bluuebunny/crossref_metadata_2025_split huggingface dataset:
A genome‐wide scan for loci predisposing to non‐syndromic cleft lip with or without cleft palate in two large Syrian families
Authors: Wyszynski Diego F. , Albacha‐Hejazi Hasan , Aldirani Mohammed , Hammod Moustafa , Shkair Hikmat , Karam Ahmed , Alashkar Jehad , Holmes Taura N. , Pugh Elizabeth W. , Doheny Kimberly F. , McIntosh Iain , Beaty Terri H. , Bailey‐Wilson Joan E. 
Published: October 2003

AbstractNon‐syndromic cleft lip with/without cleft palate (CL/P) is a common, usually non‐fatal birth defect of complex etiology. Several segregation analyses have demonstrated that genetic factors are important in the pathogenesis of CL/P, most likely through the interaction of several genes of modest effects. The aim of this study was to perform a genome‐wide linkage analysis to identify/search for candidate gene loci for CL/P. We conducted a genome‐wide search in two large, relatively isolated Syrian families, each one with a large number of cases with CL/P (18 in family 1 and 4 in family 2). A locus with a multipoint LOD score of 2.80 and a 2‐point non‐parametric MLS LOD of 3.0 was detected on 17p13.1. Other chromosomal regions with multipoint LOD scores ≥ 1.2 (P ≤ 0.01) included 3p21.2, 4q32.1, and 7q34. These data indicate the possible presence of several susceptibility loci for CL/P and identify a strong candidate locus for this common birth defect on chromosome 17p13. Published 2003 Wiley‐Liss, Inc.
Werner mesomelic dysplasia with Hirschsprung disease
Authors: Goldenberg Alice , Milh Mathieu , de Lagausie Pascal , Mesnage Renaud , Benarif Fatiha , De Blois Marie‐Christine , Munnich Arnold , Lyonnet Stanislas , Cormier‐Daire Valérie 
Published: October 2003

AbstractMesomelic dysplasia type Werner is defined by absence of tibiae and preaxial polysyndactyly of hands and feet. Occasional findings are triphalangeal thumbs, absence of patella(e), and dislocated fibula(e). The molecular basis is unknown and autosomal dominant inheritance with variable expressivity is currently postulated. Hirschsprung disease was reported previously in one case. We report here on a new case of mesomelic dysplasia Werner type associated with Hirschsprung disease and bilateral cryptorchidism. We discuss the overlap with the triphalangeal thumb polysyndactyly syndrome located in chromosome 7q36. © 2003 Wiley‐Liss, Inc.
Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome
Authors: Faivre Laurence , Dollfus Hélène , Lyonnet Stanislas , Alembik Yves , Mégarbané André , Samples John , Gorlin Robert J. , Alswaid Abdulrahman , Feingold Josué , Le Merrer Martine , Munnich Arnold , Cormier‐Daire Valérie 
Published: October 2003

AbstractWeill–Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of lens, severe myopia, and glaucoma. Both autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have been described for WMS. A locus for AR WMS has recently been mapped to chromosome 19p13.3‐p13.2 while mutation within the fibrillin‐1 gene (15q21.1) was found in one AD WMS family. In order to answer the question of whether or not genetic heterogeneity could be related to a clinical heterogeneity, we reviewed 128 WMS patients from the literature (including 57 AR, 50 AD, and 21 sporadic cases), with a particular attention to clinical features. Statistical analyses using Fischer exact test were used to compare the proportions of 12 clinical parameters between AR and AD patients. There was no significant difference between both groups for myopia, glaucoma, cataract, short stature, brachydactyly, thick skin, muscular build, and mental retardation. Significant results were found for microspherophakia (94% in AR, 74% in AD, Fischer 0.007), ectopia lentis (64% in AR, 84% in AD, Fischer 0.016), joint limitations (49% in AR, 77% in AD, Fischer 0.010), and cardiac anomalies (39% in AR, 13% in AD, Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in individual cases. These results support the clinical homogeneity but the genetic heterogeneity of WMS. © 2003 Wiley‐Liss, Inc.
Crisponi syndrome: Report of a further patient
Authors: Accorsi P. , Giordano L. , Faravelli F. 
Published: October 2003

