-
1
-
-
0032982031
-
Is the genetic basis of DiGeorge syndrome in HAND?
-
Baldini A. 1999. Is the genetic basis of DiGeorge syndrome in HAND? Nat Genet 21:246-247.
-
(1999)
Nat Genet
, vol.21
, pp. 246-247
-
-
Baldini, A.1
-
2
-
-
0033746705
-
Disease associated balanced chromosome rearrangements: A resource for large scale genotype-phenotype delineation in man
-
Bugge M, Bruun-Petersen G, Brondum-Nielsen K, Friedrich U, Hansen J, Jensen G, Jensen PK, Kristoffersson U, Lundsteen C, Niebuhr E, Rasmussen KR, Rasmussen K, Tommerup N. 2000. Disease associated balanced chromosome rearrangements: A resource for large scale genotype-phenotype delineation in man. J Med Genet 37:858-865.
-
(2000)
J Med Genet
, vol.37
, pp. 858-865
-
-
Bugge, M.1
Bruun-Petersen, G.2
Brondum-Nielsen, K.3
Friedrich, U.4
Hansen, J.5
Jensen, G.6
Jensen, P.K.7
Kristoffersson, U.8
Lundsteen, C.9
Niebuhr, E.10
Rasmussen, K.R.11
Rasmussen, K.12
Tommerup, N.13
-
5
-
-
0030959637
-
Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father: Clinical variability of 22q11 deletion
-
Devriendt K, Van Hoestenberghe R, Van Hole C, Devlieger H, Gewillig M, Moerman P, Van den Berghe H, Fryns JP. 1997. Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father: Clinical variability of 22q11 deletion. Clin Genet 51:246-249.
-
(1997)
Clin Genet
, vol.51
, pp. 246-249
-
-
Devriendt, K.1
Van Hoestenberghe, R.2
Van Hole, C.3
Devlieger, H.4
Gewillig, M.5
Moerman, P.6
Van den Berghe, H.7
Fryns, J.P.8
-
6
-
-
0031799613
-
Deletion in chromosome region 22q11 in a child with CHARGE association
-
Devriendt K, Swillen A, Fryns JP. 1998. Deletion in chromosome region 22q11 in a child with CHARGE association. Clin Genet 53:408-410.
-
(1998)
Clin Genet
, vol.53
, pp. 408-410
-
-
Devriendt, K.1
Swillen, A.2
Fryns, J.P.3
-
7
-
-
0026750771
-
A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
-
Driscoll DA, Budarf ML, Emanuel BS. 1992. A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am J Hum Genet 50:924-933.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 924-933
-
-
Driscoll, D.A.1
Budarf, M.L.2
Emanuel, B.S.3
-
8
-
-
0027400375
-
Velocardio-facial syndrome: Review of 120 patients
-
Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. 1993. Velocardio-facial syndrome: review of 120 patients. Am J Med Genet 45:313-319.
-
(1993)
Am J Med Genet
, vol.45
, pp. 313-319
-
-
Goldberg, R.1
Motzkin, B.2
Marion, R.3
Scambler, P.J.4
Shprintzen, R.J.5
-
9
-
-
0027373693
-
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
-
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
-
-
Goodship, J.1
-
10
-
-
0030995925
-
Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome
-
Jaquez M, Driscoll DA, Li M, Emanuel BS, Hernandez I, Jaquez F, Lembert N, Ramirez J, Matalon R. 1997. Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome. Am J Med Genet 70:6-10.
-
(1997)
Am J Med Genet
, vol.70
, pp. 6-10
-
-
Jaquez, M.1
Driscoll, D.A.2
Li, M.3
Emanuel, B.S.4
Hernandez, I.5
Jaquez, F.6
Lembert, N.7
Ramirez, J.8
Matalon, R.9
-
11
-
-
0032559315
-
Deletion of 22q11 in two brothers with different phenotypes
-
Kasprzak L, Kaloustian VM der, Elliott AM, Shevell M, Lejtenyi C, Eydioux P. 1998. Deletion of 22q11 in two brothers with different phenotypes. Am J Med Genet 75:288-291.
