The Experts below are selected from a list of 45 Experts worldwide ranked by ideXlab platform
Alfredo Berardelli - One of the best experts on this subject based on the ideXlab platform.
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psychopathological features of obsessive compulsive disorder in an italian family with gilles de la tourette syndrome not linked to the SLITRK1 Gene
2008Co-Authors: Massimo Pasquini, Giovanni Fabbrini, Isabella Berardelli, Vincenzo Bonifati, Massimo Biondi, Alfredo BerardelliAbstract:We report the psychopathological features in a large Italian family with Gilles de la Tourette syndrome not linked to the SLITRK1 Gene. Of the 23 living family members, 14 were evaluated using the Structured Clinical Interview for DSM-IV, the Yale-Brown Obsessive-Compulsive Scale, the Clinical Global Impression and the Global Assessment of Functioning scale. Ten patients were found to have obsessive-compulsive disorder in which tic-like compulsions predominated. The distinctive feature of this family is the high frequency of obsessive-compulsive disorder with various clinical phenotypes.
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a large italian family with gilles de la tourette syndrome clinical study and analysis of the SLITRK1 Gene
2007Co-Authors: Giovanni Fabbrini, Massimo Pasquini, Cinzia Aurilia, Isabella Berardelli, Guido J Breedveld, Ben A Oostra, Vincenzo Bonifati, Alfredo BerardelliAbstract:Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 Gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 Gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the cranio-cervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 Gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to Genetic heteroGeneity in TS.
Massimo Pasquini - One of the best experts on this subject based on the ideXlab platform.
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psychopathological features of obsessive compulsive disorder in an italian family with gilles de la tourette syndrome not linked to the SLITRK1 Gene
2008Co-Authors: Massimo Pasquini, Giovanni Fabbrini, Isabella Berardelli, Vincenzo Bonifati, Massimo Biondi, Alfredo BerardelliAbstract:We report the psychopathological features in a large Italian family with Gilles de la Tourette syndrome not linked to the SLITRK1 Gene. Of the 23 living family members, 14 were evaluated using the Structured Clinical Interview for DSM-IV, the Yale-Brown Obsessive-Compulsive Scale, the Clinical Global Impression and the Global Assessment of Functioning scale. Ten patients were found to have obsessive-compulsive disorder in which tic-like compulsions predominated. The distinctive feature of this family is the high frequency of obsessive-compulsive disorder with various clinical phenotypes.
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a large italian family with gilles de la tourette syndrome clinical study and analysis of the SLITRK1 Gene
2007Co-Authors: Giovanni Fabbrini, Massimo Pasquini, Cinzia Aurilia, Isabella Berardelli, Guido J Breedveld, Ben A Oostra, Vincenzo Bonifati, Alfredo BerardelliAbstract:Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 Gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 Gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the cranio-cervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 Gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to Genetic heteroGeneity in TS.
Giovanni Fabbrini - One of the best experts on this subject based on the ideXlab platform.
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psychopathological features of obsessive compulsive disorder in an italian family with gilles de la tourette syndrome not linked to the SLITRK1 Gene
2008Co-Authors: Massimo Pasquini, Giovanni Fabbrini, Isabella Berardelli, Vincenzo Bonifati, Massimo Biondi, Alfredo BerardelliAbstract:We report the psychopathological features in a large Italian family with Gilles de la Tourette syndrome not linked to the SLITRK1 Gene. Of the 23 living family members, 14 were evaluated using the Structured Clinical Interview for DSM-IV, the Yale-Brown Obsessive-Compulsive Scale, the Clinical Global Impression and the Global Assessment of Functioning scale. Ten patients were found to have obsessive-compulsive disorder in which tic-like compulsions predominated. The distinctive feature of this family is the high frequency of obsessive-compulsive disorder with various clinical phenotypes.
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a large italian family with gilles de la tourette syndrome clinical study and analysis of the SLITRK1 Gene
2007Co-Authors: Giovanni Fabbrini, Massimo Pasquini, Cinzia Aurilia, Isabella Berardelli, Guido J Breedveld, Ben A Oostra, Vincenzo Bonifati, Alfredo BerardelliAbstract:Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 Gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 Gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the cranio-cervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 Gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to Genetic heteroGeneity in TS.
