bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta
Authors: Orioli Iêda M. , Castilla Eduardo E. , Scarano Gioacchino , Mastroiacovo Pierpaolo 
Published: June 2005

AbstractThe paternal ages of nonfamilial cases of achondroplasia (AC) (n = 78), thanatophoric dysplasia (TD) (n = 64), and osteogenesis imperfecta (OI) (n = 106), were compared with those of matched controls, from an Italian Indagine Policentrica Italiana sulle Malformazioni Congenite and a South American Estudio Colaborativo Latinoamericano de Malformaciones Congénitas series. The degree of paternal age effect on the origin of these dominant mutations differed among the three conditions. Mean paternal age was highly elevated in AC, 36.30 ± 6.74 years in the IPIMC, and 37.19 ± 10.53 years in the ECLAMC; less consistently elevated in TD, 33.60 ± 7.08 years in the IPIMC, and 36.41 ± 9.38 years in the ECLAMC; and only slightly elevated in OI in the ECLAMC, 31.15 ± 9.25 years, but not in the IPIMC, 32.26 ± 6.07 years. Increased maternal age or birth order in these conditions disappeared when corrected for paternal age. Approximately 50% of AC and TD cases, and only 30% of OI cases, were born to fathers above age 35 years. For AC and TD, the increase in relative incidence with paternal age fitted an exponential curve. The variability of paternal age effect in these new mutations could be due, among other reasons, to the high proportion of germ‐line mosaicism in OI parents, or to the localization of the AC gene, mapped to the 4p16.3 region, in the neighborhood of an unstable DNA area. © 1995 Wiley‐Liss, Inc.
Ag‐NOR studies in a human lymphocyte culture: Are variants localized to specific chromosomes?
Authors: Ozen Mustafa , Hopwood Vicki L. , Pathak Sen 
Published: June 2005

AbstractThe genomic activity and polymorphisms of nucleolus organizer regions (NORs) were studied in an individual with routinely used AgNO3 and Q‐banding techniques. The results demonstrate that (a) the mean number of NORs per metaphase spread was 7.4, (b) chromosomes 14, 13, 15, and 21 showed variations of Ag‐NOR in decreasing order, (c) chromosome 22 did not show a polymorphism in any cell examined, and (d) both chromosomes 14 showed silver staining in most cells. Unlike many earlier reports indicating that NOR variants were constitutional in each individual, our present case represented a mosaic pattern of polymorphism involving most of the D‐ and G‐group chromosomes. © 1995 Wiley‐Liss, Inc.
Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult
Authors: Papenhausen Peter R. , Mueller O. Thomas , Johnson Virginia P. , Sutcliffe Maxine , Diamond Theresa M. , Kousseff Boris G. 
Published: June 2005

AbstractUniparental disomy (UPD) of a number of different chromosomes has been found in association with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UPD of chromosome 14 studied in late gestation due to polyhydramnios and a ventral wall hernia. A prenatal karyotype documented a balanced Robertsonian 14:14 translocation. The baby was born prematurely with hairy forehead, retrognathia, mild puckering of the lips and finger contractures. Hypotonia has persisted since birth and at age one year, a tracheostomy for laryngomalacia and gastrostomy for feeding remain necessary. Absence of maternal VNTR polymorphisms and homozygosity of paternal polymorphisms using chromosome 14 specific probes at D14S22 and D14S13 loci indicated paternal uniparental isodisomy (pUPID). Parental chromosomes were normal. We also report on a case of maternal UPD in a normal patient with a balanced Robertsonian 14:14 translocation and a history of multiple miscarriages. Five previous reports of chromosome 14 UPD suggest that an adverse developmental effect may be more severe whenever the UPD is paternal in origin. This is the second reported patient with paternal UPD and the fifth reported with maternal UPD, and only few phenotypic similarities are apparent. Examination of these chromosome 14 UPD cases of maternal and paternal origin suggests that there are syndromic imprinting effects. © 1995 Wiley‐Liss, Inc.
Desquamative interstitial pneumonia in sibs
Authors: Tsukahara Masato , Yoshii Hideki , Imamura Takako , Kamei Toshiaki , Koga Mayumi , Furukawa Susumu 
Published: June 2005

