Clinical Genetics
Papers 8,819
1 page of 882 pages (8,819 results)
#1Naama OrensteinH-Index: 10
Last. Lina Basel-SalmonH-Index: 11
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A family with DYRK1B LOF variant offering to expand the phenotype beyond the metabolic syndrome.
#1Chiara Ticci (Boston Children's Hospital)
#2Claudia NestiH-Index: 26
Last. Filippo M. SantorelliH-Index: 71
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Bi-allelic alterations in the MDH2 gene have recently been reported in three unrelated toddlers with early-onset severe encephalopathy. Here we describe a new case of a child carrying novel variants in MDH2. This child presented with early-onset encephalocardiopathy requiring heart transplant and showed cerebellar ataxia and drug-responsive epilepsy; his family history was significant for multiple cancers, a feature often associated with monoallelic variants in MDH2. Functional studies in cultur...
#1Wanqi Huang (CMU: China Medical University)
#2Hui Gu (CMU: China Medical University)
Last. Zhengwei Yuan (CMU: China Medical University)
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Neural tube defects (NTDs) are the most severe birth defects and the main cause of newborn death; posing a great challenge to the affected children, families, and societies. Presently, the clinical diagnosis of NTDs mainly relies on ultrasound images combined with certain indices, such as alpha-fetoprotein levels in the maternal serum and amniotic fluid. Recently, the discovery of additional biomarkers in maternal tissue has presented new possibilities for prenatal diagnosis. Over the past 20 ye...
#1Umut Altunoglu (Istanbul University)H-Index: 16
#2Esra Börklü (Koç University)
Last. Hülya Kayserili (Koç University)H-Index: 70
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Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotype with extragonadal manifestations (GDRM, MIM# 618419) in patients from four unrelated families, whereas heterozygous variants have been linked to reduced fertility with teratozoospermia (SPGF36, MIM# 618420) in male carriers. We present eight patients from four unrelated families of Turkish and Indian descent with three different germline homozygous PPP2R3C variants including a novel...
#1Jennifer A. Hanson (BCM: Baylor College of Medicine)H-Index: 5
#2Daniel Brezavar (BCM: Baylor College of Medicine)H-Index: 2
Last. Penelope E. Bonnen (BCM: Baylor College of Medicine)H-Index: 25
view all 8 authors...
Congenital heart defects (CHD) are the most commonly occurring birth defect and can occur in isolation or with additional clinical features comprising a genetic syndrome. Autosomal dominant variants in TAB2 are recognized by the American Heart Association as causing nonsyndromic CHD, however, emerging data point to additional, extra-cardiac features associated with TAB2 variants. We identified 15 newly reported individuals with pathogenic TAB2 variants and reviewed an additional 24 subjects with...
#1Katherine A. Wood (University of Manchester)H-Index: 4
#2Jamie M Ellingford (University of Manchester)H-Index: 12
Last. William G. Newman (University of Manchester)H-Index: 65
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The developmental disorder Burn-McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofacial features. BMKS is caused by biallelic variants in the pre-messenger RNA splicing factor TXNL4A. Most patients have a loss-of-function variant in trans with a 34-base pair (bp) deletion (type 1 Δ34) in the promoter region. Here, we identified two patients with BMKS. One individual has a TXNL4A c.93_94delCC, p.His32Argfs *21 variant combined with a type 1 Δ34 promoter deletion. The...
#1Servi J. C. Stevens (MUMC: Maastricht University Medical Centre)H-Index: 27
#2Constance T. R. M. Stumpel (MUMC: Maastricht University Medical Centre)H-Index: 14
Last. Han G. Brunner (Radboud University Nijmegen)H-Index: 122
view all 15 authors...
The caudal type homeobox 2 (CDX2) gene encodes a developmental regulator involved in caudal body patterning. Only three pathogenic variants in human CDX2 have been described, in patients with persistent cloaca, sirenomelia and/or renal and anogenital malformations. We identified five patients with de novo or inherited pathogenic variants in CDX2 with clinical phenotypes that partially overlap with previous cases, that is, imperforate anus and renal, urogenital and limb abnormalities. However, ad...
#1Thorkild Terkelsen (OUH: Odense University Hospital)
#2Charlotte Brasch-Andersen (SDU: University of Southern Denmark)H-Index: 19
Last. Christina R. Fagerberg (OUH: Odense University Hospital)
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The YTH domain family member 3 gene (YTHDF3) encodes a reader of the abundant N6-methyladenosine (m6 A) modification of eukaryotic mRNA, which plays an essential role in regulating mRNA stability and is necessary to achieve normal development of the central nervous system in animal models. YTHDF3 has not previously been implicated in Mendelian disease despite a high probability of loss of function intolerance and statistical evidence of enrichment for gene-disruptive de novo variants in large-sc...
#1Lavanya Jain (Clemson University)H-Index: 2
#2Lindsay M. Oberman (HJF: Henry M. Jackson Foundation)H-Index: 31
Last. Luigi Boccuto (Clemson University)H-Index: 22
view all 15 authors...
Phelan-McDermid syndrome (PMS) (OMIM*606232) is a rare genetic disorder characterized by intellectual disability, autistic features, speech delay, minor dysmorphia, and seizures. This study was conducted to investigate the prevalence of seizures and the association with genetic and metabolic features since there has been little research related to seizures in PMS. For 57 individuals, seizure data was collected from caregiver interviews, genetic data from existing cytogenetic records and Sanger s...
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