-
1
-
-
18244366919
-
Subtelomere deletions and translocations are frequently familial
-
Adeyinka, A., Adams, S. A., Lorentz, C. P., Van Dyke, D. L. & Jalal, S. M. (2005) Subtelomere deletions and translocations are frequently familial. Am J Med Genet 135A, 28-35.
-
(2005)
Am J Med Genet
, vol.135
, pp. 28-35
-
-
Adeyinka, A.1
Adams, S.A.2
Lorentz, C.P.3
Van Dyke, D.L.4
Jalal, S.M.5
-
2
-
-
0036467232
-
Subtelomeric rearrangements detected in patients with idiopathic intellectual disability
-
Anderlid, B. M., Schoumans, J., Annerén, G., Sahlén, S., Kyllerman, M., Vujic, M., Hagberg, B. & Blennow, E. l. (2002) Subtelomeric rearrangements detected in patients with idiopathic intellectual disability. Am J Med Genet 107, 275-284.
-
(2002)
Am J Med Genet
, vol.107
, pp. 275-284
-
-
Anderlid, B.M.1
Schoumans, J.2
Annerén, G.3
Sahlén, S.4
Kyllerman, M.5
Vujic, M.6
Hagberg, B.7
Blennow, E.l.8
-
3
-
-
75449091153
-
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome
-
Backx, L., Fryns, J.P., Marcelis, C., Devriendt, K., Vermeesch, J. & Van Esch, H. (2010) Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. Am J Med Genet 152A, 319-326.
-
(2010)
Am J Med Genet
, vol.152
, pp. 319-326
-
-
Backx, L.1
Fryns, J.P.2
Marcelis, C.3
Devriendt, K.4
Vermeesch, J.5
Van Esch, H.6
-
4
-
-
18244367159
-
Study of 250 children with idiopathic intellectual disability reveals nine cryptic and diverse subtelomeric chromosome anomalies
-
Baker, E., Hinton, L., Callen, D. F., Altree, M., Dobbie, A., Eyre, H. J., Sutherland, G.R., Thompson, E., Thompson, P., Woollatt, E. & Haan, E. (2002) Study of 250 children with idiopathic intellectual disability reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 107, 285-293.
-
(2002)
Am J Med Genet
, vol.107
, pp. 285-293
-
-
Baker, E.1
Hinton, L.2
Callen, D.F.3
Altree, M.4
Dobbie, A.5
Eyre, H.J.6
Sutherland, G.R.7
Thompson, E.8
Thompson, P.9
Woollatt, E.10
Haan, E.11
-
5
-
-
0033764929
-
The promise and pitfalls of telomere region-specific probes
-
Ballif, B.C., Kashork, C. D. & Shaffer, L.G. (2000) The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 67, 1356-1359.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1356-1359
-
-
Ballif, B.C.1
Kashork, C.D.2
Shaffer, L.G.3
-
6
-
-
34547644495
-
The clinicalutility of enhanced subtelomeric coverage in array CGH
-
Ballif, B.C., Sulpizio, S. G., Lloyd, R. M., Minier, S. L., Theisen, A., Bejjani, B.A. & Shaffer, L. G. (2007) The clinicalutility of enhanced subtelomeric coverage in array CGH. Am J Med Genet 143A, 1850-1857.
-
(2007)
Am J Med Genet
, vol.143
, pp. 1850-1857
-
-
Ballif, B.C.1
Sulpizio, S.G.2
Lloyd, R.M.3
Minier, S.L.4
Theisen, A.5
Bejjani, B.A.6
Shaffer, L.G.7
-
7
-
-
18344389897
-
The human programmed cell death-2 (PDCD2) gene is a target of BCL6 repression: Implications for a role of BCL6 in the down-regulation of apoptosis
-
Baron, B.W., Anastasi, J., Thirman, M. J., Furukawa, Y., Fears, S., Kim, D. C., Simone, F., Birkenbach, M., Montag, A., Sadhu, A., Zeleznik-Le, N. & McKeithan, T.W. (2002) The human programmed cell death-2 (PDCD2) gene is a target of BCL6 repression: Implications for a role of BCL6 in the down-regulation of apoptosis. Proc Natl Acad Sci USA 99, 2860-2865.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 2860-2865
-
-
Baron, B.W.1
Anastasi, J.2
Thirman, M.J.3
Furukawa, Y.4
Fears, S.5
Kim, D.C.6
Simone, F.7
Birkenbach, M.8
Montag, A.9
Sadhu, A.10
Zeleznik-Le, N.11
McKeithan, T.W.12
-
8
-
-
0032965557
-
An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2p25.3 in a child with intellectual disability: uses and limitations of fluorescence in situ hybridization
-
Batanian, J. R. & Hussain, M. I. (1999) An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2p25.3 in a child with intellectual disability: uses and limitations of fluorescence in situ hybridization. Clin Genet 55, 265-268.
-
(1999)
Clin Genet
, vol.55
, pp. 265-268
-
-
Batanian, J.R.1
Hussain, M.I.2
-
9
-
-
30144445287
-
Isolated 6q terminal deletions: An emerging new syndrome
-
Bertini, V., de Vito, G., Costa, R., Simi, P. & Valetto, A. (2006) Isolated 6q terminal deletions: An emerging new syndrome. Am J Med Genet 140A, 74-81.
-
(2006)
Am J Med Genet
, vol.140
, pp. 74-81
-
-
Bertini, V.1
de Vito, G.2
Costa, R.3
Simi, P.4
Valetto, A.5
-
10
-
-
1942438953
-
Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic intellectual disability
-
Bocian, E., Helias-Rodzewicz, Z., Suchenek, K., Obersztyn, E., Kutkowska-Kazmierczak, A. Stankiewicz, P., Kostyk, E. & Mazurczak, T. (2004) Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic intellectual disability. Med Sci Monit 10, CR143-CR151.
-
(2004)
Med Sci Monit
, vol.10
-
-
Bocian, E.1
Helias-Rodzewicz, Z.2
Suchenek, K.3
Obersztyn, E.4
Kutkowska-Kazmierczak, A.5
Stankiewicz, P.6
Kostyk, E.7
Mazurczak, T.8
-
11
-
-
0034927366
-
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
-
Bonaglia, M. C., Giorda, R., Borgatti, R., Felisari, G., Gagliardi, C., Selicorni, A. & Zuffardi, O. (2001) Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet 69, 261-268.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 261-268
-
-
Bonaglia, M.C.1
Giorda, R.2
Borgatti, R.3
Felisari, G.4
Gagliardi, C.5
Selicorni, A.6
Zuffardi, O.7
-
12
-
-
33750431676
-
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
-
Bonaglia, M. C., Giorda, R., Mani, E., Aceti, G., Anderlid, B. M., Baroncini, A., Pramparo, T. & Zuffardi, O. (2006) Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet 43, 822-888.
