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1. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Author

Hu, H., Haas, S. A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A. P. M., Weinert, S., Froyen, G., Frints, S. G. M., Laumonnier, F., Zemojtel, T., Love, M. I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M. A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K. L., Belet, S., van Roozendaal, K. E. P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., Van Boemmel, A., Goeke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Mueller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bielenska, A., Ousager, L. B., Wieacker, P., Criado, G. Rodriguez, Bondeson, Marie-Louise, Annerén, Göran, Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T. F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T. J., Chen, W., Ropers, H-H, Kalscheuer, V. M., Hu, H., Haas, S. A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A. P. M., Weinert, S., Froyen, G., Frints, S. G. M., Laumonnier, F., Zemojtel, T., Love, M. I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M. A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K. L., Belet, S., van Roozendaal, K. E. P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., Van Boemmel, A., Goeke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Mueller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bielenska, A., Ousager, L. B., Wieacker, P., Criado, G. Rodriguez, Bondeson, Marie-Louise, Annerén, Göran, Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T. F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T. J., Chen, W., Ropers, H-H, and Kalscheuer, V. M.

Abstract

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.

Published
2016
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2. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Author

Hu, H., Haas, S.A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A.P.M., Weinert, S., Froyen, G., Frints, S.G M, Laumonnier, F., Zemojtel, T., Love, M.I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M.A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K.L., Belet, S., van Roozendaal, K.E.P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., van Bömmel, A., Göke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Müller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bieleńska, A., Ousager, L.B., Wieacker, P., Rodríguez Criado, G., Bondeson, M-L, Annerén, G., Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T.F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T.J., Chen, W., Ropers, H-H, Kalscheuer, V.M., Hu, H., Haas, S.A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A.P.M., Weinert, S., Froyen, G., Frints, S.G M, Laumonnier, F., Zemojtel, T., Love, M.I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M.A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K.L., Belet, S., van Roozendaal, K.E.P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., van Bömmel, A., Göke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Müller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bieleńska, A., Ousager, L.B., Wieacker, P., Rodríguez Criado, G., Bondeson, M-L, Annerén, G., Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T.F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T.J., Chen, W., Ropers, H-H, and Kalscheuer, V.M.

Abstract

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4−/− mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.

Published
2016

3. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Author

Hu, H., Haas, S.A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A.P.M., Weinert, S., Froyen, G., Frints, S.G M, Laumonnier, F., Zemojtel, T., Love, M.I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M.A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K.L., Belet, S., van Roozendaal, K.E.P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., van Bömmel, A., Göke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Müller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bieleńska, A., Ousager, L.B., Wieacker, P., Rodríguez Criado, G., Bondeson, M-L, Annerén, G., Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T.F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T.J., Chen, W., Ropers, H-H, Kalscheuer, V.M., Hu, H., Haas, S.A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A.P.M., Weinert, S., Froyen, G., Frints, S.G M, Laumonnier, F., Zemojtel, T., Love, M.I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M.A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K.L., Belet, S., van Roozendaal, K.E.P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., van Bömmel, A., Göke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Müller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bieleńska, A., Ousager, L.B., Wieacker, P., Rodríguez Criado, G., Bondeson, M-L, Annerén, G., Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T.F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T.J., Chen, W., Ropers, H-H, and Kalscheuer, V.M.

Abstract

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4−/− mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.

Published
2016

4. Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly

Author

Erdogan, F, Belloso, J M, Gabau, E, Ajbro, K D, Guitart, M, Ropers, H H, Tommerup, Niels, Ullmann, R, Tümer, Z, Larsen, Lars Allan, Erdogan, F, Belloso, J M, Gabau, E, Ajbro, K D, Guitart, M, Ropers, H H, Tommerup, Niels, Ullmann, R, Tümer, Z, and Larsen, Lars Allan

Abstract

Udgivelsesdato: null-null, In this study we report a female patient with an interstitial duplication of a region (10q22-q23) which is rarely reported in the literature. We fine mapped the aberration with array CGH, which revealed an 18.6-Mb duplication, covering 89 annotated genes, at 10q22.2-q23.33. There were no other deletions or duplications elsewhere in the genome. The main clinical features of the patient are microcephaly and congenital heart disease, which are likely to be caused by dosage effect of one or several genes in the duplicated region. Similar phenotypes have been found in other patients with 10q11-q22 duplications and in two out of three patients with 10q22-q25 duplications. However, most of the duplication cases were investigated only by conventional chromosome analyses, and fine mapping of these and other duplications of 10q22-q23 are warranted for genotype-phenotype comparisons.