Chen Jian-min - One of the best experts on this subject based on the ideXlab platform.
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Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants
2007Co-Authors: Chuzhanova Nadia, Cooper, David Neil, Ferec Claude, Chen Jian-minAbstract:The 3' untranslated regions (3' UTRs) of human protein-coding Genes play a pivotal role in the regulation of mRNA 3' end formation, stability/degradation, nuclear export, subcellular localisation and translation, and hence are particularly rich in cis-acting regulatory elements. One recent addition to the already large repertoire of known cis-acting regulatory elements are the microRNA (miRNA) target sites that are present in the 3' UTRs of many human Genes. miRNAs post-transcriptionally down-regulate Gene expression by binding to complementary sequences on their cognate target mRNAs, thereby inducing either mRNA degradation or translational repression. To date, only one disease-associated 3' UTR variant (in the SLITRK1 Gene) has been reported to occur within a bona fide miRNA binding site. By means of sequence complementarity, we have performed the first systematic search for potential miRNA-target site mutations within a set of 79 known disease-associated 3' UTR variants. Since no variants were found that either disrupted or created binding sites for known human miRNAs, we surmise that miRNA-target site mutations are not likely to represent a frequent cause of human Genetic disease. ORCIDs linked to this articl
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Searching for potential microRNA-binding site mutations amongst known disease-associated 3′ UTR variants
2026Co-Authors: Chuzhanova Nadia, Ferec Claude, Cooper, David N., Chen Jian-minAbstract:The 3′ untranslated regions (3′ UTRs) of human protein-coding Genes play a pivotal role in the regulation of mRNA 3′ end formation, stability/degradation, nuclear export, subcellular localisation and translation, and hence are particularly rich in cis-acting regulatory elements. One recent addition to the already large repertoire of known cis-acting regulatory elements are the microRNA (miRNA) target sites that are present in the 3′ UTRs of many human Genes. miRNAs post-transcriptionally down-regulate Gene expression by binding to complementary sequences on their cognate target mRNAs, thereby inducing either mRNA degradation or translational repression. To date, only one disease-associated 3′ UTR variant (in the SLITRK1 Gene) has been reported to occur within a bona fide miRNA binding site. By means of sequence complementarity, we have performed the first systematic search for potential miRNA-target site mutations within a set of 79 known disease-associated 3′ UTR variants. Since no variants were found that either disrupted or created binding sites for known human miRNAs, we surmise that miRNA-target site mutations are not likely to represent a frequent cause of human Genetic disease
Isabella Berardelli - One of the best experts on this subject based on the ideXlab platform.
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psychopathological features of obsessive compulsive disorder in an italian family with gilles de la tourette syndrome not linked to the SLITRK1 Gene
2008Co-Authors: Massimo Pasquini, Giovanni Fabbrini, Isabella Berardelli, Vincenzo Bonifati, Massimo Biondi, Alfredo BerardelliAbstract:We report the psychopathological features in a large Italian family with Gilles de la Tourette syndrome not linked to the SLITRK1 Gene. Of the 23 living family members, 14 were evaluated using the Structured Clinical Interview for DSM-IV, the Yale-Brown Obsessive-Compulsive Scale, the Clinical Global Impression and the Global Assessment of Functioning scale. Ten patients were found to have obsessive-compulsive disorder in which tic-like compulsions predominated. The distinctive feature of this family is the high frequency of obsessive-compulsive disorder with various clinical phenotypes.
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a large italian family with gilles de la tourette syndrome clinical study and analysis of the SLITRK1 Gene
2007Co-Authors: Giovanni Fabbrini, Massimo Pasquini, Cinzia Aurilia, Isabella Berardelli, Guido J Breedveld, Ben A Oostra, Vincenzo Bonifati, Alfredo BerardelliAbstract:Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 Gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 Gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the cranio-cervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 Gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to Genetic heteroGeneity in TS.