bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital malformations co‐occurring with hypospadias in California, 1983–1997
Authors: Yang Wei , Carmichael Suzan L. , Shaw Gary M. 
Published: October 2007

AbstractInvestigations for co‐occurring malformations can serve as a first step to discover new risk factors and provide insights into malformation etiologies. Our objective was to explore the risks of occurrence of structural congenital malformation phenotypes in 5,481 infants with hypospadias, using data from a population‐based active surveillance system. Ascertainment was performed among 1,816,258 liveborn and 12,203 stillborn male offspring of women who were residents of registry counties during 1983–1997. Malformations other than hypospadias were grouped according to the 3‐ and 4‐digit BPA malformation codes. Prevalences of each malformation grouping were calculated among all births with hypospadias and their three subgroups and all births without hypospadias but with another structural malformation. Relative risks were estimated based on the ratio of two prevalences, and the corresponding 95% confidence intervals were computed using Poisson regression models. Observed relative risks indicated that all malformation groupings were less likely to co‐occur with hypospadias and their three subgroups than with other types of malformations, with relative risks ranging from 0.04 to 0.93. For most malformations, risks were relatively similar among all births with hypospadias and the three subgroups of hypospadias. The observed relative risks were not substantially changed in analyses that adjusted for maternal age, race/ethnicity, and parity. Computations were extended to 4‐digit level BPA codes. Almost all observed relative risks for malformations co‐occurring with hypospadias overall and three subgroups were less than 1. © 2007 Wiley‐Liss, Inc.
A case of autism with an interstitial 1q deletion (1q23.3‐24.2) and a de novo translocation of chromosomes 1q and 5q
Authors: Della Monica Matteo , Lonardo Fortunato , Faravelli Francesca , Pierluigi Mauro , Luquetti Daniela Varela , De Gregori Manuela , Zuffardi Orsetta , Scarano Gioacchino 
Published: October 2007

AbstractChromosomal abnormalities may cause autism by disrupting a gene or by providing a permissive genetic environment for mutations elsewhere in the genome to become expressed as autism. We report here on a patient with an apparently balanced de novo translocation of chromosomes 1q and 5q. He presented with minor dysmorphic features and renal malformations, mental retardation, and autism. Further characterization of the chromosomal rearrangement by FISH revealed a deletion in chromosome 1 from q23.3 to q24.2 corresponding to a region of rising interest in the research of autism susceptibility genes. The array‐CGH technique gave better resolution of the breakpoints and the size of the deletion was calculated to be 4.97 Mb. © 2007 Wiley‐Liss, Inc.
Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family
Authors: Jakobsen Linda P. , Ullmann Reinhard , Kjaer Klaus W. , Knudsen Mary A. , Tommerup Niels , Eiberg Hans 
Published: October 2007

AbstractCleft lip and/or palate (CL/P) is a common congenital malformation with a complex etiology, as many genes and environmental factors have been shown to play a role in craniofacial development. We used a genetic mapping approach to analyze a family with multiplex CL/P. A genome‐wide scan with a 10 kb single nucleotide polymorphism (SNP) chip followed by fine mapping with microsatellite markers in a CL/P multiplex family suggested linkage (maximum multipoint LOD score of 2.41) to a 6.5 Mb interval at 1q32.1‐q32.2. This interval was close to, but excluded IRF6. Mutations in the IRF6 (1q32.2) cause syndromic forms of CL/P, and several association studies have shown that polymorphisms in and around IRF6 are associated with non‐syndromic CL/P (NSCLP). However, in the family described here, IRF6 was excluded from the linkage interval. Sequencing of selected genes in the interval and comparative genome hybridization (CGH) did not reveal any mutations or genomic aberrations. Our data suggest that an unidentified CL/P gene, or a non‐coding IRF6 regulatory element in this linkage interval may have caused CL/P in this family. © 2007 Wiley‐Liss, Inc.
Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation
Authors: Borg Katarzyna , Nowakowska Beata , Obersztyn Ewa , Cheung Sau Wai , Brycz‐Witkowska Joanna , Korniszewski Lech , Mazurczak Tadeusz , Stankiewicz Paweł , Bocian Ewa 
Published: October 2007

