-
1
-
-
0031671548
-
A population study of chromosome 22q11 deletions in infancy
-
J. Goodship, I. Cross, J. LiLing, and C. Wren A population study of chromosome 22q11 deletions in infancy Arch Dis Child 79 1998 348 351 (Pubitemid 28436089)
-
(1998)
Archives of Disease in Childhood
, vol.79
, Issue.4
, pp. 348-351
-
-
Goodship, J.1
Cross, I.2
Liling, J.3
Wren, C.4
-
2
-
-
0029783493
-
Prevalence of 22q11 microdeletion
-
S.T. Tezenas Du Montcel, H. Mendizabal, S. Ayme, A. Levy, and N. Philip Prevalence of 22q11 microdeletion J Med Genet 33 1996 719
-
(1996)
J Med Genet
, vol.33
, pp. 719
-
-
Tezenas Du Montcel, S.T.1
Mendizabal, H.2
Ayme, S.3
Levy, A.4
Philip, N.5
-
3
-
-
0842327784
-
Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden
-
DOI 10.1136/adc.2003.026880
-
S. Oskarsdottir, M. Vujic, and A. Fasth Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden Arch Dis Child 89 2004 148 151 (Pubitemid 38168974)
-
(2004)
Archives of Disease in Childhood
, vol.89
, Issue.2
, pp. 148-151
-
-
Oskarsdottir, S.1
Vujic, M.2
Fasth, A.3
-
5
-
-
77953299828
-
International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies
-
G. Cocchi, S. Gualdi, C. Bower, J. Halliday, B. Jonsson, and A. Myrelid International trends of Down syndrome 1993-2004: births in relation to maternal age and terminations of pregnancies Birth Defects Res A Clin Mol Teratol 88 2010 474 479
-
(2010)
Birth Defects Res A Clin Mol Teratol
, vol.88
, pp. 474-479
-
-
Cocchi, G.1
Gualdi, S.2
Bower, C.3
Halliday, J.4
Jonsson, B.5
Myrelid, A.6
-
6
-
-
33749465589
-
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
-
DOI 10.1002/ajmg.a.31416
-
A. Rauch, J. Hoyer, S. Guth, C. Zweier, C. Kraus, and C. Becker Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation Am J Med Genet A 140A 2006 2063 2074 (Pubitemid 44522453)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.19
, pp. 2063-2074
-
-
Rauch, A.1
Hoyer, J.2
Guth, S.3
Zweier, C.4
Kraus, C.5
Becker, C.6
Zenker, M.7
Huffmeier, U.8
Thiel, C.9
Ruschendorf, F.10
Nurnberg, P.11
Reis, A.12
Trautmann, U.13
-
7
-
-
0027442395
-
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects
-
E. Goldmuntz, D.A. Driscoll, M.L. Budarf, E.H. Zackai, D.M. McDonald-McGinn, and J.A. Biegel Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects J Med Genet 30 1993 807 812 (Pubitemid 23299916)
-
(1993)
Journal of Medical Genetics
, vol.30
, Issue.10
, 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
-
8
-
-
44149094257
-
Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome
-
DOI 10.1002/ddrr.6
-
A. Carotti, M.C. Digilio, G. Piacentini, C. Saffirio, R.M. Di Donato, and B. Marino Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome Dev Disabil Res Rev 14 2008 35 42 (Pubitemid 351716521)
-
(2008)
Developmental Disabilities Research Reviews
, 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
-
9
-
-
0019511103
-
A deletion in chromosome 22 can cause DiGeorge syndrome
-
A. de la Chapelle, R. Herva, M. Koivisto, and P. Aula A deletion in chromosome 22 can cause DiGeorge Syndrome Hum Genet 57 1981 253 256 (Pubitemid 11121071)
-
(1981)
Human Genetics
, vol.57
, Issue.3
, pp. 253-256
-
-
De La Chapelle, A.1
Herva, R.2
Koivisto, M.3
Aula, P.4
-
10
-
-
0020026258
-
The association of the DiGeorge anomalad with partial monosomy of chromosome 22
-
DOI 10.1016/S0022-3476(82)80116-9
-
