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Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants : An ENIGMA report

Background: PALB2 monoallelic loss-of-function germ-line variants confer a breast cancer risk comparable to the average BRCA2 pathogenic variant. Recommendations for risk reduction strategies in carriers are similar. Elaborating robust criteria to identify loss-of-function variants in PALB2 - without incurring overprediction - is thus of paramount clinical relevance. Towards this aim, we have perf

Cu20Sb35O44Br37 - one structure, two temperature dependencies

The structure of the new compound Cu20Sb35O44Br37 was examined at different temperatures and compared to the previously prepared structural analogue Cu20Sb35O44Cl37. The structure comprises two major units; isolated [Sb35O44Br5]12+ clusters shaped as typical sodalite building blocks (β-cages) and one-dimensional continuous CuBr chains of edge sharing super-tetrahedra. The covalent and ionic buildi

Effect of metal doping on the low-temperature structural behavior of thermoelectric β-Zn 4 Sb 3

The low-temperature structural phase transitions of Bi, Pb, In and Sn-doped samples of thermoelectric Zn 4 Sb 3 have been characterized on crystals grown from molten metal fluxes, using electrical resistance and single crystal X-ray diffraction measurements. Room temperature stable, disordered, β-Zn 4 Sb 3 undergoes two phase transitions at 254 and 235 K to the consecutively higher ordered phases

Occupation waves the way you have never seen them : The orthorhombic quasicrystal approximants RE13Zn58+δ (RE = Ho, Er, Tm, and Lu)

A series of binary quasicrystal approximants RE13Zn 58+δ (RE = Ho, Er, Tm, and Lu) have been prepared, and structural studies were performed by means of single-crystal X-ray diffraction. All four compounds crystallize in the orthorhombic system, but while the Ho-containing compound crystallizes in space group Pcmn, the rest of the compounds crystallize in Pc21n. This work is a continuation of the

Inheritance of the guanidinium chloride structure in two molybdenum (II) chloride salts

Depending on the proticity of the solvent, two different salts may be crystallized from the combination of solutions of guanidinium chloride, C(NH2)3Cl, and the acidic hydrate of molybdenum dichloride, [(Mo6Cl8)Cl6](H20 O9). From aprotic solvents such as dimethyl sulfoxide (DMSO) or formamide (FA), compound I, [(Mo6Cl8) Cl6]Cl6(C(NH2)3)8, crystallizes, while from protic solvents such as ethanol or

Comparative structural study of the disordered MCd6 quasicrystal approximants

Several of the MCd6 approximants (M=Pr, Nd, Sm, Eu, Gd, Dy, Yb, Y, and Ca) to the MCd5.7 quasicrystals (M=Yb and Ca) have been synthesized and their structures have been refined from single-crystal x-ray-diffraction data; the different types of disorder of the central Cd4 tetrahedra located in the dodecahedral cavities of these closely related compounds have been examined and mutually compared. A

Revolutionen : ett högt pris för kopternas frihet

120 kristna mördades, 128 kidnappades, det genomförde 146 attacker mot kyrkor och 700 kristna familjer tvingades fly sina hem under 2013. Detta var priset för att Muslimska Brödraskapet utövade makten i Egypten under ett år. Ett högt pris för kristna i Egypten men kan inte jämföras med andra länder i regionen.

It was not a hip fracture – you were lucky this time – or perhaps not! A prospective study of clinical outcomes in patients with low-energy pelvic fractures and hip contusions

Introduction: Prehospital and hospital emergency care guidelines have been developed for patients with suspected hip fracture. Initial radiography can identify a number of patients with other injuries, generally pelvic fractures and hip contusions. Little is known about the prognosis for these patients. The aim of this study is twofold: i) to investigate the injury pattern of patients assessed in

Measuring Institutions : What We Do Not Know

The last two decades have seen a significant increase in the number and quality of cross-national measures of institutions, which are also covering longer and longer time spans. However, despite the considerable progress that has been made, important measurement issues linger. This chapter argues that the key future challenge for the measurement of institutions is how to square objective or direct

Stochastic Theory of Continuous-Time State-Space Identification

Presents theory, algorithms and validation results for system identification of continuous-time state-space models from finite input-output sample sequences. The algorithms developed are methods of subspace model identification and stochastic realization adapted to the continuous-time context. The resulting model can be decomposed into an input-output model and a stochastic innovations model. Usin

Structure of Ca13Cd76 : A novel approximant to the MCd5.7 Quasicrystals (M = Ca, Yb)

The closest cubic approximant to the MCd5.7 (M = Ca, Yb) quasicrystals known so far, namely Ca13Cd76, was obtained by high-temperature reaction of the elements. It exhibits a new type of structure for intermetallic compounds with an unprecedented arrangement of triacontahedral clusters (see structure), which could prove useful in modeling the structures of the MCd5.7 quasicrystals.

Second cancers and causes of death in patients with testicular cancer in Sweden

While treatment for testicular cancer (TC) has become standardized after the 1980s with an associated significant improvement in patient survival, this has been accompanied by an increased risk of second primary cancers (SPCs). Patients were identified from the Swedish Cancer Registry spanning the years from 1980 to 2015, including 8788 individuals with primary TC and their SPCs. Relative risks (R