-
1
-
-
2542496696
-
An ENU-induced mutation in AP-2 alpha leads to middle ear and ocular defects in Doarad mice
-
Ahituv N, Erven A, Fuchs H, Guy K, shery-Padan R, Williams T, de Angelis MH, Avraham KB, Steel KP. 2004. An ENU-induced mutation in AP-2 alpha leads to middle ear and ocular defects in Doarad mice. Mamm Genome 15:424-432.
-
(2004)
Mamm Genome
, vol.15
, pp. 424-432
-
-
Ahituv, N.1
Erven, A.2
Fuchs, H.3
Guy, K.4
shery-Padan, R.5
Williams, T.6
de Angelis, M.H.7
Avraham, K.B.8
Steel, K.P.9
-
3
-
-
25444528682
-
Transcription factor AP-2 and monoaminergic functions in the central nervous system
-
Damberg M. 2005. Transcription factor AP-2 and monoaminergic functions in the central nervous system. J Neural Transm 112:1281-1296.
-
(2005)
J Neural Transm
, vol.112
, pp. 1281-1296
-
-
Damberg, M.1
-
4
-
-
17744408980
-
A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome
-
Davies AF, Olavesen MG, Stephens RJ, Davidson R, Delneste D, VanRegemorter N, Vamos E, Flinter F, Abusaad I, Ragoussis J. 1996. A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome. Hum Genet 98:454-459.
-
(1996)
Hum Genet
, vol.98
, pp. 454-459
-
-
Davies, A.F.1
Olavesen, M.G.2
Stephens, R.J.3
Davidson, R.4
Delneste, D.5
VanRegemorter, N.6
Vamos, E.7
Flinter, F.8
Abusaad, I.9
Ragoussis, J.10
-
5
-
-
0032877883
-
An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2a that affects anterior eye chamber development
-
Davies AF, Mirza G, Flinter F, Ragoussis J. 1999a. An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2a that affects anterior eye chamber development. J Med Genet 36:708-710.
-
(1999)
J Med Genet
, vol.36
, pp. 708-710
-
-
Davies, A.F.1
Mirza, G.2
Flinter, F.3
Ragoussis, J.4
-
6
-
-
0033012816
-
Delineation of two distinct 6p deletion syndromes
-
Davies AF, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, Ragoussis J. 1999b. Delineation of two distinct 6p deletion syndromes. Hum Genet 104:64-72.
-
(1999)
Hum Genet
, vol.104
, pp. 64-72
-
-
Davies, A.F.1
Mirza, G.2
Sekhon, G.3
Turnpenny, P.4
Leroy, F.5
Speleman, F.6
Law, C.7
van Regemorter, N.8
Vamos, E.9
Flinter, F.10
Ragoussis, J.11
-
7
-
-
57149113850
-
Molecular and cytogenetic studies in Cornelia de Lange syndrome
-
Descipio C. 2007. Molecular and cytogenetic studies in Cornelia de Lange syndrome. Am J Med Genet Part A 143A:1302.
-
(2007)
Am J Med Genet
, vol.143 A
, Issue.PART A
, pp. 1302
-
-
Descipio, C.1
-
8
-
-
8644243905
-
Dysmorphology and the orbital region: A practical clinical approach
-
Dollfus HN, Verloes A. 2004. Dysmorphology and the orbital region: A practical clinical approach. Surv Ophthalmol 49:547-561.
-
(2004)
Surv Ophthalmol
, vol.49
, pp. 547-561
-
-
Dollfus, H.N.1
Verloes, A.2
-
9
-
-
33744912750
-
Frontal nasal prominence expression driven by Tcfap2a relies on a conserved binding site for STAT proteins
-
Donner AL, Williams T. 2006. Frontal nasal prominence expression driven by Tcfap2a relies on a conserved binding site for STAT proteins. Dev Dyn 235:1358-1370.
-
(2006)
Dev Dyn
, vol.235
, pp. 1358-1370
-
-
Donner, A.L.1
Williams, T.2
-
10
-
-
33644802534
-
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1
-
Koolen DA, Knoers NV, Nillesen WM, Slabbers GHPR, Smeets D, de Leeuw N, Sistermans EA, de Vries BBA. 2005. Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1. Eur J Hum Genet 13:1169-1171.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1169-1171
-
-
Koolen, D.A.1
Knoers, N.V.2
Nillesen, W.M.3
Slabbers, G.H.P.R.4
Smeets, D.5
de Leeuw, N.6
Sistermans, E.A.7
de Vries, B.B.A.8
-
11
-
-
34547099856
-
Genetic analysis indicates that transcription factors AP-2 alpha and Pax6 cooperate in the normal patterning and morphogenesis of the lens
-
Makhani LF, Williams T, West-Mays JA. 2007. Genetic analysis indicates that transcription factors AP-2 alpha and Pax6 cooperate in the normal patterning and morphogenesis of the lens. Mol Vis 13:1215-1225.
-
(2007)
Mol Vis
, vol.13
, pp. 1215-1225
-
-
Makhani, L.F.1
Williams, T.2
West-Mays, J.A.3
-
12
-
-
0019121059
-
Complex chromosome rearrangements - Report of a new case and literature review
-
Pai GS, Thomas GH, Mahoney W, Migeon BR. 1980. Complex chromosome rearrangements - Report of a new case and literature review. Clin Genet 18:436-444.
-
(1980)
Clin Genet
, vol.18
, pp. 436-444
-
-
Pai, G.S.1
Thomas, G.H.2
Mahoney, W.3
Migeon, B.R.4
-
13
-
-
33744902872
-
Focus on molecules: Pax-6, the eye master
-
Tsonis PA, Fuentes EJ. 2006. Focus on molecules: Pax-6, the eye master. Exp Eye Res 83:233-234.
-
(2006)
Exp Eye Res
, vol.83
, pp. 233-234
-
-
Tsonis, P.A.1
Fuentes, E.J.2
-
14
-
-
0023858084
-
A Patient with an interstitial deletion of the short arm of chromosome 6
-
Vanswaay E, Beverstock GC, Vandekamp JJP. 1988. A Patient with an interstitial deletion of the short arm of chromosome 6. Clin Genet 33:95-101.
-
(1988)
Clin Genet
, vol.33
, pp. 95-101
-
-
Vanswaay, E.1
Beverstock, G.C.2
Vandekamp, J.J.P.3
|