Search Results - "Keng, Wee Teik"

Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant by Garg, Abhimanyu, Keng, Wee-Teik, Chen, Zhenkang, Sathe, Adwait Amod, Xing, Chao, Kailasam, Pavithira Devi, Shao, Yanqiu, Lesner, Nicholas P, Llamas, Claire B, Agarwal, Anil K, Mishra, Prashant

“…Multiple genetic loci have been reported for progeroid syndromes. However, the molecular defects in some extremely rare forms of progeria have yet to be…”
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Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low‐to‐middle income Asian country by 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

“…With the advent of poly‐ADP‐ribose polymerase inhibitor (PARPi) therapies, the focus of genetic testing for breast, ovarian, and other cancers has shifted from…”
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Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features by Kameyama, Shinichi, Mizuguchi, Takeshi, Fukuda, Hiromi, Moey, Lip Hen, Keng, Wee Teik, Okamoto, Nobuhiko, Tsuchida, Naomi, Uchiyama, Yuri, Koshimizu, Eriko, Hamanaka, Kohei, Fujita, Atsushi, Miyatake, Satoko, Matsumoto, Naomichi

“…Biallelic variants in ZNF142 at 2q35, which encodes zinc-finger protein 142, cause neurodevelopmental disorder with seizures or dystonia. We identified…”
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Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome by Williamson, Kathleen A., Hever, Ann M., Rainger, Joe, Rogers, R. Curtis, Magee, Alex, Fiedler, Zdenek, Keng, Wee Teik, Sharkey, Freddie H., McGill, Niolette, Hill, Clare J., Schneider, Adele, Messina, Mario, Turnpenny, Peter D., Fantes, Judy A., van Heyningen, Veronica, FitzPatrick, David R.

“…We report heterozygous, loss-of-function SOX2 mutations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome. One previously…”
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Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients by Abdullah, Ili Syazwana, Teh, Ser-Huy, Khaidizar, Fiqri Dizar, Ngu, Lock-Hock, Keng, Wee-Teik, Yap, Sufin, Mohamed, Zulqarnain

“…Background Glycogen storage disease type III is an autosomal recessive disorder that is caused by deficiencies of the glycogen debranching enzyme. Mutations…”
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Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure by Balasubramaniam, S, Wamelink, Mirjam MC, Ngu, Lock‐Hock, Talib, Arni, Salomons, Gajja S, Jakobs, Cornelis, Keng, Wee‐Teik

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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia by Hall, Hildegard Nikki, Bengani, Hemant, Hufnagel, Robert B, Damante, Giuseppe, Ansari, Morad, Marsh, Joseph A, Grimes, Graeme R, Kriegsheim, Alex von, Moore, David, McKie, Lisa, Rahmat, Jamalia, Mio, Catia, Blyth, Moira, Keng, Wee Teik, Islam, Lily, McEntargart, Meriel, Mannens, Marcel M, Heyningen, Veronica Van, Rainger, Joe, Brooks, Brian P, FitzPatrick, David R

“…Classical aniridia is a congenital and progressive panocular disorder almost exclusively caused by heterozygous loss-of-function variants at the PAX6 locus. We…”
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Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges by Yunus, Zabedah Md, Rahman, Salina Abdul, Choy, Yew Sing, Keng, Wee Teik, Ngu, Lock Hock

“…The aim of this study was to determine the feasibility of performing newborn screening (NBS) of inborn errors of metabolism (IEMs) using tandem mass…”
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Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1 by Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck‐Martins, Carlos Eduardo, Carvalho, Daniel Rocha, Rizzo, Isabela Maria Pinto Oliveira, Mello, Walquiria Domingues, Heiner‐Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, Scherpenzeel, Monique, Janssen, Mirian, Boer, Lonneke, Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.

“…Congenital disorders of glycosylation type 1 (CDG‐I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with…”
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Genetic Testing for Cancer Risk: Is the Community Willing to Pay for It? by Aizuddin, Azimatun Noor, Ramdzan, Abdul Rahman, Syed Omar, Sharifah Azween, Mahmud, Zuria, Latiff, Zarina A., Amat, Salleh, Teik, Keng Wee, Siew, Ch’ng Gaik, Rais, Haniza, Aljunid, Syed Mohamed

