Search results for "–O"

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

2016

International audience; Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al., Dinwiddie et al, Srivastava et al. and Hori et al.). In this re…

Parental effects on offspring longevity--evidence from 17th to 19th century reproductive histories.

2004

Family studies provide support for a modest genetic influence on offspring life span, although the magnitude of these correlations is small.The study aimed to clarify the relative contributions of parental age at birth and overall parental longevity on offspring lifespan, and to identify the biological and cultural mechanisms.Information was derived from two village genealogies (1650-1927) encompassing 9979 births (5315 males, 4664 females). Data selection was guided by the inclusion of information about parental age at birth and lifespan, offspring lifespan and cohort-specific life expectancy.Parental age at reproduction displayed a negative association with offspring survivability, which …

Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome.

1992

Summary We describe an 18-month-old boy with multifocal scalp defects over the posterior parietal region combined with an underlying defect of the skull, left lower limb distal hemimelia and generalized cutis marmorata telangiectatica, consistent with a diagnosis of Adams–Oliver syndrome (aplasia cutis congenita with distal transverse limb defects).

Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies

2015

Background— Adams–Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected subjects, the underlying molecular defect remains unresolved. This study aimed to identify novel genetic determinants of AOS. Methods and Results— Whole-exome sequencing was performed for 12 probands, each with a clinical diagnosis of AOS. Analyses led to the identification of novel heterozygous truncating NOTCH1 mutations (c.1649dupA and c.6049_6050delTC) in 2 kindreds in which AOS was segregat…

A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome

2005

Introduction: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis, resulting from deficient 7-dehydrocholesterol reductase (3β-hydroxysterol Δ7-reductase) activity, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. SLOS is most common among people of European descent, with a reported incidence of 1 per 20 000–60 000 newborns, depending on the diagnostic criteria and the reference population. More than 80 different mutations have been identified in several hundred patients. In Italy, SLOS appears to be a rare condition, probably because of underdiagnosis. Method: We analyzed by direct sequencing the 7-dehydrocholesterol…

Mathematical Model Predicts Clinical Ocular Motor Syndromes

2003

: Clinical ocular motor syndromes were compared with ocular motor syndromes simulated by a mathematical model of the vestibuloocular reflex. The mathematical sensorimotor feedforward model of otolith control of three-dimensional binocular eye position is based on relevant anatomical connections of the vestibuloocular reflex from the utricles to extraocular eye muscles. This is the first attempt to simulate static ocular motor syndromes for unilateral utricular or vestibular nerve failure, lesions of the vestibular nucleus, and lesions of the ascending vestibuloocular reflex pathways. Comparison of the predicted syndromes with those found in patients with unilateral disorders of the vestibul…

Synthesis of Densely Packaged, Ultrasmall Pt02Clusters within a Thioether-Functionalized MOF: Catalytic Activity in Industrial Reactions at Low Tempe…

2018

The gram-scale synthesis, stabilization, and characterization of well-defined ultrasmall subnanometric catalytic clusters on solids is a challenge. The chemical synthesis and X-ray snapshots of Pt02 clusters, homogenously distributed and densely packaged within the channels of a metal-organic framework, is presented. This hybrid material catalyzes efficiently, and even more importantly from an economic and environmental viewpoint, at low temperature (25 to 140 °C), energetically costly industrial reactions in the gas phase such as HCN production, CO2 methanation, and alkene hydrogenations. These results open the way for the design of precisely defined catalytically active ultrasmall metal c…

Thickness dependence of anomalous Hall conductivity in L10-FePt thin film

2019

L10 ordered alloys are ideal models for studying the anomalous Hall effect (AHE), which can be used to distinguish the origin from intrinsic (from band structure) or from extrinsic effects (from impurity scatterings). In the bulk limit of L10 ordered FePt films, the AHE is considered to be dominated by the intrinsic contribution, which mainly comes from the strong spin-orbit interaction (SOI) of Pt atoms and exchange-splitting of Fe atoms. The study of anomalous Hall conductivity (AHC) of L10-FePt thin films is of particular interest for its application in spintronic devices. In order to reduce the effects of defects such as grain boundaries, we chose SrTiO3 as the substrate which has a ver…

Interplay Between Spin-Orbit Coupling and Structural Deformations in Heavy Transition-Metal Oxides with Tetrahedral Coordination

2018

Charge-transfer interactions between fullerenes and a mesoporous tetrathiafulvalene-based metal–organic framework

2019

The design of metal–organic frameworks (MOFs) incorporating electroactive guest molecules in the pores has become a subject of great interest in order to obtain additional electrical functionalities within the framework while maintaining porosity. Understanding the charge-transfer (CT) process between the framework and the guest molecules is a crucial step towards the design of new electroactive MOFs. Herein, we present the encapsulation of fullerenes (C60) in a mesoporous tetrathiafulvalene (TTF)-based MOF. The CT process between the electron-acceptor C60 guest and the electron-donor TTF ligand is studied in detail by means of different spectroscopic techniques and density functional theor…