Výsledky vyhledávání - "Angeline H M Lai"

Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1

Autor: Grace Lin, Heming Wei, Ene-Choo Tan, Breana Cham, Ee-Shien Tan, Angeline H. M. Lai, Jiin Ying Lim, Simon Ling, Saumya Shekhar Jamuar

Publikováno v: J Pediatr Genet

Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders. It is caused by mutations in the neurofibromin-1 gene (NF1) and affects the formation and growth of nerve tissues. More than 3,600 pathogenic variants in the NF1 gene have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3472a9c8ec950179de3e7885e2f58049
https://europepmc.org/articles/PMC10118707/

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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

Autor: Cordula Knopp, Petra Holschbach, Stephanie DiTroia, Maggie Brett, Ingo Kurth, Muna Al-Saffar, Ganeshwaran H. Mochida, Lynn Pais, Matthias Begemann, Jennifer E. Neil, Ene-Choo Tan, Angeline H. M. Lai, Lars Buschmann, Natja Haag, Christopher A. Walsh, Laila Bastaki, Florian Kraft

Publikováno v: European Journal of Human Genetics

Heterozygous missense variants in the WD repeat domain 11 (WDR11) gene are associated with hypogonadotropic hypogonadism in humans. In contrast, knockout of both alleles of Wdr11 in mice results in a more severe phenotype with growth and developmenta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e34322a16a4382dff4e06b7c6480422
https://pubmed.ncbi.nlm.nih.gov/34413497

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Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes

Autor: Pravin Rr, Louise Hartley, CC Tchoyoson Lim, Tong Hong Yeo, Mark Jean Aan Koh, Catherine Douch, Angeline H M Lai, Terrence Thomas

Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 33

Incontinentia Pigmenti (IP) is a neurocutaneous syndrome, with malformations of cortical development and neurodevelopmental delay in some patients. Neonates with IP may develop acute encephalopathy with multifocal ischemic brain lesions with a speckl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::416e314412d0eac61201bc66cf8baab8
https://pubmed.ncbi.nlm.nih.gov/34133990

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Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature

Autor: Saumya Shekhar Jamuar, Maggie Brett, Jonathan Tze Liang Choo, Angeline H. M. Lai, Ene-Choo Tan, Biju Thomas, Jiin Ying Lim, Hai-Yang Law, Neha Singh Bhatia

Publikováno v: Clinical Dysmorphology. 28:53-56

Palumbo et al. (2015) reported a female with chromosome 12q24.31 microdeletion presenting with neurodevelopmental delay, seizures, intellectual disability, and dysmorphic features, who was also noted to have a patent foramen ovale requiring interatri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bdb96cf99debd65466e587135958d5b3
https://doi.org/10.1097/mcd.0000000000000245

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Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders

Autor: Ivy Ng, Chui-Sun Yap, Teck Wah Ting, Saumya Shekhar Jamuar, Angeline H. M. Lai, Ee-Shien Tan, Ene-Choo Tan

Publikováno v: Gene. 731

Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive facies, postnatal growth deficiency, cardiac defects and skeletal anomalies. Studies have determined that pathogenic variants of the lysine-specific methyltransferase 2D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::137bece90d68b8f45231efba61e8d9cc
https://pubmed.ncbi.nlm.nih.gov/31935506

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Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene

Autor: Angeline H. M. Lai, Teck Wah Ting, Heming Wei, Ene-Choo Tan, Sophie Lian, Ee-Shien Tan, Breana Cham

Publikováno v: Journal of the Neurological Sciences. 414:116819

Background Pathogenic variants of the ARID1B gene are recognized as the most common cause of Coffin-Siris syndrome (CSS) and also one of the most common causes for intellectual disability (ID). Reported ARID1B variants in association with CSS are mos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f94cf6a29b954be0f607d80f8e5d1f9
https://doi.org/10.1016/j.jns.2020.116819

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