-
1
-
-
0027359791
-
Physical mapping by FISH of the DiGeorge critical region (DGCR): Involvement of the region in familial cases
-
Desmaze, C., Prieur, M., Amblard, F., Aikem, M., LeDeist, F., Demczuk, S., Zucman, J., Plougastel, B., Delattre, O., Croquette, M.F., Breviere, G.M., Huon, C., Le Merrer, M., Mathieu, M., Sidi, D., Stephan, J.L., andAurias, A. (1993) Physical mapping by FISH of the DiGeorge criticalregion (DGCR): involvement of the region in familial cases. Am. J. Hum.Genet. 53, 1239-1249.
-
(1993)
Am. J. Hum. Genet
, vol.53
, pp. 1239-1249
-
-
Desmaze, C.1
Prieur, M.2
Amblard, F.3
Aikem, M.4
Ledeist, F.5
Demczuk, S.6
Zucman, J.7
Plougastel, B.8
Delattre, O.9
Croquette, M.F.10
Breviere, G.M.11
Huon, C.12
Le Merrer, M.13
Mathieu, M.14
Sidi, D.15
Stephan, J.L.16
Aurias, A.17
-
2
-
-
0027731681
-
Isolation of a putative transcriptional regulatorfactor from the region of 22ql 1 deleted in DiGeorge syndrome, Shprintzensyndrome and familial congenital heart disease
-
Halford, S., Wadey, R., Roberts, C., Daw, S.C.M., Whiting, J.A., O’Donnell, H., Dunham, H., Bentley, D., Lindsay, E., Baldini, A., Francis, F., Lehrach, H., Willimson, R., Wilson, D.I., Goodship, J., Cross, I., Bum, J., and Scambler P.J. (1993) Isolation of a putative transcriptional regulatorfactor from the region of 22ql 1 deleted in DiGeorge syndrome, Shprintzensyndrome and familial congenital heart disease. Hum. Mol. Genet. 2,2099-2107.
-
(1993)
Hum. Mol. Genet
, vol.2
, pp. 2099-2107
-
-
Halford, S.1
Wadey, R.2
Roberts, C.3
Daw, S.C.M.4
Whiting, J.A.5
O’Donnell, H.6
Dunham, H.7
Bentley, D.8
Lindsay, E.9
Baldini, A.10
Francis, F.11
Lehrach, H.12
Willimson, R.13
Wilson, D.I.14
Goodship, J.15
Cross, I.16
Bum, J.17
Scambler, P.J.18
-
3
-
-
0027328673
-
Molecular cytogenetic characterization of the DiGeorge syndromeregion using fluorescence in situ hybridization
-
Lindsay, E. A., Halford, S., Wadey, R., Scambler, P.J. and Baldini, A.(1993) Molecular cytogenetic characterization of the DiGeorge syndromeregion using fluorescence in situ hybridization. Genomics 17, 403-407.
-
(1993)
Genomics
, vol.17
, pp. 403-407
-
-
Lindsay, E.A.1
Halford, S.2
Wadey, R.3
Scambler, P.J.4
Baldini, A.5
-
4
-
-
0029033626
-
Molecular definition of the 22q 11 deletions invelo-cardio-facial syndrome
-
Morrow, B., Goldberg, R., Carlson, C., Das Gupta, R., Sirotkin, H., Collins, J., Dunham, I., O’Donnell, H., Scambler, P., Shprintzen, R. andKucherlapati, R. (1995) Molecular definition of the 22q 11 deletions invelo-cardio-facial syndrome. Am. J. Hum. Genet. 56, 1391-1403.