-
(2006)
J Med Genet
, vol.43
, pp. 822-888
-
-
Bonaglia, M.C.1
Giorda, R.2
Mani, E.3
Aceti, G.4
Anderlid, B.M.5
Baroncini, A.6
Pramparo, T.7
Zuffardi, O.8
-
13
-
-
0034908961
-
Use of primed in situ labeling (PRINS) for the detection of telomeric deletions associated with intellectual disability
-
Bonifacio, S., Centrone, C., Da Prato, L., Scordo, M. R., Estienne, M. & Torricelli, F. (2001) Use of primed in situ labeling (PRINS) for the detection of telomeric deletions associated with intellectual disability. Cytogenet Cell Genet 93, 16-18.
-
(2001)
Cytogenet Cell Genet
, vol.93
, pp. 16-18
-
-
Bonifacio, S.1
Centrone, C.2
Da Prato, L.3
Scordo, M.R.4
Estienne, M.5
Torricelli, F.6
-
14
-
-
0035219817
-
How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in intellectual disability
-
Borgione, E., Lo Giudice, M., Galesi, O., Castiglia, L., Failla, P. & Romano, C., Ragusa, A. & Fichera, M. (2001) How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in intellectual disability. J Med Genet 38, e1.
-
(2001)
J Med Genet
, vol.38
-
-
Borgione, E.1
Lo Giudice, M.2
Galesi, O.3
Castiglia, L.4
Failla, P.5
Romano, C.6
Ragusa, A.7
Fichera, M.8
-
15
-
-
0034985199
-
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
-
Colleaux, L., Rio, M., Heuertz, S., Moindrault, S., Turleau, C., Ozilou, C., Gosset, P., Raoult, O., Lyonnet, S., Cormier-Daire, V., Amiel, J., Le Merrer, M., Picq, M., de Blois, M. C., Prieur, M., Romana, S., Cornelis, F., Vekemans, M., Munnich, A. (2001) A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation. Eur J Hum Genet 9, 319-327.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 319-327
-
-
Colleaux, L.1
Rio, M.2
Heuertz, S.3
Moindrault, S.4
Turleau, C.5
Ozilou, C.6
Gosset, P.7
Raoult, O.8
Lyonnet, S.9
Cormier-Daire, V.10
Amiel, J.11
Le Merrer, M.12
Picq, M.13
de Blois, M.C.14
Prieur, M.15
Romana, S.16
Cornelis, F.17
Vekemans, M.18
Munnich, A.19
-
16
-
-
18244381583
-
Detecting rearrangements in children using subtelomeric FISH and SKY
-
Clarkson, B., Pavenski, K., Dupuis, L., Kennedy, S., Meyn, S., Nezarati, M.M., Nie, G., Weksberg, R., Withers, S., Quercia, N., Teebi, A. S. & Teshima, I. (2002) Detecting rearrangements in children using subtelomeric FISH and SKY. Am J Med Genet 107, 267-274.
-
(2002)
Am J Med Genet
, vol.107
, pp. 267-274
-
-
Clarkson, B.1
Pavenski, K.2
Dupuis, L.3
Kennedy, S.4
Meyn, S.5
Nezarati, M.M.6
Nie, G.7
Weksberg, R.8
Withers, S.9
Quercia, N.10
Teebi, A.S.11
Teshima, I.12
-
17
-
-
0036949051
-
Cryptic chromosome rearrangements detected by subtelomere assay in patients with intellectual disability and dysmorphic features
-
Dawson, A. J., Putnam, S., Schultz, J., Riordan, D., Prasad, C., Greenberg, C. R., Chodirker, B.N., Mhanni, A. A. & Chudley, A. E. (2002) Cryptic chromosome rearrangements detected by subtelomere assay in patients with intellectual disability and dysmorphic features. Clin Genet 62, 488-494.
-
(2002)
Clin Genet
, vol.62
, pp. 488-494
-
-
Dawson, A.J.1
Putnam, S.2
Schultz, J.3
Riordan, D.4
Prasad, C.5
Greenberg, C.R.6
Chodirker, B.N.7
Mhanni, A.A.8
Chudley, A.E.9
-
18
-
-
0035083998
-
Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
-
de Vries, B. B., White, S. M., Knight, S. J., Regan, R., Homfray, T., Young, I. D., Super, M., McKeown, C., Splitt, M., Quarrell, O. W., Trainer, A. H., Niermeijer, M. F., Malcolm, S., Flint, J., Hurst, J. A. & Winter, R. M. (2001) Clinical studies on submicroscopic subtelomeric rearrangements: A checklist. J Med Genet 38, 145-150.
-
(2001)
J Med Genet
, vol.38
, pp. 145-150
-
-
de Vries, B.B.1
White, S.M.2
Knight, S.J.3
Regan, R.4
Homfray, T.5
Young, I.D.6
Super, M.7
McKeown, C.8
Splitt, M.9
Quarrell, O.W.10
Trainer, A.H.11
Niermeijer, M.F.12
Malcolm, S.13
Flint, J.14
Hurst, J.A.15
Winter, R.M.16
-
19
-
-
0042522482
-
Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer
-
Denison, S. R., Callahan, G., Becker, N. A., Phillips, L. A. & Smith, D. I. (2003) Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer. Genes Chromo Cancer 38, 40-52.
-
(2003)
Genes Chromo Cancer
, vol.38
, pp. 40-52
-
-
Denison, S.R.1
Callahan, G.2
Becker, N.A.3
Phillips, L.A.4
Smith, D.I.5
-
20
-
-
17644424608
-
Calibration of 6q subtelomeric deletions to define genotype/phenotype correlations
-
Eash, D., Waggoner, D., Chung, J., Stevenson, D. & Martin, C. (2005) Calibration of 6q subtelomeric deletions to define genotype/phenotype correlations. Clin Genet 67, 396-403.
-
(2005)
Clin Genet
, vol.67
, pp. 396-403
-
-
Eash, D.1
Waggoner, D.2
Chung, J.3
Stevenson, D.4
Martin, C.5
-
21
-
-
29144522146
-
Premature condensation induces breaks at the interface of early and late replicating chromosome bands bearing common fragile sites
-
El Achkar, E., Gerbault-Seureau, M., Muleris, M., Dutrillaux, B. & Debatisse, M. (2005) Premature condensation induces breaks at the interface of early and late replicating chromosome bands bearing common fragile sites. Proc Natl Acad Sci USA 13, 102: 18069-18074.