Published
2008

5. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

Author

Erdogan, F, Larsen, Lars Allan, Zhang, L, Tümer, Z, Tommerup, N, Chen, W, Jacobsen, J R, Schubert, M, Jurkatis, J, Tzschach, A, Ropers, H-H, Ullmann, R, Erdogan, F, Larsen, Lars Allan, Zhang, L, Tümer, Z, Tommerup, N, Chen, W, Jacobsen, J R, Schubert, M, Jurkatis, J, Tzschach, A, Ropers, H-H, and Ullmann, R

Abstract

Udgivelsesdato: 2008-Nov, BACKGROUND: Congenital heart disease (CHD) is the most common birth defect and affects nearly 1% of newborns. The aetiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnancy. Chromosomal imbalances have been identified in many forms of syndromic CHD, but very little is known about the impact of DNA copy number changes in non-syndromic CHD. METHOD: A sub-megabase resolution array comparative genome hybridisation (CGH) screen was carried out on 105 patients with CHD as the sole abnormality at the time of diagnosis. RESULTS: There were 18 chromosomal changes detected, which do not coincide with common DNA copy number variants, including one de novo deletion, two de novo duplications and eight familial copy number variations (one deletion and seven duplications). CONCLUSIONS: Our data show that submicroscopic deletions and duplications play an important role in the aetiology of this condition, either as direct causes or as genetic risk factors for CHD. These findings have immediate consequences for genetic counselling and should pave the way for the elucidation of the pathogenetic mechanisms underlying CHD.

Published
2008

6. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

Author

Erdogan, F, Larsen, Lars Allan, Zhang, L, Tümer, Z, Tommerup, N, Chen, W, Jacobsen, J R, Schubert, M, Jurkatis, J, Tzschach, A, Ropers, H-H, Ullmann, R, Erdogan, F, Larsen, Lars Allan, Zhang, L, Tümer, Z, Tommerup, N, Chen, W, Jacobsen, J R, Schubert, M, Jurkatis, J, Tzschach, A, Ropers, H-H, and Ullmann, R

Abstract

Udgivelsesdato: 2008-Nov, BACKGROUND: Congenital heart disease (CHD) is the most common birth defect and affects nearly 1% of newborns. The aetiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnancy. Chromosomal imbalances have been identified in many forms of syndromic CHD, but very little is known about the impact of DNA copy number changes in non-syndromic CHD. METHOD: A sub-megabase resolution array comparative genome hybridisation (CGH) screen was carried out on 105 patients with CHD as the sole abnormality at the time of diagnosis. RESULTS: There were 18 chromosomal changes detected, which do not coincide with common DNA copy number variants, including one de novo deletion, two de novo duplications and eight familial copy number variations (one deletion and seven duplications). CONCLUSIONS: Our data show that submicroscopic deletions and duplications play an important role in the aetiology of this condition, either as direct causes or as genetic risk factors for CHD. These findings have immediate consequences for genetic counselling and should pave the way for the elucidation of the pathogenetic mechanisms underlying CHD.

Published
2008

7. Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly

Author

Erdogan, F, Belloso, J M, Gabau, E, Ajbro, K D, Guitart, M, Ropers, H H, Tommerup, Niels, Ullmann, R, Tümer, Z, Larsen, Lars Allan, Erdogan, F, Belloso, J M, Gabau, E, Ajbro, K D, Guitart, M, Ropers, H H, Tommerup, Niels, Ullmann, R, Tümer, Z, and Larsen, Lars Allan

Abstract

Udgivelsesdato: null-null, In this study we report a female patient with an interstitial duplication of a region (10q22-q23) which is rarely reported in the literature. We fine mapped the aberration with array CGH, which revealed an 18.6-Mb duplication, covering 89 annotated genes, at 10q22.2-q23.33. There were no other deletions or duplications elsewhere in the genome. The main clinical features of the patient are microcephaly and congenital heart disease, which are likely to be caused by dosage effect of one or several genes in the duplicated region. Similar phenotypes have been found in other patients with 10q11-q22 duplications and in two out of three patients with 10q22-q25 duplications. However, most of the duplication cases were investigated only by conventional chromosome analyses, and fine mapping of these and other duplications of 10q22-q23 are warranted for genotype-phenotype comparisons.

Published
2008

8. Breakpoints around the HOXD cluster result in various limb malformations

Author

Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, Malene, Mundlos, S, Tümer, Z, Kjær, Klaus Wilbrandt, Friedrich, U, Ropers, H-H, Tommerup, N, Neitzel, H, Kalscheuer, V M, Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, Malene, Mundlos, S, Tümer, Z, Kjær, Klaus Wilbrandt, Friedrich, U, Ropers, H-H, Tommerup, N, Neitzel, H, and Kalscheuer, V M

Abstract

Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.

Published
2006

9. Breakpoints around the HOXD cluster result in various limb malformations

Author

Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, Malene, Mundlos, S, Tümer, Z, Kjær, Klaus Wilbrandt, Friedrich, U, Ropers, H-H, Tommerup, N, Neitzel, H, Kalscheuer, V M, Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, Malene, Mundlos, S, Tümer, Z, Kjær, Klaus Wilbrandt, Friedrich, U, Ropers, H-H, Tommerup, N, Neitzel, H, and Kalscheuer, V M

Abstract

Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.