AbstractComplex chromosome rearrangements (CCRs) are rare structural abnormalities that involve at least two chromosomes and more than two breakpoints and are often associated with developmental delay, mental retardation, and congenital anomalies. We report on a de novo, apparently balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) involving three chromosomes in a 7‐year‐old boy with severe psychomotor retardation, neonatal muscular hypertonia, congenital heart defect, polysyndactyly of hands and feet, and dysmorphic features resembling Greig cephalopolysyndactyly syndrome. Analysis of the chromosome breakpoints using fluorescence in situ hybridization (FISH) with locus‐specific BAC clones and long‐range PCR products did not identify chromosome imbalance at any of the interrogated regions. High‐resolution comparative genomic hybridization (HR‐CGH) and array CGH (aCGH) revealed two additional cryptic de novo deletions, del(1)(p31.1p31.1) and del(7)(p14.1p14.1), respectively, that are not associated with the translocation breakpoints. FISH and polymorphic marker analyses showed that the deletion on derivative chromosome 1 is between 4.2 and 6.1 Mb, and the deletion on derivative chromosome 7 is approximately 5.1 Mb, and that both are paternal in origin. The deletion on chromosome 7p encompasses theGLI3gene that is causative for the Greig cephalopolysyndactyly, Pallister–Hall and some cases of Acrocallosal syndromes. We discuss the potential mechanisms of formation of the described CCR. © 2007 Wiley‐Liss, Inc.
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability
Authors: Nakashima Eiji , Tran Joseph R. , Welting Tim J.M. , Pruijn Ger J.M. , Hirose Yuichiro , Nishimura Gen , Ohashi Hirofumi , Schurman Shepherd H. , Cheng Jun , Candotti Fabio , Nagaraja Ramaiah , Ikegawa Shiro , Schlessinger David 
Published: October 2007

AbstractCartilage hair hypoplasia (CHH; MIM 250250) is an autosomal recessive disease with diverse clinical manifestations. It is caused by mutations in RMRP gene, the RNA component of the ribonucleoprotein complex RNase MRP. Mutations in RMRP have been found in patients in the core promoter region or in the transcribed region, but the pathogenetic effect of the mutations is unclear. Real‐time PCR assays confirmed that both promoter (c.−16_−1 dup and c.−15_+2 dup) and transcribed mutations (c.168G > A and c.218A > G) lower the expression level of RMRP. Experiments with 5′RACE, showed that the reduced transcription in the promoter mutants was accompanied by shifting of the transcription initiation sites to nucleotides 5′‐upstream of the authentic site. Low levels of RMRP expression levels with transcript mutations were also seen when constructs encoding the wild‐type and mutant genes were transfected into cultured cells. The reduced transcription was correlated with greater instability of mutant RMRP transcripts compared to controls. A comparable reduction was seen when a mouse gene containing the c.70A > G mutation (the major mutation in humans with CHH) was introduced into ES cells in place of one of the wild‐type alleles. The low expression level of the c.70A > G Rmrp RNA was confirmed by expression assays into cultured cells, and was again correlated with RNA instability. Our results indicate that a loss of mutant RNA transcripts is a critical feature of pathogenesis. © 2007 Wiley‐Liss, Inc.
Molar enamel thickness and dentine horn height in Gigantopithecus blacki
Authors: Olejniczak A.J. , Smith T.M. , Wang W. , Potts R. , Ciochon R. , Kullmer O. , Schrenk F. , Hublin J.‐J. 
Published: October 2007

