期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (6)
Background: DKC1, the dyskerin encoding gene, functions in telomerase activity and telomere maintenance. DKC1 mutations cause a multisystem disease, d......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (7)
Background: In the occurrence and development of colorectal cancer, p53 is an important regulator downstream of the MAPK signaling pathway and plays a......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (9)
Background: Complex chromosomal rearrangements (CCRs) are associated with high reproductive risk, infertility, abnormalities in offspring, and recurre......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (9)
Purpose: To expand the mutation spectrum of patients with familial exudative vitreoretinopathy (FEVR) disease. Participants: 74 probands (53 families ......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (12)
Background: Nephronophthisis type 12 (NPHP 12) is a rare cilia-related cystic kidney disease, caused by TTC21B mutation, mainly involving the kidneys,......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (8)
Background: Noninvasive prenatal testing (NIPT) has been widely used clinically to detect fetal chromosomal aneuploidy with high accuracy rates, gradu......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (12)
Background: Focal cortical dysplasia type 2 (FCD2) is a malformation of cortical development that constitutes a common cause of pediatric focal epilep......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (7)
Background: Noninvasive prenatal diagnosis (NIPD) based on cell-free DNA (cfDNA) has been introduced into the clinical application for some monogenic ......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (12)
Background: Cohen syndrome (CS; OMIM 216550) is a rare syndrome with evident clinical heterogeneity. The diverse phenotype comprises early-onset hypot......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (1)
Background: Malignant transformation of fibrous dysplasia (FD) is very rare and little is known about this occurrence. Methods: We present the detaile......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (7)
Background: Ovarian and breast cancers are known to have significant genetic components. Considering the differences in the mutation spectrum across e......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (9)
Background: To investigate the interchromosomal effect (ICE) in chromosome translocation carriers. Methods: Data on preimplantation genetic testing an......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (3)
Background: The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations a......
期刊： MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (3)
Ehlers-Danlos syndromes (EDSs) are a group of rare monogenic conditions with strong heterogeneity and can be caused by 20 genes associating with the e......
