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James P. Evans - One of the best experts on this subject based on the ideXlab platform.
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evidence for Locus Heterogeneity in human autosomal dominant split hand split foot malformation
American Journal of Human Genetics, 2003Co-Authors: S. Palmer, Ellen M Wijsman, Stephen W. Scherer, Mary K. Kukolich, Lap-chee Tsui, Karen Stephens, James P. EvansAbstract:Resumen Objetivo Valorar la efectividad de un equivalente cutaneo disenado en un banco de tejidos, en el tratamiento de ulceras vasculares cronicas. Pacientes y metodos Entre septiembre de 1999 y diciembre de 2001 se incluyo a 25 pacientes con ulceras vasculares de evolucion torpida (>4 meses) en quienes, tras ingreso hospitalario y tratamiento estandar, se objetivo un estancamiento en su cicatrizacion. Se constataron nueve ulceras venosas, dos arteriales, siete hipertensivas y siete mixtas (componente flebostatico y arterial). Descartada la infeccion clinica y bacteriologica de la ulcera, los injertos se colocaron una vez a la semana hasta la cicatrizacion o suspension del tratamiento por no respuesta. Se realizaron controles fotograficos digitales semanales para medir el area de las lesiones. A partir del segundo injerto, el tratamiento se realizo ambulatoriamente. El seguimiento medio fue de 18 meses (intervalo: 6-30 meses). Se valoro la ausencia de rechazo, la tasa decicatrizacion, el tiempo dereduccion del area al 50 y 75%, y la recidiva ulcerosa. Resultados No se detectaron signos de rechazo. Tasa global de cicatrizacion del 80% (20/25); en hipertensivas y mixtas, tasa del 100% (14/14). Tiempo medio de cierre: 5,3 semanas (intervalo: 3-12 semanas). Numero medio de injertos utilizados: 5,8 (intervalo: 3-13 injertos). La recidiva ulcerosa fue del 25% (cuatro venosas y una hipertensiva). De las cinco ulceras que no cicatrizaron (cuatro venosas y una arterial), ninguna empeoro: en tres no hubo respuesta y en dos se redujo el area mas de un 85%. Conclusiones Los equivalentes cutaneos podrian constituir una buena alternativa en el tratamiento de ulceras vasculares cronicas.
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Evidence for Locus Heterogeneity in human autosomal dominant split hand/split foot malformation.
American journal of human genetics, 1994Co-Authors: S. Palmer, Ellen M Wijsman, Stephen W. Scherer, Mary K. Kukolich, Lap-chee Tsui, Karen Stephens, James P. EvansAbstract:Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the Locus has been designated SHFD1. In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region. Combined genetic and physical data suggest that the order of markers in the SHFD1 critical region is cen-D7S492-D7S527-(D7S479-D7S491)-SHFD1-++ +D7S554-D7S518-qter. Dinucleotide repeat polymorphisms at three of these loci were used to test for linkage of SHSF to this region in a large pedigree that demonstrates autosomal dominant SHSF. Evidence against linkage of the SHSF gene to 7q21-q22 was obtained in this pedigree. Therefore, combined molecular and genetic data provide evidence for Locus Heterogeneity in autosomal dominant SHSF. We propose the name SHSF2 for this second Locus.