AbstractAbsolutely thick molar enamel is consistent with large body size estimates and dietary inferences about Gigantopithecus blacki, which focus on tough or fibrous vegetation. In this study, 10 G. blacki molars demonstrating various stages of attrition were imaged using high‐resolution microtomography. Three‐dimensional average enamel thickness and relative enamel thickness measurements were recorded on the least worn molars within the sample (n = 2). Seven molars were also virtually sectioned through the mesial cusps and two‐dimensional enamel thickness and dentine horn height measurements were recorded. Gigantopithecus has the thickest enamel of any fossil or extant primate in terms of absolute thickness. Relative (size‐scaled) measures of enamel thickness, however, support a thick characterization (i.e., not “hyper‐thick”); G. blacki relative enamel thickness overlaps slightly with Pongo and completely with Homo. Gigantopithecus blacki dentine horns are relatively short, similar to (but shorter than) those of Pongo, which in turn are shorter than those of humans and African apes. Gigantopithecus blacki molar enamel (and to a lesser extent, that of Pongo pygmaeus) is distributed relatively evenly across the occlusal surface compared with the more complex distribution of enamel thickness in Homo sapiens. The combination of evenly distributed occlusal enamel and relatively short dentine horns in G. blacki results in a flat and low‐cusped occlusal surface suitable to grinding tough or fibrous food objects. This suite of molar morphologies is also found to varying degrees in Pongo and Sivapithecus, but not in African apes and humans, and may be diagnostic of subfamily Ponginae. Am J Phys Anthropol, 2008. © 2007 Wiley‐Liss, Inc.
Natürliche Pyrrolidinylspirooxindole als Vorlagen für die Entwicklung medizinischer Wirkstoffe
Authors: Galliford Chris V. , Scheidt Karl A. 
Published: October 2007

AbstractDas 3,3′‐Pyrrolidinylspirooxindol‐System ist ein privilegiertes heterocyclisches Strukturmotiv, das die zentrale Einheit bei einer großen Familie von natürlichen Alkaloiden mit starken Bioaktivitätsprofilen und interessanten Struktureigenschaften bildet. Neue bedeutende Fortschritte bei der Synthese dieses kondensierten heterocyclischen Systems haben ein starkes Interesse an der Entwicklung verwandter Verbindungen als mögliche Wirkstoffe oder biologische Sonden hervorgerufen.
Studies on the steady and dynamic rheological properties of poly(dimethyl‐siloxane) filled with calcium carbonate based on superposition of its relative functions
Authors: Xu Xiaoming , Tao Xiaole , Gao Chuanhua , Zheng Qiang 
Published: October 2007

AbstractThe steady and dynamic rheological properties of hydroxyl‐terminated polydimethylsiloxane filled with calcium carbonate were investigated by varying the filler volume fraction (Φ) from 0 to 18.2 vol %. The results reveal that there exists a “percolation threshold” (Φc = 3.6%) for the suspensions, below which both the “Cox‐Merz” and modified “Cox‐Merz” rule are competent over the whole shear regions. However, these two rules breakdown and a characteristic plateau appears in low frequency regions for suspensions with Φ > Φc. The reasons for this can be ascribed to the contributions of nonhydrodynamic forces and formation of percolated filler network structure with increasing Φ. Moreover, using a concentration‐dependent parameter, B(Φ), superposition curves of dynamic complex modulus (|G*|) and shear stress (τ) for all suspensions were obtained through shifting |G*| curves along the ordinate and τ functions along the abscissa using different B(Φ) as shifting factor. Unfortunately, the reasonable superposition range is restricted in the high ω or
$\dot \gamma$
regions. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
The early years—Across the bench from Bruce (1963–1966)
Authors: Marshall Garland R. 
Published: October 2007

AbstractThis personal reflection on the author's experience as Bruce Merrifield's first graduate student has been adapted from a talk given at the Merrifield Memorial Symposium at the Rockefeller University on November 13, 2006. © 2007 Wiley Periodicals, Inc. Biopolymers (Pept Sci) 90: 190–199, 2008.This article was originally published online as an accepted preprint. The “Published Online” date corresponds to the preprint version. You can request a copy of the preprint by emailing the Biopolymers editorial office at biopolymers@wiley.com
Synthesis and Properties of TRANSDIP, a Rigid Chelator Built upon a Cyclodextrin Cavity: Is TRANSDIP an Authentic trans‐Spanning Ligand?
Authors: Poorters Laurent , Armspach Dominique , Matt Dominique , Toupet Loïc , Choua Sylvie , Turek Philippe 
Published: October 2007

