Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1631
Abstract: BACKGROUND Neurofibromatosis 1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the… read more here.
Keywords: nf1 gene; mutational spectrum; spectrum nf1; pathology ... See more keywords
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1825
Abstract: The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations. read more here.
Keywords: rahman syndrome; spectrum rahman; mutational spectrum; syndrome ... See more keywords
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Sign Up to like & getrecommendations! Published in 2017 at "Neurologia"
DOI: 10.1016/j.nrl.2015.12.009
Abstract: INTRODUCTION Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disease that affects one in 3500 live-born males. The total absence of dystrophin observed in DMD patients is generally caused by mutations that disrupt… read more here.
Keywords: 284 cases; mutational spectrum; muscular dystrophy; duchenne muscular ... See more keywords
Complete mutational spectrum of the autophagy interactome: a novel class of tumor suppressor genes in myeloid neoplasms
Sign Up to like & getrecommendations! Published in 2017 at "Leukemia"
DOI: 10.1038/leu.2016.295
Abstract: Complete mutational spectrum of the autophagy interactome: a novel class of tumor suppressor genes in myeloid neoplasms read more here.
Keywords: complete mutational; mutational spectrum; spectrum autophagy; autophagy interactome ... See more keywords
Mutational spectrum and prognosis in NRAS-mutated acute myeloid leukemia
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DOI: 10.1038/s41598-020-69194-6
Abstract: The mutational spectrum and prognostic factors of NRAS-mutated (NRASmut) acute myeloid leukemia (AML) are largely unknown. We performed next-generation sequencing (NGS) in 1,149 cases of de novo AML and discovered 152 NRASmut AML (13%). Of… read more here.
Keywords: nras mutated; prognostic factors; mutational spectrum; myeloid leukemia ... See more keywords
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China
Sign Up to like & getrecommendations! Published in 2018 at "Scandinavian Journal of Clinical and Laboratory Investigation"
DOI: 10.1080/00365513.2018.1434898
Abstract: Abstract Phenylketonuria (PKU, OMIM 261600) caused by phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disease that is characterized by abnormalities of phenylalanine metabolism. In this study, a total of 77 patients, originating from the… read more here.
Keywords: region china; mutational spectrum; central region; phenylalanine hydroxylase ... See more keywords
Expanding the mutational spectrum of FHONDA syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2175873
Abstract: AIM The aim of the study is to present a rare case of Foveal Hypoplasia, Optic Nerve Decussation defects, and Anterior segment dysgenesis (FHONDA) confirmed by genetic testing with two separate pathogenic mutations in the… read more here.
Keywords: foveal hypoplasia; mutational spectrum; fhonda; expanding mutational ... See more keywords
The mutational spectrum of SARS-CoV-2 genomic and antigenomic RNA
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the Royal Society B: Biological Sciences"
DOI: 10.1098/rspb.2022.1747
Abstract: The raw material for viral evolution is provided by intra-host mutations occurring during replication, transcription or post-transcription. Replication and transcription of Coronaviridae proceed through the synthesis of negative-sense ‘antigenomes’ acting as templates for positive-sense genomic… read more here.
Keywords: strand; spectrum sars; rna; mutational spectrum ... See more keywords
Mutational spectrum of ATRX aberrations in neuroblastoma and associated patient and tumor characteristics
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DOI: 10.1111/cas.15363
Abstract: Neuroblastoma is the most common extracranial solid tumor in children. The chromatin remodeler ATRX is frequently mutated in high‐risk patients with a poor prognosis. Although many studies have reported ATRX aberrations and the associated clinical… read more here.
Keywords: mutational spectrum; tumor; atrx aberrations; spectrum atrx ... See more keywords
Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13649
Abstract: Children with neurofibromatosis type 1 (NF1) may exhibit an incomplete clinical presentation, making difficult to reach a clinical diagnosis. A phenotypic overlap may exist in children with other RASopathies or with other genetic conditions if… read more here.
Keywords: patients clinical; mutational spectrum; suspicion rasopathy; panel ... See more keywords
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13775
Abstract: UBE2A deficiency, that is, intellectual disability (ID) Nascimento type (MIM 300860), is an X‐linked syndrome characterized by developmental delay, moderate to severe ID, seizures, dysmorphisms, skin anomalies, and urogenital malformations. Forty affected subjects have been… read more here.
Keywords: mutational spectrum; ube2a deficiency; clinical mutational; refinement clinical ... See more keywords