R.I. Kelley, E.H. Zackai, B.S. Emanuel, M. Kistenmacher, F. Greenberg, and H.H. Punnett The association of the DiGeorge anomalad with partial monosomy of chromosome 22 J Pediatrics 101 1982 197 200 (Pubitemid 12098766)
-
(1982)
Journal of Pediatrics
, vol.101
, Issue.2
, pp. 197-200
-
-
Kelly, R.I.1
Zackai, E.H.2
Emanuel, B.S.3
-
11
-
-
0025796855
-
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
-
P.J. Scambler, A.H. Carey, R.K.H. Wyse, S. Roach, J.P. Dumanski, and M. Nordenskjold Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome Genomics 10 1991 201 206
-
(1991)
Genomics
, vol.10
, pp. 201-206
-
-
Scambler, P.J.1
Carey, A.H.2
Wyse, R.K.H.3
Roach, S.4
Dumanski, J.P.5
Nordenskjold, M.6
-
12
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
-
D.A. Driscoll, J. Salvin, B. Sellinger, M.L. Budarf, D.M. McDonald-McGinn, and E.H. Zackai Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis J Med Genet 30 1993 813 817 (Pubitemid 23299917)
-
(1993)
Journal of Medical Genetics
, 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
-
13
-
-
0027373693
-
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
-
J. Burn, A. Takao, D. Wilson, I. Cross, K. Momma, and R. Wadey Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11 J Med Genet 30 1993 822 824 (Pubitemid 23299919)
-
(1993)
Journal of Medical Genetics
, vol.30
, Issue.10
, 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
-
14
-
-
0028019184
-
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
-
DOI 10.1002/ajmg.1320530314
-
R. Matsuoka, A. Takao, M. Kimura, S. Imamura, C. Kondo, and K. Joh-o Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2 Am J Med Genet 53 1994 285 289 (Pubitemid 24362425)
-
(1994)
American Journal of Medical Genetics
, vol.53
, Issue.3
, pp. 285-289
-
-
Matsuoka, R.1
Takao, A.2
Kimura, M.3
Imamura, S.-I.4
Kondo, C.5
Joh-o, K.6
Ikeda, K.7
Nishibatake, M.8
Ando, M.9
Momma, K.10
-
15
-
-
0029148704
-
Autosomal dominant "opitz" GBBB syndrome due to a 22q11.2 deletion
-
D.M. McDonald-McGinn, D.A. Driscoll, L. Bason, K. Christensen, D. Lynch, and K. Sullivan Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion Am J Med Genet 59 1995 103 113
-
(1995)
Am J Med Genet
, vol.59
, pp. 103-113
-
-
McDonald-Mcginn, D.M.1
Driscoll, D.A.2
Bason, L.3
Christensen, K.4
Lynch, D.5
Sullivan, K.6
-
16
-
-
0027984160
-
-
Giannotti A, Digilio MC, Marino B, Mingarelli R, Dallapiccola B. Cayler cardiofacial syndrome and del 22q11: part of CATCH22 phenotype 1994;53:303-4.
-
(1994)
Cayler Cardiofacial Syndrome and Del 22q11: Part of CATCH22 Phenotype
, vol.53
, pp. 303-304
-
-
Giannotti, A.1
Digilio, M.C.2
Marino, B.3
Mingarelli, R.4
Dallapiccola, B.5
-
17
-
-
33748895740
-
Neurocognitive profile in 22q11 deletion syndrome and schizophrenia
-
DOI 10.1016/j.schres.2006.04.007, PII S0920996406001800
-
E.W.C. Chow, M. Watson, D.A. Young, and A.S. Bassett Neurocognitive profile in 22q11 deletion syndrome and schizophrenia Schizophr Res 87 2006 270 278 (Pubitemid 44428110)
-
(2006)
Schizophrenia Research
, vol.87
, Issue.1-3
, pp. 270-278
-
-
Chow, E.W.C.1
Watson, M.2
Young, D.A.3
Bassett, A.S.4
-
18
-
-
44149120272
-
The neurocognitive phenotype in velo-cardio-facial syndrome: A developmental perspective
-
DOI 10.1002/ddrr.7
-
K.M. Antshel, W. Fremont, and W.R. Kates The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective Dev Disabil Res Rev 14 2008 43 51 (Pubitemid 351716522)
-
(2008)
Developmental Disabilities Research Reviews
, vol.14
, Issue.1
, pp. 43-51
-
-
Antshel, K.M.1
Fremont, W.2
Kates, W.R.3
-
19
-
-
34547922747