Published
2006

10. Breakpoints around the HOXD cluster result in various limb malformations

Author

Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, Malene, Mundlos, S, Tümer, Z, Kjær, Klaus Wilbrandt, Friedrich, U, Ropers, H-H, Tommerup, N, Neitzel, H, Kalscheuer, V M, Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, Malene, Mundlos, S, Tümer, Z, Kjær, Klaus Wilbrandt, Friedrich, U, Ropers, H-H, Tommerup, N, Neitzel, H, and Kalscheuer, V M

Abstract

Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.

Published
2006

11. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

Author

Wirth, J, Nothwang, H G, van der Maarel, S, Menzel, C, Borck, G, Lopez-Pajares, I, Brøndum-Nielsen, K, Tommerup, Niels, Bugge, M, Ropers, H H, Haaf, T, Wirth, J, Nothwang, H G, van der Maarel, S, Menzel, C, Borck, G, Lopez-Pajares, I, Brøndum-Nielsen, K, Tommerup, Niels, Bugge, M, Ropers, H H, and Haaf, T

Abstract

Udgivelsesdato: 1999-Apr, Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 non-chimeric, cytogenetically and genetically anchored CEPH YACs, on average one per 3 cM, spaced over the entire human genome. By fluorescence in situ hybridisation (FISH), we have performed a systematic search for YACs spanning translocation breakpoints. Patients with DBCRs and either syndromic or non-syndromic mental retardation (MR) were ascertained through the Mendelian Cytogenetics Network (MCN), a collaborative effort of, at present, 270 cytogenetic laboratories throughout the world. In this pilot study, we have characterised 10 different MR associated chromosome regions delineating candidate regions for MR. Five of these regions are narrowed to breakpoint spanning YACs, three of which are located on chromosomes 13q21, 13q22, and 13q32, respectively, one on chromosome 4p14, and one on 6q25. In two out of six DBCRs, we found cytogenetically cryptic deletions of 3-5 Mb on one or both translocation chromosomes. Thus, cryptic deletions may be an important cause of disease in seemingly balanced chromosome rearrangements that are associated with a disease phenotype. Our region specific FISH probes, which are available to MCN members, can be a powerful tool in clinical cytogenetics and positional cloning.

Published
1999

12. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

Author

Wirth, J, Nothwang, H G, van der Maarel, S, Menzel, C, Borck, G, Lopez-Pajares, I, Brøndum-Nielsen, K, Tommerup, Niels, Bugge, M, Ropers, H H, Haaf, T, Wirth, J, Nothwang, H G, van der Maarel, S, Menzel, C, Borck, G, Lopez-Pajares, I, Brøndum-Nielsen, K, Tommerup, Niels, Bugge, M, Ropers, H H, and Haaf, T

Abstract

Udgivelsesdato: 1999-Apr, Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 non-chimeric, cytogenetically and genetically anchored CEPH YACs, on average one per 3 cM, spaced over the entire human genome. By fluorescence in situ hybridisation (FISH), we have performed a systematic search for YACs spanning translocation breakpoints. Patients with DBCRs and either syndromic or non-syndromic mental retardation (MR) were ascertained through the Mendelian Cytogenetics Network (MCN), a collaborative effort of, at present, 270 cytogenetic laboratories throughout the world. In this pilot study, we have characterised 10 different MR associated chromosome regions delineating candidate regions for MR. Five of these regions are narrowed to breakpoint spanning YACs, three of which are located on chromosomes 13q21, 13q22, and 13q32, respectively, one on chromosome 4p14, and one on 6q25. In two out of six DBCRs, we found cytogenetically cryptic deletions of 3-5 Mb on one or both translocation chromosomes. Thus, cryptic deletions may be an important cause of disease in seemingly balanced chromosome rearrangements that are associated with a disease phenotype. Our region specific FISH probes, which are available to MCN members, can be a powerful tool in clinical cytogenetics and positional cloning.

Published
1999

13. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

Author

Wirth, J, Nothwang, H G, van der Maarel, S, Menzel, C, Borck, G, Lopez-Pajares, I, Brøndum-Nielsen, K, Tommerup, Niels, Bugge, M, Ropers, H H, Haaf, T, Wirth, J, Nothwang, H G, van der Maarel, S, Menzel, C, Borck, G, Lopez-Pajares, I, Brøndum-Nielsen, K, Tommerup, Niels, Bugge, M, Ropers, H H, and Haaf, T

