-
1
-
-
0027379758
-
Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome
-
Aubry M, Demczuk S, Desmaze C, Aikem M, Aurias A, Julien J-P, Rouleau GA (1993): Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. Hum Mol Genet 2:1583-1587.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1583-1587
-
-
Aubry, M.1
Demczuk, S.2
Desmaze, C.3
Aikem, M.4
Aurias, A.5
Julien, J.-P.6
Rouleau, G.A.7
-
3
-
-
0028998317
-
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
-
Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, Michaud D, Driscoll DA, Emanuel BS (1995): Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet 10:269-278
-
(1995)
Nat 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
-
4
-
-
0027373693
-
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
-
Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J (1993): Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 30:822-824.
-
(1993)
J Med Genet
, vol.30
, pp. 822-824
-
-
Burn, J.1
Takao, A.2
Wilson, D.3
Cross, I.4
Momma, K.5
Wadey, R.6
Scambler, P.7
Goodship, J.8
-
5
-
-
0028958564
-
Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinty
-
Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rouleau GA, Thomas G, Aurias A (1995): Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinty. Hum Mol Genet 4:551-558.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 551-558
-
-
Demczuk, S.1
Aledo, R.2
Zucman, J.3
Delattre, O.4
Desmaze, C.5
Dauphinot, L.6
Jalbert, P.7
Rouleau, G.A.8
Thomas, G.9
Aurias, A.10
-
6
-
-
0023775284
-
Molecular cytogenetics: Toward dissection of the contiguous gene syndromes
-
Emanuel BS (1988): Molecular cytogenetics: toward dissection of the contiguous gene syndromes. Am J Hum Genet 43:575-578.
-
(1988)
Am J Hum Genet
, vol.43
, pp. 575-578
-
-
Emanuel, B.S.1
-
7
-
-
0025348555
-
Molecular studies of DiGeorge syndrome
-
Fibson WJ, Budarf M, McDermid H, Greenberg F, Emanuel BS (1990): Molecular studies of DiGeorge syndrome. Am J Hum Genet 46:888-895.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 888-895
-
-
Fibson, W.J.1
Budarf, M.2
McDermid, H.3
Greenberg, F.4
Emanuel, B.S.5
-
8
-
-
0017053660
-
Structural abberations of the long arm of chromosome no.22
-
Fu W, Borgaonkar DS, Ladewig PP, Weaver J, Pomerance HH (1976): Structural abberations of the long arm of chromosome no.22. Clin Genet 10:329-336.
-
(1976)
Clin Genet
, vol.10
, pp. 329-336
-
-
Fu, W.1
Borgaonkar, D.S.2
Ladewig, P.P.3
Weaver, J.4
Pomerance, H.H.5
-
9
-
-
0027442395
-
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects
-
Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS (1993): Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 30:807-812.
-
(1993)
J Med Genet
, vol.30
, pp. 807-812
-
-
Goldmuntz, E.1
Driscoll, D.2
Budarf, M.L.3
Zackai, E.H.4
McDonald-McGinn, D.M.5
Biegel, J.A.6
Emanuel, B.S.7
-
10
-
-
0029985819
-
Clonong, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region
-
Goldmuntz E, Wang Z, Roe BA, Budarf ML (1996): Clonong, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. Genomics 33:271-276.
-
(1996)
Genomics
, vol.33
, pp. 271-276
-
-
Goldmuntz, E.1
Wang, Z.2
Roe, B.A.3
Budarf, M.L.4
-
11
-
-
0023815540
-
Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
-
Greenberg F, Elder FFB, Haffner P, Northrup H, Ledbetter DH (1988): Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Hum Genet 43:605-611.