AbstractWe report on 2 sibs with desquamative interstitial pneumonia. The female died at age 1 7/12 years despite use of prednisolone and methylprednisolone, while the male, now age 3 years, is alive with oxygen support. The occurrence of desquamative interstitial pneumonia in sibs born to normal parents suggests that in some cases the disease is an autosomal‐recessive trait. © 1995 Wiley‐Liss, Inc.
Klippel‐Trenaunay‐Weber syndrome associated with a 5:11 balanced translocation
Authors: Whelan Alison J. , Watson Michael S. , Porter Forbes D. , Steiner Robert D. 
Published: June 2005

AbstractWe report on a case of Klippel‐Trenaunay Weber syndrome (KTWS) associated with a reciprocal translocation [46,XX,t(5;11)(q13.3;p15.1)]. The patient had developmental delay and minor anomalies in addition to classic findings of KTWS. These data support the notion that Klippel‐Trenaunay‐Weber syndrome may be due to a single gene defect and suggests the possible localization of a Klippel‐Trenaunay‐Weber gene(s) to 5q or 11p. © 1995 Wiley‐Liss, Inc.
DMD and BMD in the same family due to two distinct mutations
Authors: Morandi L. , Mora M. , Tedeschi S. , Blasi C. Di , Curcio C. , De Leonardis P. , Brugnoni R. , Bernasconi P. , Mantegazza R. , Confalonieri V. , Cornelio F. 
Published: June 2005

AbstractWe report on a family with a boy affected by Duchenne muscular dystrophy (DMD) and an asymptomatic cousin with a Beckertype dystrophin abnormality, diagnosed by chance. Dystrophin gene analysis showed that these conditions were caused by two distinct deletions with breakpoints in different exons. In Xp21 families, DNA analysis and dystrophin testing of asymptomatic males with high CK plasma levels might detect different dystrophin mutations in separate haplotypes as in our family, although we stress there should be clear clinical or familial indications for such testing. © 1995 Wiley‐Liss, Inc.
Linkage studies of bipolar disorder in the region of the Darier's disease gene on chromosome 12q23‐24.1
Authors: Dawson Elisabeth , Parfitt Elizabeth , Roberts Queta , Daniels Jo , Lim Lionel , Sham Pak , Nöthen Markus , Propping Peter , Lanczik Mario , Maier Wolfgang , Reuner Ulrike , Weissenbach Jean , Gill Michael , Powell John , McGuffin Peter , Owen Mike , Craddock Nick 
Published: June 2005

AbstractWe have recently described a family in which there is cosegregation of major affective disorder with Darier's disease and have mapped this autosomal dominant skin disorder to 12q23‐q24.1. This has provided an interesting candidate region for genetic studies of bipolar disorder. We have studied the segregation of seven markers spanning the Darier's disease locus in 45 bipolar disorder pedigrees and found modest evidence in support of linkage under heterogeneity for 5 of these markers. Nonparametric analyses were suggestive of linkage with a marker at the gene encoding a secretory form of phospholipase A2. Our sample has relatively low power to detect linkage under heterogeneity and independent researchers should examine markers from this region in further samples of bipolar pedigrees. © 1995 Wiley‐Liss, Inc.
Mapping of the serotonin 5‐HT1Dβ autoreceptor gene on chromosome 6 and direct analysis for sequence variants
Authors: Lappalainen Jaakko , Dean Michael , Charbonneau Lauren , Virkkunen Matti , Linnoila Markku , Goldman David 
Published: June 2005

AbstractAbnormal brain serotonin function may be characteristic of several neuropsychiatric disorders. Thus, it is important to identify polymorphic genes and screen for functional variants at loci coding for genes that control normal serotonin functions. 5‐HT1Dβ is a terminal serotonin autoreceptor which may play a role in regulating serotonin synthesis and release. Using an SSCP technique we screened for 5‐HT1Dβ coding sequence variants in psychiatrically interviewed populations, which included controls, alcoholics, and alcoholic arsonists and alcoholic violent offenders with low CSF concentrations of the main serotonin metabolite 5‐HIAA. A common polymorphism was identified in the 5‐HT1Dβ gene with allele frequencies of 0.72 and 0.28. The SSCP variant was caused by a silent G to C substitution at nucleotide 861 of the coding region. This polymorphism could also be detected as a HincII RFLP of amplified DNA. DNAs from informative CEPH families were typed for the HincII RFLP and analyzed with respect to 20 linked markers on chromosome 6. Multipoint analysis placed the 5‐HT1Dβ receptor gene between markers D6S286 and D6S275. A maximum two‐point lod score of 10.90 was obtained to D6S26, which had been previously localized on 6q14–15. Chromosomal aberrations involving this region have been previously shown to cause retinal anomalies, developmental delay, and abnormal brain development. This region also contains the gene for North Carolina‐type macular dystrophy. © 1995 Wiley‐Liss, Inc.
Parents and collateral relatives of children with pervasive developmental disorders: A family history study
Authors: Szatmari Peter , Jones Marshall B. , Fisman Sandra , Tuff Larry , Bartolucci Giampiero , Mahoney William J. , Bryson Susan E. 
Published: June 2005