Abstract

Udgivelsesdato: 1999-Apr, Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 non-chimeric, cytogenetically and genetically anchored CEPH YACs, on average one per 3 cM, spaced over the entire human genome. By fluorescence in situ hybridisation (FISH), we have performed a systematic search for YACs spanning translocation breakpoints. Patients with DBCRs and either syndromic or non-syndromic mental retardation (MR) were ascertained through the Mendelian Cytogenetics Network (MCN), a collaborative effort of, at present, 270 cytogenetic laboratories throughout the world. In this pilot study, we have characterised 10 different MR associated chromosome regions delineating candidate regions for MR. Five of these regions are narrowed to breakpoint spanning YACs, three of which are located on chromosomes 13q21, 13q22, and 13q32, respectively, one on chromosome 4p14, and one on 6q25. In two out of six DBCRs, we found cytogenetically cryptic deletions of 3-5 Mb on one or both translocation chromosomes. Thus, cryptic deletions may be an important cause of disease in seemingly balanced chromosome rearrangements that are associated with a disease phenotype. Our region specific FISH probes, which are available to MCN members, can be a powerful tool in clinical cytogenetics and positional cloning.

Published
1999

14. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene

Author

Hurk, J.A.J.M. van den, Schwartz, M., Bokhoven, H. van, Pol, T.J.R. van de, Bogerd, L., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Pawlowitzki, I.H., Rüther, K., Ropers, H.-H., Cremers, F.P.M., Hurk, J.A.J.M. van den, Schwartz, M., Bokhoven, H. van, Pol, T.J.R. van de, Bogerd, L., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Pawlowitzki, I.H., Rüther, K., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 24428___.PDF (publisher's version ) (Open Access)

Published
1997

16. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline

Author

Hurk, J.A.J.M. van den, Hendriks, W.J.A.J., Pol, D.J.R. van de, Oerlemans, F., Jaissle, G., Rüther, K., Kohler, K., Hartmann, J., Zrenner, E., Bokhoven, J. van, Wieringa, B., Ropers, H.-H., Cremers, F.P.M., Hurk, J.A.J.M. van den, Hendriks, W.J.A.J., Pol, D.J.R. van de, Oerlemans, F., Jaissle, G., Rüther, K., Kohler, K., Hartmann, J., Zrenner, E., Bokhoven, J. van, Wieringa, B., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 24452___.PDF (publisher's version ) (Open Access)

Published
1997

17. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene

Author

Hurk, J.A.J.M. van den, Schwartz, M., Bokhoven, H. van, Pol, T.J.R. van de, Bogerd, L., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Pawlowitzki, I.H., Rüther, K., Ropers, H.-H., Cremers, F.P.M., Hurk, J.A.J.M. van den, Schwartz, M., Bokhoven, H. van, Pol, T.J.R. van de, Bogerd, L., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Pawlowitzki, I.H., Rüther, K., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 24428___.PDF (publisher's version ) (Open Access)

Published
1997

19. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline

Author

Hurk, J.A.J.M. van den, Hendriks, W.J.A.J., Pol, D.J.R. van de, Oerlemans, F., Jaissle, G., Rüther, K., Kohler, K., Hartmann, J., Zrenner, E., Bokhoven, J. van, Wieringa, B., Ropers, H.-H., Cremers, F.P.M., Hurk, J.A.J.M. van den, Hendriks, W.J.A.J., Pol, D.J.R. van de, Oerlemans, F., Jaissle, G., Rüther, K., Kohler, K., Hartmann, J., Zrenner, E., Bokhoven, J. van, Wieringa, B., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 24452___.PDF (publisher's version ) (Open Access)

Published
1997

21. Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood

Author

Kremer, H., Hamel, B.C.J., Helm, B. van den, Arts, W.F.M., Wijs, I.J. de, Sistermans, E.A., Ropers, H.-H., Mariman, E.C.M., Kremer, H., Hamel, B.C.J., Helm, B. van den, Arts, W.F.M., Wijs, I.J. de, Sistermans, E.A., Ropers, H.-H., and Mariman, E.C.M.

Abstract

Contains fulltext : 24257___.PDF (publisher's version ) (Open Access)

Published
1996

22. Positional cloning of the gene for X-linked retinitis pigmentosa : homology with the guanine-nucleotide-exchange factor RCC1

Author

Roepman, R., Duijnhoven, G. van, Rosenberg, T., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Bergen, A.A.B., Post, J., Beck, A., Reinhardt, R., Ropers, H.-H., Cremers, F.P.M., Berger, W., Roepman, R., Duijnhoven, G. van, Rosenberg, T., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Bergen, A.A.B., Post, J., Beck, A., Reinhardt, R., Ropers, H.-H., Cremers, F.P.M., and Berger, W.

