| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Alyamama Kousa, Reem Ahmed, Pr Diana Alasma. Syrian child carrying multiple pathogenic variants in MBOAT7 and MT-TS1 genes: a case report on neurodevelopmental phenotypes and mitochondrial inheritance. Annals of medicine and surgery (2012). vol 86. issue 5. 2024-05-02. PMID:38694353. |
patients with mboat7 variants exhibit pathogenic nervous manifestations such as global developmental delays affecting speech and motor function, intellectual disability (id), poor coordination, and seizures, with or without mri abnormalities. |
2024-05-02 |
2024-05-04 |
Not clear |
| Erfan Heidari, Andrea Caddeo, Kiana Zarabadi, Maryam Masoudi, Ali Reza Tavasoli, Stefano Romeo, Masoud Garshasb. Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability. Genomics. vol 112. issue 6. 2021-09-15. PMID:32645526. |
identification of novel loss of function variants in mboat7 resulting in intellectual disability. |
2021-09-15 |
2023-08-13 |
human |
| Erfan Heidari, Andrea Caddeo, Kiana Zarabadi, Maryam Masoudi, Ali Reza Tavasoli, Stefano Romeo, Masoud Garshasb. Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability. Genomics. vol 112. issue 6. 2021-09-15. PMID:32645526. |
patients with homozygous nonsense mutations in mboat7 have intellectual disability (id) accompanied with seizure and autism. |
2021-09-15 |
2023-08-13 |
human |
| Marianna Farnè, Giovanna M Tedesco, Chiara Bedetti, Amedea Mencarelli, Daniela Rogaia, Davide Colavito, Giuseppe Di Cara, Gabriela Stangoni, Stefania Troiani, Alessandra Ferlini, Paolo Pronter. A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile. American journal of medical genetics. Part A. vol 182. issue 10. 2021-06-01. PMID:32744787. |
mutations in the mboat7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [id], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. |
2021-06-01 |
2023-08-13 |
Not clear |
| Joseph E Jacher, Nikita Roy, Mohammad Ghaziuddin, Jeffrey W Inni. Expanding the phenotypic spectrum of MBOAT7-related intellectual disability. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 180. issue 7. 2020-06-15. PMID:31282596. |
mboat7 gene pathogenic variants are a newly discovered and rare cause for intellectual disability, autism spectrum disorder (asd), seizures, truncal hypotonia, appendicular hypertonia, and below average head sizes (ranging from -1 to -3 standard deviations). |
2020-06-15 |
2023-08-13 |
Not clear |
| Joseph E Jacher, Nikita Roy, Mohammad Ghaziuddin, Jeffrey W Inni. Expanding the phenotypic spectrum of MBOAT7-related intellectual disability. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 180. issue 7. 2020-06-15. PMID:31282596. |
medical genetics and psychiatric evaluations in a 14-year-old female patient with a history of global developmental delay, intellectual disability, overgrowth with macrocephaly, metrorrhagia, seizures, basal ganglia hyperintensities, nystagmus, strabismus with amblyopia, asd, anxiety, attention deficit hyperactivity disorder (adhd), aggressive outbursts, and hyperphagia included a karyotype, methylation polymerase chain reaction for prader-willi/angelman syndrome, chromosome microarray, and whole exome sequencing (wes), ados2, and adi-r. wes identified a homozygous, likely pathogenic variant in the mboat7 gene (c.855-2a>g). |
2020-06-15 |
2023-08-13 |
Not clear |
| Anide Johansen, Rasim O Rosti, Damir Musaev, Evan Sticca, Ricardo Harripaul, Maha Zaki, Ahmet Okay Çağlayan, Matloob Azam, Tipu Sultan, Tawfiq Froukh, André Reis, Bernt Popp, Iltaf Ahmed, Peter John, Muhammad Ayub, Tawfeg Ben-Omran, John B Vincent, Joseph G Gleeson, Rami Abou Jamr. Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. American journal of human genetics. vol 99. issue 4. 2017-05-24. PMID:27616480. |
mutations in mboat7, encoding lysophosphatidylinositol acyltransferase i, lead to intellectual disability accompanied by epilepsy and autistic features. |
2017-05-24 |
2023-08-13 |
human |