-
1
-
-
14444275052
-
Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion
-
9461360 10.1007/s004310050762 1:STN:280:DyaK1c7itFamug%3D%3D
-
Adachi M, Tachibana K, Masuno M, Makita Y, Maesaka H, Okada T, Hizukuri K, Imaizumi K, Kuroki Y, Kurahashi H, Suwa S (1998) Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. Eur J Pediatr 157(1):34-38
-
(1998)
Eur J Pediatr
, vol.157
, Issue.1
, pp. 34-38
-
-
Adachi, M.1
Tachibana, K.2
Masuno, M.3
Makita, Y.4
Maesaka, H.5
Okada, T.6
Hizukuri, K.7
Imaizumi, K.8
Kuroki, Y.9
Kurahashi, H.10
Suwa, S.11
-
2
-
-
79951950285
-
Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review
-
20965293 10.1016/j.ejmg.2010.09.016
-
Agergaard P, Hebert A, Sørensen KM, Ostergaard JR, Olesen C (2011) Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review. Eur J Med Genet 54(1):3-8
-
(2011)
Eur J Med Genet
, vol.54
, Issue.1
, pp. 3-8
-
-
Agergaard, P.1
Hebert, A.2
Sørensen, K.M.3
Ostergaard, J.R.4
Olesen, C.5
-
3
-
-
0033380870
-
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome
-
10602366 10.1038/sj.ejhg.5200399 1:CAS:528:DC%2BD3cXnsVKitg%3D%3D
-
Amati F, Conti E, Novelli A, Bengala M, Diglio MC, Marino B, Giannotti A, Gabrielli O, Novelli G, Dallapiccola B (1999) Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet 7(8):903-909
-
(1999)
Eur J Hum Genet
, vol.7
, Issue.8
, pp. 903-909
-
-
Amati, F.1
Conti, E.2
Novelli, A.3
Bengala, M.4
Diglio, M.C.5
Marino, B.6
Giannotti, A.7
Gabrielli, O.8
Novelli, G.9
Dallapiccola, B.10
-
4
-
-
0028990403
-
22q11 deletions in isolated and syndromic patients with Tetralogy of Fallot
-
7759065 10.1007/BF00223856 1:STN:280:DyaK2M3nvVyquw%3D%3D
-
Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, Novelli G, Dallapiccola B (1995) 22q11 deletions in isolated and syndromic patients with Tetralogy of Fallot. Hum Genet 95(5):479-482
-
(1995)
Hum Genet
, vol.95
, Issue.5
, pp. 479-482
-
-
Amati, F.1
Mari, A.2
Digilio, M.C.3
Mingarelli, R.4
Marino, B.5
Giannotti, A.6
Novelli, G.7
Dallapiccola, B.8
-
5
-
-
0035575466
-
Screening for 22q11 deletions in a schizophrenia population
-
11705710 10.1016/S0920-9964(00)00192-4 1:STN:280:DC%2BD3MnltlClsQ%3D%3D
-
Arinami T, Ohtsuki T, Takase K, Shimizu H, Yoshikawa T, Horigome H, Nakayama J, Toru M (2001) Screening for 22q11 deletions in a schizophrenia population. Schizophr Res 52(3):167-170
-
(2001)
Schizophr Res
, vol.52
, Issue.3
, pp. 167-170
-
-
Arinami, T.1
Ohtsuki, T.2
Takase, K.3
Shimizu, H.4
Yoshikawa, T.5
Horigome, H.6
Nakayama, J.7
Toru, M.8
-
6
-
-
0038074204
-
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
-
12548732 10.1002/ajmg.a.10914
-
Bartsch O, Nemecková M, Kocárek E, Wagner A, Puchmajerová A, Poppe M, Ounap K, Goetz P (2003) DiGeorge/ velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet A 117A(1):1-5
-
(2003)
Am J Med Genet A
, vol.117
, Issue.1
, pp. 1-5
-
-
Bartsch, O.1
Nemecková, M.2
Kocárek, E.3
Wagner, A.4
Puchmajerová, A.5
Poppe, M.6
Ounap, K.7
Goetz, P.8
-
7
-
-
38349062537
-
22q11 Deletion in children with cleft lip and palate - Is routine screening justified?
-
17707704 10.1016/j.bjps.2007.06.018
-
Bashir MA, Hodgkinson PD, Montgomery T, Splitt M (2008) 22q11 Deletion in children with cleft lip and palate - is routine screening justified? J Plast Reconstr Aesthet Surg 61(2):130-132
-
(2008)
J Plast Reconstr Aesthet Surg
, vol.61
, Issue.2
, pp. 130-132
-
-
Bashir, M.A.1
Hodgkinson, P.D.2
Montgomery, T.3
Splitt, M.4
-
8
-
-
49649124127
-
Schizophrenia and 22q11.2 deletion syndrome
-
18474208 10.1007/s11920-008-0026-1
-
Bassett AS, Chow EW (2008) Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep 10(2):148-157
-
(2008)
Curr Psychiatry Rep
, vol.10
, Issue.2
, pp. 148-157
-
-
Bassett, A.S.1
Chow, E.W.2
-
9
-
-
0032503887
-
22q11 deletion syndrome in adults with schizophrenia
-
9674980 10.1002/(SICI)1096-8628(19980710)81:4<328: AID-AJMG10>3.0.CO;2-N 1:STN:280:DyaK1czjslOgtQ%3D%3D
-
Bassett AS, Hodgkinson K, Chow EW, Correia S, Scutt LE, Weksberg R (1998) 22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet 81(4):328-337
-
(1998)
Am J Med Genet
, vol.81
, Issue.4
, pp. 328-337
-
-
Bassett, A.S.1
Hodgkinson, K.2
Chow, E.W.3
Correia, S.4
Scutt, L.E.5
Weksberg, R.6
-
10
-
-
0031945026
-
High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions
-
9536094 10.1093/hmg/7.5.887 1:CAS:528:DyaK1cXjsVart7w%3D
-
Baumer A, Dutly F, Balmer D, Riegel M, Tükel T, Krajewska-Walasek M, Schinzel AA (1998) High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions. Hum Mol Genet 7(5):887-894