Abstract

Contains fulltext : 22748___.PDF (publisher's version ) (Open Access)

Published
1996

23. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

Author

Kok, Y.J.M. de, Vossenaar, E.R., Cremers, C.W.R.J., Dahl, N., Laporte, J., Hu, L.J., Lacombe, D., Fischel-Ghodsian, N., Friedman, R.A., Parnes, L.S., Thorpe, P., Bitner-Glindzicz, M., Pander, H.-J., Heilbronner, H., Graveline, J., Dunnen, J.T. den, Brunner, H.G., Ropers, H.-H., Cremers, F.P.M., Kok, Y.J.M. de, Vossenaar, E.R., Cremers, C.W.R.J., Dahl, N., Laporte, J., Hu, L.J., Lacombe, D., Fischel-Ghodsian, N., Friedman, R.A., Parnes, L.S., Thorpe, P., Bitner-Glindzicz, M., Pander, H.-J., Heilbronner, H., Graveline, J., Dunnen, J.T. den, Brunner, H.G., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 24064___.PDF (publisher's version ) (Open Access)

Published
1996

24. An animal model for Norrie disease (ND): gene targeting of the mouse ND gene

Author

Berger, W., Pol, D. van der, Bächner, D., Winkens, H., Oerlemans, F., Hameister, H., Wieringa, B., Hendriks, W.J.A.J., Ropers, H.-H., Berger, W., Pol, D. van der, Bächner, D., Winkens, H., Oerlemans, F., Hameister, H., Wieringa, B., Hendriks, W.J.A.J., and Ropers, H.-H.

Abstract

Contains fulltext : 22729___.PDF (publisher's version ) (Open Access)

Published
1996

25. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)

Author

Roepman, R., Bauer, D., Rosenberg, T., Duijnhoven, G. van, Vosse, E. van de, Platzer, M., Rosenthal, A., Ropers, H.-H., Cremers, F.P.M., Berger, W., Roepman, R., Bauer, D., Rosenberg, T., Duijnhoven, G. van, Vosse, E. van de, Platzer, M., Rosenthal, A., Ropers, H.-H., Cremers, F.P.M., and Berger, W.

Abstract

Contains fulltext : 24063___.PDF (publisher's version ) (Open Access)

Published
1996

26. Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

Author

Maarel, S.M. van der, Scholten, I.H.J.M., Huber, I., Philippe, C., Suijkerbuijk, R.F., Gilgenkrantz, S., Kere, J., Cremers, F.P.M., Ropers, H.-H., Maarel, S.M. van der, Scholten, I.H.J.M., Huber, I., Philippe, C., Suijkerbuijk, R.F., Gilgenkrantz, S., Kere, J., Cremers, F.P.M., and Ropers, H.-H.

Abstract

Contains fulltext : 23529___.PDF (publisher's version ) (Open Access)

Published
1996

27. Positional cloning of the gene for X-linked retinitis pigmentosa : homology with the guanine-nucleotide-exchange factor RCC1

Author

Roepman, R., Duijnhoven, G. van, Rosenberg, T., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Bergen, A.A.B., Post, J., Beck, A., Reinhardt, R., Ropers, H.-H., Cremers, F.P.M., Berger, W., Roepman, R., Duijnhoven, G. van, Rosenberg, T., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Bergen, A.A.B., Post, J., Beck, A., Reinhardt, R., Ropers, H.-H., Cremers, F.P.M., and Berger, W.

Abstract

Contains fulltext : 22748___.PDF (publisher's version ) (Open Access)

Published
1996

28. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

Author

Kok, Y.J.M. de, Vossenaar, E.R., Cremers, C.W.R.J., Dahl, N., Laporte, J., Hu, L.J., Lacombe, D., Fischel-Ghodsian, N., Friedman, R.A., Parnes, L.S., Thorpe, P., Bitner-Glindzicz, M., Pander, H.-J., Heilbronner, H., Graveline, J., Dunnen, J.T. den, Brunner, H.G., Ropers, H.-H., Cremers, F.P.M., Kok, Y.J.M. de, Vossenaar, E.R., Cremers, C.W.R.J., Dahl, N., Laporte, J., Hu, L.J., Lacombe, D., Fischel-Ghodsian, N., Friedman, R.A., Parnes, L.S., Thorpe, P., Bitner-Glindzicz, M., Pander, H.-J., Heilbronner, H., Graveline, J., Dunnen, J.T. den, Brunner, H.G., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 24064___.PDF (publisher's version ) (Open Access)

Published
1996

29. An animal model for Norrie disease (ND): gene targeting of the mouse ND gene

Author

Berger, W., Pol, D. van der, Bächner, D., Winkens, H., Oerlemans, F., Hameister, H., Wieringa, B., Hendriks, W.J.A.J., Ropers, H.-H., Berger, W., Pol, D. van der, Bächner, D., Winkens, H., Oerlemans, F., Hameister, H., Wieringa, B., Hendriks, W.J.A.J., and Ropers, H.-H.

