Search Results - "Tan, Ene Choo"

Epidermolytic epidermal nevus on the genitalia caused by a mosaic KRT10 mutation by Gomez, Kathleen Mitch Uy, Koo, Stephanie, Koh, Mark Jean‐Aan, Tan, Ene‐Choo

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Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation by Tan, Ene‐Choo, Lai, Angeline H. M., Brett, Maggie S. Y.

“…Pathogenic variants in NOTCH2 which encodes a single‐pass transmembrane protein have been identified as a cause of several autosomal dominant congenital…”
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Clinical application of next-generation sequencing for Mendelian diseases by Jamuar, Saumya Shekhar, Tan, Ene-Choo

“…Over the past decade, next-generation sequencing (NGS) has led to an exponential increase in our understanding of the genetic basis of Mendelian diseases. NGS…”
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Innate Immune and Neuronal Genetic Markers Are Highly Predictive of Postoperative Pain and Morphine Patient-Controlled Analgesia Requirements in Indian but Not Chinese or Malay Hysterectomy Patients by Barratt, Daniel T, Sia, Alex T, Tan, Ene-Choo, Somogyi, Andrew A

“…Abstract Objective Pain severity and opioid requirements in the postoperative period show substantial and clinically significant inter-patient variation due…”
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Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases by Fong, Nikki, Wei, Heming, Lim, Jiin Ying, Goh, Chew‐Yin Jasmine, Kam, Sylvia, Jamuar, Saumya Shekhar, Tan, Ene‐Choo

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Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia by Arline Diana, Inne, Tan, Ene-Choo, Gondokaryono, Srie Prihianti, Koh, Mark Jean-Aan, Dwiyana, Reiva Farah, Rahardja, July Iriani, Yogya, Yuri, Rafi'ee, Khadijah, Suwarsa, Oki

“…Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogeneity. Clinical diagnosis of the EB subtypes…”
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Analysis of SCN9A Gene Variants for Acute and Chronic Postoperative Pain and Morphine Consumption After Total Hysterectomy by Yeo, Junjie, Sia, Alex T, Sultana, Rehana, Sng, Ban Leong, Tan, Ene-Choo

“…Abstract Background Single nucleotide polymorphisms (SNPs) of the voltage-gated sodium channel alpha subunit gene (SCN9A) have been associated with pain in…”
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature by Reijnders, Margot R F, Janowski, Robert, Alvi, Mohsan, Self, Jay E, van Essen, Ton J, Vreeburg, Maaike, Rouhl, Rob P W, Stevens, Servi J C, Stegmann, Alexander P A, Schieving, Jolanda, Pfundt, Rolph, van Dijk, Katinke, Smeets, Eric, Stumpel, Connie T R M, Bok, Levinus A, Cobben, Jan Maarten, Engelen, Marc, Mansour, Sahar, Whiteford, Margo, Chandler, Kate E, Douzgou, Sofia, Cooper, Nicola S, Tan, Ene-Choo, Foo, Roger, Lai, Angeline H M, Rankin, Julia, Green, Andrew, Lönnqvist, Tuula, Isohanni, Pirjo, Williams, Shelley, Ruhoy, Ilene, Carvalho, Karen S, Dowling, James J, Lev, Dorit L, Sterbova, Katalin, Lassuthova, Petra, Neupauerová, Jana, Waugh, Jeff L, Keros, Sotirios, Clayton-Smith, Jill, Smithson, Sarah F, Brunner, Han G, van Hoeckel, Ceciel, Anderson, Mel, Clowes, Virginia E, Siu, Victoria Mok, Ddd Study, The, Selber, Paulo, Leventer, Richard J, Nellaker, Christoffer, Niessing, Dierk, Hunt, David, Baralle, Diana

“…De novo mutations in have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID),…”
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Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa by Tan, Ene‐Choo, Diana, Inne Arline, Wei, Heming, Gondokaryono, Srie Prihianti, Dwiyana, Reiva Farah, Yogya, Yuri, Rahardja, July Iriani, Koh, Mark Jean‐Aan

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ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects by Izumi, Kosuke, Brett, Maggie, Nishi, Eriko, Drunat, Séverine, Tan, Ee-Shien, Fujiki, Katsunori, Lebon, Sophie, Cham, Breana, Masuda, Koji, Arakawa, Michiko, Jacquinet, Adeline, Yamazumi, Yusuke, Chen, Shu-Ting, Verloes, Alain, Okada, Yuki, Katou, Yuki, Nakamura, Tomohiko, Akiyama, Tetsu, Gressens, Pierre, Foo, Roger, Passemard, Sandrine, Tan, Ene-Choo, El Ghouzzi, Vincent, Shirahige, Katsuhiko