-
(2005)
Proc Natl Acad Sci USA
, vol.13
, pp. 18069-18074
-
-
El Achkar, E.1
Gerbault-Seureau, M.2
Muleris, M.3
Dutrillaux, B.4
Debatisse, M.5
-
22
-
-
33745229227
-
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases
-
Elia, M., Striano, P., Fichera, M., Gaggero, R., Castiglia, L. & Galesi, O., Malacarne, M., Pierluigi, M., Amato, C., Musumeci, S. A., Romano, C., Majore, S., Grammatico, P., Zara, F., Striano, S. & Faravelli, F. (2006) 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases. Epilepsia 47, 830-838.
-
(2006)
Epilepsia
, vol.47
, pp. 830-838
-
-
Elia, M.1
Striano, P.2
Fichera, M.3
Gaggero, R.4
Castiglia, L.5
Galesi, O.6
Malacarne, M.7
Pierluigi, M.8
Amato, C.9
Musumeci, S.A.10
Romano, C.11
Majore, S.12
Grammatico, P.13
Zara, F.14
Striano, S.15
Faravelli, F.16
-
23
-
-
0035746692
-
Detection of submicroscopic aberrations in patients with unexplained intellectual disability by fluorescence in situ hybridization using multiple subtelomeric probes
-
Fan, Y. S., Zhang, Y., Speevak, M., Farrel, S., Jung, J. H. & Siu, V. M. (2001) Detection of submicroscopic aberrations in patients with unexplained intellectual disability by fluorescence in situ hybridization using multiple subtelomeric probes. Genet Med 3, 416-421.
-
(2001)
Genet Med
, vol.3
, pp. 416-421
-
-
Fan, Y.S.1
Zhang, Y.2
Speevak, M.3
Farrel, S.4
Jung, J.H.5
Siu, V.M.6
-
24
-
-
0028798545
-
The detection ofsubtelomeric chromosomal rearrangements in idiopathic intellectual disability
-
Flint, J., Wilkie, A. O. M., Buckle, V. J., Winter, R. B., Holland, A. J. & McDermid, H.E. (1995) The detection ofsubtelomeric chromosomal rearrangements in idiopathic intellectual disability. Nat Genet 9, 132-140.
-
(1995)
Nat Genet
, vol.9
, pp. 132-140
-
-
Flint, J.1
Wilkie, A.O.M.2
Buckle, V.J.3
Winter, R.B.4
Holland, A.J.5
McDermid, H.E.6
-
25
-
-
3042842590
-
Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases
-
Font-Montgomery, E., Weaver, D.D., Walsh, L., Christensen, C. & Thurston, V. C. (2004) Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases. Birth Defects Res A Clin Mol teratol 70, 408-415.
-
(2004)
Birth Defects Res A Clin Mol teratol
, vol.70
, pp. 408-415
-
-
Font-Montgomery, E.1
Weaver, D.D.2
Walsh, L.3
Christensen, C.4
Thurston, V.C.5
-
26
-
-
10744231004
-
Subtelomere specific microarray based comparative genomic hybridisation: A rapid detection system for cryptic rearrangements in idiopathic intellectual disability
-
Harada, N., Hatchwell, E., Okamoto, N., Tsukahara, M., Kurosawa, K., Kawame, H., Kondoh T., Ohashi, H., Tsukino, R., Kondoh, Y., Shimokawa, O., Ida, T., Nagai, T., Fukushima, Y., Yoshiura, K., Niikawa, N. & Matsumoto, N. (2004) Subtelomere specific microarray based comparative genomic hybridisation: A rapid detection system for cryptic rearrangements in idiopathic intellectual disability. J Med Genet 41, 130-136.
-
(2004)
J Med Genet
, vol.41
, pp. 130-136
-
-
Harada, N.1
Hatchwell, E.2
Okamoto, N.3
Tsukahara, M.4
Kurosawa, K.5
Kawame, H.6
Kondoh, T.7
Ohashi, H.8
Tsukino, R.9
Kondoh, Y.10
Shimokawa, O.11
Ida, T.12
Nagai, T.13
Fukushima, Y.14
Yoshiura, K.15
Niikawa, N.16
Matsumoto, N.17
-
27
-
-
0032103404
-
Cloning and mapping of human chromosome 6q26-q27 deleted in B-cell non-Hodgkin lymphoma and multiple tumor types
-
Hauptschein, R. S., Gamberi, B., Rao, P. H., Frigeri, F., Scotto, L., Venkatraj, V. S., Gaidano, G., Rutner, T., Edwards, Y. H., Chaganti, R. S. & Dalla-Favera, R. (1998) Cloning and mapping of human chromosome 6q26-q27 deleted in B-cell non-Hodgkin lymphoma and multiple tumor types. Genomics 50, 170-186.
-
(1998)
Genomics
, vol.50
, pp. 170-186
-
-
Hauptschein, R.S.1
Gamberi, B.2
Rao, P.H.3
Frigeri, F.4
Scotto, L.5
Venkatraj, V.S.6
Gaidano, G.7
Rutner, T.8
Edwards, Y.H.9
Chaganti, R.S.10
Dalla-Favera, R.11
-
28
-
-
0026521873
-
Nonrandom chromosome breakpoints in 6q deletions
-
Hecht, F. & Hecht, B. K. (1992) Nonrandom chromosome breakpoints in 6q deletions. Clin Genet 41, 167-168.
-
(1992)
Clin Genet
, vol.41
, pp. 167-168
-
-
Hecht, F.1
Hecht, B.K.2
-
29
-
-
0036730049
-
Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic intellectual disability and minor physical anomalies.
-
Hélias-Rodzewicz, Z., Bocian, E., Stankiewicz, P., Obersztyn, E., Kostyk, E., Jakubow-Durska, K., Kutkowska-Kaźmierczak, A. & Mazurczak, T. (2002) Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic intellectual disability and minor physical anomalies. J Med Genet 39: e53.
-
(2002)
J Med Genet
, vol.39
-
-
Hélias-Rodzewicz, Z.1
Bocian, E.2
Stankiewicz, P.3
Obersztyn, E.4
Kostyk, E.5
Jakubow-Durska, K.6
Kutkowska-Kaźmierczak, A.7
Mazurczak, T.8
-
30
-
-
0036827032
-
High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)
-
Hollox, E.J., Atia, T., Cross, G., Parkin, T. & Armour, J.A. (2002) High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH). J Med Genet 39, 790-795.
-
(2002)
J Med Genet
, vol.39
, pp. 790-795
-
-
Hollox, E.J.1
Atia, T.2
Cross, G.3
Parkin, T.4
Armour, J.A.5
-
31
-
-
0030906366
-
New insights into the phenotypes of 6q deletions
-
Hopkins, R. J., Schorry, E., Bofinger, M., Milatovich, A., Stern, H. J., Jayne C. & Saal, H.M. (1997) New insights into the phenotypes of 6q deletions. Am J Med Genet 70, 377-386.