Abstract

Contains fulltext : 22729___.PDF (publisher's version ) (Open Access)

Published
1996

30. Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood

Author

Kremer, H., Hamel, B.C.J., Helm, B. van den, Arts, W.F.M., Wijs, I.J. de, Sistermans, E.A., Ropers, H.-H., Mariman, E.C.M., Kremer, H., Hamel, B.C.J., Helm, B. van den, Arts, W.F.M., Wijs, I.J. de, Sistermans, E.A., Ropers, H.-H., and Mariman, E.C.M.

Abstract

Contains fulltext : 24257___.PDF (publisher's version ) (Open Access)

Published
1996

31. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)

Author

Roepman, R., Bauer, D., Rosenberg, T., Duijnhoven, G. van, Vosse, E. van de, Platzer, M., Rosenthal, A., Ropers, H.-H., Cremers, F.P.M., Berger, W., Roepman, R., Bauer, D., Rosenberg, T., Duijnhoven, G. van, Vosse, E. van de, Platzer, M., Rosenthal, A., Ropers, H.-H., Cremers, F.P.M., and Berger, W.

Abstract

Contains fulltext : 24063___.PDF (publisher's version ) (Open Access)

Published
1996

32. Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

Author

Maarel, S.M. van der, Scholten, I.H.J.M., Huber, I., Philippe, C., Suijkerbuijk, R.F., Gilgenkrantz, S., Kere, J., Cremers, F.P.M., Ropers, H.-H., Maarel, S.M. van der, Scholten, I.H.J.M., Huber, I., Philippe, C., Suijkerbuijk, R.F., Gilgenkrantz, S., Kere, J., Cremers, F.P.M., and Ropers, H.-H.

Abstract

Contains fulltext : 23529___.PDF (publisher's version ) (Open Access)

Published
1996

33. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)

Author

Roepman, R., Bauer, D., Rosenberg, T., Duijnhoven, G. van, Vosse, E. van de, Platzer, M., Rosenthal, A., Ropers, H.-H., Cremers, F.P.M., Berger, W., Roepman, R., Bauer, D., Rosenberg, T., Duijnhoven, G. van, Vosse, E. van de, Platzer, M., Rosenthal, A., Ropers, H.-H., Cremers, F.P.M., and Berger, W.

Abstract

Contains fulltext : 24063___.PDF (publisher's version ) (Open Access)

Published
1996

34. Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

Author

Maarel, S.M. van der, Scholten, I.H.J.M., Huber, I., Philippe, C., Suijkerbuijk, R.F., Gilgenkrantz, S., Kere, J., Cremers, F.P.M., Ropers, H.-H., Maarel, S.M. van der, Scholten, I.H.J.M., Huber, I., Philippe, C., Suijkerbuijk, R.F., Gilgenkrantz, S., Kere, J., Cremers, F.P.M., and Ropers, H.-H.

Abstract

Contains fulltext : 23529___.PDF (publisher's version ) (Open Access)

Published
1996

35. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

Author

Kok, Y.J.M. de, Vossenaar, E.R., Cremers, C.W.R.J., Dahl, N., Laporte, J., Hu, L.J., Lacombe, D., Fischel-Ghodsian, N., Friedman, R.A., Parnes, L.S., Thorpe, P., Bitner-Glindzicz, M., Pander, H.-J., Heilbronner, H., Graveline, J., Dunnen, J.T. den, Brunner, H.G., Ropers, H.-H., Cremers, F.P.M., Kok, Y.J.M. de, Vossenaar, E.R., Cremers, C.W.R.J., Dahl, N., Laporte, J., Hu, L.J., Lacombe, D., Fischel-Ghodsian, N., Friedman, R.A., Parnes, L.S., Thorpe, P., Bitner-Glindzicz, M., Pander, H.-J., Heilbronner, H., Graveline, J., Dunnen, J.T. den, Brunner, H.G., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 24064___.PDF (publisher's version ) (Open Access)

Published
1996

36. An animal model for Norrie disease (ND): gene targeting of the mouse ND gene

Author

Berger, W., Pol, D. van der, Bächner, D., Winkens, H., Oerlemans, F., Hameister, H., Wieringa, B., Hendriks, W.J.A.J., Ropers, H.-H., Berger, W., Pol, D. van der, Bächner, D., Winkens, H., Oerlemans, F., Hameister, H., Wieringa, B., Hendriks, W.J.A.J., and Ropers, H.-H.

Abstract

Contains fulltext : 22729___.PDF (publisher's version ) (Open Access)

Published
1996

37. Positional cloning of the gene for X-linked retinitis pigmentosa : homology with the guanine-nucleotide-exchange factor RCC1

Author

Roepman, R., Duijnhoven, G. van, Rosenberg, T., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Bergen, A.A.B., Post, J., Beck, A., Reinhardt, R., Ropers, H.-H., Cremers, F.P.M., Berger, W., Roepman, R., Duijnhoven, G. van, Rosenberg, T., Pinckers, A.J.L.G., Bleeker-Wagemakers, E.M., Bergen, A.A.B., Post, J., Beck, A., Reinhardt, R., Ropers, H.-H., Cremers, F.P.M., and Berger, W.