-
Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: An update
-
DOI 10.1111/j.1365-2788.2007.00955.x
-
B. De Smedt, K. Devriendt, J.P. Fryns, A. Vogels, M. Gewillig, and A. Swillen Intellectual abilities in a large sample of children with velo-cardio-facial syndrome: an update J Intellect Disabil Res 51 2007 666 670 (Pubitemid 47249742)
-
(2007)
Journal of Intellectual Disability Research
, vol.51
, Issue.9
, pp. 666-670
-
-
De Smedt, B.1
Devriendt, K.2
Fryns, J.-P.3
Vogels, A.4
Gewillig, M.5
Swillen, A.6
-
20
-
-
71149112408
-
Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome
-
T. Green, D. Gothelf, B. Glaser, M. Debbane, A. Frisch, and M. Kotler Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome J Am Acad Child Adolesc Psychiatry 48 2009 1060 1068
-
(2009)
J Am Acad Child Adolesc Psychiatry
, vol.48
, pp. 1060-1068
-
-
Green, T.1
Gothelf, D.2
Glaser, B.3
Debbane, M.4
Frisch, A.5
Kotler, M.6
-
21
-
-
77955401776
-
Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome
-
W.L.A. Fung, R. McEvilly, J. Fong, C. Silversides, E. Chow, and A.S. Bassett Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome Am J Psychiatry 167 2010 998
-
(2010)
Am J Psychiatry
, vol.167
, pp. 998
-
-
Fung, W.L.A.1
McEvilly, R.2
Fong, J.3
Silversides, C.4
Chow, E.5
Bassett, A.S.6
-
22
-
-
42049117507
-
Chromosome 22q11.2 Deletion Syndrome: DiGeorge Syndrome/Velocardiofacial Syndrome
-
DOI 10.1016/j.iac.2008.01.003, PII S0889856108000064
-
K.E. Sullivan Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome Immunol Allergy Clin North Am 28 2008 353 366 (Pubitemid 351522411)
-
(2008)
Immunology and Allergy Clinics of North America
, vol.28
, Issue.2
, pp. 353-366
-
-
Sullivan, K.E.1
-
23
-
-
17644421861
-
Presenting phenotype in 100 children with the 22q11 deletion syndrome
-
DOI 10.1007/s00431-004-1577-8
-
S. Oskarsdottir, C. Persson, B.O. Eriksson, and A. Fasth Presenting phenotype in 100 children with the 22q11 deletion syndrome Eur J Pediatr 164 2005 146 153 (Pubitemid 40558177)
-
(2005)
European Journal of Pediatrics
, vol.164
, Issue.3
, pp. 146-153
-
-
Oskarsdottir, S.1
Persson, C.2
Eriksson, B.O.3
Fasth, A.4
-
24
-
-
0038359152
-
22q11 deletion: A multisystem disorder requiring multidisciplinary input
-
DOI 10.1136/adc.88.6.523
-
K.L. Greenhalgh, I.A. Aligiania, G. Bromilow, H. Cox, Y. Stait, and B.J. Leech 22q11 deletion: a multisystem disorder requiring multidisciplinary input Arch Dis Child 88 2003 523 524 (Pubitemid 36648946)
-
(2003)
Archives of Disease in Childhood
, vol.88
, Issue.6
, pp. 523-524
-
-
Greenhalgh, K.L.1
Aligianis, I.A.2
Bromilow, G.3
Cox, H.4
Hill, C.5
Stait, Y.6
Leech, B.J.7
Lunt, P.W.8
Ellis, M.9
-
25
-
-
39749127846
-
Recognizing a common genetic syndrome: 22q11.2 deletion syndrome
-
DOI 10.1503/cmaj.071300
-
R. Kapadia, and A.S. Bassett Recognizing a common genetic syndrome: 22q11.2 deletion syndrome Can Med Assoc J 178 2008 391 393 (Pubitemid 351303277)
-
(2008)
Canadian Medical Association Journal
, vol.178
, Issue.4
, pp. 391-393
-
-
Kapadia, R.K.1
Bassett, A.S.2
-
26
-
-
0033033492
-
The Philadelphia story: The 22q11.2 deletion: Report on 250 patients
-
D.M. McDonald-McGinn, R.E. Kirschner, E. Goldmuntz, K. Sullivan, P. Eicher, and M. Gerdes The Philadelphia story: the 22q11.2 deletion: report on 250 patients Genet Couns 10 1999 11 24 (Pubitemid 29121796)
-
(1999)
Genetic Counseling
, vol.10
, Issue.1
, 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..