AbstractCrisponi syndrome was described in the original paper in 17 patients form 12 families [Crisponi, 1996: Am J Med Genet 62:365–371]. It is characterised by episodes of muscle contraction in response to external stimuli and intermittent hypethermia with neonatal onset. The disease is often lethal in the first infancy. We describe a patient with the same unusual phenotype. © 2003 Wiley‐Liss, Inc.
Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q
Authors: Varda Nataša Marčun , Kokalj Vokač N. , Kanič Z. , Bračič K. , Erjavec A. , Zagradišnik B. , Gregorič A. 
Published: October 2003

AbstractPartial trisomy of the long arm of chromosome 10 is a well‐defined but rare syndrome. Clinical features of this chromosomopathy are a distinctive dysmorphic appearance, developmental delay, growth retardation, and in some cases, abnormalities of the extremities and renal, cardiac and ocular anomalies. This report describes a neonate with symmetric growth retardation and multiple dysmorphic features, in whom chromosomal analysis revealed a partial trisomy of chromosome 10q with a monosomy of the 13q34 region. The phenotype shares many common features with previously published cases. In addition to the typical features, our case also shows renal hypoplasia with early renal insufficiency and some genital anomalies. © 2003 Wiley‐Liss, Inc.
Novel mutation in the 5′ splice site of exon 4 of theTCOF1gene in the patient with Treacher Collins syndrome
Authors: Marszalek Bozena , Wisniewski Slawomir A. , Wojcicki Piotr , Kobus Kazimierz , Trzeciak Wieslaw H. 
Published: October 2003

AbstractTreacher Collins syndrome (TCS) is caused by mutations in theTCOF1gene. This gene encodes a serine/alanine‐rich protein called treacle. The structure of the entireTCOF1gene was investigated in a patient with TCS. We detected a novel deletion (376delAAGGTGAGTGGGACTGCC) spanning 3 bp of exon 4 and 15 bp of the adjacent intronic sequence. This mutation causes premature termination of translation, resulting in a truncated protein devoid of nucleolar localization signal, and potential phosphorylation sites. Real‐time PCR analysis showed different melting temperatures of the amplified fragment containing normal allele and that harboring the 18 bp deletion, thus providing a rapid screening assay for this and other deletions of theTCOF1gene. © 2003 Wiley‐Liss, Inc.
Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients
Authors: Bobabilla‐Morales Lucina , Corona‐Rivera Alfredo , Corona‐Rivera J. Román , Buenrostro C. , García‐Cobián Teresa A. , Corona‐Rivera Enrique , Cantú‐Garza José María , García‐Cruz Diana 
Published: October 2003

AbstractSeckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre‐ and post‐natal growth retardation, microcephaly, typical facial appearance with beak‐like protrusion, and severe mental retardation. A heterogeneous basis for SS was proposed since around 25% of SS patients have hematological anomalies, suggesting a subgroup of SS with chromosome instability and hematological disorders. Chromosome instability induced by mitomycin C (MMC) has been observed in previous reports. The purpose of this study is to report cytogenetic features in five patients with SS. The patients had low birth weight (mean 1,870 g), short stature (SD = 6.36), microcephaly (OFC, SD = 8.1), typical facial appearance, and multiple articular dislocations. None of them had anemia at the time of examination. In all cases their parents were healthy and non‐consanguineous. Lymphocytes of SS patients and a control group (n = 9) matched by age and sex were cultured with and without MMC, and harvested at 72 and 96 hr. Chromosomal aberrations (chromatid and chromosomal gaps and breaks, deletions, fragments, and exchanges) were scored in 100 metaphases per culture. A statistical increase of chromosomal aberrations was observed in 96 hr MMC cultures in all patients (40.2% vs. 2.8%). Sister chromatid exchanges were also performed with no differences between groups. Clinical and cytogenetic findings support the idea that SS may correspond to a chromosome instability syndrome. © 2003 Wiley‐Liss, Inc.
Preparation of ion‐exchange membranes by the hydrolysis of radiation‐grafted polyethylene‐g‐polyacrylamide films: Properties and metal‐ion separation
Authors: Gupta Bhuvanesh , Anjum Nishat 
Published: October 2003