S. Palmer - One of the best experts on this subject based on the ideXlab platform.
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evidence for Locus Heterogeneity in human autosomal dominant split hand split foot malformation
American Journal of Human Genetics, 2003Co-Authors: S. Palmer, Ellen M Wijsman, Stephen W. Scherer, Mary K. Kukolich, Lap-chee Tsui, Karen Stephens, James P. EvansAbstract:Resumen Objetivo Valorar la efectividad de un equivalente cutaneo disenado en un banco de tejidos, en el tratamiento de ulceras vasculares cronicas. Pacientes y metodos Entre septiembre de 1999 y diciembre de 2001 se incluyo a 25 pacientes con ulceras vasculares de evolucion torpida (>4 meses) en quienes, tras ingreso hospitalario y tratamiento estandar, se objetivo un estancamiento en su cicatrizacion. Se constataron nueve ulceras venosas, dos arteriales, siete hipertensivas y siete mixtas (componente flebostatico y arterial). Descartada la infeccion clinica y bacteriologica de la ulcera, los injertos se colocaron una vez a la semana hasta la cicatrizacion o suspension del tratamiento por no respuesta. Se realizaron controles fotograficos digitales semanales para medir el area de las lesiones. A partir del segundo injerto, el tratamiento se realizo ambulatoriamente. El seguimiento medio fue de 18 meses (intervalo: 6-30 meses). Se valoro la ausencia de rechazo, la tasa decicatrizacion, el tiempo dereduccion del area al 50 y 75%, y la recidiva ulcerosa. Resultados No se detectaron signos de rechazo. Tasa global de cicatrizacion del 80% (20/25); en hipertensivas y mixtas, tasa del 100% (14/14). Tiempo medio de cierre: 5,3 semanas (intervalo: 3-12 semanas). Numero medio de injertos utilizados: 5,8 (intervalo: 3-13 injertos). La recidiva ulcerosa fue del 25% (cuatro venosas y una hipertensiva). De las cinco ulceras que no cicatrizaron (cuatro venosas y una arterial), ninguna empeoro: en tres no hubo respuesta y en dos se redujo el area mas de un 85%. Conclusiones Los equivalentes cutaneos podrian constituir una buena alternativa en el tratamiento de ulceras vasculares cronicas.
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Evidence for Locus Heterogeneity in human autosomal dominant split hand/split foot malformation.
American journal of human genetics, 1994Co-Authors: S. Palmer, Ellen M Wijsman, Stephen W. Scherer, Mary K. Kukolich, Lap-chee Tsui, Karen Stephens, James P. EvansAbstract:Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the Locus has been designated SHFD1. In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region. Combined genetic and physical data suggest that the order of markers in the SHFD1 critical region is cen-D7S492-D7S527-(D7S479-D7S491)-SHFD1-++ +D7S554-D7S518-qter. Dinucleotide repeat polymorphisms at three of these loci were used to test for linkage of SHSF to this region in a large pedigree that demonstrates autosomal dominant SHSF. Evidence against linkage of the SHSF gene to 7q21-q22 was obtained in this pedigree. Therefore, combined molecular and genetic data provide evidence for Locus Heterogeneity in autosomal dominant SHSF. We propose the name SHSF2 for this second Locus.
Ellen M Wijsman - One of the best experts on this subject based on the ideXlab platform.
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evidence for Locus Heterogeneity in human autosomal dominant split hand split foot malformation
American Journal of Human Genetics, 2003Co-Authors: S. Palmer, Ellen M Wijsman, Stephen W. Scherer, Mary K. Kukolich, Lap-chee Tsui, Karen Stephens, James P. EvansAbstract:Resumen Objetivo Valorar la efectividad de un equivalente cutaneo disenado en un banco de tejidos, en el tratamiento de ulceras vasculares cronicas. Pacientes y metodos Entre septiembre de 1999 y diciembre de 2001 se incluyo a 25 pacientes con ulceras vasculares de evolucion torpida (>4 meses) en quienes, tras ingreso hospitalario y tratamiento estandar, se objetivo un estancamiento en su cicatrizacion. Se constataron nueve ulceras venosas, dos arteriales, siete hipertensivas y siete mixtas (componente flebostatico y arterial). Descartada la infeccion clinica y bacteriologica de la ulcera, los injertos se colocaron una vez a la semana hasta la cicatrizacion o suspension del tratamiento por no respuesta. Se realizaron controles fotograficos digitales semanales para medir el area de las lesiones. A partir del segundo injerto, el tratamiento se realizo ambulatoriamente. El seguimiento medio fue de 18 meses (intervalo: 6-30 meses). Se valoro la ausencia de rechazo, la tasa decicatrizacion, el tiempo dereduccion del area al 50 y 75%, y la recidiva ulcerosa. Resultados No se detectaron signos de rechazo. Tasa global de cicatrizacion del 80% (20/25); en hipertensivas y mixtas, tasa del 100% (14/14). Tiempo medio de cierre: 5,3 semanas (intervalo: 3-12 semanas). Numero medio de injertos utilizados: 5,8 (intervalo: 3-13 injertos). La recidiva ulcerosa fue del 25% (cuatro venosas y una hipertensiva). De las cinco ulceras que no cicatrizaron (cuatro venosas y una arterial), ninguna empeoro: en tres no hubo respuesta y en dos se redujo el area mas de un 85%. Conclusiones Los equivalentes cutaneos podrian constituir una buena alternativa en el tratamiento de ulceras vasculares cronicas.