Abstract

Contains fulltext : 22748___.PDF (publisher's version ) (Open Access)

Published
1996

38. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

Author

Bitner-Glindzicz, M., Turnpenny, P., Höglund, P., Kääriäinen, H., Sankila, E.M., Maarel, S.M. van der, Kok, Y.J.M. de, Ropers, H.-H., Cremers, F.P.M., Pembrey, M., Malcolm, S., Bitner-Glindzicz, M., Turnpenny, P., Höglund, P., Kääriäinen, H., Sankila, E.M., Maarel, S.M. van der, Kok, Y.J.M. de, Ropers, H.-H., Cremers, F.P.M., Pembrey, M., and Malcolm, S.

Abstract

Contains fulltext : 22078___.PDF (publisher's version ) (Open Access)

Published
1995

39. A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene

Author

Kok, Y.J.M. de, Merkx, G.F.M., Maarel, S.M. van der, Huber, I., Malcolm, S., Ropers, H.-H., Cremers, F.P.M., Kok, Y.J.M. de, Merkx, G.F.M., Maarel, S.M. van der, Huber, I., Malcolm, S., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 21617___.PDF (publisher's version ) (Open Access)

Published
1995

40. Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation

Author

Maarel, S.M. van der, Scholten, I.H.J.M., Maat-Kievit, J.A., Huber, I., Kok, Y.J.M. de, Wijs, I.J. de, Pol, T.J.R. van de, Bokhoven, H. van, Dunnen, J.T. den, Ommen, G.J.B. van, Philippe, C., Monaco, A.P., Smeets, H.J.M., Ropers, H.-H., Cremers, F.P.M., Maarel, S.M. van der, Scholten, I.H.J.M., Maat-Kievit, J.A., Huber, I., Kok, Y.J.M. de, Wijs, I.J. de, Pol, T.J.R. van de, Bokhoven, H. van, Dunnen, J.T. den, Ommen, G.J.B. van, Philippe, C., Monaco, A.P., Smeets, H.J.M., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 21541___.PDF (publisher's version ) (Open Access)

Published
1995

41. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

Author

Vikkula, M., Mariman, E.C.M., Lui, V.C.H., Zhidkova, N.I., Tiller, G.E., Goldring, M.B., Beersum, S.E.C. van, Waal Malefijt, M.C. de, Hoogen, F.H.J. van den, Ropers, H.-H., Mayne, R., Cheah, K.S.E., Olsen, B.R., Warman, M.L., Brunner, H.G., Vikkula, M., Mariman, E.C.M., Lui, V.C.H., Zhidkova, N.I., Tiller, G.E., Goldring, M.B., Beersum, S.E.C. van, Waal Malefijt, M.C. de, Hoogen, F.H.J. van den, Ropers, H.-H., Mayne, R., Cheah, K.S.E., Olsen, B.R., Warman, M.L., and Brunner, H.G.

Abstract

Contains fulltext : 21466___.PDF (publisher's version ) (Open Access)

Published
1995

42. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

Author

Vikkula, M., Mariman, E.C.M., Lui, V.C.H., Zhidkova, N.I., Tiller, G.E., Goldring, M.B., Beersum, S.E.C. van, Waal Malefijt, M.C. de, Hoogen, F.H.J. van den, Ropers, H.-H., Mayne, R., Cheah, K.S.E., Olsen, B.R., Warman, M.L., Brunner, H.G., Vikkula, M., Mariman, E.C.M., Lui, V.C.H., Zhidkova, N.I., Tiller, G.E., Goldring, M.B., Beersum, S.E.C. van, Waal Malefijt, M.C. de, Hoogen, F.H.J. van den, Ropers, H.-H., Mayne, R., Cheah, K.S.E., Olsen, B.R., Warman, M.L., and Brunner, H.G.

Abstract

Contains fulltext : 21466___.PDF (publisher's version ) (Open Access)

Published
1995

43. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

Author

Bitner-Glindzicz, M., Turnpenny, P., Höglund, P., Kääriäinen, H., Sankila, E.M., Maarel, S.M. van der, Kok, Y.J.M. de, Ropers, H.-H., Cremers, F.P.M., Pembrey, M., Malcolm, S., Bitner-Glindzicz, M., Turnpenny, P., Höglund, P., Kääriäinen, H., Sankila, E.M., Maarel, S.M. van der, Kok, Y.J.M. de, Ropers, H.-H., Cremers, F.P.M., Pembrey, M., and Malcolm, S.