AbstractIon‐exchange membranes were prepared by the alkaline hydrolysis of radiation‐grafted polyethylene‐g‐polyacrylamide membranes. The hydrolyzed membranes showed a good water uptake of approximately 1060 for a graft level of 590%. The electrical resistance of the membranes decreased with an increase in the degree of grafting up to 200% and then stabilized with further increases in the graft level. The membranes had an excellent binding capacity for mercury ions. The metal‐binding capacity increased with an increase in the degree of grafting in the membranes. A binding capacity as high as 7.2 mmol/g in a membrane with 590% grafting was achieved. The pH of the metal solution had a significant influence on the binding ability of the membranes. The partial hydrolysis of the grafted membranes contributed to the higher binding because of the expansion of the bulk structure by ionized carboxyl groups and the better accessibility of mercury to amide groups. The mercury‐loaded membranes showed thermal stability inferior to that of membranes without metal binding. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 90: 3747–3752, 2003
Miscibility and crystallization behavior of poly(3‐hydroxyvalerate‐co‐3‐hydroxyvalerate)/ poly(propylene carbonate) blends
Authors: Peng Shuwen , An Yuxian , Chen Cheng , Fei Bin , Zhuang Yugang , Dong Lisong 
Published: October 2003

AbstractBlends of synthetic poly(propylene carbonate) (PPC) with a natural bacterial copolymer of 3‐hydroxybutyrate with 3‐hydroxyvalerate (PHBV) containing 8 mol % 3‐hydroxyvalerate units were prepared with a simple casting procedure. PPC was thermally stabilized by end‐capping before use. The miscibility, morphology, and crystallization behavior of the blends were investigated by differential scanning calorimetry, polarized optical microscopy, wide‐angle X‐ray diffraction (WAXD), and small‐angle X‐ray scattering (SAXS). PHBV/PPC blends showed weak miscibility in the melt, but the miscibility was very low. The effect of PPC on the crystallization of PHBV was evident. The addition of PPC decreased the rate of spherulite growth of PHBV, and with increasing PPC content in the PHBV/PPC blends, the PHBV spherulites became more and more open. However, the crystalline structure of PHBV did not change with increasing PPC in the PHBV/PPC blends, as shown from WAXD analysis. The long period obtained from SAXS showed a small increase with the addition of PPC. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 90: 4054–4060, 2003
Oil‐absorption function of physical crosslinking in the high‐oil‐absorption resins
Authors: Shan Guo‐Rong , Xu Ping‐Ying , Weng Zhi‐Xue , Huang Zhi‐Ming 
Published: October 2003

AbstractThe concept of physical crosslinking was introduced into the research field of oil‐absorption resins, which were traditionally synthesized only by chemical crosslinking. Specifically, the partially physical crosslinking acrylic series for high‐oil‐absorption resins were prepared in the suspension process, and the swelling behavior of the samples was observed and recorded online. This demonstrated that a kind of relaxing three‐dimensional network was indeed formed by the introduction of polybutadiene (PB). The effects of monomer feed ratios, crosslinking agent concentration and type, particle size, and temperature on the oil absorbency and oil‐absorption speed were investigated. The results indicated that there were an optimum monomer feed ratio and an optimum amount of ethylene glycol dimethacrylate or PB. In addition, the particle size and temperature had a serious influence on the oil‐absorption speed in comparison with the monomer feed ratio and the crosslinking agent concentration and type. The results also showed that particle size affected oil absorbency to a great degree and that the effect of temperature on oil absorbency was complex. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 90: 3945–3950, 2003
Assessment of cyclization and network defects in glycidylamine‐based epoxy networks by selective degradation
Authors: Stutz Herbert , Tesch Helmut 
Published: October 2003

AbstractA special model system based on trimethylene glycol di(p‐aminobenzoate) and its glycidyl derivative was evaluated to study the extent of cyclization in glycidylamine epoxies. The cured resins were degraded by alkaline hydrolysis, which left the cycles unaffected. The cycle concentration obtained by high‐performance liquid chromatography was 15%. The oligomer distribution of the degradation products strongly indicated that up to 40% of the epoxy groups were lost to side reactions, and this resulted in a large number of structural defects in the network. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 90: 3951–3956, 2003
Anionic copolymerization of lauryl lactam and polycaprolactone for the production of a poly(ester amide) triblock copolymer
Authors: Kim In , White James L. 
Published: October 2003