AbstractThe C2‐symmetrical diphosphane TRANSDIP was obtained in high yield by treating 6A,6B,6D,6E‐tetramesylated, permethylated α‐cyclodextrin with PPhLi2 in excess. The double cascade cyclisation thus produced is regioselective as phosphinidene capping involves only adjacent glucose units. It is also stereospecific, as both lone pairs on the phosphorus atoms are orientated towards the cyclodextrin axis. The restricted flexibility of the phosphorus atoms, which are part of nine‐membered heterocyclic rings, is responsible for JP,C spin–spin couplings with the eight‐bond distant CH2OMe carbon atoms of glucose units C and F. The treatment of TRANSDIP with Group 10 metal dihalides quantitatively gave square‐planar chelate complexes, in which a MX bond points towards the centre of the cavitand. The favourable P⋅⋅⋅P separation and the directional control of the lone pairs on the phosphorus atoms rule out the possibility of forming binuclear complexes or higher oligomers. Further, in all the complexes, the phosphorus atoms are in a trans arrangement. TRANSDIP may therefore be regarded as an authentic trans‐spanning diphosphane. In the complex [NiBr2⋅TRANSDIP], the cavity provides effective protection of the encapsulated MX bond towards nucleophilic attack by MeLi. The same complex, upon activation with methylaluminoxane, efficiently dimerises ethene and propene.
Modeling the Photochemistry of the Reference Phototoxic Drug Lomefloxacin by Steady‐State and Time‐Resolved Experiments, and DFT and Post‐HF Calculations
Authors: Freccero Mauro , Fasani Elisa , Mella Mariella , Manet Ilse , Monti Sandra , Albini Angelo 
Published: October 2007

