Results 1 to 10 of about 18,812 (235)
Molecular Genetics & Genomic Medicine, 2020 Background Neurodevelopmental disorders (NDDs) are a group of disorders with high genetic and phenotypic heterogeneities. The 16p11.2 microdeletion has been implicated as an important genetic risk factor for NDDs. Methods Multiple genetic tests were used
Hua Xie +10 more
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Frontiers in Immunology, 2023 ISG15 deficiency is a rare disease caused by autosomal recessive variants in the ISG15 gene, which encodes the ISG15 protein. The ISG15 protein plays a dual role in both the type I and II interferon (IFN) immune pathways.
Alice Burleigh +26 more
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Chromosome 1p31.1 deletion syndrome: Limited expression
Annals of Indian Academy of Neurology, 2021 Chromosomal microdeletion syndromes usually present with neurological abnormalities, developmental delays, and various systemic abnormalities.
Seba Biswal +4 more
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A procedure to detect 6 basic STSs and 11 extended STSs in the AZF region using multiplex PCR
Vietnam Journal of Science, Technology and Engineering, 2022 Microdeletions of Y chromosomes frequently occur in 3 subregions of the AZF, namely, AZFa, AZFb, and AZFc, with 6 basic STS marker sequences, which are sY84, sY86 (AZFa), sY127, sY134 (AZFb), and sY254, sY255 (AZFc). According to EAA/EMNQ guidelines, 11
Thi Lan Anh Luong +3 more
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Clinical Case Reports, 2023 Small supernumerary marker chromosomes (sSMC) can form small supernumerary ring chromosomes (sSRC). Loss of parentally inherited sSRC containing vital gene content may cause an “unbalanced” karyotype and fetal microdeletion syndromes.
Yiming Wang +5 more
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Identification of a novel microdeletion causative of Nance‐Horan syndrome
Molecular Genetics & Genomic Medicine, 2022 Background Nance‐Horan syndrome (NHS) is a rare X‐linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies.
Mariana Lopez Martinolich +5 more
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Frontiers in Oncology, 2021 Patients with germline neurofibromatosis type 1 (NF1) microdeletions frequently exhibit hereditary syndromes such as cardiovascular anomalies and have an increased risk of malignant peripheral nerve sheath tumors (MPNSTs).
Weijie Li +10 more
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Clinical Case Reports, 2021 Healthcare providers treating newborns with asymmetric cry syndrome should consider 22q11.2 microdeletion within the differential diagnosis list and order appropriate genetic testing.
Yonghong Pang +5 more
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Animal models for human contiguous gene syndromes and other genomic disorders
Genetics and Molecular Biology, 2004 Genomic disorders refer to a group of syndromes caused by DNA rearrangements, such as deletions and duplications, which result in an alteration of normal gene dosage.
Katherina Walz +2 more
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New microdeletion and microduplication syndromes: a comprehensive review
Genetics and Molecular Biology, 2014 Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum ...
Julián Nevado +15 more
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