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Clinical Genetics
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#1He-da Zhang (Nanjing Medical University)H-Index: 6
#2Lin-hong Jiang (Nanjing Medical University)H-Index: 8
Last. Jinhai Tang (Nanjing Medical University)H-Index: 31
view all 9 authors...
Long non-coding RNAs (lncRNAs), a class of long RNAs, are longer than 200 nucleotides in length but lack protein-coding capacity. LncRNAs, as critical genomic regulators, are involved in genomic imprinting regulation, histone modification and gene expression regulation as well as tumor initiation and progression. However, it is also found that lncRNAs are associated with drug resistance in several types of cancer. Drug resistance is an important reason for clinical chemotherapy failure, and the ...
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#1Nadine Hamdan (""St. Joe's"": Saint Joseph's University)
#2Cybel Mehawej (""St. Joe's"": Saint Joseph's University)
Last. Eliane Chouery (""St. Joe's"": Saint Joseph's University)H-Index: 29
view all 8 authors...
Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in both intellectual and behavioral functioning. It can occur in non-syndromic and syndromic forms involving multiple organs. While the majority of genetic variants linked to ID are de novo, inherited variants are also detected in some forms. Here we report a consanguineous Lebanese family presenting with an autosomal recessive syndromic ID characterized by neurodevelopmental delay, mild dysmorphic feature...
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#1Stephanie Waich (University of Vienna)
#2Andreas R. Janecke (University of Innsbruck)H-Index: 13
Last. Julia Vodopiutz (Medical University of Vienna)H-Index: 9
view all 8 authors...
Biallelic loss-of-function mutations in the centrosomal pericentrin gene (PCNT) cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII), which is characterized by extreme growth retardation, microcephaly, skeletal dysplasia, and dental anomalies. Life expectancy is reduced due to a high risk of cerebral vascular anomalies. Here, we report two siblings with MOPDII and attenuated growth restriction, and pachygyria. Compound heterozygosity for two novel truncated PCNT variants was ...
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Nucleotide Excision Repair associated diseases comprise overlapping phenotypes and a wide range of outcomes. The early stages still remain under-investigated and underdiagnosed, even though an early recognition of the first symptoms is of utmost importance for appropriate care and genetic counselling. We systematically collected clinical and molecular data from the literature and from newly diagnosed NER patients with neurological impairment, presenting clinical symptoms before the age of 12 mon...
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#1Eleanor Hay (GOSH: Great Ormond Street Hospital)
#2Robert H. Henderson (GOSH: Great Ormond Street Hospital)H-Index: 13
Last. Mariya Moosajee (GOSH: Great Ormond Street Hospital)H-Index: 13
view all 10 authors...
Structural eye disorders are increasingly recognised as having a genetic basis, although current genetic testing is limited in its success. De novo missense variants in WDR37 are a recently described cause of a multisystemic syndromic disorder featuring ocular coloboma. This study characterizes the phenotypic spectrum of this disorder and reports 2 de novo heterozygous variants (p.Thr115Ile, p.Ser119Tyr) in three unrelated Caucasian individuals. All had a clinical phenotype consisting of bilater...
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Diagnostic yield of genetic studies for Charcot-Marie-Tooth disease (CMT) is little known, with a lack of epidemiological data to build better diagnostic strategies outside the US and Europe. We aimed to evaluate the performance of two molecular diagnostic strategies for patients with CMT, and to characterize epidemiological findings of these conditions in southern Brazil. We performed a single-center cross-sectional study, in which 94 patients (55 families) with CMT suspicion were evaluated. Ov...
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#1Roya Ramezankhani (Katholieke Universiteit Leuven)
#2Neda Minaei (Academic Center for Education, Culture and Research)
Last. Catherine M. Verfaillie (Katholieke Universiteit Leuven)H-Index: 78
view all 8 authors...
The fact that monogenic diseases are related to mutations in one specific gene, make gene correction one of the promising strategies in the future to treat genetic diseases or alleviate their symptoms. From this perspective, and along with recent advances in technology, genome editing tools have gained momentum and developed fast. In fact, clustered regularly interspaced short palindromic repeats-associated protein 9 (CRISPR/Cas9), transcription activator-like effector nucleases (TALENs), and zi...
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#1Luiza Monteavaro Mariath (UFRGS: Universidade Federal do Rio Grande do Sul)H-Index: 2
#2Juliana Tosetto Santin (UFRGS: Universidade Federal do Rio Grande do Sul)H-Index: 1
Last. Ana Elisa Kiszewski (UFCSPA: Universidade Federal de Ciências da Saúde de Porto Alegre)H-Index: 8
view all 6 authors...
Congenital absence of skin (CAS) is a clinical sign associated with the main types of epidermolysis bullosa (EB). Very few studies have investigated the genetic background that may influence the occurrence of this condition. Our objective was to investigate genotype-phenotype correlations on EB with CAS through a literature revision on the pathogenic variants previously reported. A total of 171 cases (49 EB simplex, EBS; 23 junctional EB, JEB; and 99 dystrophic EB, DEB), associated with 132 path...
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#1Viviana Cordeddu (ISS: Istituto Superiore di Sanità)H-Index: 14
#2Erica L. Macke (UR: University of Rochester)
Last. Alessandro Bruselles (ISS: Istituto Superiore di Sanità)H-Index: 17
view all 27 authors...
: 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 reported thus far, with 31 cases having intragenic UBE2A variants. Here, we report on additional eight affected subjects from seven unrelated families who were found to be hemizygous for previously unreported UBE2A missense...
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#1Fuying Chen (SJTU: Shanghai Jiao Tong University)H-Index: 1
#2Lin-ting Huang (SJTU: Shanghai Jiao Tong University)H-Index: 1
Last. Jinwen Shen (SJTU: Shanghai Jiao Tong University)H-Index: 1
view all 12 authors...
Epidermolysis bullosa (EB) is a heritable blistering disorder. We performed a next-generation sequencing-based multi-gene panel test and successfully predicted 100% of the EB types, including 36EB simplex (EBS), 13 junctional EB (JEB), 86 dystrophic EB (DEB), and 3 Kindler EB (KEB). Chinese JEB and recessive DEB (RDEB) patients have relatively mild phenotypes; for severe type separately accounts for 45.5% and 23.8%, respectively. We identified 96 novel and 49 recurrent pathogenic variants in 11 ...
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