-
1
-
-
0029989445
-
Renal and urological tract malformations caused by 22q11 deletion
-
Devriendt K, Swillen A, Fryns J, Proesmans W, Gewillig M. 1996. Renal and urological tract malformations caused by 22q11 deletion. J Med Genet 33:349.
-
(1996)
J Med Genet
, vol.33
, pp. 349
-
-
Devriendt, K.1
Swillen, A.2
Fryns, J.3
Proesmans, W.4
Gewillig, M.5
-
2
-
-
0027370619
-
Prevalence of 22q11 microdeletions in Digeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis
-
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 counseling and prenatal diagnosis. J Med Genet 30:13-17.
-
(1993)
J Med Genet
, vol.30
, pp. 13-17
-
-
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
-
3
-
-
0027442395
-
Microdeletions of the chromosomal region 22q11 in patients with congenital conotruncal cardiac defects
-
Goldmuntz E, Driscoll DA, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS. 1993. Microdeletions of the chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 30:807-812.
-
(1993)
J Med Genet
, vol.30
, pp. 807-812
-
-
Goldmuntz, E.1
Driscoll, D.A.2
Budarf, M.L.3
Zackai, E.H.4
McDonald-McGinn, D.M.5
Biegel, J.A.6
Emanuel, B.S.7
-
4
-
-
0030883596
-
Renal abnormalities on obstetrical ultrasound as a presentation of the Digeorge syndrome
-
Goodship J, Robson SC, Sturgiss S, Cross IE, Wright C. 1997. Renal abnormalities on obstetrical ultrasound as a presentation of the DiGeorge syndrome. Prenat Diagn 17:867-870.
-
(1997)
Prenat Diagn
, vol.17
, pp. 867-870
-
-
Goodship, J.1
Robson, S.C.2
Sturgiss, S.3
Cross, I.E.4
Wright, C.5
-
5
-
-
0028019184
-
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
-
Matsuoka R, TakaoA, 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
Kimura, M.2
Imamura, S.3
Kondo, C.4
Joh-O, K.5
Ikeda, K.6
Nishibatake, M.7
Ando, M.8
Momma, K.9
-
6
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
Ryan A, Goodship J, Wilson D, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond F, Clayton-Smith J, Hatchwell E, McKeown C, Beemer F, Dallapiccola B, Novelli G, Hurst J, Ignatius J, Green A, Winter R, Brueton L, Brøndum-Nielsen K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler P. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet 34:798-804.
-
(1997)
J Med Genet
, vol.34
, pp. 798-804
-
-
Ryan, A.1
Goodship, J.2
Wilson, D.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.12
Clayton-Smith, J.13
Hatchwell, E.14
McKeown, C.15
Beemer, F.16
Dallapiccola, B.17
Novelli, G.18
Hurst, J.19
Ignatius, J.20
Green, A.21
Winter, R.22
Brueton, L.23
Brøndum-Nielsen, K.24
Stewart, F.25
Van Essen, T.26
Patton, M.27
Paterson, J.28
Scambler, P.29
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