Abstract

Contains fulltext : 22078___.PDF (publisher's version ) (Open Access)

Published
1995

44. A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene

Author

Kok, Y.J.M. de, Merkx, G.F.M., Maarel, S.M. van der, Huber, I., Malcolm, S., Ropers, H.-H., Cremers, F.P.M., Kok, Y.J.M. de, Merkx, G.F.M., Maarel, S.M. van der, Huber, I., Malcolm, S., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 21617___.PDF (publisher's version ) (Open Access)

Published
1995

45. Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation

Author

Maarel, S.M. van der, Scholten, I.H.J.M., Maat-Kievit, J.A., Huber, I., Kok, Y.J.M. de, Wijs, I.J. de, Pol, T.J.R. van de, Bokhoven, H. van, Dunnen, J.T. den, Ommen, G.J.B. van, Philippe, C., Monaco, A.P., Smeets, H.J.M., Ropers, H.-H., Cremers, F.P.M., Maarel, S.M. van der, Scholten, I.H.J.M., Maat-Kievit, J.A., Huber, I., Kok, Y.J.M. de, Wijs, I.J. de, Pol, T.J.R. van de, Bokhoven, H. van, Dunnen, J.T. den, Ommen, G.J.B. van, Philippe, C., Monaco, A.P., Smeets, H.J.M., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 21541___.PDF (publisher's version ) (Open Access)

Published
1995

46. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

Author

Vikkula, M., Mariman, E.C.M., Lui, V.C.H., Zhidkova, N.I., Tiller, G.E., Goldring, M.B., Beersum, S.E.C. van, Waal Malefijt, M.C. de, Hoogen, F.H.J. van den, Ropers, H.-H., Mayne, R., Cheah, K.S.E., Olsen, B.R., Warman, M.L., Brunner, H.G., Vikkula, M., Mariman, E.C.M., Lui, V.C.H., Zhidkova, N.I., Tiller, G.E., Goldring, M.B., Beersum, S.E.C. van, Waal Malefijt, M.C. de, Hoogen, F.H.J. van den, Ropers, H.-H., Mayne, R., Cheah, K.S.E., Olsen, B.R., Warman, M.L., and Brunner, H.G.

Abstract

Contains fulltext : 21466___.PDF (publisher's version ) (Open Access)

Published
1995

47. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

Author

Bitner-Glindzicz, M., Turnpenny, P., Höglund, P., Kääriäinen, H., Sankila, E.M., Maarel, S.M. van der, Kok, Y.J.M. de, Ropers, H.-H., Cremers, F.P.M., Pembrey, M., Malcolm, S., Bitner-Glindzicz, M., Turnpenny, P., Höglund, P., Kääriäinen, H., Sankila, E.M., Maarel, S.M. van der, Kok, Y.J.M. de, Ropers, H.-H., Cremers, F.P.M., Pembrey, M., and Malcolm, S.

Abstract

Contains fulltext : 22078___.PDF (publisher's version ) (Open Access)

Published
1995

48. A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene

Author

Kok, Y.J.M. de, Merkx, G.F.M., Maarel, S.M. van der, Huber, I., Malcolm, S., Ropers, H.-H., Cremers, F.P.M., Kok, Y.J.M. de, Merkx, G.F.M., Maarel, S.M. van der, Huber, I., Malcolm, S., Ropers, H.-H., and Cremers, F.P.M.

Abstract

Contains fulltext : 21617___.PDF (publisher's version ) (Open Access)

Published
1995

49. Assignment of the human aminopeptidase N (peptidase E) gene to chromosome 15q13-qter.

Author

Kruse, T A, Bolund, L, Grzeschik, K H, Ropers, H H, Sjöström, H, Norén, O, Olsen, Jørgen, Kruse, T A, Bolund, L, Grzeschik, K H, Ropers, H H, Sjöström, H, Norén, O, and Olsen, Jørgen

Abstract

Udgivelsesdato: 1988-Nov-7, The gene for aminopeptidase N (EC 3.4.11.2) has been located on the human chromosome 15q13-qter using HindIII-cleaved DNA from a panel of hybrids between rodent and human cells. The Southern blots were probed by the 5'-EcoRI fragment of the recently cloned human aminopeptidase N cDNA.

Published
1988

50. Assignment of the human aminopeptidase N (peptidase E) gene to chromosome 15q13-qter.

Author

Kruse, T A, Bolund, L, Grzeschik, K H, Ropers, H H, Sjöström, H, Norén, O, Olsen, Jørgen, Kruse, T A, Bolund, L, Grzeschik, K H, Ropers, H H, Sjöström, H, Norén, O, and Olsen, Jørgen

Abstract

Udgivelsesdato: 1988-Nov-7, The gene for aminopeptidase N (EC 3.4.11.2) has been located on the human chromosome 15q13-qter using HindIII-cleaved DNA from a panel of hybrids between rodent and human cells. The Southern blots were probed by the 5'-EcoRI fragment of the recently cloned human aminopeptidase N cDNA.

Published
1988

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