-
(1998)
Hum Mol Genet
, vol.7
, Issue.5
, pp. 887-894
-
-
Baumer, A.1
Dutly, F.2
Balmer, D.3
Riegel, M.4
Tükel, T.5
Krajewska-Walasek, M.6
Schinzel, A.A.7
-
11
-
-
13544259700
-
Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies
-
15708709 10.1016/j.jacc.2004.10.056 1:CAS:528:DC%2BD2MXhtlSmsr4%3D
-
Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Jalal SM, Michels VV (2005) Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies. J Am Coll Cardiol 45(4):595-598
-
(2005)
J Am Coll Cardiol
, vol.45
, Issue.4
, pp. 595-598
-
-
Beauchesne, L.M.1
Warnes, C.A.2
Connolly, H.M.3
Ammash, N.M.4
Grogan, M.5
Jalal, S.M.6
Michels, V.V.7
-
12
-
-
0035835975
-
Velopharyngeal incompetence and chromosome 22q11 deletion
-
11253977 10.1016/S0140-6736(00)04183-0 1:STN:280:DC%2BD3M7pvVGgtw%3D%3D
-
Boorman JG, Varma S, Ogilvie CM (2001) Velopharyngeal incompetence and chromosome 22q11 deletion. Lancet 357(9258):774
-
(2001)
Lancet
, vol.357
, Issue.9258
, pp. 774
-
-
Boorman, J.G.1
Varma, S.2
Ogilvie, C.M.3
-
13
-
-
0032756249
-
A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: No evidence for deletions in non-syndromic patients
-
10592069 10.1007/s004310051257 1:STN:280:DC%2BD3c%2FlvFKltQ%3D%3D
-
Borgmann S, Luhmer I, Arslan-Kirchner M, Kallfelz HC, Schmidtke J (1999) A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients. Eur J Pediatr 158(12):958-963
-
(1999)
Eur J Pediatr
, vol.158
, Issue.12
, pp. 958-963
-
-
Borgmann, S.1
Luhmer, I.2
Arslan-Kirchner, M.3
Kallfelz, H.C.4
Schmidtke, J.5
-
14
-
-
0038419517
-
A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
-
12837874 10.1542/peds.112.1.101
-
Botto LD et al (2003) A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112(1 Pt 1):101-107
-
(2003)
Pediatrics
, vol.112
, Issue.1 PART 1
, pp. 101-107
-
-
Botto, L.D.1
-
15
-
-
33750586880
-
Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/velocardiofacial syndrome
-
17041934
-
Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballín MR, Guitart M (2006) Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/velocardiofacial syndrome. Am J Med Genet A 140(22):2426-2432
-
(2006)
Am J Med Genet A
, vol.140
, Issue.22
, pp. 2426-2432
-
-
Brunet, A.1
Gabau, E.2
Perich, R.M.3
Valdesoiro, L.4
Brun, C.5
Caballín, M.R.6
Guitart, M.7
-
16
-
-
16944364251
-
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
-
9326327 10.1086/515508 1:CAS:528:DyaK2sXmsV2ks7w%3D
-
Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE (1997) Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 61(3):620-629
-
(1997)
Am J Hum Genet
, vol.61
, Issue.3
, pp. 620-629
-
-
Carlson, C.1
Sirotkin, H.2
Pandita, R.3
Goldberg, R.4
McKie, J.5
Wadey, R.6
Patanjali, S.R.7
Weissman, S.M.8
Anyane-Yeboa, K.9
Warburton, D.10
Scambler, P.11
Shprintzen, R.12
Kucherlapati, R.13
Morrow, B.E.14
-
17
-
-
44149094257
-
Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome
-
18636635 10.1002/ddrr.6
-
Carotti A, Digilio MC, Piacentini G, Saffirio C, Di Donato RM, Marino B (2008) Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev 14(1):35-42
-
(2008)
Dev Disabil Res Rev
, vol.14
, Issue.1
, pp. 35-42
-
-
Carotti, A.1
Digilio, M.C.2
Piacentini, G.3
Saffirio, C.4
Di Donato, R.M.5
Marino, B.6
-
18
-
-
0014471310
-
Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association
-
5765991 10.1136/adc.44.233.69 1:STN:280:DyaF1M7hsFSlug%3D%3D
-
Cayler GG (1969) Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch Dis Child 44:69-75
-
(1969)
Arch Dis Child
, vol.44
, pp. 69-75
-
-
Cayler, G.G.1
-
19
-
-
0031920989
-
Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in Tetralogy of Fallot and pulmonary atresia-ventricular septal defect
-
9538314 1:STN:280:DyaK1c7pvFWitw%3D%3D
-
Chessa M, Butera G, Bonhoeffer P, Iserin L, Kachaner J, Lyonnet S, Munnich A, Sidi D, Bonnet D (1998) Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in Tetralogy of Fallot and pulmonary atresia-ventricular septal defect. Heart 79(2):186-190
-
(1998)
Heart
, vol.79
, Issue.2
, pp. 186-190
-
-
Chessa, M.1
Butera, G.2
Bonhoeffer, P.3
Iserin, L.4
Kachaner, J.5
Lyonnet, S.6
Munnich, A.7
Sidi, D.8
Bonnet, D.9
-
20
-
-
0035196538
-
22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes
-
11801894 10.1097/00008480-200110000-00014 1:STN:280: DC%2BD38%2FntlClsw%3D%3D
-
Cuneo BF (2001) 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr 13(5):465-472
-
(2001)
Curr Opin Pediatr
, vol.13
, Issue.5
, pp. 465-472
-
-
Cuneo, B.F.1
-
21
-
-
0037438595
-
Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects
-
12494430 10.1002/ajmg.a.10832
-
Derbent M, Yilmaz Z, Baltaci V, Saygili A, Varan B, Tokel K (2003) Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am J Med Genet A 116A(2):129-135
-
(2003)
Am J Med Genet A
, vol.116
, Issue.2
, pp. 129-135
-
-
Derbent, M.1
Yilmaz, Z.2
Baltaci, V.3
Saygili, A.4
Varan, B.5
Tokel, K.6
-
22
-
-
0000399572
-
Congenital absence of the thymus and its immunologic consequences: Concurrence with congenital hypoparathyroidism
-
DiGeorge AM (1968) Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. Birth Defects Orig Ser Art IV(1):116-121
-
(1968)
Birth Defects Orig ser Art
, vol.4
, Issue.1
, pp. 116-121
-
-
Digeorge, A.M.1
-
23
-
-
79953306632
-
The 22q11.2 microdeletion: Fifteen years of insights into the genetic and neural complexity of psychiatric disorders
-
20920576 10.1016/j.ijdevneu.2010.09.007 1:CAS:528:DC%2BC3MXks1Wqu7Y%3D
-
Drew LJ, Crabtree GW, Markx S, Stark KL, Chaverneff F, Xu B, Mukai J, Fenelon K, Hsu PK, Gogos JA, Karayiorgou M (2011) The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders. Int J Dev Neurosci 29(3):259-281
-
(2011)
Int J Dev Neurosci
, vol.29
, Issue.3
, pp. 259-281
-
-
Drew, L.J.1
Crabtree, G.W.2
Markx, S.3
Stark, K.L.4
Chaverneff, F.5
Xu, B.6
Mukai, J.7
Fenelon, K.8
Hsu, P.K.9
Gogos, J.A.10
Karayiorgou, M.11
-
24
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
-
8230155 10.1136/jmg.30.10.813 1:STN:280:DyaK2c%2FkslSjtw%3D%3D
-
Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS (1993) Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 30(10):813-817
-
(1993)
J Med Genet
, vol.30
, Issue.10
, pp. 813-817
-
-
Driscoll, D.A.1
Salvin, J.2
Sellinger, B.3
Budarf, M.L.4
McDonald-Mcginn, D.M.5
Zackai, E.H.6
Emanuel, B.S.7
-
25
-
-
0032790898
-
A common molecular basis for rearrangement disorders on chromosome 22q11
-
10369860 10.1093/hmg/8.7.1157 1:CAS:528:DyaK1MXkslSlsLw%3D
-
Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE (1999) A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 8(7):1157-1167
-
(1999)
Hum Mol Genet
, vol.8
, Issue.7
, pp. 1157-1167
-
-
Edelmann, L.1
Pandita, R.K.2
Spiteri, E.3
Funke, B.4
Goldberg, R.5
Palanisamy, N.6
Chaganti, R.S.7
Magenis, E.8
Shprintzen, R.J.9
Morrow, B.E.10
-
26
-
-
25144479378
-
Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome
-
16143025 10.1111/j.1399-0004.2005.00493.x 1:STN:280: DC%2BD2MvnsVegtw%3D%3D
-
Fernandez L, Lapunzina P, Arjona D, Lopez Pajares I, Garcia-Guereta L, Elorza D, Burgueros M, De Torres ML, Mori MA, Palomares M, Garcia-Alix A, Delicado A (2005) Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet 68:373-378
-
(2005)
Clin Genet
, vol.68
, pp. 373-378
-
-
Fernandez, L.1
Lapunzina, P.2
Arjona, D.3
Lopez Pajares, I.4
Garcia-Guereta, L.5
Elorza, D.6
Burgueros, M.7
De Torres, M.L.8
Mori, M.A.9
Palomares, M.10
Garcia-Alix, A.11
Delicado, A.12
-
27
-
-
0031881461
-
22q11.2 deletions in a series of patients with non-selective congenital heart defects: Incidence, type of defects and parental origin
-
9550365 10.1034/j.1399-0004.1998.531530113.x 1:STN:280: DyaK1c3gvFOgtw%3D%3D
-
Fokstuen S, Arbenz U, Artan S, Dutly F, Bauersfeld U, Brecevic L, Fasnacht M, Röthlisberger B, Schinzel A (1998) 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin. Clin Genet 53(1):63-69
-
(1998)
Clin Genet
, vol.53
, Issue.1
, pp. 63-69
-
-
Fokstuen, S.1
Arbenz, U.2
Artan, S.3
Dutly, F.4
Bauersfeld, U.5
Brecevic, L.6
Fasnacht, M.7
Röthlisberger, B.8
Schinzel, A.9
-
28
-
-
0027984160
-
Cayler cardiofacial syndrome and del 22q11: Part of the CATCH22 phenotype
-
7856669 10.1002/ajmg.1320530320 1:STN:280:DyaK2M7mtVSntw%3D%3D
-
Giannotti A, Digilio MC, Marino B, Mingarelli R, Dallapiccola B (1994) Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am J Med Genet 53:303-304
-
(1994)
Am J Med Genet
, vol.53
, pp. 303-304
-
-
Giannotti, A.1
Digilio, M.C.2
Marino, B.3
Mingarelli, R.4
Dallapiccola, B.5
-
29
-
-
43049183037
-
Frequency of 22q11.2 microdeletion in sporadic non-syndromic Tetralogy of Fallot cases
-
17604138 10.1016/j.ijcard.2007.04.043 1:STN:280:DC%2BD1czhvVSlug%3D%3D
-
Gioli-Pereira L, Pereira AC, Bergara D, Mesquita S, Lopes AA, Krieger JE (2008) Frequency of 22q11.2 microdeletion in sporadic non-syndromic Tetralogy of Fallot cases. Int J Cardiol 126(3):374-378
-
(2008)
Int J Cardiol
, vol.126
, Issue.3
, pp. 374-378
-
-
Gioli-Pereira, L.1
Pereira, A.C.2
Bergara, D.3
Mesquita, S.4
Lopes, A.A.5
Krieger, J.E.6
-
30
-
-
17444434198
-
Frequency of 22q11 deletions in patients with conotruncal defects