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evaluation of Locus Heterogeneity and ext1 mutations in 34 families with hereditary multiple exostoses
Human Mutation, 1998Co-Authors: Wendy H. Raskind, Nicola H Chapman, Ellen M Wijsman, Linda J. Sandell, Dan E. Wells, Mark Matsushita, Ernest U Conrad, Michael J. Wagner, James R. HouckAbstract:Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by growth of benign bone tumors. Three chromosomal loci have been implicated in this genetically heterogeneous disease: EXT1 at 8q24, EXT2 at 11p13, and EXT3 on 19p. EXT1 and EXT2 were recently cloned. We evaluated 34 families with EXT to estimate the proportion of disease attributable to EXT1, EXT2, and EXT3 and to investigate the spectrum of EXT1 mutations. Linkage analyses combined with Heterogeneity testing provides strong evidence in favor of linkage of disease to both chromosomes 8 and 11, but does not support evidence of linkage to chromosome 19 in this data set. The 11 EXT1 exons were PCR-amplified and sequenced in all 11 isolated cases and in 20 of the 23 familial cases. Twelve different novel EXT1 mutations were detected, including 5 frame-shift deletions or insertions, 1 codon deletion, and 6 single base-pair substitutions distributed across 8 of the exons. Only 2 of the mutations were detected in more than one family. Three mutations affect sites in which alterations were previously reported. Nonchain-terminating missense mutations were identified in codons 280 and 340, both coding for conserved arginine residues. These residues may be crucial to the function of this protein. Although the prevalence of EXT has been estimated to be approximately 1/50,000 individuals, the disease has been reported to occur much more frequently in the Chamorro natives on Guam. Our detection of an EXT1 mutation in one Chamorro subject will allow investigation of a possible founder effect in this population. Combined mutational and Heterogeneity analyses in this set of families with multiple exostoses suggest that 66% of our total sample, including 45% of isolated and 77% of familial cases, are attributable to abnormalities in EXT1. Hum Mutat 11:231–239, 1998. © 1998 Wiley-Liss, Inc.
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Evidence for Locus Heterogeneity in human autosomal dominant split hand/split foot malformation.
American journal of human genetics, 1994Co-Authors: S. Palmer, Ellen M Wijsman, Stephen W. Scherer, Mary K. Kukolich, Lap-chee Tsui, Karen Stephens, James P. EvansAbstract:Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the Locus has been designated SHFD1. In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region. Combined genetic and physical data suggest that the order of markers in the SHFD1 critical region is cen-D7S492-D7S527-(D7S479-D7S491)-SHFD1-++ +D7S554-D7S518-qter. Dinucleotide repeat polymorphisms at three of these loci were used to test for linkage of SHSF to this region in a large pedigree that demonstrates autosomal dominant SHSF. Evidence against linkage of the SHSF gene to 7q21-q22 was obtained in this pedigree. Therefore, combined molecular and genetic data provide evidence for Locus Heterogeneity in autosomal dominant SHSF. We propose the name SHSF2 for this second Locus.