AbstractThe irradiation in water of 1‐ethyl‐6,8‐difluoro‐7(3‐methylpiperazino)3‐quinolone‐2‐carboxylic acid (lomefloxacin), a bactericidal agent whose use is limited by its serious phototoxicity (and photomutagenicity in the mouse), leads to formation of the aryl cation in position eight that inserts into the 1‐ethyl chain. Trapping of the cation was examined and it was found that chloride and bromide straightforwardly add in position eight, but with iodide and with pyrrole the 1‐(2‐iodoethyl) and the 1‐[2‐(2‐pyrrolyl)ethyl] derivatives are formed. Flash photolysis reveals the triplet of lomefloxacin, a short‐lived species (λmax=370 nm, τ=40 ns) that generates the triplet cation (λmax=480 nm, τ≈120 ns). The last intermediate is quenched both by halides and by pyrrole. DFT and post‐HF methods have shown that the triplet is the lowest state of the cation (ΔGST=13.3 kcal mol−1) and intersystem crossing (ISC) to the singlet has no role because a less endothermic process occurs, that is, intramolecular hydrogen abstraction from the N‐ethyl chain (9.2 kcal mol−1) that finally leads to cyclization. The halides form weak complexes with the triplet cation (kq from 4.9×108 for Cl− to 7.0×109 m−1 s−1 for I−). With Cl− and Br− ISC occurs in the complex along with C8X bond formation. However, this latter process is slow with bulky iodide and with neutral pyrrole, and in these cases moderately endothermic electron transfer (ca. 7 kcal mol−1) yielding the 8‐quinolinyl radical occurs. Hydrogen exchange leads to a new radical on the 1‐ethyl chain and to the observed products. These findings suggest that the mutagenic activity of the DNA‐intercalated drug involves attack of the photogenerated cation to the heterocyclic bases.
Superatom Compounds, Clusters, and Assemblies: Ultra Alkali Motifs and Architectures.
Authors: Reber Arthur C. , Khanna Shiv N. , Castleman A. Welford Jr. 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
The Pure Rotational Spectrum of the Actinide‐Containing Compound Thorium Monoxide.
Authors: Dewberry Christopher T. , Etchison Kerry C. , Cooke Stephen A. 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
ScPtP and LaPtP — Two Phosphides with “Inverse” TiNiSi‐Type Structure.
Authors: Imre Anette , Mewis Albrecht 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Hydrogen Bonding and Structure of Ba2Ru2Cl10O×10H2O.
Authors: Boufas Sihem , Hadjadj Nasr‐Eddine , Merazig Hocine , Moliterni Anna Grazia , Altomare Angela 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
ZnTe6O13, a New ZnO—TeO2 Phase.
Authors: Nawash Jalal M. , Twamley Brendan , Lynn Kelvin G. 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Ca3GeO4Cl2 with a Norbergite‐Like Structure.
Authors: Redhammer Guenther J. , Roth Georg , Amthauer Georg 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Structural Studies of TcO2 by Neutron Powder Diffraction and First‐Principles Calculations.
Authors: Rodriguez Efrain E. , Poineau Frederic , Llobet Anna , Sattelberger Alfred P. , Bhattacharjee Joydeep , Waghmare Umesh V. , Hartmann Thomas , Cheetham Anthony K. 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Deep Ultraviolet Light‐Emitting Hexagonal Boron Nitride Synthesized at Atmospheric Pressure.
Authors: Kubota Yoichi , Watanabe Kenji , Tsuda Osamu , Taniguchi Takashi 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Cation Ordering and Electrical Properties of the Ruddlesden—Popper Gd2‐2xSr1+2xCo2O7 Compounds (x = 0 and 0.10).
Authors: Sanchez‐Andujar M. , Senaris‐Rodriguez M. A. 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Spectroscopic and Magnetic Properties of Co1.7Mn0.3(OH)PO4.
Authors: de Pedro I. , Rojo J. M. , Lezama L. , Rojo T. 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Solid State Phase Equilibria in the Er—Ni—P and Er—Ni—As Systems at 800 °C.
Authors: Zelinska Mariya , Zhak Olga , Oryshchyn Stepan , Polianska Tetiana , Pivan Jean‐Yves 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Highly Efficient Colloidal Cobalt‐ and Rhodium‐Catalyzed Hydrolysis of H3N×BH3 in Air.
Authors: Clark Timothy J. , Whittell George R. , Manners Ian 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
K7B7Si39, a Borosilicide with the Clathrate I Structure.
Authors: Jung Walter , Loerincz Josef , Ramlau Reiner , Borrmann Horst , Prots Yurii , Haarmann Frank , Schnelle Walter , Burkhardt Ulrich , Baitinger Michael , Grin Yuri 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Synthesis, Crystal and Band Structures, and Properties of a New Mixed Three‐Dimensional Framework Metal Pnictidehalide Semiconductor, (Hg6Sb4)(CdI6).
Authors: Zou Jian‐Ping , Li Yan , Zhang Zhang‐Jing , Guo Guo‐Cong , Liu Xi , Wang Ming‐Sheng , Cai Li‐Zhen , Lu Ying‐Bing , Huang Jin‐Shun 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Synthesis and Structural Characterization of a New Nanoporous‐Like Keggin Heteropolyanion Salt: K3(H2O)4 [H2SiVW11O40] (H2O)8+x.
Authors: de Paiva Floro Bonfim Rodrigo , de Moura Luiza Cristina , Pizzala Helene , Caldarelli Stefano , Paul Sebastien , Eon Jean Guillaume , Mentre Olivier , Capron Mickael , Delevoye Laurent , Payen Edmond 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Metal‐Complex‐Decorated Homochiral Heterobimetallic Telluride Single‐Stranded Helix.
Authors: Zhang Qichun , Bu Xianhui , Lin Zhien , Biasini Maurizio , Beyermann W. P. , Feng Pingyun 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Synthesis and Crystal Structure of Sodium Copper Tetrametaphosphimate Heptahydrate Na2Cu(PO2NH)4×7H2O and Sodium Potassium Copper Tetrametaphosphimate Heptahydrate KxNa2‐xCu (PO2NH)4×7H2O.
Authors: Roemer S. Rebecca , Schnick Wolfgang 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Desymmetrization of a Centrosymmetric Molecule by Carbon—Carbon Bond Formation: Asymmetric Aldol Reactions of a Centrosymmetric Dialdehyde.
Authors: Dodd Karen , Morton Daniel , Worden Stephen , Narquizian Robert , Nelson Adam 
Published: October 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.