-
9708481 10.1016/S0735-1097(98)00259-9 1:STN:280:DyaK1cznt1WrtA%3D%3D
-
Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA (1998) Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32(2):492-498
-
(1998)
J Am Coll Cardiol
, vol.32
, Issue.2
, pp. 492-498
-
-
Goldmuntz, E.1
Clark, B.J.2
Mitchell, L.E.3
Jawad, A.F.4
Cuneo, B.F.5
Reed, L.6
McDonald-Mcginn, D.7
Chien, P.8
Feuer, J.9
Zackai, E.H.10
Emanuel, B.S.11
Driscoll, D.A.12
-
31
-
-
0031671548
-
A population study of chromosome 22q11 deletions in infancy
-
9875047 10.1136/adc.79.4.348 1:STN:280:DyaK1M%2Fpt1ajtA%3D%3D
-
Goodship J, Cross I, LiLing J, Wren C (1998) A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 79(4):348-351
-
(1998)
Arch Dis Child
, vol.79
, Issue.4
, pp. 348-351
-
-
Goodship, J.1
Cross, I.2
Liling, J.3
Wren, C.4
-
32
-
-
0030834036
-
Velocardiofacial manifestations and microdeletions in schizophrenic inpatients
-
9375731 10.1002/(SICI)1096-8628(19971112)72:4<455: AID-AJMG16>3.0.CO;2-Q 1:STN:280:DyaK1c%2FktFGkuw%3D%3D
-
Gothelf D, Frisch A, Munitz H, Rockah R, Aviram A, Mozes T, Birger M, Weizman A, Frydman M (1997) Velocardiofacial manifestations and microdeletions in schizophrenic inpatients. Am J Med Genet 72(4):455-461
-
(1997)
Am J Med Genet
, vol.72
, Issue.4
, pp. 455-461
-
-
Gothelf, D.1
Frisch, A.2
Munitz, H.3
Rockah, R.4
Aviram, A.5
Mozes, T.6
Birger, M.7
Weizman, A.8
Frydman, M.9
-
33
-
-
77953719529
-
Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India
-
20573211 10.1186/1471-2350-11-101
-
Halder A, Jain M, Chaudhary I, Kabra M (2010) Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India. BMC Med Genet 11:101
-
(2010)
BMC Med Genet
, vol.11
, pp. 101
-
-
Halder, A.1
Jain, M.2
Chaudhary, I.3
Kabra, M.4
-
34
-
-
35548969267
-
Deletion 22q11: Spectrum of associated disorders
-
17980310 10.1016/j.spen.2007.07.005
-
Hay BN (2007) Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136-139
-
(2007)
Semin Pediatr Neurol
, vol.14
, Issue.3
, pp. 136-139
-
-
Hay, B.N.1
-
35
-
-
0031920159
-
Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries
-
9538313 1:STN:280:DyaK1c7pvFWitg%3D%3D
-
Hofbeck M, Rauch A, Buheitel G, Leipold G, von der Emde J, Pfeiffer R, Singer H (1998) Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. Heart 79(2):180-185
-
(1998)
Heart
, vol.79
, Issue.2
, pp. 180-185
-
-
Hofbeck, M.1
Rauch, A.2
Buheitel, G.3
Leipold, G.4
Von Der Emde, J.5
Pfeiffer, R.6
Singer, H.7
-
36
-
-
11844264786
-
A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients
-
15653270 10.1016/j.schres.2004.02.008
-
Horowitz A, Shifman S, Rivlin N, Pisanté A, Darvasi A (2005) A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients. Schizophr Res 73(2-3):263-267
-
(2005)
Schizophr Res
, vol.73
, Issue.2-3
, pp. 263-267
-
-
Horowitz, A.1
Shifman, S.2
Rivlin, N.3
Pisanté, A.4
Darvasi, A.5
-
37
-
-
78149428430
-
Rethinking schizophrenia
-
21068826 10.1038/nature09552 1:CAS:528:DC%2BC3cXhsVWjsb%2FP
-
Insel TR (2010) Rethinking schizophrenia. Nature 468(7321):187-193
-
(2010)
Nature
, vol.468
, Issue.7321
, pp. 187-193
-
-
Insel, T.R.1
-
38
-
-
0031765831
-
Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies
-
9835429 10.1007/s004310050959 1:CAS:528:DyaK1cXotVShs7w%3D
-
Iserin L, de Lonlay P, Viot G, Sidi D, Kachaner J, Munnich A, Lyonnet S, Vekemans M, Bonnet D (1998) Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr 157(11):881-884
-
(1998)
Eur J Pediatr
, vol.157
, Issue.11
, pp. 881-884
-
-
Iserin, L.1
De Lonlay, P.2
Viot, G.3
Sidi, D.4
Kachaner, J.5
Munnich, A.6
Lyonnet, S.7
Vekemans, M.8
Bonnet, D.9
-
39
-
-
40549140095
-
Detailed analysis of 22q11.2 with a high density MLPA probe set
-
18033723 10.1002/humu.20640 1:CAS:528:DC%2BD1cXktlahtrY%3D
-
Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS (2008) Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat 29(3):433-440
-
(2008)
Hum Mutat
, vol.29
, Issue.3
, pp. 433-440
-
-
Jalali, G.R.1
Vorstman, J.A.2
Errami, A.3
Vijzelaar, R.4
Biegel, J.5
Shaikh, T.6
Emanuel, B.S.7
-
40
-
-
9744258806
-
The molecular genetics of the 22q11-associated schizophrenia
-
15582150 10.1016/j.molbrainres.2004.09.029 1:CAS:528:DC%2BD2cXhtVCktLvF
-
Karayiorgou M, Gogos JA (2004) The molecular genetics of the 22q11-associated schizophrenia. Brain Res Mol Brain Res 132(2):95-104
-
(2004)
Brain Res Mol Brain Res
, vol.132
, Issue.2
, pp. 95-104
-
-
Karayiorgou, M.1
Gogos, J.A.2
-
41
-
-
0029102665
-
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11
-
7644464 10.1073/pnas.92.17.7612 1:CAS:528:DyaK2MXnsFOnsrs%3D