-
(1997)
Am J Med Genet
, vol.70
, pp. 377-386
-
-
Hopkins, R.J.1
Schorry, E.2
Bofinger, M.3
Milatovich, A.4
Stern, H.J.5
Jayne, C.6
Saal, H.M.7
-
32
-
-
0041319171
-
Screening for cryptic chromosomal abnormalities in patients with intellectual disability and dysmorphic facial features using telomere FISH probes
-
Hulley, B. J., Hummel, M. & Wenger, S. L. (2003) Screening for cryptic chromosomal abnormalities in patients with intellectual disability and dysmorphic facial features using telomere FISH probes. Am J Med Genet 117A, 302-303.
-
(2003)
Am J Med Genet
, vol.117
, pp. 302-303
-
-
Hulley, B.J.1
Hummel, M.2
Wenger, S.L.3
-
33
-
-
0038820242
-
Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients
-
Jalal, S.M., Harwood, A. R., Sekhon, G. S., Pham Lorentz, C., Ketterling, R. P., Babovic-Vuksanovic, D., Meyer, R. G., Ensenauer, R., Anderson, M. H. Jr. & Michels, V. V. (2003) Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients. Genet Med 5, 28-34.
-
(2003)
Genet Med
, vol.5
, pp. 28-34
-
-
Jalal, S.M.1
Harwood, A.R.2
Sekhon, G.S.3
Pham Lorentz, C.4
Ketterling, R.P.5
Babovic-Vuksanovic, D.6
Meyer, R.G.7
Ensenauer, R.8
Anderson Jr, M.H.9
Michels, V.V.10
-
34
-
-
0028557941
-
Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3
-
Jones, C., Slijepcevic, P., Marsh, S., Baker, E., Langdon, W. Y., Richards, R. I. & Tunnacliffe, A. (1994) Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Hum Mol Genet 3, 2123-2130.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2123-2130
-
-
Jones, C.1
Slijepcevic, P.2
Marsh, S.3
Baker, E.4
Langdon, W.Y.5
Richards, R.I.6
Tunnacliffe, A.7
-
35
-
-
0035173443
-
Subtelomeric rearrangements: Results from a study of selected and unselected probands with idiopathic intellectual disability and control individuals by using high-resolution G-banding and FISH
-
Joyce, C. A., Dennis, N. R., Cooper, S. & Browne, C. E. (2001) Subtelomeric rearrangements: Results from a study of selected and unselected probands with idiopathic intellectual disability and control individuals by using high-resolution G-banding and FISH. Hum Genet 109, 440-451.
-
(2001)
Hum Genet
, vol.109
, pp. 440-451
-
-
Joyce, C.A.1
Dennis, N.R.2
Cooper, S.3
Browne, C.E.4
-
36
-
-
33746563985
-
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
-
Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A., Geneviève, D., Cormier-Daire, V., van Esch, H., Fryns, J. P., Hamel, B. C., Sistermans, E. A., de Vries, B. B. & van Bokhoven, H. (2006) Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet 79, 370-377.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 370-377
-
-
Kleefstra, T.1
Brunner, H.G.2
Amiel, J.3
Oudakker, A.R.4
Nillesen, W.M.5
Magee, A.6
Geneviève, D.7
Cormier-Daire, V.8
van Esch, H.9
Fryns, J.P.10
Hamel, B.C.11
Sistermans, E.A.12
de Vries, B.B.13
van Bokhoven, H.14
-
37
-
-
20244368362
-
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
-
Kleefstra, T., Smidt, M., Banning, M. J., Oudakker, A. R., Van Esch, H., de Brouwer, A. P., Nillesen, W., Sistermans, E. A., Hamel, B. C., de Bruijn, D., Fryns, J. P., Yntema, H. G., Brunner, H. G., de Vries, B. B. & van Bokhoven, H. (2005) Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet 42, 299-306.
-
(2005)
J Med Genet
, vol.42
, pp. 299-306
-
-
Kleefstra, T.1
Smidt, M.2
Banning, M.J.3
Oudakker, A.R.4
Van Esch, H.5
de Brouwer, A.P.6
Nillesen, W.7
Sistermans, E.A.8
Hamel, B.C.9
de Bruijn, D.10
Fryns, J.P.11
Yntema, H.G.12
Brunner, H.G.13
de Vries, B.B.14
van Bokhoven, H.15
-
38
-
-
0033552424
-
Subtle chromosomal rearrangements in children with unexplained intellectual disability
-
Knight, S. J. L., Regan, R., Nicod, A., Horsley, S., Kearney, L., Homfray, T., Winter R. M., Bolton P. & Flint J. (1999) Subtle chromosomal rearrangements in children with unexplained intellectual disability. Lancet 354, 1676-1681.
-
(1999)
Lancet
, vol.354
, pp. 1676-1681
-
-
Knight, S.J.L.1
Regan, R.2
Nicod, A.3
Horsley, S.4
Kearney, L.5
Homfray, T.6
Winter, R.M.7
Bolton, P.8
Flint, J.9
-
39
-
-
25144438032
-
Application of acomprehensive subtelomere array in clinical diagnosis of intellectual disability
-
Kok, K., Dijkhuizen, T., Swart, Y.E., Zorgdrager, H., van der Vlies, P., Fehrmann, R., te Meerman, G. J., Gerssen-Schoorl, K. B., van Essen, T., Sikkema-Raddatz, B. & Buys, C. H. (2005) Application of acomprehensive subtelomere array in clinical diagnosis of intellectual disability. Eur J Med Genet 48, 250-262.
-
(2005)
Eur J Med Genet
, vol.48
, pp. 250-262
-
-
Kok, K.1
Dijkhuizen, T.2
Swart, Y.E.3
Zorgdrager, H.4
van der Vlies, P.5
Fehrmann, R.6
te Meerman, G.J.7
Gerssen-Schoorl, K.B.8
van Essen, T.9
Sikkema-Raddatz, B.10
Buys, C.H.11
-
40
-
-
19944399746
-
Screening for subtelomeric rearrangements in 210 patients with unexplained intellectual disability usingmultiplex ligation dependent probe amplification (MLPA)
-
Koolen, D. A., Nillesen, W. M., Versteeg, M. H., Merkx, G. F., Knoers, N. V., Kets, M., Vermeer, S., van Ravenswaaij, C. M., de Kovel, C. G., Brunner, H. G., Smeets, D., de Vries, B. B. & Sistermans, E. A. (2004) Screening for subtelomeric rearrangements in 210 patients with unexplained intellectual disability usingmultiplex ligation dependent probe amplification (MLPA). J Med Genet 41, 892-899.