Stephen W. Scherer - One of the best experts on this subject based on the ideXlab platform.
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Genetic mapping of a new Lafora progressive myoclonus epilepsy Locus (EPM2B) on 6p22
Journal of medical genetics, 2003Co-Authors: Elayne M. Chan, Andrew D. Paterson, Stephen W. Scherer, Guy A. Rouleau, Dennis E. Bulman, Julie Turnbull, Eva Andermann, F Andermann, Antonio V. Delgado-escueta, Berge A. MinassianAbstract:Lafora disease is a progressive myoclonus epilepsy with polyglucosan accumulations and a peculiar neurodegeneration with generalised organellar disintegration. It causes severe seizures, leading to dementia and eventually death in early adulthood. One Lafora disease gene, EPM2A, has been identified on chromosome 6q24. Locus Heterogeneity led us to search for a second gene using a genome wide linkage scan in French-Canadian families. We mapped a second Lafora disease Locus, EPM2B, to a 2.2 Mb region at 6p22, a region known to code for several proteins, including kinesins. Kinesins are microtubule dependent motor proteins that are involved in transporting cellular components. In neurones, they play a major role in axonal and dendritic transport. Analysis of the present Locus in other non-EPM2A families will reveal whether there is further Locus Heterogeneity. Identification of the disease gene will be of major importance towards our understanding of the pathogenesis of Lafora disease.
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evidence for Locus Heterogeneity in human autosomal dominant split hand split foot malformation
American Journal of Human Genetics, 2003Co-Authors: S. Palmer, Ellen M Wijsman, Stephen W. Scherer, Mary K. Kukolich, Lap-chee Tsui, Karen Stephens, James P. EvansAbstract:Resumen Objetivo Valorar la efectividad de un equivalente cutaneo disenado en un banco de tejidos, en el tratamiento de ulceras vasculares cronicas. Pacientes y metodos Entre septiembre de 1999 y diciembre de 2001 se incluyo a 25 pacientes con ulceras vasculares de evolucion torpida (>4 meses) en quienes, tras ingreso hospitalario y tratamiento estandar, se objetivo un estancamiento en su cicatrizacion. Se constataron nueve ulceras venosas, dos arteriales, siete hipertensivas y siete mixtas (componente flebostatico y arterial). Descartada la infeccion clinica y bacteriologica de la ulcera, los injertos se colocaron una vez a la semana hasta la cicatrizacion o suspension del tratamiento por no respuesta. Se realizaron controles fotograficos digitales semanales para medir el area de las lesiones. A partir del segundo injerto, el tratamiento se realizo ambulatoriamente. El seguimiento medio fue de 18 meses (intervalo: 6-30 meses). Se valoro la ausencia de rechazo, la tasa decicatrizacion, el tiempo dereduccion del area al 50 y 75%, y la recidiva ulcerosa. Resultados No se detectaron signos de rechazo. Tasa global de cicatrizacion del 80% (20/25); en hipertensivas y mixtas, tasa del 100% (14/14). Tiempo medio de cierre: 5,3 semanas (intervalo: 3-12 semanas). Numero medio de injertos utilizados: 5,8 (intervalo: 3-13 injertos). La recidiva ulcerosa fue del 25% (cuatro venosas y una hipertensiva). De las cinco ulceras que no cicatrizaron (cuatro venosas y una arterial), ninguna empeoro: en tres no hubo respuesta y en dos se redujo el area mas de un 85%. Conclusiones Los equivalentes cutaneos podrian constituir una buena alternativa en el tratamiento de ulceras vasculares cronicas.
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Evidence for Locus Heterogeneity in human autosomal dominant split hand/split foot malformation.