-
(1988)
Am J Hum Genet
, vol.43
, pp. 605-611
-
-
Greenberg, F.1
Elder, F.F.B.2
Haffner, P.3
Northrup, H.4
Ledbetter, D.H.5
-
12
-
-
0027731681
-
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease
-
Halford S, Wadey R, Roberts C, Daw SCM, Whiting JA, O'Donnell H, Dunham I, Bentley D, Lindsay E, Baldini A, Francis F, Lehrach H, Williamson R, Wilson DI, Goodship J, Cross I, Burn J, Scambler PJ (1993a): Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome 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, I.7
Bentley, D.8
Lindsay, E.9
Baldini, A.10
Francis, F.11
Lehrach, H.12
Williamson, R.13
Wilson, D.I.14
Goodship, J.15
Cross, I.16
Burn, J.17
Scambler, P.J.18
-
13
-
-
0027486337
-
Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in Digeorge syndrome
-
Halford S, Wison DI, Daw SCM, Roberts C, Wadey R, Kamath S, Wickremasinghe A, Burn J, Goodship J, Mattei M, Moormon AFM, Scambler PJ (1993b): Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in Digeorge syndrome. Hum Mol Genet 2:1577-1582.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1577-1582
-
-
Halford, S.1
Wison, D.I.2
Daw, S.C.M.3
Roberts, C.4
Wadey, R.5
Kamath, S.6
Wickremasinghe, A.7
Burn, J.8
Goodship, J.9
Mattei, M.10
Moormon, A.F.M.11
Scambler, P.J.12
-
14
-
-
0027363767
-
High resolution ordering of DNA markers by multi-color fluorescent in situ hybridization of prophase chromosomes
-
Inazawa J, Ariyama T, Tokino T, Tanigami A, Nakamura Y, Abe T (1994): High resolution ordering of DNA markers by multi-color fluorescent in situ hybridization of prophase chromosomes. Cytogenet Cell Genet 65: 130-135.
-
(1994)
Cytogenet Cell Genet
, vol.65
, pp. 130-135
-
-
Inazawa, J.1
Ariyama, T.2
Tokino, T.3
Tanigami, A.4
Nakamura, Y.5
Abe, T.6
-
15
-
-
0027958466
-
Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome
-
Kurahashi H, Akagi K, Karakawa K, Nakamura T, Dumanski JP, Sano T, Okada S, Takai S, Nishisho I (1994): Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome. Hum Genet 93:248-254.
-
(1994)
Hum Genet
, vol.93
, pp. 248-254
-
-
Kurahashi, H.1
Akagi, K.2
Karakawa, K.3
Nakamura, T.4
Dumanski, J.P.5
Sano, T.6
Okada, S.7
Takai, S.8
Nishisho, I.9
-
16
-
-
0029882855
-
Deletion mapping of 22q11 in CATCH22 syndrome: Identification of a second critical region
-
Kurahashi H, Nakayama T, Osugi Y, Tsuda E, Masuno M, Imaizumi K, Kamiya T, Sano T, Okada S, Nishisho I (1996): Deletion mapping of 22q11 in CATCH22 syndrome: Identification of a second critical region. Am J Hum Genet 58:1377-1381.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1377-1381
-
-
Kurahashi, H.1
Nakayama, T.2
Osugi, Y.3
Tsuda, E.4
Masuno, M.5
Imaizumi, K.6
Kamiya, T.7
Sano, T.8
Okada, S.9
Nishisho, I.10
-
17
-
-
0028869111
-
Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome
-
Levy A, Demuczuk S, Aurias A, Depètris D, Mattei MG, Philip N (1995): Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Hum Mol Genet 4:2417-2419.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2417-2419
-
-
Levy, A.1
Demuczuk, S.2
Aurias, A.3
Depètris, D.4
Mattei, M.G.5
Philip, N.6
-
18
-
-
0028943334
-
Submicroscopic deletions at 22q11.2: Variability of the clinical picture and deliniation of a commonly deleted region
-
Lindsay EA, Greenberg F, Shaffer LG, Shapira SK, Scambler PJ, Baldini A (1995): Submicroscopic deletions at 22q11.2: Variability of the clinical picture and deliniation 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
Greenberg, F.2
Shaffer, L.G.3
Shapira, S.K.4
Scambler, P.J.5
Baldini, A.6
-
19
-
-
0029968116
-
A transcriptional map in the CATCH22 critical region: Identification, mapping, and ordering of four novel transcripts expressed in heart
-
Lindsay EA, Rizzu P, Antonacci R, Jurecic V, Delmas-Mata J, Lee CC, Kim UJ, Scambler PJ, Baldini A (1996): A transcriptional map in the CATCH22 critical region: Identification, mapping, and ordering of four novel transcripts expressed in heart. Genomics 32:104-112.