-
(1998)
Am J Med Genet
, vol.75
, pp. 288-291
-
-
Kasprzak, L.1
Der Kaloustian, V.M.2
Elliott, A.M.3
Shevell, M.4
Lejtenyi, C.5
Eydioux, P.6
-
12
-
-
0033822498
-
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes
-
KirchhoffM, Rose H, Maahr J, Gerdes T, Bugge M, Tommerup N, Tumer Z, Lespinasse J, Jensen PKA, Wirth J, Lundsteen C. 2000. High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes. Eur J Hum Genet 8:661-668.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 661-668
-
-
Kirchhoff, M.1
Rose, H.2
Maahr, J.3
Gerdes, T.4
Bugge, M.5
Tommerup, N.6
Tumer, Z.7
Lespinasse, J.8
Jensen, P.K.A.9
Wirth, J.10
Lundsteen, C.11
-
13
-
-
0033552424
-
Subtle chromosomal rearrangements in children with unexplained mental retardation
-
Knight SJL, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681.
-
(1999)
Lancet
, vol.354
, pp. 1676-1681
-
-
Knight, S.J.L.1
Regan, R.2
Nicod, A.3
Horsley, S.W.4
Kearney, L.5
Homfray, T.6
Winter, R.M.7
Bolton, P.8
Flint, J.9
-
14
-
-
0030612055
-
Idiopathic thrombocytopenic purpura in two mothers of children with Di George sequence: A new component manifestation of deletion 22q11?
-
Levy A, Michel G, Lemerrer M, Philip N. 1997. Idiopathic thrombocytopenic purpura in two mothers of children with Di George sequence: A new component manifestation of deletion 22q11? Am J Med Genet 69:356-359.
-
(1997)
Am J Med Genet
, vol.69
, pp. 356-359
-
-
Levy, A.1
Michel, G.2
Lemerrer, M.3
Philip, N.4
-
15
-
-
0025833053
-
Velocardiofacial (Shprintzen) syndrome: An important syndrome for the dysmorphologist to recognise
-
Lipson AH, Yuille D, Angel M, Thompson PG, Vandervoord JG, Beckenham EJ. 1991. Velocardiofacial (Shprintzen) syndrome: An important syndrome for the dysmorphologist to recognise. J Med Genet 28:596-604.
-
(1991)
J Med Genet
, vol.28
, pp. 596-604
-
-
Lipson, A.H.1
Yuille, D.2
Angel, M.3
Thompson, P.G.4
Vandervoord, J.G.5
Beckenham, E.J.6
-
16
-
-
0026728603
-
Terminal 22q deletion associated with a partial deficiency of arylsuphatase A
-
Narahara K, Takahashi Y, Murakami M, Tsuji K, Yokoyama Y, Murakami R, Ninomiya S, Seino Y. 1992. Terminal 22q deletion associated with a partial deficiency of arylsuphatase A. J Med Genet 29:432-433.
-
(1992)
J Med Genet
, vol.29
, pp. 432-433
-
-
Narahara, K.1
Takahashi, Y.2
Murakami, M.3
Tsuji, K.4
Yokoyama, Y.5
Murakami, R.6
Ninomiya, S.7
Seino, Y.8
-
17
-
-
0028053136
-
Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3
-
Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegal-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE. 1994. Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet 54:464-472.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 464-472
-
-
Nesslinger, N.J.1
Gorski, J.L.2
Kurczynski, T.W.3
Shapira, S.K.4
Siegal-Bartelt, J.5
Dumanski, J.P.6
Cullen R.F., Jr.7
French, B.N.8
McDermid, H.E.9
-
18
-
-
0030444261
-
Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations
-
Ravnan JB, Chen E, Golabi M, Lebo RV. 1996. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am J Med Genet 66:250-256.
-
(1996)
Am J Med Genet
, vol.66
, pp. 250-256
-
-
Ravnan, J.B.1
Chen, E.2
Golabi, M.3
Lebo, R.V.4
-
19
-
-
0029963475
-
Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY,der(4)t(4;22)(p16.3q11.2)mat,-22
-
Reddy KS, Sulcova V, Siassi B. 1996. Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY,der(4)t(4;22)(p16.3q11.2)mat,-22. J Med Genet 33:852-855.
-
(1996)
J Med Genet
, vol.33
, pp. 852-855
-
-
Reddy, K.S.1
Sulcova, V.2
Siassi, B.3
-
20
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletion: A European collaborative study
-
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oeschler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletion: A European collaborative study. J Med Genet 34:798-804.