-
(2004)
J Med Genet
, vol.41
, pp. 892-899
-
-
Koolen, D.A.1
Nillesen, W.M.2
Versteeg, M.H.3
Merkx, G.F.4
Knoers, N.V.5
Kets, M.6
Vermeer, S.7
van Ravenswaaij, C.M.8
de Kovel, C.G.9
Brunner, H.G.10
Smeets, D.11
de Vries, B.B.12
Sistermans, E.A.13
-
41
-
-
11144354654
-
Genomic imbalances in intellectual disability
-
Kriek, M., White, S. J., Bouma, M. C, Dauwerse, H. G., Hansson, K. B., Nijhuis, J. V., Bakker, B., van Ommen, G. J., den Dunnen, J. T. & Breuning, M. H. (2004) Genomic imbalances in intellectual disability. J Med Genet 41, 249-255.
-
(2004)
J Med Genet
, vol.41
, pp. 249-255
-
-
Kriek, M.1
White, S.J.2
Bouma, M.C.3
Dauwerse, H.G.4
Hansson, K.B.5
Nijhuis, J.V.6
Bakker, B.7
van Ommen, G.J.8
den Dunnen, J.T.9
Breuning, M.H.10
-
42
-
-
33644944837
-
High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe intellectual disability
-
Lam, A. C., Lam, S. T., Lai, K. K., Tong, T. M. & Chau, T. C. (2006) High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe intellectual disability. Clin Biochem 39, 196-202.
-
(2006)
Clin Biochem
, vol.39
, pp. 196-202
-
-
Lam, A.C.1
Lam, S.T.2
Lai, K.K.3
Tong, T.M.4
Chau, T.C.5
-
43
-
-
4243387530
-
Low proportion of subtelomeric rearrangements in a population of patients with intellectual disability and dysmorphic features
-
Lamb, A. N., Lytle, C. H., Aylsworth, A. S., Powell, C. M., Rao, K. W., Hendrickson, M., Carey, J.C., Opitz, J. M., Viskochi, D. H., Leonard, C. O., Brothman, A. R., Stephan, M., Bartley, J. A., Hackbarth, M., McCarthy, D. & Proffitt, J. (1999) Low proportion of subtelomeric rearrangements in a population of patients with intellectual disability and dysmorphic features. Am J Hum Genet 65(Suppl), A924
-
(1999)
Am J Hum Genet
, vol.65
, Issue.SUPPL
-
-
Lamb, A.N.1
Lytle, C.H.2
Aylsworth, A.S.3
Powell, C.M.4
Rao, K.W.5
Hendrickson, M.6
Carey, J.C.7
Opitz, J.M.8
Viskochi, D.H.9
Leonard, C.O.10
Brothman, A.R.11
Stephan, M.12
Bartley, J.A.13
Hackbarth, M.14
McCarthy, D.15
Proffitt, J.16
-
44
-
-
0031924605
-
Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: implications for the mechanism of fragile site induction
-
Le Beau, M. M., Rassool, F. V., Neilly, M. E., Espinosa, R., 3rd, Glover, T. W., Smith, D. I. & McKeithan, T. W. (1998) Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: implications for the mechanism of fragile site induction. Hum Mol Genet 7, 755-61.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 755-761
-
-
Le Beau, M.M.1
Rassool, F.V.2
Neilly, M.E.3
Espinosa 3rd, R.4
Glover, T.W.5
Smith, D.I.6
McKeithan, T.W.7
-
45
-
-
4844223239
-
Two subtelomeric chromosomal deletions in forty-six children withidiopathic intellectual disability
-
Li, R. & Zhao, Z. Y. (2004) Two subtelomeric chromosomal deletions in forty-six children withidiopathic intellectual disability. Chin Med J 117, 1414-1417.
-
(2004)
Chin Med J
, vol.117
, pp. 1414-1417
-
-
Li, R.1
Zhao, Z.Y.2
-
46
-
-
0034639295
-
Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child
-
Lorda-Sanchez, I., Lopez-Pajares, I., Roche, M. C., Sanz, R., Rodriguez de Alba, M. Gonzalez-Gonzalez, M. C., Ibañez, A., Ramos, C. & Ayuso, C. (2000) Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child. Am J Med Genet 95, 336-338.
-
(2000)
Am J Med Genet
, vol.95
, pp. 336-338
-
-
Lorda-Sanchez, I.1
Lopez-Pajares, I.2
Roche, M.C.3
Sanz, R.4
Rodriguez de Alba, M.5
Gonzalez-Gonzalez, M.C.6
Ibañez, A.7
Ramos, C.8
Ayuso, C.9
-
47
-
-
33744513352
-
Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements
-
Monfort, S., Orellana, C., Oltra, S., Rosello, M., Guitart, M. & Martinez, F. (2006) Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements. J Lab Clin Med 147, 295-300.
-
(2006)
J Lab Clin Med
, vol.147
, pp. 295-300
-
-
Monfort, S.1
Orellana, C.2
Oltra, S.3
Rosello, M.4
Guitart, M.5
Martinez, F.6
-
48
-
-
27544454321
-
Subtelomeric chromosome aberrations: Still a lot to learn
-
Moog, U., Arens, Y. H., van Lent-Albrechts, J. C., Huijts, P. E., Smeets, E. E., Schrander-Stumpel, C. T. & Engelen, J. J. (2005) Subtelomeric chromosome aberrations: Still a lot to learn. Clin Genet 68, 397-407.
-
(2005)
Clin Genet
, vol.68
, pp. 397-407
-
-
Moog, U.1
Arens, Y.H.2
van Lent-Albrechts, J.C.3
Huijts, P.E.4
Smeets, E.E.5
Schrander-Stumpel, C.T.6
Engelen, J.J.7
-
49
-
-
27644574956
-
Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay
-
Northrop, E. L., Ren, H., Bruno, D. L., McGhie, J. D., Coffa, J., Schouten, J., Choo, K. H. & Slater, H. R. (2005) Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay. Hum Mutat 26, 477-486.
-
(2005)
Hum Mutat
, vol.26
, pp. 477-486
-
-
Northrop, E.L.1
Ren, H.2
Bruno, D.L.3
McGhie, J.D.4
Coffa, J.5
Schouten, J.6
Choo, K.H.7
Slater, H.R.8
-
50
-
-
3242736790
-
High frequency of subtelomeric rearrangements in a cohort of 92 patientswith severe intellectual disability and dysmorphism
-
Novelli, A., Ceccarini, C., Bernardini, L., Zucarello, D., Caputo, V., Digilio, M. C., Mingarelli, R. & Dallapiccola, B. (2004) High frequency of subtelomeric rearrangements in a cohort of 92 patientswith severe intellectual disability and dysmorphism. Clin Genet 66, 30-38.
