-
1
-
-
0037238794
-
Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion
-
Barrea C, Yoo SJ, Chitayat D, et al. 2003. Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion. Prenat Diagn 23: 9-15.
-
(2003)
Prenat Diagn
, vol.23
, pp. 9-15
-
-
Barrea, C.1
Yoo, S.J.2
Chitayat, D.3
-
2
-
-
0036126081
-
Can we predict 22q11 status of fetuses with tetralogy of Fallot?
-
Boudjemline Y, Fermont L, Le Bidois J, Villain E, Sidi D, Bonnet D. 2002. Can we predict 22q11 status of fetuses with tetralogy of Fallot?. Prenat Diagn 22: 231-234.
-
(2002)
Prenat Diagn
, vol.22
, pp. 231-234
-
-
Boudjemline, Y.1
Fermont, L.2
Le Bidois, J.3
Villain, E.4
Sidi, D.5
Bonnet, D.6
-
3
-
-
0003001927
-
Prenatal assessment of the thymus in detecting fetuses with del.22q
-
Chaoui R, Körner H, Bommer C. 2000. Prenatal assessment of the thymus in detecting fetuses with del.22q. Ultrasound Obstet Gynecol 16: P82.
-
(2000)
Ultrasound Obstet Gynecol
, vol.16
-
-
Chaoui, R.1
Körner, H.2
Bommer, C.3
-
5
-
-
0036906192
-
Absent or hypoplastic thymus on ultrasound: A marker for deletion 22q11.2 in fetal cardiac defects
-
Chaoui R, Kalache KD, Heling KS, Tennstedt C, Bommer C, Körner H. 2002b. Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects. Ultrasound Obstet Gynecol 20: 546-552.
-
(2002)
Ultrasound Obstet Gynecol
, vol.20
, pp. 546-552
-
-
Chaoui, R.1
Kalache, K.D.2
Heling, K.S.3
Tennstedt, C.4
Bommer, C.5
Körner, H.6
-
7
-
-
0029003331
-
Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature
-
Demezuk SLA, Aubry M, Croquette M, et al. 1995. Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. Hum Genet 96: 9-13.
-
(1995)
Hum Genet
, vol.96
, pp. 9-13
-
-
Demezuk, S.L.A.1
Aubry, M.2
Croquette, M.3
-
8
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge and velo-cardio-facial syndromes: Implications for genetic counseling and prenatal diagnosis
-
Driscoll DA, Salvin J, Sellinger B, et al. 1993. Prevalence of 22q11 microdeletions in DiGeorge and velo-cardio-facial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet 30: 813-817.
-
(1993)
J Med Genet
, vol.30
, pp. 813-817
-
-
Driscoll, D.A.1
Salvin, J.2
Sellinger, B.3
-
9
-
-
0033358588
-
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardiofacial syndrome
-
Edelmann L, Pandita RK, Morrow BE. 1999a. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardiofacial syndrome. Am J Hum Genet 64: 1076-1086.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1076-1086
-
-
Edelmann, L.1
Pandita, R.K.2
Morrow, B.E.3
-
10
-
-
0032790898
-
A common molecular basis for rearrangement disorders on chromosome 22q11
-
Edelmann L, Pandita RK, Spiteri E, et al. 1999b. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 8: 1157-1167.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1157-1167
-
-
Edelmann, L.1
Pandita, R.K.2
Spiteri, E.3
-
11
-
-
0035159359
-
AT-rich palindromes mediate the constitutional t(11;22) translocation
-
Edelmann L, Spiteri E, Koren K, et al. 2001. AT-rich palindromes mediate the constitutional t(11;22) translocation. Am J Hum Genet 68: 1-13.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1-13
-
-
Edelmann, L.1
Spiteri, E.2
Koren, K.3
-
12
-
-
0033358603
-
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation
-
Edelmann L, Spiteri E, McCain N, et al. 1999c. A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet 65: 1608-1616.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1608-1616
-
-
Edelmann, L.1
Spiteri, E.2
McCain, N.3
-
13
-
-
0032559315
-
Deletion of 22q11 in two brothers with different phenotype
-
Kasprzak L, Der Kaloustian VM, Elliott AM, Shevell M, Lejtenyi C, Eydoux P. 1998. Deletion of 22q11 in two brothers with different phenotype. 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
Eydoux, P.6
-
16
-
-
0029119431
-
The genetic implication for preceding generations of the prenatal diagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly
-
Puder KS, Humes RA, Gold RL, Bawle EV, Goyert GL. 1995. The genetic implication for preceding generations of the prenatal diagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly. Am J Obstet Gynecol 173: 239-241.
-
(1995)
Am J Obstet Gynecol
, vol.173
, pp. 239-241
-
-
Puder, K.S.1
Humes, R.A.2
Gold, R.L.3
Bawle, E.V.4
Goyert, G.L.5
-
17
-
-
0642284492
-
Gonadal mosaicism for a submicroscopic deletion of chromosome region 22q11
-
Sitch FL, James RS, Cockwell AE, Hatchwell E. 1996. Gonadal mosaicism for a submicroscopic deletion of chromosome region 22q11. Eur J Hum Genet 4(S1): 59.
-
(1996)
Eur J Hum Genet
, vol.4
, Issue.S1
, pp. 59
-
-
Sitch, F.L.1
James, R.S.2
Cockwell, A.E.3
Hatchwell, E.4
-
18
-
-
0029120542
-
Recurrence of DiGeorge syndrome: Prenatal detection by FISH of a molecular 22q11 deletion
-
Van Hemel JO, Schaap C, Van Opstal D, Mulder MP, Niermeijer MF, Meijers JHC. 1995. Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion. J Med Genet 32: 657-658.
-
(1995)
J Med Genet
, vol.32
, pp. 657-658
-
-
Van Hemel, J.O.1
Schaap, C.2
Van Opstal, D.3
Mulder, M.P.4
Niermeijer, M.F.5
Meijers, J.H.C.6
-
19
-
-
0032609084
-
Presenting symptoms and clinical features in 130 patients with the velo-cardiofacial syndrome. The Leuven experience
-
Vantrappen G, Devriendt K, Swillen A, et al. 1999. Presenting symptoms and clinical features in 130 patients with the velo-cardiofacial syndrome. The Leuven experience. Genet Counsel 10: 3-9.
-
(1999)
Genet Counsel
, vol.10
, pp. 3-9
-
-
Vantrappen, G.1
Devriendt, K.2
Swillen, A.3
-
20
-
-
0141745950
-
22q11 Deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: Impact of additional ultrasound signs
-
Volpe P, Marasini M, Caruso G, et al. 2003. 22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs. Prenat Diagn 23: 752-757.
-
(2003)
Prenat Diagn
, vol.23
, pp. 752-757
-
-
Volpe, P.1
Marasini, M.2
Caruso, G.3
-
21
-
-
0027432332
-
Syndrome of the month. DiGeorge syndrome: Part of CATCH 22
-
Wilson DI, Burn J, Scambler P, Goodship J. 1993. Syndrome of the month. DiGeorge syndrome: part of CATCH 22. J Med Genet 30: 852-856.
-
(1993)
J Med Genet
, vol.30
, pp. 852-856
-
-
Wilson, D.I.1
Burn, J.2
Scambler, P.3
Goodship, J.4
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