-
(1996)
Genomics
, vol.32
, pp. 104-112
-
-
Lindsay, E.A.1
Rizzu, P.2
Antonacci, R.3
Jurecic, V.4
Delmas-Mata, J.5
Lee, C.C.6
Kim, U.J.7
Scambler, P.J.8
Baldini, A.9
-
20
-
-
0022520161
-
Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor
-
Mierop LHS, Kutsche LM (1986): Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol 58:133-137.
-
(1986)
Am J Cardiol
, vol.58
, pp. 133-137
-
-
Mierop, L.H.S.1
Kutsche, L.M.2
-
21
-
-
0029033626
-
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome
-
Morrow B, Goldberg R, Carlson C, Gupta RD, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R, Kucherlapati R (1995): Molecular definition of the 22q11 deletions in velo-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
Gupta, R.D.4
Sirotkin, H.5
Collins, J.6
Dunham, I.7
O'Donnell, H.8
Scambler, P.9
Shprintzen, R.10
Kucherlapati, R.11
-
22
-
-
19144364568
-
Human homologue sequences to the Drosophila dishevelled segment-polority gene are deleted in the DiGeorge syndrome
-
Pizzuti A, Novelli G, Mari A, Ratti A, Colosimo A, Amati F, Penso D, Sangiuolo F, Calabrese G, Palka G, Silani, V, Gennarelli M, Mingarelli R, Scarlato G, Scambler P, Dallapiccola B (1996): Human homologue sequences to the Drosophila dishevelled segment-polority gene are deleted in the DiGeorge syndrome. Am J Hum Genet 58: 722-729.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 722-729
-
-
Pizzuti, A.1
Novelli, G.2
Mari, A.3
Ratti, A.4
Colosimo, A.5
Amati, F.6
Penso, D.7
Sangiuolo, F.8
Calabrese, G.9
Palka, G.10
Silani, V.11
Gennarelli, M.12
Mingarelli, R.13
Scarlato, G.14
Scambler, P.15
Dallapiccola, B.16
-
23
-
-
0023032968
-
The immunocompetence of children with congenital heart disease
-
Radford DJ, Lachman R, Thong YH (1986): The immunocompetence of children with congenital heart disease. Int Arch Allergy Immunol 81: 331-336.
-
(1986)
Int Arch Allergy Immunol
, vol.81
, pp. 331-336
-
-
Radford, D.J.1
Lachman, R.2
Thong, Y.H.3
-
24
-
-
0026511084
-
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
-
Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, Goodship JA, Cross IE, Burn J (1992): Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 339:1138-1139.
-
(1992)
Lancet
, vol.339
, pp. 1138-1139
-
-
Scambler, P.J.1
Kelly, D.2
Lindsay, E.3
Williamson, R.4
Goldberg, R.5
Shprintzen, R.6
Wilson, D.I.7
Goodship, J.A.8
Cross, I.E.9
Burn, J.10
-
26
-
-
0026725876
-
Deletions within chromosome 22q11 in familial congenital heart disease
-
Wilson DI, Goodship JA, Burn J, Cross IE, Scambler PJ (1992): Deletions within chromosome 22q11 in familial congenital heart disease. Lancet 340:573-575.
-
(1992)
Lancet
, vol.340
, pp. 573-575
-
-
Wilson, D.I.1
Goodship, J.A.2
Burn, J.3
Cross, I.E.4
Scambler, P.J.5
-
27
-
-
0025941287
-
DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin
-
Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J (1991): DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. Br Heart J 66:308-312.
-
(1991)
Br Heart J
, vol.66
, pp. 308-312
-
-
Wilson, D.I.1
Cross, I.E.2
Goodship, J.A.3
Coulthard, S.4
Carey, A.H.5
Scambler, P.J.6
Bain, H.H.7
Hunter, A.S.8
Carter, P.E.9
Burn, J.10
-
28
-
-
0023663195
-
Isolation and mapping of a polymorphic DNA sequence pEKZ19.3 on chromosome 9q (D9S17)
-
Wolff EK, Nakamura Y, Myers R, Gillilan S, O'Connell P, Leppert M, Lathrop GMJ, White R (1987): Isolation and mapping of a polymorphic DNA sequence pEKZ19.3 on chromosome 9q (D9S17). Nucleic Acids Res 15:10810.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 10810
-
-
Wolff, E.K.1
Nakamura, Y.2
Myers, R.3
Gillilan, S.4
O'Connell, P.5
Leppert, M.6
Lathrop, G.M.J.7
White, R.8
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