Search Results - "Koh, Ai Ling"

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome by Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo

“…Background Noonan syndrome (NS) is an autosomal dominant disorder that belongs to a group of developmental disorders called RASopathies with overlapping…”
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Restrictive dermopathy: A baby with taut skin, facial dysmorphism, joint contractures, and pulmonary hypoplasia by Ng, Wei Di, Koh, Ai Ling, Koh, Mark Jean Aan, Kong, Juin Yee

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Neonatal Arterial Tortuosity and Adult Aortic Aneurysm-Is There a Missing Link?-A Case Report by Bharadwaj, Srabani, Chan, Charmaine, Choo Tze Liang, Jonathan, Sanamandra, Sarat Kumar, Fortier, Marielle Valerie, Koh, Ai Ling, Sundararaghavan, Sreekanthan

“…We report a novel case of a full term newborn with non-immune fetal hydrops and arterial tortuosity mimicking a double aortic arch, and cranial fractures in…”
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A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement by Tan, Ene‐Choo, Chia, Shi Yun, Rafi’ee, Khadijah, Lee, Shan Xian, Kwek, Andrew Boon Eu, Tan, Sze Hwa, Ng, Victor Weng Leong, Wei, Heming, Koo, Stephanie, Koh, Ai Ling, Koh, Mark Jean‐Aan

“…Background CHILD syndrome is an X‐linked dominant disorder associated with pathogenic mutations in the NSDHL gene. The condition is predominantly found in…”
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Therapeutics in paediatric genetic diseases: Current and future landscape by Koh, Ai Ling, Jamuar, Saumya Shekhar

“…There are more than 7,000 paediatric genetic diseases (PGDs) but less than 5% have treatment options. Treatment strategies targeting different levels of the…”
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Genomic sequencing: ending the diagnostic odyssey for a child with microcephaly and dystonia with a perioperative challenge by Cheng, Duo-Tong, Yeo, Tong Hong, Seng, Michaela Su-Fern, Teoh, Oon Hoe, Lee, Sumin, Koh, Ai Ling

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Somatic genetic rescue of a germline ribosome assembly defect by Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick

“…Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in inherited Mendelian disorders. Here, we establish that acquired mutations…”
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Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome? by Koh, Ai Ling, Bonnard, Carine, Binte Ali, Nur Ain, Reversade, Bruno, Jamuar, Saumya

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Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohort by Nazeha, Nuraini, Koh, Ai Ling, Kam, Sylvia, Lim, Jiin Ying, Goh, Denise Li Meng, Jamuar, Saumya Shekhar, Graves, Nicholas

“…Children with genetic diseases endure a prolonged and costly “diagnostic odyssey.” The use of whole exome sequencing (WES) and whole genome sequencing (WGS)…”
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Neonatal rhabdomyoma with cardiac dysfunction: favourable response to sirolimus by Duan, Menghao, Sundararaghavan, Sreekanthan, Koh, Ai Ling, Soh, Shui Yen

“…Cardiac rhabdomyoma is the most common cardiac tumour in childhood, with a strong genetic association to tuberous sclerosis complex. Although most of the…”
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Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review by Leow, Esther Huimin, Chong, Siew Le, Tan, Ee Shien, Koh, Ai Ling, Cham, Breana Wen Min, Yap, Celeste Jia Ying, Ng, Yong Hong

“…Abstract Adenine phosphoribosyl transferase (APRT) deficiency is an autosomal recessive disorder and a rare cause of urolithiasis due to mutations in APRT…”
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Transforming paediatric practice by leveraging on genomic medicine by Koh, AL, Jamuar, SS, Lai, AHM

“…Genomic medicine entails the use of an individual’s genomic information in his or her clinical care to aid diagnosis and personalise management. As genetic…”
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The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease by Yap, Jia Ying Celeste, Lim, Jiin Ying, Bhatia, Anju, Tan, Vic Khi June, Koo, Stephanie, Nishimura, Gen, Moosa, Shahida, Koh, Ai Ling, Tan, Ene Choo, Fong, Nikki, Jamuar, Saumya Shekhar

“…We report on a female neonate with a clinico‐radiological presentation in keeping with a lethal form of prenatal Caffey disease (PCH). She had antenatal and…”
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DEGS1 -related leukodystrophy: a clinical report and review of literature by Wong, Melissa Song Ting, Thomas, Terrence, Lim, Jiin Ying, Kam, Sylvia, Teo, Jing Xian, Ching, Jianhong, Goh, Chew Yin Jasmine, Jamuar, Saumya Shekhar, Lim, Weng Khong, Koh, Ai Ling

“…Leukodystrophies are a heterogeneous group of disorders affecting the white matter of the central nervous system, with or without affecting the peripheral…”
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To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening by Heng, Thurston Yan Jia, Ow, Jin Rong, Koh, Ai Ling, Lim, James Soon Chuan, Ong, Christine Bee Keow, Goh, Jasmine Chew Yin, Lim, Jiin Ying, Chiou, Fang Kuan, Jamuar, Saumya Shekhar

“…Argininosuccinate lyase (ASL) deficiency is an autosomal recessive disorder of the urea cycle with a diverse spectrum of clinical presentation that is…”
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Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome? by Koh, Ai Ling, Bonnard, Carine, Lim, Jiin Ying, Liew, Woei Kang, Thoon, Koh Cheng, Thomas, Terrence, Ali, Nur Ain Binte, Ng, Alvin Yu Jin, Tohari, Sumanty, Phua, Kong Boo, Venkatesh, Byrappa, Reversade, Bruno, Jamuar, Saumya Shekhar

“…Shwachman–Diamond syndrome (SDS) is a rare multisystem ribosomal biogenesis disorder characterized by exocrine pancreatic insufficiency, hematologic…”
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DEGS1-related leukodystrophy: a clinical report and review of literature by Wong, Melissa Song Ting, Thomas, Terrence, Lim, Jiin Ying, Kam, Sylvia, Teo, Jing Xian, Ching, Jianhong, Goh, Chew Yin Jasmine, Jamuar, Saumya Shekhar, Lim, Weng Khong, Koh, Ai Ling

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Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect by Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick

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Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia by Tzen, Elyn Y.-L., Lim, Jiin Yin, Cheah, Sue Mei, Choo, Jonathan T.L., Kam, Sylvia, Ng, Zhi Min, Thomas, Biju, Jamuar, Saumya, Koh, Ai Ling, Tan, Ene-Choo

“…Background: Cardiofaciocutaneous syndrome (CFCS) is a rare genetic condition caused by mutations in BRAF, KRAS, MAP2K1, or MAP2K2. It is characterized by…”
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Restrictive dermopathy: A baby with taut skin, facial dysmorphism, joint contractures, and pulmonary hypoplasia by Ng, Wei Di, Koh, Ai Ling, Koh, Mark Jean Aan, Kong, Juin Yee

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