-
4
-
-
0034892604
-
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand split foot malformation suggest a genotype-phenotype correlation
-
(2001)
Am J Hum Genet
, vol.69
, pp. 481-492
-
-
Van Bokhoven, H.1
Hamel, B.C.J.2
Bamshad, M.3
Sangiorgi, E.4
Gurrieri, F.5
Duijf, P.H.G.6
Vanmolkot, K.R.J.7
Van Beusekom, E.8
Van Beersum, S.E.C.9
Celli, J.10
Merkx, G.F.M.11
Tenconi, R.12
Fryns, J.P.13
Verloes, A.14
Newbury-Ecob, R.A.15
Raas-Rothschild, A.16
Majewski, F.17
Beemer, F.A.18
Janecke, A.19
Chitayat, D.20
Crisponi, G.21
Kayserili, H.22
Yates, J.R.W.23
Neri, G.24
Brunner, H.G.25
more..
-
5
-
-
0032744735
-
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
-
(1999)
Cell
, vol.99
, pp. 143-153
-
-
Celli, J.1
Duif, P.2
Hamel, B.C.J.3
Bamshad, M.4
Kramer, B.5
Smits, A.P.T.6
Newbury-Ecob, R.7
Hennekam, R.C.8
Van Buggenhout, G.9
Van Haeringen, A.10
Woods, C.G.11
Van Essen, A.J.12
De Waal, R.13
Vriend, G.14
Haber, D.A.15
Yang, A.16
McKeon, F.17
Brunner, H.G.18
Van Bokhoven, H.19
-
6
-
-
0033071807
-
Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27
-
(1999)
Am J Hum Genet
, vol.64
, pp. 538-546
-
-
Van Bokhoven, H.1
Jung, M.2
Smits, A.P.T.3
Van Beersum, S.4
Ruschendorf, F.5
Van Steensel, M.6
Veenstra, M.7
Tuerlings, J.H.A.M.8
Mariman, E.C.M.9
Brunner, H.G.10
Wienker, T.F.11
Reis, A.12
Ropers, H.H.13
Hamel, B.C.J.14
-
8
-
-
0017118874
-
The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: An autosomal dominant condition
-
(1976)
Br J Dermatol
, vol.94
, pp. 277-289
-
-
Hay, R.J.1
Wells, R.S.2
-
11
-
-
0027526290
-
ADULT-syndrome: An autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia
-
(1993)
Am J Med Genet
, vol.45
, pp. 642-648
-
-
Propping, P.1
Zerres, K.2
-
13
-
-
0029996828
-
Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child
-
(1996)
Am J Med Genet
, vol.63
, pp. 479-481
-
-
Moerman, P.1
Fryns, J.P.2
-
21
-
-
0034425423
-
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
-
(2000)
Nat Genet
, vol.25
, pp. 427-430
-
-
Suzuki, K.1
Hu, D.2
Bustos, T.3
Zlotogora, J.4
Richieri-Costa, A.5
Helms, J.A.6
Spritz, R.A.7
-
22
-
-
0035253507
-
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
-
(2001)
Hum Mol Genet
, vol.10
, pp. 221-229
-
-
McGrath, J.A.1
Duijf, P.H.G.2
Doetsch, V.3
Irvine, A.D.4
De Waal, R.5
Vanmolkot, K.6
Wessagowit, V.7
Kelly, A.8
Atherton, D.J.9
Griffiths, A.D.10
Orlow, S.J.11
Van Haeringen, A.12
Ausems, M.13
Yang, A.14
McKeon, F.15
Bamshad, M.A.16
Brunner, H.G.17
Hamel, B.C.J.18
Van Bokhoven, H.19
-
24
-
-
0036538566
-
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63
-
(2002)
Hum Mot Genet
, vol.11
, pp. 799-804
-
-
Duijf, P.H.G.1
Vanmolkot, K.R.J.2
Propping, P.3
Friedl, W.4
Krieger, E.5
McKeon, F.6
Dötsch, V.7
Brunner, H.G.8
Van Bokhoven, H.9
-
26
-
-
0032161624
-
p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities
-
(1998)
Mol Cell
, vol.2
, pp. 305-316
-
-
Yang, A.1
Kaghad, M.2
Wang, Y.3
Gillett, E.4
Fleming, M.D.5
Dotsch, V.6
Andrews, N.C.7
Caput, D.8
McKeon, F.9
-
32
-
-
0033365199
-
Splicing mutations of 54 bp exons in the COL11A1 gene cause Marshall syndrome but other mutations cause overlapping Marshall/Stickler phenotypes
-
(1999)
Am J Hum Genet
, vol.65
, pp. 974-983
-
-
Annunen, S.1
Korkko, J.2
Czarny, M.3
Warman, M.L.4
Brunner, H.G.5
Kaariainen, H.6
Mulliken, J.B.7
Tranebjaerg, L.8
Brooks, D.G.9
Cox, G.F.10
Cruysberg, J.R.11
Curtis, M.A.12
Davenport, S.L.H.13
Friedrich, C.A.14
Kaitil, I.15
Krawczynski, M.R.16
Latos-Bielenska, A.17
Mukai, S.18
Olsen, B.R.19
Shinno, N.20
Somer, M.21
Vikkula, M.22
Zlotogora, J.23
Prockop, D.J.24
Ala-Kokko, L.25
more..
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