AbstractThe objective of this study was to see whether, using the family history method, the risk for pervasive developmental disorder (PDD), cognitive impairments, and other psychiatric symptoms is greater in the parents and collateral relatives of probands with PDD compared to a control group. A semistructured family history interview was carried out with the parents of 52 probands with PDD and 33 parents of controls. Rates of cognitive impairments and psychiatric problems were not found more frequently in parents or relatives of PDD probands compared to relatives of controls, but four cases of PDD were reported among the extended families of the PDD probands. The relatives with PDD were related to the probands through the maternal line, possibly suggesting some form of maternal influence on inheritance or reduced penetrance in females with the PDD genotype. © 1995 Wiley‐Liss, Inc.
Linkage analysis of chromosome 22q12–13 in a United Kingdom/Icelandic sample of 23 multiplex schizophrenia families
Authors: Kalsi G. , Brynjolfsson J. , Butler R. , Sherrington R. , Curtis D. , Sigmundsson T. , Read T. , Murphy P. , Sharma T. , Petursson H. , Gurling H. M. D. 
Published: June 2005

AbstractA possible linkage to a genetic subtype of schizophrenia and related disorders has been reported on the long arm of chromosome 22 at q12–13. (Pulver et al., 1994: Am J Med Genet 54:36‐43; Coon et al., 1994: Am J Med Genet 54:72–79; Pulver et al., 1994: Am J Med Genet 54:44‐50). However formal statistical tests in a combined sample could not reject homogeneity and prove that there was a linked subgroup of families. We have studied 23 schizophrenia pedigrees to test whether some multiplex schizophrenia families may be linked to the microsatellite markers D22S274 and D22S283 which span the 22q12‐13 region. Two point followed by multipoint lod and non‐parametric linkage analyses under the assumption of heterogeneity provided no evidence for linkage over the relevant region. © 1995 Wiley‐Liss, Inc.
Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)‐type I in Póvoa do Varzim and Vila do Conde (north of Portugal)
Authors: Sousa Alda , Coelho Teresa , Barros José , Sequeiros Jorge 
Published: June 2005

AbstractFamilial amyloidotic polyneuropathy (FAP‐type I) was first described in Portugal by Andrade in 1952, a time when 54 among 64 patients (belonging to 25 families) originated from Póvoa do Varzim or its surrounding districts. Since then, a total of 1,233 patients, belonging to 489 pedigrees (so far unrelated), have been diagnosed at Centro de Estudos de Paramiloidose, Porto, Portugal. Although age‐of‐onset showed a wide range (17 to 78 years), 87% of these 1,233 patients developed symptoms before 40 years of age (mean 33.5, SD 9.4 years).Among all patients, 432 belong to 140 families originating from the area of Póvoa do Varzim/Vila do Conde, 330 of whom lived in that area at the time of diagnosis; age‐of‐onset was, on average, lower than in the overall group of patients (mean 31.1, SD 6.7 years), and no patient had onset after 57 years (versus 3.3% in the global sample). As in previous studies, women were found to have a later onset (33.7) than men (29.0) years. In 1991, the crude prevalence rate was 90.3 × 10−5 (one in every 1,108 inhabitants), and the frequency of gene carriers was estimated to be 186 × 10−5 (one in every 538); about 48.4% of these carriers had manifested symptoms by 1991.Female patients had a significantly higher number of children (mean 3.7, SD 2.6) than male patients (mean 2.7, SD 2.1) and the length of their reproductive period (mean 8.4, SD 5.8 yr) was also greater than for men (mean 5.6, SD 4.4 yr). Altogether, the 122 patients who ever reproduced contributed 457 children to the next generation, a mean fertility of 3.7. Further studies using a control groups may answer the question of whether this is the result of a specific high fertility of these patients or just their belonging to a population in natural expansion. © 1995 Wiley‐Liss, Inc.
Lack of association between alcohol‐dependence and D3 dopamine receptor gene in three independent samples
Authors: Gorwood P. , Martres M. P. , Adès J. , Sokoloff P. , Noble E. P. , Geijer T. , Blum K. , Neiman J. , Jönsson E. , Feingold J. , Schwartz J. C. 
Published: June 2005

