-
1
-
-
0018163665
-
Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears: A new syndrome?
-
Char F (1978) Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears: a new syndrome? Birth Defects Orig Artic Ser 14:303-305.
-
(1978)
Birth Defects Orig Artic Ser
, vol.14
, pp. 303-305
-
-
Char, F.1
-
2
-
-
0028020412
-
Control of the ductus arteriosus: A new function for cytochrome P450, endothelin and nitric oxide
-
Coceani F (1994) Control of the ductus arteriosus: a new function for cytochrome P450, endothelin and nitric oxide. Biochem Pharmacol 48:1315-1318.
-
(1994)
Biochem Pharmacol
, vol.48
, pp. 1315-1318
-
-
Coceani, F.1
-
3
-
-
0027215132
-
A large family with patent ductus arteriosus and unusual face
-
Davidson HR (1993) A large family with patent ductus arteriosus and unusual face. J Med Genet 30:503-505.
-
(1993)
J Med Genet
, vol.30
, pp. 503-505
-
-
Davidson, H.R.1
-
4
-
-
0011334167
-
Genetic and non-genetic factors in the etiology of congenital heart disease: A study of 1188 cases
-
Lamy M, de Grouchy J, Schweisguth O (1957) Genetic and non-genetic factors in the etiology of congenital heart disease: a study of 1188 cases. Am J Hum Genet 9:17-41.
-
(1957)
Am J Hum Genet
, vol.9
, pp. 17-41
-
-
Lamy, M.1
de Grouchy, J.2
Schweisguth, O.3
-
5
-
-
20044365972
-
Syndromic patent ductus arteriosus: Evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder
-
Mani A, Radhakrishnan J, Farhi A, et al. (2005) Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci USA 102:2975-2979.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 2975-2979
-
-
Mani, A.1
Radhakrishnan, J.2
Farhi, A.3
-
6
-
-
0035040846
-
Drosophila transcription factor AP-2 in proboscis, leg and brain central complex development
-
Monge I, Krishnamurthy R, Sims D, et al. (2001) Drosophila transcription factor AP-2 in proboscis, leg and brain central complex development. Development 128:1239-1252.
-
(2001)
Development
, vol.128
, pp. 1239-1252
-
-
Monge, I.1
Krishnamurthy, R.2
Sims, D.3
-
7
-
-
50649103136
-
-
Patent ductus arteriosus. In: Garson AJ, Bricker JT, Fisher DJ, Neish SR (eds) The Science and Practice of Pediatric Cardiology. Baltimore, Md: Williams & Wilkins, pp 1181-1197
-
Mullins CE, Pagotto L (1998) Patent ductus arteriosus. In: Garson AJ, Bricker JT, Fisher DJ, Neish SR (eds) The Science and Practice of Pediatric Cardiology. Baltimore, Md: Williams & Wilkins, pp 1181-1197.
-
(1998)
-
-
Mullins, C.E.1
Pagotto, L.2
-
8
-
-
50649102415
-
-
Patent ductus arteriosus. In: Clinical Recognition of Congenital Heart Disease. Chapter 20, Fifth edition. Philadelphia, Pennsylvania, Saunders, p 403
-
Perloff JK (2003) Patent ductus arteriosus. In: Clinical Recognition of Congenital Heart Disease. Chapter 20, Fifth edition. Philadelphia, Pennsylvania, Saunders, p 403.
-
(2003)
-
-
Perloff, J.K.1
-
9
-
-
0011299133
-
Factors in the causation of persistent ductus arteriosus
-
Polani PE, Cambell M (1960) Factors in the causation of persistent ductus arteriosus. Ann Hum Genet 24:343-357.
-
(1960)
Ann Hum Genet
, vol.24
, pp. 343-357
-
-
Polani, P.E.1
Cambell, M.2
-
11
-
-
0030787856
-
Analysis of donor splice sites in different eukaryotic organisms
-
Rogozin I, Milanesi L (1997) Analysis of donor splice sites in different eukaryotic organisms. J Mol Evol 45:50-59.
-
(1997)
J Mol Evol
, vol.45
, pp. 50-59
-
-
Rogozin, I.1
Milanesi, L.2
-
12
-
-
0033564061
-
Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21
-
Satoda M, Pierpont MEM, Diaz GA, et al. (1999) Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. Circulation 99:3036-3042.
-
(1999)
Circulation
, vol.99
, pp. 3036-3042
-
-
Satoda, M.1
Pierpont, M.E.M.2
Diaz, G.A.3
-
13
-
-
0029932086
-
Transcription factor AP-2 essential for cranial closure and craniofacial development
-
Schorle H, Meier P, Buchert M, et al. (1996) Transcription factor AP-2 essential for cranial closure and craniofacial development. Nature 381:235-238.
-
(1996)
Nature
, vol.381
, pp. 235-238
-
-
Schorle, H.1
Meier, P.2
Buchert, M.3
-
14
-
-
0033522472
-
A WW domain-containing yes-associated protein (YAP) is a novel transcriptional co-activator
-
Yagi R, Chen LF, Shigesada K, et al. (1999) A WW domain-containing yes-associated protein (YAP) is a novel transcriptional co-activator. EMBO J 18:2551-2562.
-
(1999)
EMBO J
, vol.18
, pp. 2551-2562
-
-
Yagi, R.1
Chen, L.F.2
Shigesada, K.3
-
15
-
-
0034836484
-
Novel TFAP2B mutations that cause char syndrome provide a genotype-phenotype correlation
-
Zhao F, Weismann CG, Satoda M, et al. (2001) Novel TFAP2B mutations that cause char syndrome provide a genotype-phenotype correlation. Am J Hum Genet 69:695-703.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 695-703
-
-
Zhao, F.1
Weismann, C.G.2
Satoda, M.3
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