Search results for "facies"
showing 10 items of 232 documents
Carbonate slope re‐sedimentation in a tectonically‐active setting (Western Sicily Cretaceous Escarpment, Italy)
2020
Tectonic processes are widely considered as a mechanism causing carbonate platform margin instabilities leading to the emplacement of mass transport deposits and calciturbidites. However, only few examples establishing a clear link between tectonics and re-sedimentation processes are known from the lit- erature. The two-dimensional and three-dimensional wire-cut walls of hun- dreds of quarries extracting ornamental limestones (for example, Perlato di Sicilia) from the Western Sicily Cretaceous Escarpment in Italy expose a series of mass transport deposits. The depositional architecture, spatial facies distri- bution and sedimentary features of these deposits were studied in detail. Thin sec…
Multistratigraphic records of the Lower Cretaceous (Valanginian–Cenomanian) Puez key area in N. Italy
2016
Abstract We present a stratigraphic investigation of a Hauterivian to Cenomanian hemipelagic succession from Col Puez, in the Dolomites (Southern Alps, northern Italy). A composite section of seven segments was studied with bio-, magneto-, and chemostratigraphy, which enabled detailed and robust age calibration of the Puez succession. It also revealed the paleoceanographic history and helped identify the important global climatic events of that period. The age of the Lower Cretaceous Puez Formation in the Dolomites is refined as late Hauterivian to early Cenomanian. Ammonoids provide a detailed biostratigraphic subdivision that forms the basis for analyses of the faunal distribution and the…
An enigmatic marine reptile, Hispaniasaurus cranioelongatus (gen. et sp. nov.) with nothosauroid affinities from the Ladinian of the Iberian Range (S…
2017
An incomplete skull of a marine reptile with an atypical elongation of the postorbital region is described. The find comes from the Muschelkalk facies (Cañete Formation) of the Villora section (Iberian Range, Cuenca Province, Spain), characterised by a shallow marine (intertidal) environment and dated as Ladinian in age. The small skull has a rectangular shape, lacking, as preserved, upper temporal openings and a parietal foramen. The upper temporal openings might be secondarily closed. However, the absence of a parietal foramen and squamosals in the preserved part and the incompleteness of the pterygoids make a posteriorly postponed location of the upper temporal openings also conceivable.…
The shear strength of Opalinus Clay shale in the remoulded state
2020
Abstract The Opalinus Clay shale formation is considered as a potential host geomaterial for the Swiss deep geological repository for radioactive waste. It presents different facies and it is characterised by a multi-scale heterogeneous composition, by a typical fissile structure with well-defined bedding planes and by anisotropic hydro-mechanical behaviour. This peculiar complexity makes it difficult to assign a unique set of geomechanical parameters to the material. This paper presents an experimental study aimed at characterising the lowest values of the shear strength parameters. In this sense, the shear behaviour was investigated on remoulded samples where the fabric and the diagenetic…
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance
2018
IF 2.264; International audience; The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. This work aimed to identify molecular bases for the OAFNS. Among a cohort of 130 patients with frontonasal dysplasia, accurate phenotyping identified 18 individuals with OAFNS. We describe their clinical spectrum, including the report of new features…
A recurrent TP63 mutation causing EEC3 and Rapp–Hodgkin syndromes
2016
The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blo…
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
2013
In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a marfanoid habitus. ZDHHC9 encodes a palmitoyl transferase that catalyzes the posttranslational modification of NRAS and HRAS. Since this first description, no additional patient with a ZDHHC9 mutation has been reported in the literature. Here, we describe a large family in which we identified a novel pathogenic ZDHHC9 nonsense mutation (p.Arg298*) by parallel sequencing of all X-chromosome exons. The mutation cosegregated with the clinical phenotyp…
NDST1 missense mutations in autosomal recessive intellectual disability.
2014
NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in …
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psych…
2013
Abstract: Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but ha…
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary toVPS13Bmutations
2013
Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two VPS13B splicing mutations with an atypical phenotype that included microcephaly, retinopathy, and congenital neutropenia, but neither obesity nor ID. RNA analysis of the IVS34+2T_+3AinsT mutation did not reveal any abnormal splice fragments but mRNA quantification showed a significant decrease in VPS13B expression. RNA sequencing analysis up- and downstream from the IVS57+2T>C…