AbstractNumerous studies on the involvement of dopamine receptors in the genetics of alcoholism focused on associations between a polymorphism of the D2 dopamine receptor (DRD2) gene and alcohol dependence. However, the results of these studies are conflicting. Another receptor, the D3 dopamine receptor (DRD3), may be of additional interest since it is specifically located in the limbic area, and in particular in the nucleus accumbens which plays a significant role in the reward process of addiction behavior. We thus tested the association in three independent samples of alcoholic patients, with different origins and various inclusion criteria. No difference in the DRD3 gene polymorphism emerged between controls and alcoholic patients, regardless of their origin, inclusion criteria, or presence or absence of the DRD2 TaqI A1‐allele. Despite the fact that more information could have been considered and that association studies provide limited information, there is good evidence that this DRD3 polymorphism does not play a major role in the genetic component of alcoholism. © 1995 Wiley‐Liss, Inc.
Association study of dopamine D3 receptor gene and schizophrenia
Authors: Kennedy James L. , Billett Elizabeth A. , Macciardi Fabio M. , Verga Massimiliano , Parsons Thomas J. , Meltzer Herbert Y. , Lieberman Jeffery , Buchanan Janet A. 
Published: June 2005

AbstractSeveral groups have reported an association between schizophrenia and the MscI polymorphism in the first exon of the dopamine D3 receptor gene (DRD3). We studied this polymorphism using a North American sample (117 patients plus 188 controls) and an Italian sample (97 patients plus 64 controls). In the first part of the study, we compared allele frequencies of schizophrenia patients and unmatched controls and observed a significant difference in the total sample (P = 0.01). The second part of the study involved a case control approach in which each schizophrenia patient was matched to a control of the same sex, and of similar age and ethnic background. The DRD3 allele frequencies of patients and controls revealed no significant difference between the two groups in the Italian (N = 53) or the North American (N = 54) matched populations; however, when these two matched samples were combined, a significant difference was observed (P = 0.026). Our results suggest that the MscI polymorphism may be associated with schizophrenia in the populations studied. © 1995 Wiley‐Liss, Inc.
Self‐report psychiatric symptoms in twins and their nontwin relatives: Are twins different?
Authors: Kendler Kenneth S. , Martin Nicholas G. , Heath Andrew C. , Eaves Lindon J. 
Published: June 2005

AbstractWhile twin studies of psychiatric disorders have been conducted for over 65 years, surprisingly little is known about the comparability of psychiatric symptoms in adult twins and singletons. To address this question, we compared the means and variances of four‐factor scores on the self‐report Symptom Check List in twins and their relatives from the Virginia 30,000 twin‐family study. The four factors were depression, panic‐phobia, somatization, and insomnia. Twins had significantly higher scores on the panic‐phobia factor than their relatives, by about one eighteenth of a standard deviation, and this was replicated in both sub‐samples. However, no consistent and significant mean differences between twins and their relatives were detected for the other three symptom factors. While some differences in variance were found between twins and their relatives, in no case were the differences replicated in both subsamples. With the possible exception of modestly elevated scores for panic‐phobia, these results suggest that both the level and variability of common psychiatric symptoms reported by twins are similar to those found in the non‐twin population. © 1995 Wiley‐Liss, Inc.
Allomaternal behavior in a group of free‐ranging patas monkeys
Authors: Zucker E. L. , Kaplan J. R. 
Published: June 2005

AbstractA free‐ranging group of patas monkeys (Erythrocebus patas) containing 18 individually identifiable adult females was observed for approximately 400 hours, equally distributed over two two‐month periods corresponding to the breeding and birth seasons, at the La Parguera facility of the Caribbean Primate Research Center. The large number of infants born in the spring and early summer (n = 14) allowed for detailed observations of alloparental behaviors, with a focus on allomothering by the adult females. Seven types of alloparental behaviors were recorded: contact, nuzzling, grooming, agonism, close visual inspection, attempted kidnapping, and kidnapping. Adult females emitted the vast majority of allomaternal behavior, the patterning and frequency of which closely resembled the patterning and frequency of inter‐adult female social grooming. Relative dominance status of the participants did not consistently predict the directionality of allomothering. The most commonly observed allomaternal behaviors were contact and nuzzling, which are primarily affiliative behaviors; agonism was rare. Successful kidnapping occurred eight times. Immature monkeys (n = 22) emitted an additional 32 alloparental acts. A propensity towards allomothering by experienced females would be most beneficial to patas infants due to the patas' tendency towards dispersed foraging and rapid flight in the presence of danger. It is possible that direct competition with groups of rhesus macaques for available resources on the island served as a proximal cause for the allomothering observed in this patas group.
Transfemoral catheterization of the cavernous sinus outflow with comparison of “central” and “peripheral” gonadotropin patterns in bonnet monkeys
Authors: Goodman N. F. , McArthur J. W. , Roberson G. , Beitins I. Z. , Hauck W. W. 
Published: June 2005

