-
1
-
-
0033753819
-
The 22q11 deletion syndromes
-
Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet 2000;9:2421-6.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2421-2426
-
-
Scambler, P.J.1
-
2
-
-
0033033492
-
The Philadelphia story: the 22q11.2 deletion: report on 250 patients
-
McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999;10:11-24.
-
(1999)
Genet Couns
, vol.10
, pp. 11-24
-
-
McDonald-McGinn, D.M.1
Kirschner, R.2
Goldmuntz, E.3
-
3
-
-
0032177986
-
Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome)
-
Wang PP, Solot C, Moss EM, et al. Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome). J Dev Behav Pediatr 1998;19:342-5.
-
(1998)
J Dev Behav Pediatr
, vol.19
, pp. 342-345
-
-
Wang, P.P.1
Solot, C.2
Moss, E.M.3
-
4
-
-
24044515278
-
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome
-
Fine SE, Weissman A, Gerdes M, et al. Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord 2005;35:461-70.
-
(2005)
J Autism Dev Disord
, vol.35
, pp. 461-470
-
-
Fine, S.E.1
Weissman, A.2
Gerdes, M.3
-
5
-
-
49649124127
-
Schizophrenia and 22q11.2 deletion syndrome
-
Bassett AS, Chow EW. Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep 2008;10:148-57.
-
(2008)
Curr Psychiatry Rep
, vol.10
, pp. 148-157
-
-
Bassett, A.S.1
Chow, E.W.2
-
6
-
-
0035746683
-
Prenatal diagnosis of the 22q11.2 deletion syndrome
-
Driscoll DA. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med 2001;3:14-8.
-
(2001)
Genet Med
, vol.3
, pp. 14-18
-
-
Driscoll, D.A.1
-
7
-
-
10044283962
-
Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects
-
Moore JW, Binder GA, Berry R. Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects. Am J Obstet Gynecol 2004;191:2068-73.
-
(2004)
Am J Obstet Gynecol
, vol.191
, pp. 2068-2073
-
-
Moore, J.W.1
Binder, G.A.2
Berry, R.3
-
8
-
-
78349311628
-
Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome
-
Bretelle F, Beyer L, Pellissier MC, et al. Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome. Eur J Med Genet 2010;53:367-70.
-
(2010)
Eur J Med Genet
, vol.53
, pp. 367-370
-
-
Bretelle, F.1
Beyer, L.2
Pellissier, M.C.3
-
9
-
-
0036906192
-
Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects
-
Chaoui R, Kalache KD, Heling KS, et al. Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects. Ultrasound Obstet Gynecol 2002;20:546-52.
-
(2002)
Ultrasound Obstet Gynecol
, vol.20
, pp. 546-552
-
-
Chaoui, R.1
Kalache, K.D.2
Heling, K.S.3
-
10
-
-
0033358588
-
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
-
Edelmann L, Pandita RK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 1999;64:1076-86.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1076-1086
-
-
Edelmann, L.1
Pandita, R.K.2
Morrow, B.E.3
-
11
-
-
84870985438
-
Genotype-phenotype correlation in 22q11.2 deletion syndrome
-
Michaelovsky E, Frisch A, Carmel M, et al. Genotype-phenotype correlation in 22q11.2 deletion syndrome. BMC Med Genet 2012;3:122.
-
(2012)
BMC Med Genet
, vol.3
, pp. 122
-
-
Michaelovsky, E.1
Frisch, A.2
Carmel, M.3
-
12
-
-
80052260252
-
A copy number variation morbidity map of developmental delay
-
Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011;43:838-46.
-
(2011)
Nat Genet
, vol.43
, pp. 838-846
-
-
Cooper, G.M.1
Coe, B.P.2
Girirajan, S.3
-
13
-
-
56649099144
-
Clinical variability of the 22q11.2 duplication syndrome
-
Wentzel C, Fernstrom M, Ohrner Y, et al. Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet 2008;51:501-10.
