaat, Engy A; Chung, Brian H Y; Badoe, Eben; Faradz, Sultana M H; El Ruby, Mona O; Shotelersuk, Vorasuk; Wonkam, Ambroise; Ekure, Ekanem Nsikak; Phadke, Shubha R.

Am J Med Genet A ; 182(2): 303-313, 2020 02.

Artículo en Inglés | MEDLINE | ID: mdl-31854143

6.

International perspectives on the implementation of reproductive carrier screening.

Delatycki, Martin B; Alkuraya, Fowzan; Archibald, Alison; Castellani, Carlo; Cornel, Martina; Grody, Wayne W; Henneman, Lidewij; Ioannides, Adonis S; Kirk, Edwin; Laing, Nigel; Lucassen, Anneke; Massie, John; Schuurmans, Juliette; Thong, Meow-Keong; van Langen, Irene; Zlotogora, Joël.

Prenat Diagn ; 40(3): 301-310, 2020 02.

Artículo en Inglés | MEDLINE | ID: mdl-31774570

7.

Growth hormone therapy for people with thalassaemia.

Ngim, Chin Fang; Lai, Nai Ming; Hong, Janet Yh; Tan, Shir Ley; Ramadas, Amutha; Muthukumarasamy, Premala; Thong, Meow-Keong.

Cochrane Database Syst Rev ; 5: CD012284, 2020 05 28.

Artículo en Inglés | MEDLINE | ID: mdl-32463488

8.

ß-Thalassemias.

Thong, Meow-Keong; Ngim, Chin-Fang.

N Engl J Med ; 384(22): 2165, 2021 Jun 03.

Artículo en Inglés | MEDLINE | ID: mdl-34077655

9.

Growth hormone therapy for people with thalassaemia.

Ngim, Chin Fang; Lai, Nai Ming; Hong, Janet Yh; Tan, Shir Ley; Ramadas, Amutha; Muthukumarasamy, Premala; Thong, Meow-Keong.

Cochrane Database Syst Rev ; 9: CD012284, 2017 09 18.

Artículo en Inglés | MEDLINE | ID: mdl-28921500

10.

Psychosocial outcome and health behaviour intent of breast cancer patients with BRCA1/2 and PALB2 pathogenic variants unselected by a priori risk.

Padmanabhan, Heamanthaa; Hassan, Nur Tiara; Wong, Siu-Wan; Lee, Yong-Quan; Lim, Joanna; Hasan, Siti Norhidayu; Yip, Cheng-Har; Teo, Soo-Hwang; Thong, Meow-Keong; Mohd Taib, Nur Aishah; Yoon, Sook-Yee.

PLoS One ; 17(2): e0263675, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-35167615

11.

Rare disease in Malaysia: Challenges and solutions.

Shafie, Asrul Akmal; Supian, Azuwana; Ahmad Hassali, Mohamed Azmi; Ngu, Lock-Hock; Thong, Meow-Keong; Ayob, Hatijah; Chaiyakunapruk, Nathorn.

PLoS One ; 15(4): e0230850, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-32240232

12.

Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.

Tay, Chee Geap; Fong, Choong Yi; Li, Limin; Ganesan, Vigneswari; Teh, Chee Ming; Gan, Chin Seng; Thong, Meow-Keong.

J Clin Neurosci ; 72: 468-471, 2020 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-31831253

13.

Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants.

Li, Limin; Fong, Choong Yi; Tay, Chee Geap; Tae, Sok Kun; Suzuki, Hisato; Kosaki, Kenjiro; Thong, Meow-Keong.

J Clin Neurosci ; 71: 289-292, 2020 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-31493991

14.

Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions.

Thong, Meow-Keong.

Am J Med Genet C Semin Med Genet ; 181(2): 254-261, 2019 06.

Artículo en Inglés | MEDLINE | ID: mdl-30801969

15.

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.

Am J Med Genet C Semin Med Genet ; 181(2): 155-165, 2019 06.

Artículo en Inglés | MEDLINE | ID: mdl-31050142

16.

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, Mercy.

Am J Med Genet C Semin Med Genet ; 181(2): 177-186, 2019 06.

Artículo en Inglés | MEDLINE | ID: mdl-31037827

17.

Cornelia de Lange syndrome in diverse populations.

Dowsett, Leah; Porras, Antonio R; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow-Keong; Leon, Eyby; Girisha, Katta M; Shukla, Anju; Nayak, Shalini S; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D; Dissanayake, Vajira H W; Ferreira, Carlos R; Kisling, Monisha S; Tanpaiboon, Pranoot; Uwineza, Annette; Mutesa, Leon; Tekendo-Ngongang, Cedrik; Wonkam, Ambroise; Fieggen, Karen; Batista, Leticia Cassimiro; Moretti-Ferreira, Danilo; Stevenson, Roger E; Prijoles, Eloise J; Everman, David; Clarkson, Kate; Worthington, Jessica; Kimonis, Virginia; Hisama, Fuki; Crowe, Carol; Wong, Paul; Johnson, Kisha; Clark, Robin D; Bird, Lynne; Masser-Frye, Diane; McDonald, Marie; Willems, Patrick; Roeder, Elizabeth; Saitta, Sulgana; Anyane-Yeoba, Kwame; Demmer, Laurie; Hamajima, Naoki; Stark, Zornitza; Gillies, Greta; Hudgins, Louanne.

Am J Med Genet A ; 179(2): 150-158, 2019 02.

Artículo en Inglés | MEDLINE | ID: mdl-30614194

18.

Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country.

Zahari, Norazah; Mat Bah, Mohd Nizam; A Razak, Hasliza; Thong, Meow-Keong.

Eur J Pediatr ; 178(8): 1267-1274, 2019 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-31222391

19.

Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities.

Thong, Meow-Keong; See-Toh, Yiling; Hassan, Jamiyah; Ali, Jaffar.

Genet Med ; 20(10): 1114-1121, 2018 10.

Artículo en Inglés | MEDLINE | ID: mdl-30093710

20.

GWAS signals revisited using human knockouts.

Maddirevula, Sateesh; AlZahrani, Fatema; Anazi, Shams; Almureikhi, Mariam; Ben-Omran, Tawfeg; Abdel-Salam, Ghada M H; Hashem, Mais; Ibrahim, Niema; Abdulwahab, Firdous M; Meriki, Neama; Bashiri, Fahad A; Thong, Meow-Keong; Muthukumarasamy, Premala; Azwani Mazlan, Rifhan; Shaheen, Ranad; Alkuraya, Fowzan S.

Genet Med ; 20(1): 64-68, 2018 01.

Artículo en Inglés | MEDLINE | ID: mdl-28640246

BVS CLAP/SMR-OPS/OMS

Centro Latinoamericano de Perinatología, Salud de la Mujer y Reproductiva

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The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.

Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low-to-middle income Asian country.

Communication about positive BRCA1 and BRCA2 genetic test results and uptake of testing in relatives in a diverse Asian setting.

Rubinstein-Taybi syndrome in diverse populations.

Turner syndrome in diverse populations.

International perspectives on the implementation of reproductive carrier screening.

Growth hormone therapy for people with thalassaemia.

ß-Thalassemias.

Growth hormone therapy for people with thalassaemia.

Psychosocial outcome and health behaviour intent of breast cancer patients with BRCA1/2 and PALB2 pathogenic variants unselected by a priori risk.

Rare disease in Malaysia: Challenges and solutions.

Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.

Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants.

Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions.

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

Training in clinical genetics and genetic counseling in Asia.

Cornelia de Lange syndrome in diverse populations.

Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country.

Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities.

GWAS signals revisited using human knockouts.