Search Results - (Author, Cooperation:D. McKean)
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1Latest Papers from Table of Contents or Articles in PressDe novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesJ. Homsy ; S. Zaidi ; Y. Shen ; J. S. Ware ; K. E. Samocha ; K. J. Karczewski ; S. R. DePalma ; D. McKean ; H. Wakimoto ; J. Gorham ; S. C. Jin ; J. Deanfield ; A. Giardini ; G. A. Porter, Jr. ; R. Kim ; K. Bilguvar ; F. Lopez-Giraldez ; I. Tikhonova ; S. Mane ; A. Romano-Adesman ; H. Qi ; B. Vardarajan ; L. Ma ; M. Daly ; A. E. Roberts ; M. W. Russell ; S. Mital ; J. W. Newburger ; J. W. Gaynor ; R. E. Breitbart ; I. Iossifov ; M. Ronemus ; S. J. Sanders ; J. R. Kaltman ; J. G. Seidman ; M. Brueckner ; B. D. Gelb ; E. Goldmuntz ; R. P. Lifton ; C. E. Seidman ; W. K. Chung
American Association for the Advancement of Science (AAAS)
Published 2016Staff ViewPublication Date: 2016-01-20Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Brain/abnormalities/metabolism ; Child ; Congenital Abnormalities/genetics ; Exome/genetics ; Heart Defects, Congenital/*diagnosis/*genetics ; Humans ; Mutation ; Nervous System Malformations/*genetics ; Neurogenesis/*genetics ; Prognosis ; RNA Splicing/genetics ; RNA, Messenger/genetics ; RNA-Binding Proteins/genetics ; Repressor Proteins/genetics ; Transcription, GeneticPublished by: -
2Articles: DFG German National LicensesStaff View
ISSN: 1043-4666Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyMedicineType of Medium: Electronic ResourceURL: -
3Articles: DFG German National LicensesChatterjee-Das, S. ; Schlauder, G. G. ; Sachs, D. H. ; Glimcher, L. H. ; Paul, W. E. ; McKean, D. J.
Springer
Published 1986Staff ViewISSN: 1432-1211Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineType of Medium: Electronic ResourceURL: -
4Articles: DFG German National LicensesStaff View
ISSN: 1435-702XSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract The architecture and distribution of surface mucins were studied qualitatively and quantitatively by transmission electron microscopy in ruthenium red stained biopsies of the human conjunctiva. Six control specimens were compared with three from early keratoconjunctivitis sicca (KCS) and with three specimens from severe KCS cases. The area of the ruthenium red/Os04/mucin reaction product on the conjunctival epithelial surface was measured by image analysis and the values were expressed in μm2 per μm length of epithelium. The total area of surface mucins was differentiated from the narrow zone of mucins in close contact with the microplicae. The value for total mucins in two cases of early KCS was higher (0.4 μm2/μm) than the control range (0.1–0.3 μm2/μm) due to the presence of large clumps of mucins on the surface. The values for microplical mucins in early and severe KCS were within the control range, but were an overestimate owing to the presence of abnormal structures, e.g. vesicles, and abnormal clumps on the surface. This morphometric technique has limitations, but with appropriate material it might be a useful tool for the identification of conjunctival surface mucins.Type of Medium: Electronic ResourceURL: -
5Articles: DFG German National LicensesStaff View
ISSN: 1573-4811Source: Springer Online Journal Archives 1860-2000Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision MechanicsType of Medium: Electronic ResourceURL: -
6Articles: DFG German National LicensesStaff View
ISSN: 0538-8066Keywords: Chemistry ; Physical ChemistrySource: Wiley InterScience Backfile Collection 1832-2000Topics: Chemistry and PharmacologyNotes: An earlier correlation between isolated CH stretching frequencies, visCH, and experimental CH bond dissociation energies, in hydrocarbons, fluorocarbons, and CHO compounds, is updated. A stabilization energy, EvS, which reflects only the properties of the radical, is defined by the deviation of a point from the above correlation. EvS values for a variety of radicals are listed and discussed. In H—C—N and H—C—O compounds EvS is low or negligible, due to the