-
(2008)
Eur J Med Genet
, vol.51
, pp. 501-510
-
-
Wentzel, C.1
Fernstrom, M.2
Ohrner, Y.3
-
14
-
-
84876416890
-
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes
-
Delio M, Guo T, McDonald-McGinn DM, et al. Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet 2013;92:439-47.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 439-447
-
-
Delio, M.1
Guo, T.2
McDonald-McGinn, D.M.3
-
15
-
-
84866504304
-
Phenotypic variability of atypical 22q11.2 deletions not including TBX1
-
Verhagen JM, Diderich KE, Oudesluijs G, et al. Phenotypic variability of atypical 22q11.2 deletions not including TBX1. Am J Med Genet A 2012;158A:2412-20.
-
(2012)
Am J Med Genet A
, pp. 2412-2420
-
-
Verhagen, J.M.1
Diderich, K.E.2
Oudesluijs, G.3
-
16
-
-
0033362101
-
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge syndrome/velocardiofacial syndrome without deletions within chromosome 22q11
-
Wadey R, McKie J, Papapetrou C, et al. Mutations of UFD1L are not responsible for the majority of cases of DiGeorge syndrome/velocardiofacial syndrome without deletions within chromosome 22q11. Am J Hum Genet 1999;65:247-9.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 247-249
-
-
Wadey, R.1
McKie, J.2
Papapetrou, C.3
-
17
-
-
0033582626
-
A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
-
Yamagishi H, Garg V, Matsuoka R, et al. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 1999;283:1158-61.
-
(1999)
Science
, vol.283
, pp. 1158-1161
-
-
Yamagishi, H.1
Garg, V.2
Matsuoka, R.3
-
18
-
-
34250305402
-
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics
-
Pierpont ME, Basson CT, Benson DW, Jr, et al. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 2007;115:3015-38.
-
(2007)
Circulation
, vol.115
, pp. 3015-3038
-
-
Pierpont, M.E.1
Basson, C.T.2
Benson Jr., D.W.3
-
19
-
-
84884351899
-
Fetal heart defects: potential and pitfalls of first-trimester detection
-
Khalil A, Nicolaides KH. Fetal heart defects: potential and pitfalls of first-trimester detection. Semin Fetal Neonatal Med 2013; 18(5):251-60.
-
(2013)
Semin Fetal Neonatal Med
, vol.18
, Issue.5
, pp. 251-260
-
-
Khalil, A.1
Nicolaides, K.H.2
-
20
-
-
0035746391
-
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
-
McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 2001;3:23-9.
-
(2001)
Genet Med
, vol.3
, pp. 23-29
-
-
McDonald-McGinn, D.M.1
Tonnesen, M.K.2
Laufer-Cahana, A.3
-
21
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
-
Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34:798-804.
-
(1997)
J Med Genet
, vol.34
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
-
23
-
-
27444447025
-
Clinical features of 78 adults with 22q11 deletion syndrome
-
Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A 2005;138:307-13.
-
(2005)
Am J Med Genet A
, vol.138
, pp. 307-313
-
-
Bassett, A.S.1
Chow, E.W.2
Husted, J.3
-
24
-
-
84855992342
-
Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions
-
Costain G, Chow EW, Silversides CK, Bassett AS. Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions. J Med Genet 2011;48:819-24.
-
(2011)
J Med Genet
, vol.48
, pp. 819-824
-
-
Costain, G.1
Chow, E.W.2
Silversides, C.K.3
Bassett, A.S.4
-
25
-
-
60349086711
-
Sex differences in the behavior of children with the 22q11 deletion syndrome
-
Sobin C, Kiley-Brabeck K, Monk SH, et al. Sex differences in the behavior of children with the 22q11 deletion syndrome. Psychiatry Res 2009;166:24-34.
-
(2009)
Psychiatry Res
, vol.166
, pp. 24-34
-
-
Sobin, C.1
Kiley-Brabeck, K.2
Monk, S.H.3
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