American journal of human genetics, 1994Co-Authors: S. Palmer, Ellen M Wijsman, Stephen W. Scherer, Mary K. Kukolich, Lap-chee Tsui, Karen Stephens, James P. EvansAbstract:Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the Locus has been designated SHFD1. In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region. Combined genetic and physical data suggest that the order of markers in the SHFD1 critical region is cen-D7S492-D7S527-(D7S479-D7S491)-SHFD1-++ +D7S554-D7S518-qter. Dinucleotide repeat polymorphisms at three of these loci were used to test for linkage of SHSF to this region in a large pedigree that demonstrates autosomal dominant SHSF. Evidence against linkage of the SHSF gene to 7q21-q22 was obtained in this pedigree. Therefore, combined molecular and genetic data provide evidence for Locus Heterogeneity in autosomal dominant SHSF. We propose the name SHSF2 for this second Locus.
Mary K. Kukolich - One of the best experts on this subject based on the ideXlab platform.
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evidence for Locus Heterogeneity in human autosomal dominant split hand split foot malformation
American Journal of Human Genetics, 2003Co-Authors: S. Palmer, Ellen M Wijsman, Stephen W. Scherer, Mary K. Kukolich, Lap-chee Tsui, Karen Stephens, James P. EvansAbstract:Resumen Objetivo Valorar la efectividad de un equivalente cutaneo disenado en un banco de tejidos, en el tratamiento de ulceras vasculares cronicas. Pacientes y metodos Entre septiembre de 1999 y diciembre de 2001 se incluyo a 25 pacientes con ulceras vasculares de evolucion torpida (>4 meses) en quienes, tras ingreso hospitalario y tratamiento estandar, se objetivo un estancamiento en su cicatrizacion. Se constataron nueve ulceras venosas, dos arteriales, siete hipertensivas y siete mixtas (componente flebostatico y arterial). Descartada la infeccion clinica y bacteriologica de la ulcera, los injertos se colocaron una vez a la semana hasta la cicatrizacion o suspension del tratamiento por no respuesta. Se realizaron controles fotograficos digitales semanales para medir el area de las lesiones. A partir del segundo injerto, el tratamiento se realizo ambulatoriamente. El seguimiento medio fue de 18 meses (intervalo: 6-30 meses). Se valoro la ausencia de rechazo, la tasa decicatrizacion, el tiempo dereduccion del area al 50 y 75%, y la recidiva ulcerosa. Resultados No se detectaron signos de rechazo. Tasa global de cicatrizacion del 80% (20/25); en hipertensivas y mixtas, tasa del 100% (14/14). Tiempo medio de cierre: 5,3 semanas (intervalo: 3-12 semanas). Numero medio de injertos utilizados: 5,8 (intervalo: 3-13 injertos). La recidiva ulcerosa fue del 25% (cuatro venosas y una hipertensiva). De las cinco ulceras que no cicatrizaron (cuatro venosas y una arterial), ninguna empeoro: en tres no hubo respuesta y en dos se redujo el area mas de un 85%. Conclusiones Los equivalentes cutaneos podrian constituir una buena alternativa en el tratamiento de ulceras vasculares cronicas.
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Evidence for Locus Heterogeneity in human autosomal dominant split hand/split foot malformation.
American journal of human genetics, 1994Co-Authors: S. Palmer, Ellen M Wijsman, Stephen W. Scherer, Mary K. Kukolich, Lap-chee Tsui, Karen Stephens, James P. EvansAbstract:Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the Locus has been designated SHFD1. In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region. Combined genetic and physical data suggest that the order of markers in the SHFD1 critical region is cen-D7S492-D7S527-(D7S479-D7S491)-SHFD1-++ +D7S554-D7S518-qter. Dinucleotide repeat polymorphisms at three of these loci were used to test for linkage of SHSF to this region in a large pedigree that demonstrates autosomal dominant SHSF. Evidence against linkage of the SHSF gene to 7q21-q22 was obtained in this pedigree. Therefore, combined molecular and genetic data provide evidence for Locus Heterogeneity in autosomal dominant SHSF. We propose the name SHSF2 for this second Locus.