AbstractConcentrations of follicle stimulating hormone (FSH) and luteinizing hormone (LH) in central (C) samples obtained by transfemorally catheterizing the inferior petrosal sinus of female bonnet monkeys were compared with those in peripheral (P) samples obtained simultaneously from the saphenous veins of two intact and two oophorectomized bonnet monkeys, before, during, and after luteinizing hormone releasing hormone (LHRH) stimulation. Significant differences between central and peripheral gonadotropin concentrations were detected intermittently in the resting state, and tended to be magnified by LHRH administration. In one animal in which LHRH was fortuitously administered during the course of a spontaneous LH surge, a C/P ratio for LH of 12.71, the maximum observed, was obtained. Spectral analysis exhibited periodicity for LH and, to a lesser extent, for FSH in the oophorectomized, but not in the intact, animals.
Brief repot: Interactions with infants by full siblings, paternal half‐siblings, and nonrelatives in a captive group of rhesus macaques (Macaca mulatta)
Authors: Small M. F. , Smith D. G. 
Published: June 2005

AbstractSix mother‐infant pairs in a group of captive rhesus monkeys (Macaca mulatta) were observed for six months. “Infant grabs” by others and mothers' resistance to grabs were scored. More full siblings grabbed infants than either paternal half‐siblings or nonrelatives. Mothers resisted grabbing by more nonrelatives than by paternal half‐siblings. Although the maternal effect suggested by full sib‐infant interactions is expected, the paternal effect revealed by mothers' tolerance of paternal half‐sibs, but not full siblings, over nonrelatives is unexpected.
Transcervical endometrial biopsy in the baboon: Effects on the menstrual cycle and relations to protein and dry matter content and histology
Authors: Boots L. R. , Dollar J. R. , Cornwell P. E. , Bradley E. L. 
Published: June 2005

AbstractThe baboon has been used increasingly for reproductive studies. While hormonal regulation of the menstrual cycle and ovulation as well as the endocrinology of gestation have been reported, little information is available describing endometrial parameters. It is the purpose of this paper to describe the ease with which repeated transcervical biopsies can be performed, to describe baseline endometrial protein and dry weight data and to demonstrate that the biopsy procedure itself does not significantly affect the baboons' ability to continue normal menstrual cycle function. Endometrial biopsy samples were taken throughout the menstrual cycle under light ketamine anesthesia. Protein and dry weight contents were determined. Endometrial biopsies Protein and dry weight contents were determined. Endometrial biopsies averaged 25 mg (wet weight) and contained 7.54% protein and 16.3% dry matter. The formulas (Y = a + bx) which expressed the linear relationships between wet weight (mg), protein (μg) and dry matter (μg) content and the correlation coefficients (r) were as follows: between wet weight and protein content – wet weight = 5.58 + 10.0 (protein), Sxy = 4.83, r = 0.883; between wet weight and dry weight – wet weight = 1.99 + 7.94 (dry weight), Sxy = 4.52, r = 0.904; between protein and dry weight – protein = 0.446 + 0.446 (dry weight), Sxy = 4.82, r = 0.870. All three linear regression coefficients were statistically significant (P < 0.001). No significant cyclical patterns in either protein or dry matter content were demonstrable throughout the menstrual cycles. The average length of all nonbiopsy cycles was 32.4 ± 2.7 days and 32.8 ± 3.6 days for those in which biopsies were taken. Similarly, follicular and luteal phase lengths for nonbiopsy and biopsy cycles were 15.4 ± 2.3 and 15.5 ± 2.8 days and 16.9 ± 2.2 and 17.2 ± 3.2 days, respectively. The time required for sex‐skin swelling to decrease from maximum to minimum during the luteal phase was shorter, but the quiescent stage was equally lengthened. It was concluded that the endometrium of the baboon was easily accessible for study without causing serious alterations in menstrual cycle function. These studies further demonstrate the potential of the baboon as a model o reproductive studies. In fact, the baboon may well the only practical primate model available for endometrial studies.