-
27
-
-
44149093809
-
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
-
DOI 10.1002/ddrr.3
-
B.S. Emanuel Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements Dev Disabil Res Rev 14 2008 11 18 (Pubitemid 351716518)
-
(2008)
Developmental Disabilities Research Reviews
, vol.14
, Issue.1
, pp. 11-18
-
-
Emanuel, B.S.1
-
28
-
-
57049132697
-
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
-
DOI 10.1093/hmg/ddn307
-
A.S. Bassett, C.R. Marshall, A.C. Lionel, E.W.C. Chow, and S.W. Scherer Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome Hum Mol Genet 17 2008 4045 4053 (Pubitemid 352762863)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.24
, pp. 4045-4053
-
-
Bassett, A.S.1
Marshall, C.R.2
Lionel, A.C.3
Chow, E.W.C.4
Scherer, S.W.5
-
29
-
-
0033380870
-
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome
-
F. Amati, E. Conti, A. Novelli, M. Bengala, M.C. Digilio, and B. Marino Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome Eur J Hum Genet 7 1999 903 909 (Pubitemid 30032297)
-
(1999)
European Journal of Human Genetics
, vol.7
, Issue.8
, pp. 903-909
-
-
Amati, F.1
Conti, E.2
Novelli, A.3
Bengala, M.4
Digilio, M.C.5
Marino, B.6
Giannotti, A.7
Gabrielli, O.8
Novelli, G.9
Dallapiccola, B.10
-
30
-
-
77952032690
-
Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
D.T. Miller, M.P. Adam, S. Aradhya, L.G. Biesecker, A.R. Brothman, and N.P. Carter Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 86 2010 749 764
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
Biesecker, L.G.4
Brothman, A.R.5
Carter, N.P.6
-
31
-
-
0033358588
-
Low-copy repeats mediate the common 3-Mb deletion in patients with velo- cardio-facial syndrome
-
DOI 10.1086/302343
-
L. Edelmann, R.K. Pandita, and B.E. Morrow Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome Am J Hum Genet 64 1999 1076 1086 (Pubitemid 30463039)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.4
, pp. 1076-1086
-
-
Edelmann, L.1
Pandita, R.K.2
Morrow, B.E.3
-
32
-
-
0034161932
-
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis
-
T. Shaikh, H. Kurahashi, S.C. Saitta, A.M. O'Hare, P. Hu, and B.A. Roe Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis Hum Mol Genet 9 2000 489 501 (Pubitemid 30154007)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.4
, pp. 489-501
-
-
Shaikh, T.H.1
Kurahashi, H.2
Saitta, S.C.3
O'Hare, A.M.4
Hu, P.5
Roe, B.A.6
Driscoll, D.A.7
McDonald-McGinn, D.M.8
Zackai, E.H.9
Budarf, M.L.10
Emanuel, B.S.11
-
33
-
-
2942709617
-
Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion
-
A. Baumer, M. Riegel, and A. Schinzel Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion J Med Genet 41 2004 413 420 (Pubitemid 38788035)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.6
, pp. 413-420
-
-
Baumer, A.1
Riegel, M.2
Schinzel, A.3
-
34
-
-
0035746391
-
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
-
D.M. McDonald-McGinn, M.K. Tonnesen, A. Laufer-Cahana, B. Finucane, D.A. Driscoll, and B.S. Emanuel Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3 2001 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
-
35
-
-
27444447025
-
Clinical features of 78 adults with 22q11 deletion syndrome
-
DOI 10.1002/ajmg.a.30984
-