AbstractThis article examines the anionic polymerization of lauryl lactam into polyamide 12 and the copolymerization of lauryl lactam with a diisocyanate‐end‐capped polycaprolactone used to produce a poly(ester amide) block copolymer. The molecular weights of the polyester polyols used in the preparation of the diisocyanate‐end‐capped polycaprolactone were varied. The products were characterized with Fourier transform infrared spectroscopy and differential scanning calorimetry, and the mechanical properties were measured in a mechanical tester. The influence of the polyol molecular weight was considered. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 90: 3797–3805, 2003
Cure kinetics and thermomechanical properties of thermally stable photopolymerized dimethacrylates
Authors: Cook Wayne D. , Forsythe John S. , Irawati Nova , Scott Timothy F. , Xia Wilson Z. 
Published: October 2003

AbstractA range of dimethacrylates with varying backbone flexibility were partially photocured to various conversions using p‐xylylene bis‐(N,N‐diethyldithiocarbamate) as a photoiniferter and their glass transition region investigated by dynamic mechanical thermal analysis. For isothermally cured samples, the final degree of conversion was found to increase as the length of the spacer group in the monomer was increased or as the crosslink density in the resin was lowered due to the reduced glass transition temperature which allowed greater mobility and, hence, higher cure. Increasing the curing temperature also resulted in a higher degree of conversion as the network was able to polymerize further before vitrification occurred. For the partially photocured samples, the glass transition temperature was raised as the degree of conversion was increased. Most of the measures of the breadth of the glass transition were found to increase with increased conversion for dimethacrylates with short or stiff backbones (TETDMA and bisGMA) while the transition breadth was independent of conversion for either a more flexible dimethacrylate (NEGDMA) or a dimethacrylate network with a lower crosslink density (50 wt % bisGMA/50 wt % PGEMA). This conclusion was generally confirmed by analysis of the viscoelastic parameters in the frequency domain. It is not clear whether these behaviors resulted from differences in the range of molecular motions available in tight networks or if they were due to spatially heterogeneous regions in the network. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 90: 3753–3766, 2003
Influences of individual and composed poly(vinyl alcohol) suspending agents on particle morphology of suspension poly(vinyl chloride) resin
Authors: Bao Yong‐Zhong , Liao Jian‐Gang , Huang Zhi‐Ming , Weng Zhi‐Xue 
Published: October 2003

AbstractEffects of individual and composed poly(vinyl alcohol) (PVA) suspending agents on the particle morphology of poly(vinyl chloride) (PVC) resins were investigated and discussed in the view of PVA absorption at the oil/water interface and interfacial behavior. It was shown that the percentage and surface coverage of PVA at the oil/water interface decreased with the increase of the degree of hydrolysis (DH) of PVA in the DH range of 70–98 mol %, while the interfacial tension of VC/PVA aqueous solution increased linearly with the increase of DH of PVA. PVC resin with more regular particle shape, increased agglomeration and fusion of primary particles, lower porosity and higher bulk density, was prepared by using PVA with a higher DH as a suspending agent. This was caused by the occurrence of drop coalescence at the very early stage of VC polymerization, the increase of particle shrinkage, and the lower colloidal protection to primary particles. It was also shown that the interfacial tension of VC/water in the presence of composed PVA suspending agents varied linearly with the weight composition of the composed PVA suspending agents. The particle properties of PVC resin prepared by using the composed PVC suspending agents were usually situated in between the properties of PVC resins prepared by using the corresponding individual PVA suspending agent. The particle morphology and properties of PVC resin could be controlled by the suitable choice of the composed PVA suspending agents. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 90: 3848–3855, 2003
Nucleating activity of the quinacridone and phthalocyanine pigments in polypropylene crystallization
Authors: Broda Jan 
Published: October 2003

AbstractThe nucleating ability of two organic pigments, quinacridone and phthalocyanine, in nonisothermal polypropylene (PP) crystallization was investigated. The investigations were carried out using DSC and polarizing microscopy. The efficiency of pigments in the nucleation process was determined in a simple test comparing the crystallization temperature of the PP‐containing pigments with respect to the pure polymer. Both pigments revealed good nucleating activity. In the presence of pigments the increment of the crystallization temperature and the increase of nucleation rate were observed. The nucleating efficiency of pigments was confirmed in investigations of the obtained structure. The nucleating activity of pigments was explained by their features fulfilling several requirements for good nucleating agents. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 90: 3957–3964, 2003
Preparation of hemispherical poly(4‐vinylpyridine‐co‐butyl acrylate)/poly(styrene‐co‐butyl acrylate) composite microspheres by seeded preswelling emulsion polymerization
Authors: Han Shao‐Hua , Ma Guang‐Hui , Du Yong‐Zhong , Omi Shinzo , Gu Li‐Xia 
Published: October 2003

