-
1
-
-
0025796855
-
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
-
PJ Scambler AH Carey RKH Wyse Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome Genomics 10 1991 201 206
-
(1991)
Genomics
, vol.10
, pp. 201-206
-
-
Scambler, PJ1
Carey, AH2
Wyse, RKH3
-
2
-
-
0026688328
-
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
-
AH Carey D Kelly S Halford Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome Am J Hum Genet 51 1992 964 970
-
(1992)
Am J Hum Genet
, vol.51
, pp. 964-970
-
-
Carey, AH1
Kelly, D2
Halford, S3
-
3
-
-
0026750771
-
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11
-
DA Driscoll ML Budarf BS. Emanuel A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11 Am J Hum Genet 50 1992 924 933
-
(1992)
Am J Hum Genet
, vol.50
, pp. 924-933
-
-
Driscoll, DA1
Budarf, ML2
Emanuel, BS.3
-
4
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis
-
DA Driscoll J Salvin B Sellinger Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis J Med Genet 30 1993 813 817
-
(1993)
J Med Genet
, vol.30
, pp. 813-817
-
-
Driscoll, DA1
Salvin, J2
Sellinger, B3
-
5
-
-
85114536309
-
-
Scambler PJ, Kelly D, Lindsay E, et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 1192;339:1138–9.
-
-
-
-
6
-
-
0026662962
-
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
-
DA Driscoll NB Spinner ML Budarf Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome Am J Hum Genet 44 1992 261 268
-
(1992)
Am J Hum Genet
, vol.44
, pp. 261-268
-
-
Driscoll, DA1
Spinner, NB2
Budarf, ML3
-
7
-
-
0027459424
-
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosomes 22q11
-
D Kelly R Goldberg D Wilson Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosomes 22q11 Am J Med Genet 45 1993 308 312
-
(1993)
Am J Med Genet
, vol.45
, pp. 308-312
-
-
Kelly, D1
Goldberg, R2
Wilson, D3
-
8
-
-
0026725876
-
Deletions within chromosome 22q11 in familial congenital heart disease
-
DI Wilson JA Goodship J Burn IE Cross PJ. Scambler Deletions within chromosome 22q11 in familial congenital heart disease Lancet 340 1992 573 575
-
(1992)
Lancet
, vol.340
, pp. 573-575
-
-
Wilson, DI1
Goodship, JA2
Burn, J3
Cross, IE4
Scambler, PJ.5
-
9
-
-
0022520161
-
Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor
-
LHS Van Mierop LM. Kutsche Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor Am J Cardiol 58 1986 133 137
-
(1986)
Am J Cardiol
, vol.58
, pp. 133-137
-
-
Van Mierop, LHS1
Kutsche, LM.2
-
10
-
-
0018958457
-
Cardiac malformations in the velocardiofacial syndrome
-
D Young RJ Shprintzen RB. Goldberg Cardiac malformations in the velocardiofacial syndrome Am J Cardiol 46 1980 643 648
-
(1980)
Am J Cardiol
, vol.46
, pp. 643-648
-
-
Young, D1
Shprintzen, RJ2
Goldberg, RB.3
-
11
-
-
0027442395
-
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects
-
E Goldmuntz D Driscoll ML Budarf Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects J Med Genet 30 1993 807 812
-
(1993)
J Med Genet
, vol.30
, pp. 807-812
-
-
Goldmuntz, E1
Driscoll, D2
Budarf, ML3
-
12
-
-
0024992614
-
Role of neural crest in congenital heart disease
-
ML Kirby KL. Waldo Role of neural crest in congenital heart disease Circulation 82 1990 332 340
-
(1990)
Circulation
, vol.82
, pp. 332-340
-
-
Kirby, ML1
Waldo, KL.2
-
14
-
-
0027373693
-
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
-
J Burn A Takao D Wilson Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11 J Med Genet 30 1993 822 824
-
(1993)
J Med Genet
, vol.30
, pp. 822-824
-
-
Burn, J1
Takao, A2
Wilson, D3
-
16
-
-
0028943334
-
Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region
-
EA Lindsay F Greenberg LG Schaffer SK Shapira PJ Scambler A. Baldini Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region Am J Med Genet 56 1995 191 197
-
(1995)
Am J Med Genet
, vol.56
, pp. 191-197
-
-
Lindsay, EA1
Greenberg, F2
Schaffer, LG3
Shapira, SK4
Scambler, PJ5
Baldini, A.6
-
17
-
-
0020629324
-
Fluorodeoxycuridine synchronisation of bone marrow cultures
-