-
(1995)
Am. J. Hum. Genet
, vol.56
, pp. 1391-1403
-
-
Morrow, B.1
Goldberg, R.2
Carlson, C.3
Das Gupta, R.4
Sirotkin, H.5
Collins, J.6
Dunham, I.7
O’Donnell, H.8
Scambler, P.9
Shprintzen, R.10
-
5
-
-
0028943334
-
Submicroscopic deletions at 22qll.2: Variabilityof the clinical picture and delineation of a commonly deleted region
-
Lindsay, E. A., Greenberg F. Shaffer L.G., Shapira S.K., Scambler P.J.and Baldini A. (1995) Submicroscopic deletions at 22qll.2: variabilityof the clinical picture and delineation of a commonly deleted region. Am.J. Med. Genet. 56, 191-197.
-
(1995)
Am.J. Med. Genet
, vol.56
, pp. 191-197
-
-
Lindsay, E.A.1
Shaffer, F.L.G.2
Shapira, S.K.3
Scambler, P.J.4
Baldini, A.5
-
6
-
-
0028037979
-
Molecular cytogeneticanalysis of a series of 23 DiGeorge patients by fluorescence in situhybridization
-
Demczuk, S., Desmaze, C., Aikem, M., Prieur, M., LeDeist, F., Sanson, M., Rouleau, G., Thomas, G. and Aurias, A. (1994) Molecular cytogeneticanalysis of a series of 23 DiGeorge patients by fluorescence in situhybridization. Ann. Genet. 37, 60-65.
-
(1994)
Ann. Genet
, vol.37
, pp. 60-65
-
-
Demczuk, S.1
Desmaze, C.2
Aikem, M.3
Prieur, M.4
Ledeist, F.5
Sanson, M.6
Rouleau, G.7
Thomas, G.8
Aurias, A.9
-
7
-
-
0022868252
-
DiGeorgesyndrome and 22q 11 rearrangements
-
Augusseau, S., Jouk, P. S. Jalbert, P. and Prieur, M. (1986) DiGeorgesyndrome and 22q 11 rearrangements. Hum. Genet. 74, 206.
-
(1986)
Hum. Genet
, vol.74
, pp. 206
-
-
Augusseau, S.1
Jouk Jalbert, P.S.P.2
Prieur, M.3
-
8
-
-
0029634412
-
Velo-cardio-facial syndrome:Frequency and extent of 22q 11 deletions
-
Lindsay, E. A., Goldberg R., Jurecic V., Morrow B., Kucherlapati R. S., Shprintzen R. and Baldini A. (1995) Velo-cardio-facial syndrome:frequency and extent of 22q 11 deletions. Am. J. Med. Genet. 57,514-522.
-
(1995)
Am. J. Med. Genet
, vol.57
, pp. 514-522
-
-
Lindsay, E.A.1
Goldberg, R.2
Jurecic, V.3
Morrow, B.4
Kucherlapati, R.S.5
Shprintzen, R.6
Baldini, A.7
-
9
-
-
0028958564
-
Cloning ofa balanced translocation breakpoint in the DiGeorge syndrome criticalregion and isolation of a novel potential adhesion receptor in its vicinity
-
Demczuk, S., Aledo, R., Zucman, J., Delattre, O., Desmaze, C., Dauphinot, L., Jalbert, P., Rouleau G., Thomas, G. and Aurias, A. (1995) Cloning ofa balanced translocation breakpoint in the DiGeorge syndrome criticalregion and isolation of a novel potential adhesion receptor in its vicinity.Hum. Mol. Genet. 4, 451-458.
-
(1995)
Hum. Mol. Genet
, vol.4
, pp. 451-458
-
-
Demczuk, S.1
Aledo, R.2
Zucman, J.3
Delattre, O.4
Desmaze, C.5
Dauphinot, L.6
Jalbert, P.7
Rouleau, G.8
Thomas, G.9
Aurias, A.10
-
10
-
-
0029038946
-
A human homologue of the S. Cerivisiae H1R1 and H1R2 transcriptional repressors cloned from theDiGeorge syndrome critical region
-
Lamour, V., Lecluse, Y., Desmaze, C., Spector, M., Bodescot, M., Aurias, A., Osley, M.A. and Lipinski, M. (1995) A human homologue of the S. cerivisiae H1R1 and H1R2 transcriptional repressors cloned from theDiGeorge syndrome critical region. Hum. Mol. Genet. 4, 791-799.