-
(1997)
J Med Genet
, vol.34
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
Philip, N.4
Levy, A.5
Seidel, H.6
Schuffenhauer, S.7
Oeschler, H.8
Belohradsky, B.9
Prieur, M.10
Aurias, A.11
Raymond, F.L.12
Clayton-Smith, J.13
Hatchwell, E.14
McKeown, C.15
Beemer, F.A.16
Dallapiccola, B.17
Novelli, G.18
Hurst, J.A.19
Ignatius, J.20
Green, A.J.21
Winter, R.M.22
Brueton, L.23
Brondum-Nielsen, K.24
Stewart, F.25
Van Essen, T.26
Patton, M.27
Paterson, J.28
Scambler, P.J.29
more..
-
21
-
-
0011821650
-
DiGeorge syndrome and related birth defects
-
Scambler PJ. 1994. DiGeorge syndrome and related birth defects. Develop Biol 5:303-310.
-
(1994)
Develop Biol
, vol.5
, pp. 303-310
-
-
Scambler, P.J.1
-
22
-
-
13144252168
-
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)
-
Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas O, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T. 1998. Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur J Hum Genet 6:213-225.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 213-225
-
-
Schuffenhauer, S.1
Lichtner, P.2
Peykar-Derakhshandeh, P.3
Murken, J.4
Haas, O.5
Back, E.6
Wolff, G.7
Zabel, B.8
Barisic, I.9
Rauch, A.10
Borochowitz, Z.11
Dallapiccola, B.12
Ross, M.13
Meitinger, T.14
-
23
-
-
0023245097
-
Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome
-
Schwanitz G, Zerres K. 1987. Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome. Ann Genet 30:80-84.
-
(1987)
Ann Genet
, vol.30
, pp. 80-84
-
-
Schwanitz, G.1
Zerres, K.2
-
24
-
-
0028246223
-
Velocardiofacial syndrome and DiGeorge sequence
-
Shprintzen RJ. 1994. Velocardiofacial syndrome and DiGeorge sequence. J Med Genet 31:423-424.
-
(1994)
J Med Genet
, vol.31
, pp. 423-424
-
-
Shprintzen, R.J.1
-
25
-
-
0033609920
-
Low frequency of inherited deletions of 22q11
-
Smith A, Robson L. 1999. Low frequency of inherited deletions of 22q11. Am J Med Genet 85:513-514.
-
(1999)
Am J Med Genet
, vol.85
, pp. 513-514
-
-
Smith, A.1
Robson, L.2
-
26
-
-
0034527015
-
Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome
-
Smith A, Jauch A, St Heaps L, Robson L, Kearney K. 2000. Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome. Ann Genet 43:125-130.
-
(2000)
Ann Genet
, vol.43
, pp. 125-130
-
-
Smith, A.1
Jauch, A.2
St. Heaps, L.3
Robson, L.4
Kearney, K.5
-
27
-
-
0031009068
-
Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS
-
Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M, Fryns JP. 1997. Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS. J Med Genet 34:453-458.
-
(1997)
J Med Genet
, vol.34
, pp. 453-458
-
-
Swillen, A.1
Devriendt, K.2
Legius, E.3
Eyskens, B.4
Dumoulin, M.5
Gewillig, M.6
Fryns, J.P.7
-
28
-
-
0033590681
-
Child with velocardiofacial syndrome and del(4)(q34.2): Another critical region with a velocardiofacial syndrome-like phenotype
-
Tsai CH, Van Dyke DL, Feldman GL. 1999. Child with velocardiofacial syndrome and del(4)(q34.2): Another critical region with a velocardiofacial syndrome-like phenotype. Am J Med Genet 82:336-339.
-
(1999)
Am J Med Genet
, vol.82
, pp. 336-339
-
-
Tsai, C.H.1
Van Dyke, D.L.2
Feldman, G.L.3
-
29
-
-
0031924716
-
Growth hormone deficiency in patients with 22q11.2 deletion: Expanding the phenotype
-
Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Moshang T Jr. 1998. Growth hormone deficiency in patients with 22q11.2 deletion: Expanding the phenotype. Pediatr 101:929-932.
-
(1998)
Pediatr
, vol.101
, pp. 929-932
-
-
Weinzimer, S.A.1
McDonald-McGinn, D.M.2
Driscoll, D.A.3
Emanuel, B.S.4
Zackai, E.H.5
Moshang T., Jr.6
|