L Webber M. Garson Fluorodeoxycuridine synchronisation of bone marrow cultures Cancer Genet Cytogenet 8 1983 123 132
-
(1983)
Cancer Genet Cytogenet
, vol.8
, pp. 123-132
-
-
Webber, L1
Garson, M.2
-
18
-
-
0343319476
-
Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4
-
D Pinkel J Landegent C Collins Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4 Proc Natl Acad Sci USA 85 1988 9138 9142
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 9138-9142
-
-
Pinkel, D1
Landegent, J2
Collins, C3
-
19
-
-
0027485453
-
Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134)
-
R Wadey S Daw A Wickremasinghe Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134) J Med Genet 30 1993 818 821
-
(1993)
J Med Genet
, vol.30
, pp. 818-821
-
-
Wadey, R1
Daw, S2
Wickremasinghe, A3
-
20
-
-
0027731681
-
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease
-
S Halford R Wadey C Roberts 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 1993 2099 2107
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2099-2107
-
-
Halford, S1
Wadey, R2
Roberts, C3
-
21
-
-
0028855774
-
Toward a molecular understanding of congenital heart disease
-
RM Payne MC Johnson JW Grant AW. Strauss Toward a molecular understanding of congenital heart disease Circulation 91 1995 494 504
-
(1995)
Circulation
, vol.91
, pp. 494-504
-
-
Payne, RM1
Johnson, MC2
Grant, JW3
Strauss, AW.4
-
22
-
-
0027422074
-
CATCH 22 [editorial]
-
JG. Hall CATCH 22 [editorial] J Med Genet 30 1993 801 802
-
(1993)
J Med Genet
, vol.30
, pp. 801-802
-
-
Hall, JG.1
-
23
-
-
0027372307
-
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype
-
SE Holder RM Winter S Kamath PJ. Scambler Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype J Med Genet 30 1993 825 827
-
(1993)
J Med Genet
, vol.30
, pp. 825-827
-
-
Holder, SE1
Winter, RM2
Kamath, S3
Scambler, PJ.4
-
24
-
-
0025941287
-
DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin
-
DI Wilson IE Cross J Goodship 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 1991 308 312
-
(1991)
Br Heart J
, vol.66
, pp. 308-312
-
-
Wilson, DI1
Cross, IE2
Goodship, J3
-
26
-
-
0027359791
-
Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases
-
C Desmaze M Prieur F Amblard Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases Am J Hum Genet 53 1993 1239 1249
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1239-1249
-
-
Desmaze, C1
Prieur, M2
Amblard, F3
-
27
-
-
0026739254
-
A prospective cytogenetic study of 36 cases of DiGeorge syndrome
-
DI Wilson IE Cross JA Goodship A prospective cytogenetic study of 36 cases of DiGeorge syndrome Am J Hum Genet 51 1992 957 963
-
(1992)
Am J Hum Genet
, vol.51
, pp. 957-963
-
-
Wilson, DI1
Cross, IE2
Goodship, JA3
-
28
-
-
0022939117
-
The DiGeorge anomaly as a developmental field defect
-
EJ Lammer JM. Opitz The DiGeorge anomaly as a developmental field defect Am J Med Genet [Suppl] 2 1986 113 127
-
(1986)
Am J Med Genet [Suppl]
, vol.2
, pp. 113-127
-
-
Lammer, EJ1
Opitz, JM.2
-
29
-
-
84901971390
-
Cardiovascular anomalies in the conotruncal anomaly face syndrome
-
A Takao M Terai M Ando K. Momma Cardiovascular anomalies in the conotruncal anomaly face syndrome EF Doyle MA Engle WM Gersony Pediatric cardiology. Proceedings of the Second World Congress. 1985 : Springer-Verlag New York 926 928
-
(1985)
, pp. 926-928
-
-
Takao, A1
Terai, M2
Ando, M3
Momma, K.4
-
30
-
-
0028019184
-
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
-
R Matsuoka A Takao M Kimura Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2 Am J Med Genet 53 1994 285 289
-
(1994)
Am J Med Genet
, vol.53
, pp. 285-289
-
-
Matsuoka, R1
Takao, A2
Kimura, M3
-
31
-
-
0028990403
-
22q11 Deletions in isolated and syndromic patients with tetralogy of Fallot
-
F Amati A Mari MC Digilio 22q11 Deletions in isolated and syndromic patients with tetralogy of Fallot Hum Genet 95 1995 479 482
-
(1995)
Hum Genet
, vol.95
, pp. 479-482
-
-
Amati, F1
Mari, A2
Digilio, MC3
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