-
Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK et al (1995) Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci U S A 92(17):7612-7616
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, Issue.17
, pp. 7612-7616
-
-
Karayiorgou, M.1
Morris, M.A.2
Morrow, B.3
Shprintzen, R.J.4
Goldberg, R.5
Borrow, J.6
Gos, A.7
Nestadt, G.8
Wolyniec, P.S.9
Lasseter, V.K.10
-
42
-
-
29544438872
-
Chromosome 22q11 deletions in patients with conotruncal heart defects
-
16132309 10.1007/s00246-004-0775-5 1:STN:280:DC%2BD2MnovFygsA%3D%3D
-
Khositseth A, Tocharoentanaphol C, Khowsathit P, Ruangdaraganon N (2005) Chromosome 22q11 deletions in patients with conotruncal heart defects. Pediatr Cardiol 26(5):570-573
-
(2005)
Pediatr Cardiol
, vol.26
, Issue.5
, pp. 570-573
-
-
Khositseth, A.1
Tocharoentanaphol, C.2
Khowsathit, P.3
Ruangdaraganon, N.4
-
43
-
-
6944229439
-
Detection of 22q11.2 deletion among 139 patients with di George/velocardiofacial syndrome features
-
15523900 1:CAS:528:DC%2BD2cXhtVSjsr7K
-
Kitsiou-Tzeli S et al (2004) Detection of 22q11.2 deletion among 139 patients with Di George/velocardiofacial syndrome features. In Vivo 18(5):603-608
-
(2004)
In Vivo
, vol.18
, Issue.5
, pp. 603-608
-
-
Kitsiou-Tzeli, S.1
-
44
-
-
35348822545
-
Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes
-
17950858 10.1016/S0140-6736(07)61601-8 1:CAS:528:DC%2BD2sXhtF2hu7rM
-
Kobrynski LJ, Sullivan KE (2007) Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370:1443-1452
-
(2007)
Lancet
, vol.370
, pp. 1443-1452
-
-
Kobrynski, L.J.1
Sullivan, K.E.2
-
45
-
-
17144468115
-
Frequent association of 22q11.2 deletion with Tetralogy of Fallot
-
10842294 10.1002/(SICI)1096-8628(20000605)92:4<269: AID-AJMG9>3.0.CO;2-L 1:STN:280:DC%2BD3czgsValsQ%3D%3D
-
Maeda J, Yamagishi H, Matsuoka R, Ishihara J, Tokumura M, Fukushima H, Ueda H, Takahashi E, Yoshiba S, Kojima Y (2000) Frequent association of 22q11.2 deletion with Tetralogy of Fallot. Am J Med Genet 92(4):269-272
-
(2000)
Am J Med Genet
, vol.92
, Issue.4
, pp. 269-272
-
-
Maeda, J.1
Yamagishi, H.2
Matsuoka, R.3
Ishihara, J.4
Tokumura, M.5
Fukushima, H.6
Ueda, H.7
Takahashi, E.8
Yoshiba, S.9
Kojima, Y.10
-
46
-
-
0028019184
-
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
-
7856665 10.1002/ajmg.1320530314 1:STN:280:DyaK2M7mtVSnsg%3D%3D
-
Matsuoka R, Takao A, Kimura M, Imamura S, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K (1994) Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am J Med Genet 53:285-289
-
(1994)
Am J Med Genet
, vol.53
, pp. 285-289
-
-
Matsuoka, R.1
Takao, A.2
Kimura, M.3
Imamura, S.4
Kondo, C.5
Joh-O, K.6
Ikeda, K.7
Nishibatake, M.8
Ando, M.9
Momma, K.10
-
47
-
-
0029148704
-
Autosomal dominant "opitz" GBBB syndrome due to a 22q11.2 deletion
-
8849001 10.1002/ajmg.1320590122 1:STN:280:DyaK287ht1Cgsg%3D%3D
-
McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J (1995) Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 59(1):103-113
-
(1995)
Am J Med Genet
, vol.59
, Issue.1
, pp. 103-113
-
-
McDonald-Mcginn, D.M.1
Driscoll, D.A.2
Bason, L.3
Christensen, K.4
Lynch, D.5
Sullivan, K.6
Canning, D.7
Zavod, W.8
Quinn, N.9
Rome, J.10
-
48
-
-
0033033492
-
The Philadelphia story: The 22q11.2 deletion: Report on 250 patients
-
10191425 1:STN:280:DyaK1M3gslWnuw%3D%3D
-
McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10:11-24
-
(1999)
Genet Couns
, vol.10
, pp. 11-24
-
-
McDonald-Mcginn, D.M.1
Kirschner, R.2
Goldmuntz, E.3
Sullivan, K.4
Eicher, P.5
Gerdes, M.6
Moss, E.7
Solot, C.8
Wang, P.9
Jacobs, I.10
Handler, S.11
Knightly, C.12
Heher, K.13
Wilson, M.14
Ming, J.E.15
Grace, K.16
Driscoll, D.17
Pasquariello, P.18
Randall, P.19
Larossa, D.20
Emanuel, B.S.21
Zackai, E.H.22
more..
-
49
-
-
0031291657
-
The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results; Report on 181 patients
-
10464633 10.1089/gte.1997.1.99 1:STN:280:DyaK1Mzptlyquw%3D%3D
-
McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ 3rd, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH (1997) The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1(2):99-108
-
(1997)
Genet Test
, vol.1
, Issue.2
, pp. 99-108
-
-
McDonald-Mcginn, D.M.1
Larossa, D.2
Goldmuntz, E.3
Sullivan, K.4
Eicher, P.5
Gerdes, M.6
Moss, E.7
Wang, P.8
Solot, C.9
Schultz, P.10
Lynch, D.11
Bingham, P.12
Keenan, G.13
Weinzimer, S.14
Ming, J.E.15
Driscoll, D.16
Clark III, B.J.17
Markowitz, R.18
Cohen, A.19
Moshang, T.20
Pasquariello, P.21
Randall, P.22
Emanuel, B.S.23
Zackai, E.H.24
more..