A.S. Bassett, E.W.C. Chow, J. Husted, R. Weksberg, O. Caluseriu, and G.D. Webb Clinical features of 78 adults with 22q11 deletion syndrome Am J Med Genet A 138 2005 307 313 (Pubitemid 41532946)
-
(2005)
American Journal of Medical Genetics
, vol.138 A
, Issue.4
, pp. 307-313
-
-
Bassett, A.S.1
Chow, E.W.C.2
Husted, J.3
Weksberg, R.4
Caluseriu, O.5
Webb, G.D.6
Gatzoulis, M.A.7
-
36
-
-
0032871644
-
Phenotype of adults with the 22q11 deletion syndrome: A review
-
DOI 10.1002/(SICI)1096-8628(19991008)86:4<359::AID-AJMG10>3.0.CO;2- V
-
E. Cohen, E.W.C. Chow, R. Weksberg, and A.S. Bassett The phenotype of adults with the 22q11 deletion syndrome: a review Am J Med Genet 86 1999 359 365 (Pubitemid 29461498)
-
(1999)
American Journal of Medical Genetics
, vol.86
, Issue.4
, pp. 359-365
-
-
Cohen, E.1
Chow, E.W.C.2
Weksberg, R.3
Bassett, A.S.4
-
37
-
-
49649124127
-
Schizophrenia and 22q11.2 deletion syndrome
-
A.S. Bassett, and E.W.C. Chow Schizophrenia and 22q11.2 deletion syndrome Curr Psychiatry Rep 10 2008 148 157
-
(2008)
Curr Psychiatry Rep
, vol.10
, pp. 148-157
-
-
Bassett, A.S.1
Chow, E.W.C.2
-
38
-
-
67651244951
-
Evidence-based medicine and practice guidelines: Application to genetics
-
H.V. Toriello, and P. Goldenberg Evidence-based medicine and practice guidelines: application to genetics Am J Med Genet C 151C 2009 235 240
-
(2009)
Am J Med Genet C
, vol.151 C
, pp. 235-240
-
-
Toriello, H.V.1
Goldenberg, P.2
-
39
-
-
0029952699
-
Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome
-
DOI 10.1016/S0002-9149(97)89165-5
-
M.W. Consevage, J.R. Seip, D.A. Belchis, A.T. Davis, B.G. Baylen, and P.K. Rogan Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome Am J Cardiol 77 1996 1023 1025 (Pubitemid 26161838)
-
(1996)
American Journal of Cardiology
, vol.77
, Issue.11
, pp. 1023-1025
-
-
Consevage, M.W.1
Seip, J.R.2
Belchis, D.A.3
Davis, A.T.4
Baylen, B.G.5
Rogan, P.K.6
-
40
-
-
0032581132
-
Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11
-
DOI 10.1002/(SICI)1096-8628(19980630)78:2<103::AID-AJMG1>3.0.CO;2-P
-
E. Hatchwell, F. Long, J. Wilde, J. Crolla, and K. Temple Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11 Am J Med Genet 73 1998 103 106 (Pubitemid 28298464)
-
(1998)
American Journal of Medical Genetics
, vol.78
, Issue.2
, pp. 103-106
-
-
Hatchwell, E.1
Long, F.2
Wilde, J.3
Crolla, J.4
Temple, K.5
-
41
-
-
0036590315
-
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome
-
DOI 10.1034/j.1399-0004.2002.610511.x
-
P. Sandrin-Garcia, C. Macedo, L.R. Martelli, E.S. Ramos, M.L. Guion-Almeida, and A. Richieri-Costa Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome Clin Genet 61 2002 380 383 (Pubitemid 36372670)
-
(2002)
Clinical Genetics
, vol.61
, Issue.5
, pp. 380-383
-
-
Sandrin-Garcia, P.1
Macedo, C.2
Martelli, L.R.3
Ramos, E.S.4
Guion-Almeida, M.L.5
Richieri-Costa, A.6
Passos, G.A.S.7
-
42
-
-
66249135663
-
Premature death in adults with 22q11.2 deletion syndrome
-
A.S. Bassett, E.W.C. Chow, J. Husted, K.A. Hodgkinson, E. Oechslin, and L. Harris Premature death in adults with 22q11.2 deletion syndrome J Med Genet 46 2009 324 330
-
(2009)
J Med Genet
, vol.46
, pp. 324-330
-
-
Bassett, A.S.1
Chow, E.W.C.2
Husted, J.3
Hodgkinson, K.A.4
Oechslin, E.5
Harris, L.6
|