-
(2004)
Clin Genet
, vol.66
, pp. 30-38
-
-
Novelli, A.1
Ceccarini, C.2
Bernardini, L.3
Zucarello, D.4
Caputo, V.5
Digilio, M.C.6
Mingarelli, R.7
Dallapiccola, B.8
-
51
-
-
33644812178
-
MLPA vs multiprobe FISH: Comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic intellectual disability
-
Palomares, M., Delicado, A., Lapunzina, P., Arjona, D., Aminoso, C., Arcas, J., Martinez Bermejo, A., Fernández, L. & López Pajares, I. (2006) MLPA vs multiprobe FISH: Comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic intellectual disability. Clin Genet 69, 228-233.
-
(2006)
Clin Genet
, vol.69
, pp. 228-233
-
-
Palomares, M.1
Delicado, A.2
Lapunzina, P.3
Arjona, D.4
Aminoso, C.5
Arcas, J.6
Martinez Bermejo, A.7
Fernández, L.8
López Pajares, I.9
-
52
-
-
26444604507
-
A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and intellectual disability.
-
Pickard, B. S., Hollox, E. J., Malloy, M. P., Porteous, D. J., Blackwood, D. H, Armour, J. A. & Muir, W. J. (2004) A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and intellectual disability. BMC Med Genet 5, 21.
-
(2004)
BMC Med Genet
, vol.5
, pp. 21
-
-
Pickard, B.S.1
Hollox, E.J.2
Malloy, M.P.3
Porteous, D.J.4
Blackwood, D.H.5
Armour, J.A.6
Muir, W.J.7
-
53
-
-
0036664772
-
Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay
-
Popp, S., Schulze, B., Granzow, M., Keller, M., Holtgreve-Grez, H., Schoell, B., Brough, M., Hager, H. D., Tariverdian, G., Brown, J., Kearney, L. & Jauch, A. (2002) Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum Genet 111, 31-39.
-
(2002)
Hum Genet
, vol.111
, pp. 31-39
-
-
Popp, S.1
Schulze, B.2
Granzow, M.3
Keller, M.4
Holtgreve-Grez, H.5
Schoell, B.6
Brough, M.7
Hager, H.D.8
Tariverdian, G.9
Brown, J.10
Kearney, L.11
Jauch, A.12
-
54
-
-
33745226965
-
Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
-
Ravnan, J.B., Tepperberg, J. H., Papenhausen, P., Lamb, A. N., Hedrick, J., Eash, D., Ledbetter, D. H. & Martin, C. L. (2006) Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43, 478-489.
-
(2006)
J Med Genet
, vol.43
, pp. 478-489
-
-
Ravnan, J.B.1
Tepperberg, J.H.2
Papenhausen, P.3
Lamb, A.N.4
Hedrick, J.5
Eash, D.6
Ledbetter, D.H.7
Martin, C.L.8
-
55
-
-
0034809237
-
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes
-
Riegel, M., Baumer, A., Jamar, M., Delbecque, K., Herens, C., Verloes, A. & Schinzel, A. (2001) Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet 109, 286-294.
-
(2001)
Hum Genet
, vol.109
, pp. 286-294
-
-
Riegel, M.1
Baumer, A.2
Jamar, M.3
Delbecque, K.4
Herens, C.5
Verloes, A.6
Schinzel, A.7
-
56
-
-
18344367819
-
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic intellectual disability
-
Rio, M., Molinari, F., Heuertz, S., Ozilou, C., Gosset, P. & Raoul, O., Cormier-Daire, V., Amiel, J., Lyonnet, S., Le Merrer, M., Turleau, C., de Blois, M. C., Prieur, M., Romana, S., Vekemans, M., Munnich, A. & Colleaux, L. (2002) Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic intellectual disability. J Med Genet 39, 266-270.
-
(2002)
J Med Genet
, vol.39
, pp. 266-270
-
-
Rio, M.1
Molinari, F.2
Heuertz, S.3
Ozilou, C.4
Gosset, P.5
Raoul, O.6
Cormier-Daire, V.7
Amiel, J.8
Lyonnet, S.9
Le Merrer, M.10
Turleau, C.11
de Blois, M.C.12
Prieur, M.13
Romana, S.14
Vekemans, M.15
Munnich, A.16
Colleaux, L.17
-
57
-
-
1642514697
-
Cryptic chromosomal rearrangement screening in 30 patients with intellectual disability and dysmorphic features
-
Rodriguez-Revenga, L., Badenas, C., Sanchez, A., Mallolas, J., Carrio, A. & Pedrinaci, S. (2004) Cryptic chromosomal rearrangement screening in 30 patients with intellectual disability and dysmorphic features. Clin Genet 65, 17-23.
-
(2004)
Clin Genet
, vol.65
, pp. 17-23
-
-
Rodriguez-Revenga, L.1
Badenas, C.2
Sanchez, A.3
Mallolas, J.4
Carrio, A.5
Pedrinaci, S.6
-
58
-
-
0346096787
-
Subtelomeric deletions detected in patients with idiopathic mentalretardation using multiplex ligation-dependent probe amplification (MLPA)
-
Rooms, L., Reyniers, E., van Luijk, R., Scheers, S., Wauters, J., Ceulemans, B., Van Den Ende, J., Van Bever, Y. & Kooy, R. F. (2004a) Subtelomeric deletions detected in patients with idiopathic mentalretardation using multiplex ligation-dependent probe amplification (MLPA). Hum Mutat 23, 17-21.
-
(2004)
Hum Mutat
, vol.23
, pp. 17-21
-
-
Rooms, L.1
Reyniers, E.2
van Luijk, R.3
Scheers, S.4
Wauters, J.5
Ceulemans, B.6
Van Den Ende, J.7
Van Bever, Y.8
Kooy, R.F.9
-
59
-
-
1842475352
-
Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained intellectual disability
-
Rooms, L., Reyniers, E., van Luijk, R., Scheers, S., Wauters, J. & Kooy, R. F. (2004b) Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained intellectual disability. Ann Genet 47, 53-59.
-
(2004)
Ann Genet
, vol.47
, pp. 53-59
-
-
Rooms, L.1
Reyniers, E.2
van Luijk, R.3
Scheers, S.4
Wauters, J.5
Kooy, R.F.6
-
60
-
-
33749077523
-
TBP as a candidate gene for intellectual disability in patients with subtelomeric 6q deletions
-
Rooms, L., Reyniers, E., Scheers, S., van Luijk, R., Wauters, J., Van Aerschot, L., Callaerts-Vegh, Z., D'Hooge, R., Mengus, G., Davidson, I., Courtens, W. & Kooy R. F. (2006a) TBP as a candidate gene for intellectual disability in patients with subtelomeric 6q deletions. Eur J Hum Genet 14, 1090-1096.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 1090-1096
-
-
Rooms, L.1
Reyniers, E.2
Scheers, S.3
van Luijk, R.4
Wauters, J.5
Van Aerschot, L.6
Callaerts-Vegh, Z.7
D'Hooge, R.8
Mengus, G.9
Davidson, I.10
Courtens, W.11
Kooy, R.F.12
-
61
-
-
33644853109
-
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics
-
Rooms, L., Reyniers, E., Wuyts, W., Storm, K., van Luijk, R., Scheers, S., Wauters, J., van den Ende, J., Biervliet, M., Eyskens, F., van Goethem, G., Laridon, A., Ceulemans, B., Courtens, W. & Kooy, R. F. (2006b) Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. Clin Genet 69, 58-64.
