-
1
-
-
0003140712
-
The clinical significance of 22q11 deletion
-
Clark EB, Markwald RR, Takao A (eds): Armonk, NY: Futura
-
Burn J, Wilson DI, Cross I, Atif U, Scambler P, Takao A, Goodship J (1995): The clinical significance of 22q11 deletion. In Clark EB, Markwald RR, Takao A (eds): "Developmental Mechanisms of Heart Disease." Armonk, NY: Futura, pp 559-567.
-
(1995)
Developmental Mechanisms of Heart Disease
, pp. 559-567
-
-
Burn, J.1
Wilson, D.I.2
Cross, I.3
Atif, U.4
Scambler, P.5
Takao, A.6
Goodship, J.7
-
2
-
-
0029150742
-
MR of the cerebral operculum: Topographic identification and measurement of interopercular distances in healthy infants and children
-
Chen C, Zimmerman R, Faro S, et al. (1995): MR of the cerebral operculum: Topographic identification and measurement of interopercular distances in healthy infants and children. AJNR 16:1677-1687.
-
(1995)
AJNR
, vol.16
, pp. 1677-1687
-
-
Chen, C.1
Zimmerman, R.2
Faro, S.3
-
3
-
-
0026662962
-
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
-
Driscoll DA, Spinner NB, Budarf ML, et al. (1992): Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 44:261-268.
-
(1992)
Am J Med Genet
, vol.44
, pp. 261-268
-
-
Driscoll, D.A.1
Spinner, N.B.2
Budarf, M.L.3
-
4
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic-counseling and prenatal-diagnosis
-
Driscoll DA, Salvin J, Sellinger B, et al. (1993): Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial 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
-
6
-
-
0026721692
-
Neurological findings and seizure outcome in children with bilateral opercular macrogyric-like changes detected by MRI
-
Guerrini R, Dravet C, Raybaud C, et al. (1992): Neurological findings and seizure outcome in children with bilateral opercular macrogyric-like changes detected by MRI. Dev Med Child Neurol 34:694-705.
-
(1992)
Dev Med Child Neurol
, vol.34
, pp. 694-705
-
-
Guerrini, R.1
Dravet, C.2
Raybaud, C.3
-
7
-
-
0027459424
-
Confirmation that the velocardio-facial syndrome is associated with haploinsufficiency of genes at chromosome-22q11
-
Kelly D, Goldberg R, Wilson D, et al. (1993): Confirmation that the velocardio-facial syndrome is associated with haploinsufficiency of genes at chromosome-22q11. Am J Med Genet 45:308-312.
-
(1993)
Am J Med Genet
, vol.45
, pp. 308-312
-
-
Kelly, D.1
Goldberg, R.2
Wilson, D.3
-
8
-
-
0027972653
-
The congenital bilateral perisylvian syndrome: Imaging findings in a multicenter study
-
Kuzniecky R, Andermann F (1994): The congenital bilateral perisylvian syndrome: Imaging findings in a multicenter study. AJNR 15:139-144.
-
(1994)
AJNR
, vol.15
, pp. 139-144
-
-
Kuzniecky, R.1
Andermann, F.2
-
9
-
-
0027473939
-
Congenital bilateral perisylvian syndrome: Study of 31 patients
-
Kuzniecky R, Andermann F, Guerrini R (1993): Congenital bilateral perisylvian syndrome: Study of 31 patients. Lancet 341:608-612.
-
(1993)
Lancet
, vol.341
, pp. 608-612
-
-
Kuzniecky, R.1
Andermann, F.2
Guerrini, R.3
-
10
-
-
0029166983
-
Cerebellar atrophy in a patient with velocardiofacial syndrome
-
Lynch D, McDonald-McGinn D, Zackai E, et al. (1995): Cerebellar atrophy in a patient with velocardiofacial syndrome. J Med Genet 32:561-5638.
-
(1995)
J Med Genet
, vol.32
, pp. 561-5638
-
-
Lynch, D.1
McDonald-McGinn, D.2
Zackai, E.3
-
12
-
-
0028050110
-
Hypoparathyroidism as the major manifestation in 2 patients with 22q11 deletions
-
Scire G, Dallapiccola B, Iannetti P, et al. (1994): Hypoparathyroidism as the major manifestation in 2 patients with 22q11 deletions. Am J Med Genet 52:478-482.
-
(1994)
Am J Med Genet
, vol.52
, pp. 478-482
-
-
Scire, G.1
Dallapiccola, B.2
Iannetti, P.3
-
14
-
-
0017821181
-
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
-
Shprintzen RJ, Goldberg RB, Lewin ML, et al. (1978): A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome. Cleft Palate J 15:56-62.
-
(1978)
Cleft Palate J
, vol.15
, pp. 56-62
-
-
Shprintzen, R.J.1
Goldberg, R.B.2
Lewin, M.L.3
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