“…Cellular homeostasis is maintained by the highly organized cooperation of intracellular trafficking systems, including COPI, COPII, and clathrin complexes…”
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Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes by Wei, Heming, Lai, Angeline, Tan, Ee Shien, Koh, Mark Jean Aan, Ng, Ivy, Ting, Teck Wah, Thomas, Terrence, Cham, Breana, Lim, Jiin Ying, Kam, Sylvia, Goh, Chew Yin Jasmine, Lin, Grace, Brett, Maggie, Chan, Derrick, Jamuar, Saumya Shekhar, Tan, Ene-Choo

“…ObjectiveTo test the utility and diagnostic yield of a medical-exome gene panel for identifying pathogenic variants in Mendelian…”
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A118G Single Nucleotide Polymorphism of Human μ-Opioid Receptor Gene Influences Pain Perception and Patient-controlled Intravenous Morphine Consumption after Intrathecal Morphine for Postcesarean Analgesia by SIA, Alex T, LIM, Yvonne, LIM, Eileen C. P, GOH, Rachelle W. C, HAI YANG LAW, LANDAU, Ruth, TEO, Yik-Ying, ENE CHOO TAN

“…Previous studies have shown that genetic variability at position 118 of the human mu-opioid receptor gene altered patients' response to intravenous morphine…”
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Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders by Bylstra, Yasmin, Kuan, Jyn Ling, Lim, Weng Khong, Bhalshankar, Jaydutt Digambar, Teo, Jing Xian, Davila, Sonia, Te Teh, Bin an, Rozen, Steve, Tan, Ene-Choo, Liew, Wendy Kein Meng, Yeo, Khung Keong, Tan, Patrick, Saw, Seang Mei, Cheng, Ching-Yu, Cook, Stuart, Foo, Roger, Jamuar, Saumya Shekhar

“…Genomic studies have demonstrated the necessity of ethnicity-specific population data to ascertain variant pathogenicity for disease diagnosis and treatment…”
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Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia by Wei, Heming, Wee, Lynette W. Y., Born, Bori, Seang, Sokheng, Koh, Mark J. A., Yee, Ruixiang, Lin, Grace, Rafi'ee, Khadijah, Mey, Sithach, Tan, Ene‐Choo

“…Haim–Munk syndrome (HMS) and Papillon–Lefevre syndrome (PLS) are phenotypic variants of palmoplantar keratoderma (PPK) with progressive early‐onset…”
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Additional individuals with CHD7 variants in Chinese and other southeast Asian patients by Wei, Heming, Tan, Ee‐Shien, Jamuar, Saumya, Lai, Angeline H. M., Ng, Ivy, Tan, Ene‐Choo

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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability by Haag, Natja, Tan, Ene-Choo, Begemann, Matthias, Buschmann, Lars, Kraft, Florian, Holschbach, Petra, Lai, Angeline H M, Brett, Maggie, Mochida, Ganeshwaran H, DiTroia, Stephanie, Pais, Lynn, Neil, Jennifer E, Al-Saffar, Muna, Bastaki, Laila, Walsh, Christopher A, Kurth, Ingo, Knopp, Cordula

“…Heterozygous missense variants in the WD repeat domain 11 (WDR11) gene are associated with hypogonadotropic hypogonadism in humans. In contrast, knockout of…”
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Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation by Brett, Maggie, Lai, Angeline H. M., Ting, Teck‐Wah, Tan, Ah‐Moy, Foo, Roger, Jamuar, Saumya, Tan, Ene‐Choo

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Self‐improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia by Bishnoi, Priya, Ng, Yi Zhen, Wei, Heming, Tan, Ene‐Choo, Lunny, Declan P., Wong, X. F. Colin C., Kin Fon, Leong, Gondokaryono, Srie Prihianti, Diana, Inne Arline, Common, John E. A., Koh, Mark J. A., Lane, E. Birgitte

“…Self‐improving dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by significant improvement in skin…”
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Correlation of cord blood telomere length with birth weight by Lee, Siew-Peng, Hande, Prakash, Yeo, George Sh, Tan, Ene-Choo

“…Intrauterine growth restriction affects 3% of newborns; and the lightest 10% of whom are classified as small for gestational age (SGA). These low-birth weight…”
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Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event by Brett, Maggie, Korovesis, George, Lai, Angeline H M, Lim, Eileen C P, Tan, Ene-Choo

“…Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the…”
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