-
(2006)
Clin Genet
, vol.69
, pp. 58-64
-
-
Rooms, L.1
Reyniers, E.2
Wuyts, W.3
Storm, K.4
van Luijk, R.5
Scheers, S.6
Wauters, J.7
van den Ende, J.8
Biervliet, M.9
Eyskens, F.10
van Goethem, G.11
Laridon, A.12
Ceulemans, B.13
Courtens, W.14
Kooy, R.F.15
-
62
-
-
0034805155
-
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
-
Rosenberg, M. J., Killoran, C., Dziadzio, L., Chang, S., Stone, D. L., Meck, J., Aughton, D., Bird, L. M., Bodurtha, J., Cassidy, S. B., Graham, J. M., Jr., Grix, A., Guttmacher, A. E., Hudgins, L., Kozma, C., Michaelis, R. C., Pauli, R., Peters, K. F., Rosenbaum, K. N., Tifft, C. J., Wargowski, D., Williams, M. S. & Biesecker, L. G. (2001) Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet 109, 311-318.
-
(2001)
Hum Genet
, vol.109
, pp. 311-318
-
-
Rosenberg, M.J.1
Killoran, C.2
Dziadzio, L.3
Chang, S.4
Stone, D.L.5
Meck, J.6
Aughton, D.7
Bird, L.M.8
Bodurtha, J.9
Cassidy, S.B.10
Graham Jr, J.M.11
Grix, A.12
Guttmacher, A.E.13
Hudgins, L.14
Kozma, C.15
Michaelis, R.C.16
Pauli, R.17
Peters, K.F.18
Rosenbaum, K.N.19
Tifft, C.J.20
Wargowski, D.21
Williams, M.S.22
Biesecker, L.G.23
more..
-
63
-
-
0034979654
-
Cryptic telomeric rearrangements in subjects with intellectual disability associated with dysmorphism and congenital malformations
-
Rossi, E., Piccini, F., Zollino, M., Neri, G., Caselli, D., Tenconi, R., Castellan, C., Carrozzo, R., Danesino, C., Zuffardi, O., Ragusa, A., Castiglia, L., Galesi, O., Greco, D., Romano, C., Pierluigi, M., Perfumo, C., Di Rocco, M., Faravelli, F., Dagna Bricarelli, F., Bonaglia, M., Bedeschi, M. & Borgatti, R. (2001) Cryptic telomeric rearrangements in subjects with intellectual disability associated with dysmorphism and congenital malformations. J Med Genet 38, 417-420.
-
(2001)
J Med Genet
, vol.38
, pp. 417-420
-
-
Rossi, E.1
Piccini, F.2
Zollino, M.3
Neri, G.4
Caselli, D.5
Tenconi, R.6
Castellan, C.7
Carrozzo, R.8
Danesino, C.9
Zuffardi, O.10
Ragusa, A.11
Castiglia, L.12
Galesi, O.13
Greco, D.14
Romano, C.15
Pierluigi, M.16
Perfumo, C.17
Di Rocco, M.18
Faravelli, F.19
Dagna Bricarelli, F.20
Bonaglia, M.21
Bedeschi, M.22
Borgatti, R.23
more..
-
64
-
-
51449110312
-
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases
-
Shao, L., Shaw, C. A., Lu, X. Y., Sahoo, T., Bacino, C. A., Lalani, S. R., Stankiewicz, P., Yatsenko, S. A., Li, Y., Neill, S., Pursley, A. N., Chinault, A. C., Patel, A., Beaudet, A. L., Lupski, J. R. & Cheung, S. W. (2008) Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5, 380 cases. Am J Med Genet 146A, 2242-51.
-
(2008)
Am J Med Genet
, vol.146
, pp. 2242-2251
-
-
Shao, L.1
Shaw, C.A.2
Lu, X.Y.3
Sahoo, T.4
Bacino, C.A.5
Lalani, S.R.6
Stankiewicz, P.7
Yatsenko, S.A.8
Li, Y.9
Neill, S.10
Pursley, A.N.11
Chinault, A.C.12
Patel, A.13
Beaudet, A.L.14
Lupski, J.R.15
Cheung, S.W.16
-
65
-
-
0034878074
-
Screening for subtelomeric chromosome abnormalities in children with idiopathic intellectual disability using multiprobe telomeric FISH and the new MAPH telomeric assay
-
Sismani, C., Armour, J. A. L., Flint, J., Girgalli, C., Regan, R. & Patsalis, P. C. (2001) Screening for subtelomeric chromosome abnormalities in children with idiopathic intellectual disability using multiprobe telomeric FISH and the new MAPH telomeric assay. Eur J Hum Genet 9, 527-532.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 527-532
-
-
Sismani, C.1
Armour, J.A.L.2
Flint, J.3
Girgalli, C.4
Regan, R.5
Patsalis, P.C.6
-
66
-
-
0032901062
-
Screening for submicroscopic chromosome rearrangements in children with idiopathic intellectual disability using microsatellite markers for the chromosome telomeres
-
Slavotinek, A., Rosenberg, M., Knight, S., Gaunt, L., Fergusson, W., Killoran, C., Clayton-Smith, J., Kingston, H., Campbell, R. H., Flint, J., Donnai, D. & Biesecker, L.(1999) Screening for submicroscopic chromosome rearrangements in children with idiopathic intellectual disability using microsatellite markers for the chromosome telomeres. J Med Genet 36, 405-411.
-
(1999)
J Med Genet
, vol.36
, pp. 405-411
-
-
Slavotinek, A.1
Rosenberg, M.2
Knight, S.3
Gaunt, L.4
Fergusson, W.5
Killoran, C.6
Clayton-Smith, J.7
Kingston, H.8
Campbell, R.H.9
Flint, J.10
Donnai, D.11
Biesecker, L.12
-
67
-
-
26444609712
-
Subtelomeric study of 132 patients with intellectual disability reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
-
Sogaard, M., Tumer, Z., Hjalgrim, H., Hahnemann, J., Friis, B., Ledaal, P., Pedersen, V. F., Baekgaard, P., Tommerup, N., Cingöz, S., Duno, M. & Brondum-Nielsen, K. (2005) Subtelomeric study of 132 patients with intellectual disability reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter. BMC Med Genet 6, 21.