-
50
-
-
0035746391
-
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
-
11339373 10.1097/00125817-200101000-00006 1:STN:280: DC%2BD3Mris1Kqtg%3D%3D
-
McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH (2001) Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3:23-29
-
(2001)
Genet Med
, vol.3
, pp. 23-29
-
-
McDonald-Mcginn, D.M.1
Tonnesen, M.K.2
Laufer-Cahana, A.3
Finucane, B.4
Driscoll, D.A.5
Emanuel, B.S.6
Zackai, E.H.7
-
51
-
-
0642333838
-
Chromosome 22q11 deletion in patients with ventricular septal defect: Frequency and associated cardiovascular anomalies
-
14654648 10.1542/peds.112.6.e472
-
McElhinney DB, Driscoll DA, Levin ER, Jawad AF, Emanuel BS, Goldmuntz E (2003) Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics 112(6 Pt 1):e472
-
(2003)
Pediatrics
, vol.112
, Issue.6 PART 1
, pp. 472
-
-
McElhinney, D.B.1
Driscoll, D.A.2
Levin, E.R.3
Jawad, A.F.4
Emanuel, B.S.5
Goldmuntz, E.6
-
52
-
-
0032769144
-
Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)
-
10440825 10.1002/(SICI)1096-8628(19990903)86:1<27: AID-AJMG6>3.0.CO;2-7 1:STN:280:DyaK1MzmvFKisA%3D%3D
-
McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A (1999) Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet 86(1):27-33
-
(1999)
Am J Med Genet
, vol.86
, Issue.1
, pp. 27-33
-
-
McQuade, L.1
Christodoulou, J.2
Budarf, M.3
Sachdev, R.4
Wilson, M.5
Emanuel, B.6
Colley, A.7
-
53
-
-
0029665182
-
The search for hemizygosity at 22qll in patients with isolated cleft palate
-
8773902 1:STN:280:DyaK28zmvF2lsQ%3D%3D
-
Mingarelli R et al (1996) The search for hemizygosity at 22qll in patients with isolated cleft palate. J Craniofac Genet Dev Biol 16(2):118-121
-
(1996)
J Craniofac Genet Dev Biol
, vol.16
, Issue.2
, pp. 118-121
-
-
Mingarelli, R.1
-
54
-
-
77952328830
-
Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome
-
20494672 10.1016/j.amjcard.2010.01.333 1:CAS:528:DC%2BC3cXmsVSnsLY%3D
-
Momma K (2010) Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 105(11):1617-1624
-
(2010)
Am J Cardiol
, vol.105
, Issue.11
, pp. 1617-1624
-
-
Momma, K.1
-
55
-
-
0030058764
-
Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion
-
8522695 10.1016/0735-1097(95)00415-7 1:STN:280:DyaK287itFWjug%3D%3D
-
Momma K, Kondo C, Matsuoka R (1996) Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion. J Am Coll Cardiol 27(1):198-202
-
(1996)
J Am Coll Cardiol
, vol.27
, Issue.1
, pp. 198-202
-
-
Momma, K.1
Kondo, C.2
Matsuoka, R.3
-
56
-
-
0033050757
-
Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22)
-
9986884 10.1007/s002469900414 1:STN:280:DyaK1M7ktleisA%3D%3D
-
Momma K, Matsuoka R, Takao A (1999) Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22). Pediatr Cardiol 20(2):97-102
-
(1999)
Pediatr Cardiol
, vol.20
, Issue.2
, pp. 97-102
-
-
Momma, K.1
Matsuoka, R.2
Takao, A.3
-
57
-
-
33846221511
-
Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome
-
17214538 10.1597/05-192
-
Oh AK, Workman LA, Wong GB (2007) Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome. Cleft Palate Craniofac J 44(1):62-66
-
(2007)
Cleft Palate Craniofac J
, vol.44
, Issue.1
, pp. 62-66
-
-
Oh, A.K.1
Workman, L.A.2
Wong, G.B.3
-
58
-
-
17644421861
-
Presenting phenotype in 100 children with the 22q11 deletion syndrome
-
15565286 10.1007/s00431-004-1577-8
-
Oskarsdóttir S, Persson C, Eriksson BO, Fasth A (2005) Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 164(3):146-153
-
(2005)
Eur J Pediatr
, vol.164
, Issue.3
, pp. 146-153
-
-
Oskarsdóttir, S.1
Persson, C.2
Eriksson, B.O.3
Fasth, A.4
-
59
-
-
42149193191
-
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes
-
18414210 10.1097/GIM.0b013e31816b64c2
-
Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A (2008) Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10(4):267-277
-
(2008)
Genet Med
, vol.10
, Issue.4
, pp. 267-277
-
-
Ou, Z.1
Berg, J.S.2
Yonath, H.3
Enciso, V.B.4
Miller, D.T.5
Picker, J.6
Lenzi, T.7
Keegan, C.E.8
Sutton, V.R.9
Belmont, J.10
Chinault, A.C.11
Lupski, J.R.12
Cheung, S.W.13
Roeder, E.14
Patel, A.15
-
60
-
-
0036889598
-
Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)
-
12436034 10.1097/00008480-200212000-00005
-
Perez E, Sullivan KE (2002) Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr 14(6):678-683
-
(2002)
Curr Opin Pediatr
, vol.14
, Issue.6
, pp. 678-683
-
-
Perez, E.1
Sullivan, K.E.2
-
61
-
-
67349189512
-
Microduplication 22q11.2: A new chromosomal syndrome
-
19254783 10.1016/j.ejmg.2009.02.008
-
Portnoï MF (2009) Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet 52(2-3):88-93
-
(2009)
Eur J Med Genet
, vol.52
, Issue.2-3
, pp. 88-93
-
-
Portnoï, M.F.1
-
62
-
-
0037340103
-
Is isolated palatal anomaly an indication to screen for 22q11 region deletion?
