.../by-nc/4.0/ ), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected] Abstract Aase-Smith syndrome type 2 is a rare genetic disorder that affects erythropoiesis...

... SATB2-associated syndrome (SAS) is an autosomal dominant genetic disorder caused by pathogenic variations in the special AT-rich sequence-binding protein 2 (SATB2) gene. In addition to neurodevelopmental and craniofacial defects, over 90% of patients with SAS manifest biochemical...

.... Each genetic disorder is indicated by different patterns. The external genitalia were assessed by the Quigley scale. Müllerian derivatives were examined by pelvic magnetic resonance imaging or ultrasonography. The total number of patients is indicated at the top of each column. Twelve families (6.7...

.../ ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder that affects cholesterol synthesis and causes various physical and mental abnormalities. The case is a 25...

... on preconception carrier screening and collaborated with the VSOP Dutch Genetic Alliance (patient umbrella organization on rare and genetic disorders). L.H. and C.v.E. are affiliated with Amsterdam University Medical Centre, a hospital that offers ECS in a non-commercial setting. R.V. received honoraria...

... Fontan circulation Univentricular heart Long term complications Genetic disorder Noonan spectrum Abstract Background Patients with a univentricular heart form a morphological heterogenous group of patients at the most severe end of the congenital heart disease (CHD) spectrum. Over the past...

... ( https://creativecommons.org/licenses/by-nc/4.0/ ), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected] Abstract STUDY QUESTION Are genetic disorders...

... [email protected] Keywords CD4 T-cell CD4 deficiency genetic disorder double negative T-cell ( See the Major Article by Lisco et al, on pages 645–54 .) In healthy individuals, the role of CD4 helper T (Th) cells is to protect the host from pathogens while preventing excessive inflammation to avoid...

... manifestation of a sterilizing sperm tail disorder in breeding boars. sperm flagella defect impaired male fertility polypyrimidine tract exon skipping genetic disorder Genetics of Sex Artificial insemination is the most frequent method of breeding in pigs. The semen of breeding boars is collected once...

.... Attardi, E-mail: [email protected] p53 Mdm2 development embryo congenital defect syndrome genetic disorder References Adam , J. , Deans , B. , and Thacker , J. ( 2007 ). A role for Xrcc2 in the early stages of mouse development . DNA Repair 6 , 224 – 234 . Albers...

... This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. Genetic disorder Health burden...

... in mammalian cells—appears to be well conserved throughout eukaryotes, the biological significance of this enzyme has remained elusive until recently. However, discovery of a human genetic disorder involving the NGLY1 gene clearly indicates that this enzyme plays a critical role in human biology...

... to aid the rheumatologist in recognizing the features of these rare genetic disorders. Mucopolysaccharidoses Genetic disorder Glycosaminoglycan Enzyme replacement therapy Haematopoietic stem cell transplantation Correspondence to: Joseph Muenzer, Division of Genetics and Metabolism, Department...

... by the Ank mutation. We believe this new mouse model will facilitate studies of skeletal abnormalities in CMD at cellular and molecular levels. craniometaphyseal dysplasia Ank skeletal phenotype genetic disorder biochemical marker Craniometaphyseal dysplasia (CMD) is characterized...

... type V. Given the rarity of the disorder, treatment studies will require multicenter collaborations. children fractures genetic disorder hyperplastic callus osteogenesis imperfecta Osteogenesis imperfecta (OI) is a heritable disorder characterized by brittle bones. Frequently...

... was first described as familial asphyxiating thoracic dystrophy in a pair of siblings with severely narrow thoracic cage by Jeune et al in 1955. ¹ It is a rare genetic disorder, with a poor survival rate beyond the neonatal period, ² known to be genetically heterogeneous...

... ventricular tachycardia Genetic disorder KCNJ2 mutation-negative Andersen–Tawil Syndrome (ATS) is a heterogeneous autosomal dominant or sporadic disorder characterized by the clinical triad of periodic paralysis, dysmorphic features, and ventricular arrhythmias. ^{1 , 2} While mutations...

... and choice of treatment. acute renal failure genetic disorder haemolytic uraemic syndrome thrombotic microangiopathy von Willebrand factor Thrombotic thrombocytopenic purpura (TTP) and haemolytic uraemic syndrome (HUS) are both categorized within thrombotic microangiopathy (TMA), featured...

... constraining risk for false positives. The performance of our genomic control method is quite good for plausible effects of liability genes, which bodes well for future genetic analyses of complex disorders. Bayesian inference Case-control Complex genetic disorder Outliers Population heterogeneity Single...

... macrohaematuria, intermittent microhaematuria to isolated deafness. The 18 bp in‐frame deletion aggravates the phenotype in the compound heterozygous son. These results give further evidence that BFH and autosomal AS are in fact both type IV collagen diseases. deafness extracellular matrix genetic disorder...