-
(2005)
BMC Med Genet
, vol.6
, pp. 21
-
-
Sogaard, M.1
Tumer, Z.2
Hjalgrim, H.3
Hahnemann, J.4
Friis, B.5
Ledaal, P.6
Pedersen, V.F.7
Baekgaard, P.8
Tommerup, N.9
Cingöz, S.10
Duno, M.11
Brondum-Nielsen, K.12
-
68
-
-
0038461936
-
Identification of candidate tumor-suppressor genes in 6q27 by combined deletion mapping and electronic expression profiling in lymphoid neoplasms
-
Steinemann, D., Gesk, S., Zhang, Y., Harder, L., Pilarsky, C., Hinzmann, B., Martin-Subero, J. I., Calasanz, M. J., Mungall, A., Rosenthal, A., Siebert, R. & Schlegelberger, B. (2003) Identification of candidate tumor-suppressor genes in 6q27 by combined deletion mapping and electronic expression profiling in lymphoid neoplasms. Genes Chromo Cancer 37, 421-426.
-
(2003)
Genes Chromo Cancer
, vol.37
, pp. 421-426
-
-
Steinemann, D.1
Gesk, S.2
Zhang, Y.3
Harder, L.4
Pilarsky, C.5
Hinzmann, B.6
Martin-Subero, J.I.7
Calasanz, M.J.8
Mungall, A.9
Rosenthal, A.10
Siebert, R.11
Schlegelberger, B.12
-
69
-
-
7444235828
-
6q subtelomeric deletion: Is there a recognizable syndrome?
-
Stevenson, D. A., Brothman, A. R., Carey, J. C., Chen, Z., Dent, K. M. & Bale, J. F., Jr. & Longo, N. (2004) 6q subtelomeric deletion: Is there a recognizable syndrome? Clin Dysmorphol 13, 103-106.
-
(2004)
Clin Dysmorphol
, vol.13
, pp. 103-106
-
-
Stevenson, D.A.1
Brothman, A.R.2
Carey, J.C.3
Chen, Z.4
Dent, K.M.5
Bale Jr, J.F.6
Longo, N.7
-
70
-
-
33748621492
-
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
-
Striano, P., Malacarne, M., Cavani, S., Pierluigi, M., Rinaldi, R., Cavaliere, M. L., Rinaldi, M. M., De Bernardo, C., Coppola, A., Pintaudi, M., Gaggero, R., Grammatico, P., Striano, S., Dallapiccola, B., Zara, F. & Faravelli, F. (2006) Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases. Am J Med Genet 140A, 1944-1949.
-
(2006)
Am J Med Genet
, vol.140
, pp. 1944-1949
-
-
Striano, P.1
Malacarne, M.2
Cavani, S.3
Pierluigi, M.4
Rinaldi, R.5
Cavaliere, M.L.6
Rinaldi, M.M.7
De Bernardo, C.8
Coppola, A.9
Pintaudi, M.10
Gaggero, R.11
Grammatico, P.12
Striano, S.13
Dallapiccola, B.14
Zara, F.15
Faravelli, F.16
-
71
-
-
0036344398
-
Prospective screening for subtelomeric rearrangements in children with intellectual disability of unknown aetiology: The Amsterdam experience
-
van Karnebeek, C. D., Koevoets, C., Sluijter, S., Bijlsma, E. K., Smeets, D. F., Redeker, E. J., Hennekam, R. C. & Hoovers, J. M. (2002) Prospective screening for subtelomeric rearrangements in children with intellectual disability of unknown aetiology: The Amsterdam experience. J Med Genet 39, 546-553.
-
(2002)
J Med Genet
, vol.39
, pp. 546-553
-
-
van Karnebeek, C.D.1
Koevoets, C.2
Sluijter, S.3
Bijlsma, E.K.4
Smeets, D.F.5
Redeker, E.J.6
Hennekam, R.C.7
Hoovers, J.M.8
-
72
-
-
0002833777
-
Cryptic subtelomeric rearrangements detected by FISH in mentally retarded and dysmorphic patients
-
Viot, G., Gosset, P., Fert, S., Prieur, M., Turleau, C., Raoul, O., de Blois, M. C., Lyonnet, C., Munnich, A. & Vekemans, M. (1998) Cryptic subtelomeric rearrangements detected by FISH in mentally retarded and dysmorphic patients. Am J Hum Genet 63(Suppl), A10.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.SUPPL
-
-
Viot, G.1
Gosset, P.2
Fert, S.3
Prieur, M.4
Turleau, C.5
Raoul, O.6
de Blois, M.C.7
Lyonnet, C.8
Munnich, A.9
Vekemans, M.10
-
73
-
-
0000653421
-
FISH analysis ofmicroaberrations at telomeric and subtelomeric regions in chromosomes of children with intellectual disability
-
Vorsanova, S. G., Koloti, D., Sharonin, V. O., Soloviev, V. & Yurov, Y. B. (1998) FISH analysis ofmicroaberrations at telomeric and subtelomeric regions in chromosomes of children with intellectual disability. Am J Hum Genet 63(Suppl), A154.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.SUPPL
-
-
Vorsanova, S.G.1
Koloti, D.2
Sharonin, V.O.3
Soloviev, V.4
Yurov, Y.B.5
-
74
-
-
3342938159
-
Subtelomere FISH in 50 children with intellectual disability and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33
-
Walter, S., Sandig, K., Hinkel, G. K., Mitulla, B., Ounap, K., Sims, G., Sitska, M., Utermann, B., Viertel, P., Kalscheuer, V. & Bartsch, O. (2004) Subtelomere FISH in 50 children with intellectual disability and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. Am J Med Genet 128A, 364-373.
-
(2004)
Am J Med Genet
, vol.128
, pp. 364-373
-
-
Walter, S.1
Sandig, K.2
Hinkel, G.K.3
Mitulla, B.4
Ounap, K.5
Sims, G.6
Sitska, M.7
Utermann, B.8
Viertel, P.9
Kalscheuer, V.10
Bartsch, O.11
-
75
-
-
0027428757
-
Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion
-
Wauters, J. G., Bossuyt, P. J., Roelen, L., van Roy, B. & Dumon, J. (1993) Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion. Clin Genet 44, 262-269.
-
(1993)
Clin Genet
, vol.44
, pp. 262-269
-
-
Wauters, J.G.1
Bossuyt, P.J.2
Roelen, L.3
van Roy, B.4
Dumon, J.5
-
76
-
-
27544502738
-
Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review
-
Yu, S., Baker, E., Hinton, L., Eyre, H. J., Waters, W. & Higgins, S., Sutherland, G. R. & Haan, E. (2005) Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review. Clin Genet 68, 436-441.
-
(2005)
Clin Genet
, vol.68
, pp. 436-441
-
-
Yu, S.1
Baker, E.2
Hinton, L.3
Eyre, H.J.4
Waters, W.5
Higgins, S.6
Sutherland, G.R.7
Haan, E.8
|