-
12605524 10.1597/1545-1569(2003)040<0176:IIPAAI>2.0.CO;2
-
Reish O, Finkelstein Y, Mesterman R, Nachmani A, Wolach B, Fejgin M, Amiel A (2003) Is isolated palatal anomaly an indication to screen for 22q11 region deletion? Cleft Palate Craniofac J 40(2):176-179
-
(2003)
Cleft Palate Craniofac J
, vol.40
, Issue.2
, pp. 176-179
-
-
Reish, O.1
Finkelstein, Y.2
Mesterman, R.3
Nachmani, A.4
Wolach, B.5
Fejgin, M.6
Amiel, A.7
-
63
-
-
0042914406
-
No justification of routine screening for 22q11 deletions in patients with overt cleft palate
-
12919136 10.1034/j.1399-0004.2003.00134.x 1:STN:280: DC%2BD3svjslKnsQ%3D%3D
-
Ruiter EM, Bongers EM, Smeets DF, Kuijpers-Jagtman AM, Hamel BC (2003) No justification of routine screening for 22q11 deletions in patients with overt cleft palate. Clin Genet 64(3):216-219
-
(2003)
Clin Genet
, vol.64
, Issue.3
, pp. 216-219
-
-
Ruiter, E.M.1
Bongers, E.M.2
Smeets, D.F.3
Kuijpers-Jagtman, A.M.4
Hamel, B.C.5
-
64
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
9350810 10.1136/jmg.34.10.798 1:STN:280:DyaK1c%2FhtVaqsQ%3D%3D
-
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler 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, Brøndum-Nielsen K, Scambler PJ et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34(10):798-804
-
(1997)
J Med Genet
, vol.34
, Issue.10
, 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
Oechsler, 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
Brøndum-Nielsen, K.24
Scambler, P.J.25
more..
-
65
-
-
34547923174
-
Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2
-
17426930 10.1007/s11010-007-9450-5 1:CAS:528:DC%2BD2sXoslGhsr0%3D
-
Sandrin-Garcia P, Abramides DV, Martelli LR, Ramos ES, Richieri-Costa A, Passos GA (2007) Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Mol Cell Biochem 303(1-2):9-17
-
(2007)
Mol Cell Biochem
, vol.303
, Issue.1-2
, pp. 9-17
-
-
Sandrin-Garcia, P.1
Abramides, D.V.2
Martelli, L.R.3
Ramos, E.S.4
Richieri-Costa, A.5
Passos, G.A.6
-
66
-
-
34247098816
-
Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
-
10.1590/S1415-47572007000100006
-
Sandrin-Garcia P, Richieri-Costa A, Tajara EH, Carvalho-Salles AB, Fett-Conte AC (2007) Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies. Genet Mol Biol 30(1):21-24
-
(2007)
Genet Mol Biol
, vol.30
, Issue.1
, pp. 21-24
-
-
Sandrin-Garcia, P.1
Richieri-Costa, A.2
Tajara, E.H.3
Carvalho-Salles, A.B.4
Fett-Conte, A.C.5
-
67
-
-
0025796855
-
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
-
2045103 10.1016/0888-7543(91)90501-5 1:CAS:528:DyaK3MXksVeitL0%3D
-
Scambler PJ, Carey AH, Wyse RK, Roach S, Dumanski JP, Nordenskjold M, Williamson R (1991) Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 10(1):201-206
-
(1991)
Genomics
, vol.10
, Issue.1
, pp. 201-206
-
-
Scambler, P.J.1
Carey, A.H.2
Wyse, R.K.3
Roach, S.4
Dumanski, J.P.5
Nordenskjold, M.6
Williamson, R.7
-
68
-
-
0017821181
-
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
-
1:STN:280:DyaE1c7gsFOiug%3D%3D
-
Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate Craniofac J 15:56-62
-
(1978)
Cleft Palate Craniofac J
, vol.15
, pp. 56-62
-
-
Shprintzen, R.J.1
Goldberg, R.B.2
Lewin, M.L.3
Sidoti, E.J.4
Berkman, M.D.5
Argamaso, R.V.6
Young, D.7
-
69
-
-
28044450587
-
Velo-cardio-facial syndrome
-
16282778 10.1097/01.mop.0000184465.73833.0b
-
Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W (2005) Velo-cardio-facial syndrome. Curr Opin Pediatr 17(6):725-730
-
(2005)
Curr Opin Pediatr
, vol.17
, Issue.6
, pp. 725-730
-
-
Shprintzen, R.J.1
Higgins, A.M.2
Antshel, K.3
Fremont, W.4
Roizen, N.5
Kates, W.6
-
70
-
-
84867801536
-
Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1characterized by high resolution arrays in a boy with congenital malformations and aniridia
-
1:CAS:528:DC%2BC38XhsFCjs7%2FM
-
Simioni M, Vieira TP, Sgardioli IC, Freitas EL, Rosenberg C, Maurer-Morelli CV, Lopes-Cendes I, Fett-Conte AC, Gil-da-Silva-Lopes VL (2012) Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1characterized by high resolution arrays in a boy with congenital malformations and aniridia. Am J Med Genet A 158(11):2905-2910
-
(2012)
Am J Med Genet A
, vol.158
, Issue.11
, pp. 2905-2910
-
-
Simioni, M.1
Vieira, T.P.2
Sgardioli, I.C.3
Freitas, E.L.4
Rosenberg, C.5
Maurer-Morelli, C.V.6
Lopes-Cendes, I.7
Fett-Conte, A.C.8
Gil-Da-Silva-Lopes, V.L.9
-
71
-
-
33845966776
-
Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate
-
17163526
-
Sivertsen A, Lie RT, Wilcox AJ, Abyholm F, Vindenes H, Haukanes BI, Houge G (2007) Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. Am J Med Genet A 143(2):129-134