“…With the increasing number of cancer cases worldwide, genetic testing for familiar cancers seems inevitable, yet little is known on population interest and the…”
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Cost-Effectiveness of Colorectal Cancer Genetic Testing by Ramdzan, Abdul Rahman, Manaf, Mohd Rizal Abdul, Aizuddin, Azimatun Noor, Latiff, Zarina A., Teik, Keng Wee, Ch'ng, Gaik-Siew, Ganasegeran, Kurubaran, Aljunid, Syed Mohamed

“…Colorectal cancer (CRC) remains the second leading cause of cancer-related deaths worldwide. Approximately 3–5% of CRCs are associated with hereditary cancer…”
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Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma by Mohd Khalid, Mohd Khairul Nizam, Yakob, Yusnita, Md Yasin, Rohani, Wee Teik, Keng, Siew, Ch'ng Gaik, Rahmat, Jamalia, Ramasamy, Sunder, Alagaratnam, Joseph

“…The availability of molecular genetic testing for retinoblastoma (RB) in Malaysia has enabled patients with a heritable predisposition to the disease to be…”
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Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study by Leong, Huey Yin, Abdul Azize, Nor Azimah, Chew, Hui Bein, Keng, Wee Teik, Thong, Meow Keong, Mohd Khalid, Mohd Khairul Nizam, Hung, Liang Choo, Mohamed Zainudin, Norzila, Ramlee, Azura, Md Haniffa, Muzhirah Aisha, Yakob, Yusnita, Ngu, Lock Hock

“…Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results…”
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Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients by Moey, Lip Hen, Abdul Azize, Nor Azimah, Yakob, Yusnita, Leong, Huey Yin, Keng, Wee Teik, Chen, Bee Chin, Ngu, Lock Hock

“…Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inborn error of gluconeogenesis. We reported the clinical findings and molecular…”
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Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype by Dutrannoy, Véronique, Demuth, Ilja, Baumann, Ulrich, Schindler, Detlev, Konrat, Kateryna, Neitzel, Heidemarie, Gillessen-Kaesbach, Gabriele, Radszewski, Janina, Rothe, Susanne, Schellenberger, Mario T, Nürnberg, Gudrun, Nürnberg, Peter, Teik, Keng Wee, Nallusamy, Revathy, Reis, André, Sperling, Karl, Digweed, Martin, Varon, Raymonda

“…We have previously shown that mutations in the genes encoding DNA Ligase IV (LIGIV) and RAD50, involved in DNA repair by nonhomologous-end joining (NHEJ) and…”
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Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability by Ali, E Z, Yakob, Y, Md Desa, N, Ishak, T, Zakaria, Z, Ngu, L K, Keng, W T

“…Fragile X syndrome (FXS) is a neurodevelopmental disorder commonly found worldwide, caused by the silencing of fragile X mental retardation 1 (FMR1) gene on…”
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Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome by Ismail, Nur Farrah Dila, Nik Abdul Malik, Nik Mohd Ariff, Mohseni, Jafar, Rani, Abdulqawee Mahyoob, Hayati, Fatemeh, Salmi, Abdul Razak, Narazah, Mohd Yusof, Zabidi-Hussin, Z.A.M.H., Silawati, Abdul Rashid, Keng, Wee Teik, Ngu, Lock Hock, Sasongko, Teguh Haryo

“…Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in…”
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Mutational Analyses on X-Linked Adrenoleukodystrophy Reveal a Novel Cryptic Splicing and Three Missense Mutations in the ABCD1 Gene by Hung, Kun-Long, MD, Wang, Jinn-Shyan, PhD, Keng, Wee Teik, MD, Chen, Hui-Ju, MD, Liang, Jao-Shwann, MD, Ngu, Lock Hock, MD, Lu, Jyh-Feng, PhD

“…Abstract Background X-linked adrenoleukodystrophy is caused by a defective peroxisomal membrane transporter, ABCD1, responsible for transporting…”
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Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome by Williamson, Kathleen A., Hever, Ann M., Rainger, Joe, Rogers, R. Curtis, Magee, Alex, Fiedler, Zdenek, Keng, Wee Teik, Sharkey, Freddie H., McGill, Niolette, Hill, Clare J., Schneider, Adele, Messina, Mario, Turnpenny, Peter D., Fantes, Judy A., van Heyningen, Veronica, FitzPatrick, David R.

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Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics by Liang, Jao-Shwann, Hung, Kun-Long, Lin, Li-Ju, Ong, Winnie Peitee, Keng, Wee Teik, Lu, Jyh-Feng

“…Zellweger spectrum disorders (ZSD) are rare autosomal recessive disorders caused by defects in peroxisome biogenesis factor (PEX; peroxin) genes leading to…”
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