-
(1995)
Hum. Mol. Genet
, vol.4
, pp. 791-799
-
-
Lamour, V.1
Lecluse, Y.2
Desmaze, C.3
Spector, M.4
Bodescot, M.5
Aurias, A.6
Osley, M.A.7
Lipinski, M.8
-
11
-
-
0029065469
-
Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome
-
Wadey, R., Daw, S., Taylor, C., Alif, U., Kamath, S., Halford, S., O’Donnell, H., Wilson, D., Goodship, J., Bum, J. and Scambler, P. (1995) Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Hum. Mol. Genet. 4, 1027-1033.
-
(1995)
Hum. Mol. Genet
, vol.4
, pp. 1027-1033
-
-
Wadey, R.1
Daw, S.2
Taylor, C.3
Alif, U.4
Kamath, S.5
Halford, S.6
O’Donnell, H.7
Wilson, D.8
Goodship, J.9
Bum, J.10
Scambler, P.11
-
12
-
-
0028998317
-
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
-
Budarf, M. L., Collins, J., Gong, W., Roe, B., Wang, Z., Bailey, L.C., Sellinger, B., Michaud, D., Driscoll, DA. and Emanuel, B.S. (1995) Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet. 10, 269-278.
-
(1995)
Nature Genet
, vol.10
, pp. 269-278
-
-
Budarf, M.L.1
Collins, J.2
Gong, W.3
Roe, B.4
Wang, Z.5
Bailey, L.C.6
Sellinger, B.7
Michaud, D.8
Driscoll, D.A.9
Emanuel, B.S.10
-
13
-
-
0028051866
-
Clinical and molecular study of DiGeorge sequence
-
Levy-Mozziconnacci, A., Wemert, F., Scambler, P., Rouault, F., Metras, D., Kreitman, B., Depetris, D., Mattei, M.G. and Philip, N. (1994) Clinical and molecular study of DiGeorge sequence. Eur. J. Pediatr. 153,813-820.
-
(1994)
Eur. J. Pediatr
, vol.153
, pp. 813-820
-
-
Levy-Mozziconnacci, A.1
Wemert, F.2
Scambler, P.3
Rouault, F.4
Metras, D.5
Kreitman, B.6
Depetris, D.7
Mattei, M.G.8
Philip, N.9
-
14
-
-
0028589588
-
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY- related gene SOX9
-
Wagner, T., Wirth, T., Meyer, J., Zabel, B., Held, M., Zimmer, J., Pasantes, J., Dagna-Bricarelli, F., Keutel, J., Hustert, E., Wolf, U., Tommemp, N., Schempp, P. and Scherer G. (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY- related gene SOX9. Cell 79, 1111-1120.
-
(1994)
Cell
, vol.79
, pp. 1111-1120
-
-
Wagner, T.1
Wirth, T.2
Meyer, J.3
Zabel, B.4
Held, M.5
Zimmer, J.6
Pasantes, J.7
Dagna-Bricarelli, F.8
Keutel, J.9
Hustert, E.10
Wolf, U.11
Tommemp, N.12
Schempp, P.13
Scherer, G.14
-
15
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY- related gene
-
Foster, J.W., Dominguez-Steglich, M.A., Guioli, S., Kwok, C., Weller, P.A., Stevanovic, M., Weissenbach, J., Mansour, S., Young, I.D., Goodfellow, P.N., Brook, J.D. and Shafer, A.J. (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY- related gene. Nature 372, 525-530.
-
(1994)
Nature
, vol.372
, pp. 525-530
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guioli, S.3
Kwok, C.4
Weller, P.A.5
Stevanovic, M.6
Weissenbach, J.7
Mansour, S.8
Young, I.D.9
Goodfellow, P.N.10
Brook, J.D.11
Shafer, A.J.12
|