AbstractSeeded preswelling emulsion polymerization was carried out by using monodispersed poly(4‐vinylpyridine‐co‐butyl acrylate) [P(4VP‐BA)] particles as the seed, and styrene and butyl acrylate as the second‐stage monomers under different polymerization conditions, to obtain hemispherical polystyrene (PST)‐rich–P4VP‐rich microspheres. Prior to polymerization, toluene was added into the preswelling system together with the second‐stage monomers. It was found that, with the increase of the amount of toluene, the particle morphology showed a tendency toward desirable hemispherical structure, and the colloidal stability of composite latex was improved. When the weight ratio of toluene/seed latex was increased up to 7.5/40 (g/g), the stable hemispherical latex could be obtained. However, when toluene was not added, the coagulum formed on the wall of the reactor during polymerization, and the composite particles with multiple surface domains (such as sandwich‐like, popcorn‐like) were formed. In addition, the final morphology of composite particles was influenced by the polarity of the seed crosslinker and the hydrophilicity of the second‐stage initiator, which could affect the mobility of poly(styrene‐co‐butyl acrylate) [P(ST‐BA)] chains. The morphology development during the polymerization was investigated in detail, and a schematic model was derived to depict the formation mechanism of hemispherical P(4VP‐BA)/P(ST‐BA) composite microspheres. The results revealed that the mobility of the P(ST‐BA) chains influenced the diffusion of the P(ST‐BA) domains on the surface of the P(4VP‐BA) matrix. When the mobility of the P(ST‐BA) chains allowed small‐size P(ST‐BA) domains to coalesce into one larger domain, complete phase‐separated morphology (hemisphere) could be achieved. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 90: 3811–3821, 2003
Study of the influence of nejayote and other additives on the cohesive strength and electric properties of carbon black agglomerates
Authors: González Regino , Reguera Edilso , Figueroa Juan M. , De La Luz Martínez José 
Published: October 2003

AbstractAn investigation was carried out on the influence of nejayote and other additives (water, potassium lignosulfonate, and furfuryl alcohol), on the cohesive strength and electrical properties of carbon black agglomerates. The thermal stability of carbon black agglomerates with potassium lignosulfonate and nejayote was similar. The influence of nejayote and potassium lignosulfonate on the cohesive strength of carbon black agglomerates was also similar but the electrical properties were different. The carbon black agglomerates with nejayote have a lower electrical conductivity. The influence of water on the cohesive strength of carbon black agglomerates was not significant but it was important in their electrical conductivity. Nejayote, a waste by‐product from the corn‐processing industry, appears as a potential agglutinant in the carbon black pelletization process. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 90: 3965–3972, 2003
Immobilization of chitosan on nylon 6,6 and pet granules through hydrolysis pretreatment
Authors: Zhang X. , Bai Renbi 
Published: October 2003

AbstractChitosan has been increasingly studied as an adsorbent for removing heavy metal ions and organic compounds from aqueous solutions. Most of the studies used chitosan in the form of flakes, powder, or hydrogel beads. This research investigates the immobilization of chitosan on other granular materials to overcome the poor mechanical property of chitosan and offers the potential for chitosan to be used as a regenerable adsorbent. Nylon 6,6 and poly(ethylene terephthalate) (PET) granules were partially hydrolyzed under an acidic or alkaline condition to allow chitosan to be coated or immobilized on the granules' surfaces. The surface morphologies of nylon 6,6 or PET granules before and after hydrolysis and those with immobilized chitosan layer were examined by scanning electron microscopy (SEM), and their surface properties were characterized through ζ‐potential analysis and X‐ray photoelectron spectroscopy. The immobilization of chitosan on nylon 6,6 or PET granules was identified to be through the formation of the salt structure (–NH…−OOC–) between the surfaces of hydrolyzed nylon 6,6 or PET granules and the chitosan layer. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 90: 3973–3979, 2003