-
(2007)
Am J Med Genet A
, vol.143
, Issue.2
, pp. 129-134
-
-
Sivertsen, A.1
Lie, R.T.2
Wilcox, A.J.3
Abyholm, F.4
Vindenes, H.5
Haukanes, B.I.6
Houge, G.7
-
72
-
-
11144354655
-
22q11 deletion syndrome in childhood onset schizophrenia: An update
-
14699434 10.1038/sj.mp.4001477 1:CAS:528:DC%2BD2cXhvFCmsbg%3D
-
Sporn A, Addington A, Reiss AL et al (2004) 22q11 deletion syndrome in childhood onset schizophrenia: an update. Mol Psychiatry 9:225-226
-
(2004)
Mol Psychiatry
, vol.9
, pp. 225-226
-
-
Sporn, A.1
Addington, A.2
Reiss, A.L.3
-
73
-
-
0032753685
-
Psychiatric inpatients and chromosome deletions within 22q11.2
-
10567504 10.1136/jnnp.67.6.803 1:STN:280:DC%2BD3c%2Fjs1OgtA%3D%3D
-
Sugama S, Namihira T, Matsuoka R, Taira N, Eto Y, Maekawa K (1999) Psychiatric inpatients and chromosome deletions within 22q11.2. J Neurol Neurosurg Psychiatry 67(6):803-806
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.67
, Issue.6
, pp. 803-806
-
-
Sugama, S.1
Namihira, T.2
Matsuoka, R.3
Taira, N.4
Eto, Y.5
Maekawa, K.6
-
74
-
-
0031009068
-
Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS
-
9192263 10.1136/jmg.34.6.453 1:STN:280:DyaK2szjsFGqtQ%3D%3D
-
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(6):453-458
-
(1997)
J Med Genet
, vol.34
, Issue.6
, 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
-
75
-
-
0033652602
-
Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications
-
11180220 10.1002/1096-8628(200022)97:2<128: AID-AJMG4>3.0.CO;2-Z 1:STN:280:DC%2BD3MzmslSnsQ%3D%3D
-
Swillen A, Vogels A, Devriendt K, Fryns JP (2000) Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am J Med Genet 97(2):128-135
-
(2000)
Am J Med Genet
, vol.97
, Issue.2
, pp. 128-135
-
-
Swillen, A.1
Vogels, A.2
Devriendt, K.3
Fryns, J.P.4
-
76
-
-
0028843726
-
Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective study
-
8582397 10.1007/BF01957496 1:STN:280:DyaK287kvF2juw%3D%3D
-
Takahashi K, Kido S, Hoshino K, Ogawa K, Ohashi H, Fukushima Y (1995) Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study. Eur J Pediatr 154(11):878-881
-
(1995)
Eur J Pediatr
, vol.154
, Issue.11
, pp. 878-881
-
-
Takahashi, K.1
Kido, S.2
Hoshino, K.3
Ogawa, K.4
Ohashi, H.5
Fukushima, Y.6
-
77
-
-
0038697384
-
Hypoparathyroidism and 22q11 deletion syndrome
-
12765920 10.1136/adc.88.6.520 1:STN:280:DC%2BD3s3ktlahtw%3D%3D
-
Taylor SC, Morris G, Wilson D, Davies SJ, Gregory JW (2003) Hypoparathyroidism and 22q11 deletion syndrome. Arch Dis Child 88(6):520-522
-
(2003)
Arch Dis Child
, vol.88
, Issue.6
, pp. 520-522
-
-
Taylor, S.C.1
Morris, G.2
Wilson, D.3
Davies, S.J.4
Gregory, J.W.5
-
78
-
-
0032747017
-
Towards earlier diagnosis of 22q11 deletions
-
10569971 10.1136/adc.81.6.513 1:STN:280:DC%2BD3c%2FjvFymtQ%3D%3D
-
Tobias ES, Morrison N, Whiteford ML, Tolmie JL (1999) Towards earlier diagnosis of 22q11 deletions. Arch Dis Child 81(6):513-514
-
(1999)
Arch Dis Child
, vol.81
, Issue.6
, pp. 513-514
-
-
Tobias, E.S.1
Morrison, N.2
Whiteford, M.L.3
Tolmie, J.L.4
-
79
-
-
0032718167
-
Velocardiofacial syndrome in childhood-onset schizophrenia
-
10596254 10.1097/00004583-199912000-00015 1:STN:280: DC%2BD3c%2FmsVSmsw%3D%3D
-
Usiskin SI et al (1999) Velocardiofacial syndrome in childhood-onset schizophrenia. J Am Acad Child Adolesc Psychiatry 38(12):1536-1543
-
(1999)
J Am Acad Child Adolesc Psychiatry
, vol.38
, Issue.12
, pp. 1536-1543
-
-
Usiskin, S.I.1
-
80
-
-
3342979548
-
Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients
-
15274032 10.1002/ajmg.b.20168 1:STN:280:DC%2BD2czntVagsg%3D%3D
-
Wiehahn GJ, Bosch GP, du Preez RR, Pretorius HW, Karayiorgou M, Roos JL (2004) Assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenic patients. Am J Med Genet B Neuropsychiatr Genet 129B(1):20-22
-
(2004)
Am J Med Genet B Neuropsychiatr Genet
, vol.129
, Issue.1
, pp. 20-22
-
-
Wiehahn, G.J.1
Bosch, G.P.2
Du Preez, R.R.3
Pretorius, H.W.4
Karayiorgou, M.5
Roos, J.L.6
-
81
-
-
0032998472
-
Chromosome 22q11 microdeletion and congenital heart disease - A survey in a paediatric population
-
10412816 10.1007/s004310051148 1:STN:280:DyaK1MzjvFWlsw%3D%3D
-
Yong DE, Booth P, Baruni J, Massie D, Stephen G, Couzin D, Dean JC (1999) Chromosome 22q11 microdeletion and congenital heart disease - a survey in a paediatric population. Eur J Pediatr 158(7):566-570
-
(1999)
Eur J Pediatr
, vol.158
, Issue.7
, pp. 566-570
-
-
Yong, D.E.1
Booth, P.2
Baruni, J.3
Massie, D.4
Stephen, G.5
Couzin, D.6
Dean, J.C.7
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