low visCH found in these compounds. The conventional definition of ES then represents a serious misnomer, which distracts attention from the probable source of discrepancies between experimental and ab initio values of DH°(C—H), namely, the parent molecules. Stereo electronic effects concerned with the breaking of CH bonds are predicted in a variety of situations.Some experimental determinations of DH°(C—H), viz., in C2H4, HCOOH, CH3CHO, CH3NH2, are considered to be probably in error.Schemes for partitioning energies of atomization into ‘standard’ or ‘intrinsic’ bond energies are criticized.Additional Material: 4 Ill.Type of Medium: Electronic ResourceURL: -
7Articles: DFG German National LicensesKlimkowski, V. J. ; Pulay, P. ; Ewbank, J. D. ; McKean, D. C. ; Schäfer, Lothar
New York, NY [u.a.] : Wiley-Blackwell
Published 1984Staff ViewISSN: 0192-8651Keywords: Computational Chemistry and Molecular Modeling ; BiochemistrySource: Wiley InterScience Backfile Collection 1832-2000Topics: Chemistry and PharmacologyComputer ScienceNotes: In order to provide additional data for the relative lengths of methyl-C—H bond distances in acetyl derivatives, which are difficult to determine accurately by the conventional tools of structural chemistry, the geometries of CH3COH, CH3COF, CH3COCH3, CH3COOH, and CH3CONH2 were determined by ab initio SCF gradient optimization at the 5-31G** level and compared with previous 4-21G results. For acetaldehyde 6-311G4* calculations were also performed and the correlated methyl-C—H stretching potential energy functions were determined. It is found that the calculated differences between the in-plane and out-of-plane methyl-C—H bonds are practically independent of the computational scheme. The calculated results are in contrast to relative bond lengths obtained by some vibrational overtone spectroscopic studies, but are in perfect agreement with C—H bond length differences determined from isolated C—H stretching frequencies of partially deuterated compounds. The reliability of the latter, and other spectroscopic data concerning the assignment of the methyl-C—H vibrations are critically analyzed. On the basis of the available evidence we conclude: (1) the methyl groups of the CH3C(=O)X systems here discussed contain one strong (in-plane) and two weak (out-of-plane) C—H bonds; (2) intensities of C—H local mode spectra do not provide a reliable basis for assignment to individual bonds.Additional Material: 4 Tab.Type of Medium: Electronic ResourceURL: -
8Articles: DFG German National LicensesMurphy, W. F. ; McKean, D. C. ; Coats, A. M. ; Kindness, A. ; Wilkie, N.
Chichester [u.a.] : Wiley-Blackwell
Published 1995Staff ViewISSN: 0377-0486Keywords: Chemistry ; Analytical Chemistry and SpectroscopySource: Wiley InterScience Backfile Collection 1832-2000Topics: Chemistry and PharmacologyPhysicsNotes: Raman trace scattering intensities are reported for the d0, d3, d6, d8 and d9 deuterated species of trimethylamine. Using normal coordinates from a previous scaled ab initio force field, the data are analysed in terms of seven derivatives ∂α¯∂S in the A1 symmetry species, each of which is well defined. Similar derivatives (dα¯/dr)CH with respect to the stretching of the two kinds of CH bond are shown to be very different from each other, showing a marked effect of the lone pair. Infrared intensities were measured for the d0, d8 and d9 species. These are well reproduced by ab initio calculations at the MP2/6-31G* level. The dipole derivative for the CHS bond trans to the lone pair is much greater than that for the Ha bond in the gauche position. The ab initio atomic polar tensors were used to obtain effective charges and other invariants, and the directions of dμ/dr for the CH bonds were determined. That for the Hs bond lies 23° off the bond direction. The ratio Xa/Xs of the abundances of the Ha and Hs conformers in the d8 isotopomer, required for the above analyses of the spectra, is calculated to be 1.80(4).Additional Material: 2 Ill.Type of Medium: Electronic ResourceURL: