-
1
-
-
0032744735
-
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
-
Celli J., Hamel B.C., Bamshad M., Kramer B., Smith A.P., Newbury-Ecob R., Hennekam R.C.M., Van Buggenhout G., Van Haeringen A., Woods C.G., Van Essen A.J., De Waal R., Vriend G., Haber D.A., Yang A., McKeon F., Brunner H.G., Van Bokhoven H.: Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell, 1999, 99, 143-153.
-
(1999)
Cell
, vol.99
, pp. 143-153
-
-
Celli, J.1
Hamel, B.C.2
Bamshad, M.3
Kramer, B.4
Smith, A.P.5
Newbury-Ecob, R.6
Hennekam, R.C.M.7
Van Buggenhout, G.8
Van Haeringen, A.9
Woods, C.G.10
Van Essen, A.J.11
De Waal, R.12
Vriend, G.13
Haber, D.A.14
Yang, A.15
McKeon, F.16
Brunner, H.G.17
Van Bokhoven, H.18
-
2
-
-
0004038019
-
-
Paris, Masson et Cie
-
Duhamel B., Haegel P., Pages R.: Morphogenese Pathologique, Des Monstruosités aux Malformations. Paris, Masson et Cie, 1966, 172.
-
(1966)
Morphogenese Pathologique, Des Monstruosités aux Malformations
, pp. 172
-
-
Duhamel, B.1
Haegel, P.2
Pages, R.3
-
3
-
-
0032545201
-
Bilateral involvement of hands and legs in the Gollop-Wolfgang complex
-
Endo A., Watanabe K., Shimada M., Minato M., Takada M., Takahashi S., Harada K.: Bilateral involvement of hands and legs in the Gollop-Wolfgang complex. Am. J. Med. Genet., 1998, 80, 529-530.
-
(1998)
Am. J. Med. Genet.
, vol.80
, pp. 529-530
-
-
Endo, A.1
Watanabe, K.2
Shimada, M.3
Minato, M.4
Takada, M.5
Takahashi, S.6
Harada, K.7
-
4
-
-
0001275225
-
Congenital squeletal limb deficiencies
-
Frantz C.H., O'Rahilly R.: Congenital squeletal limb deficiencies. J. Bone Joint Surg., 1961, 43A, 1202.
-
(1961)
J. Bone Joint Surg.
, vol.43 A
, pp. 1202
-
-
Frantz, C.H.1
O'Rahilly, R.2
-
5
-
-
0027199727
-
The breakpoint of the EEC syndrome confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridation
-
Fukushima Y., Ohashi H., Hasegawa T.: The breakpoint of the EEC syndrome confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridation (letter). Clin. Genet., 1993, 44, 50.
-
(1993)
Clin. Genet.
, vol.44
, pp. 50
-
-
Fukushima, Y.1
Ohashi, H.2
Hasegawa, T.3
-
6
-
-
0025184023
-
Brachy/ectrodactyly and absence or hypoplasia of the fibula: An autosomal dominant condition with low penetrance and variable expressivity
-
Genuardi M., Zollino M., Bellussi A., Fuhrmann W., Neri G.: Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity. Clin. Genet., 1990, 38, 321-326.
-
(1990)
Clin. Genet.
, vol.38
, pp. 321-326
-
-
Genuardi, M.1
Zollino, M.2
Bellussi, A.3
Fuhrmann, W.4
Neri, G.5
-
7
-
-
0020058259
-
Autosomal dominant asymetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia)
-
Harding A.E., Hall C.M., Baraitser M.: Autosomal dominant asymetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia). J. Med. Genet., 1982, 19, 110-115.
-
(1982)
J. Med. Genet.
, vol.19
, pp. 110-115
-
-
Harding, A.E.1
Hall, C.M.2
Baraitser, M.3
-
8
-
-
0025955374
-
EEC syndrome with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations
-
Hasegawa T, Hasegawa Y, Asamura S, Nagai T, Tsuchiya Y, Ninomiya M, Fukushima Y.: EEC syndrome with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. Clin. Genet., 1991, 40, 202-206.
-
(1991)
Clin. Genet.
, vol.40
, pp. 202-206
-
-
Hasegawa, T.1
Hasegawa, Y.2
Asamura, S.3
Nagai, T.4
Tsuchiya, Y.5
Ninomiya, M.6
Fukushima, Y.7
-
9
-
-
0002420827
-
A familial dysmorphogenetic syndrome of limb deformities, characteristic facial apparence and associated anomalies: The «pseudothalidomide» or «SC syndrome»
-
Hermann J., Feingold M., Tuffi G.A. Opitz J.M.: A familial dysmorphogenetic syndrome of limb deformities, characteristic facial apparence and associated anomalies: the «pseudothalidomide» or «SC syndrome». Birth Defects Orig. Art. Ser., 1969, 3, 81-89.
-
(1969)
Birth Defects Orig. Art. Ser.
, vol.3
, pp. 81-89
-
-
Hermann, J.1
Feingold, M.2
Tuffi, G.A.3
Opitz, J.M.4
-
10
-
-
0023231096
-
Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: Further clinical delineation
-
Hoyme H.E., Jones K.L., Nyhan W.L., Pauli R.M., Robinow M.: Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation. J. Ped., 1987, 11, 538-543.
-
(1987)
J. Ped.
, vol.11
, pp. 538-543
-
-
Hoyme, H.E.1
Jones, K.L.2
Nyhan, W.L.3
Pauli, R.M.4
Robinow, M.5
-
11
-
-
0017363557
-
Unilateral and asymetric limb defects in man: Delineation of the femur-fibulaulna complex
-
Lenz W., Feldmann U.: Unilateral and asymetric limb defects in man: delineation of the femur-fibulaulna complex. Birth Defects Orig. Art. Ser., 1977, 13, 269-285.
-
(1977)
Birth Defects Orig. Art. Ser.
, vol.13
, pp. 269-285
-
-
Lenz, W.1
Feldmann, U.2
-
12
-
-
1842413728
-
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
-
Li Q.Y., Newbury-Ecob R.A., Terreyy J.A., Wilson D.I., Curtis A.R.J., Yi C.H., Gebuhr T., Bullen O.J., Robson S.C., Strachan J., Bonnet D., Lyonnet S., Young I.D., Raeburn J.A., Law D.J., Brook J.D.: Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat. Genet., 1997, 15, 21-29.
-
(1997)
Nat. Genet.
, vol.15
, pp. 21-29
-
-
Li, Q.Y.1
Newbury-Ecob, R.A.2
Terreyy, J.A.3
Wilson, D.I.4
Curtis, A.R.J.5
Yi, C.H.6
Gebuhr, T.7
Bullen, O.J.8
Robson, S.C.9
Strachan, J.10
Bonnet, D.11
Lyonnet, S.12
Young, I.D.13
Raeburn, J.A.14
Law, D.J.15
Brook, J.D.16
-
13
-
-
0021886180
-
Aplasia of tibia with split-hand/split-foot deformity: Report of six families with 35 cases and considerations about variability and penetrance
-
Majewski F., Kuster W., Ter Haar B., Goecke T.: Aplasia of tibia with split-hand/split-foot deformity: report of six families with 35 cases and considerations about variability and penetrance. Hum. Genet., 1985, 70, 136-147.
-
(1985)
Hum. Genet.
, vol.70
, pp. 136-147
-
-
Majewski, F.1
Kuster, W.2
Ter Haar, B.3
Goecke, T.4
-
14
-
-
0034037178
-
Autosomal dominant ectrodactyly with sensorineural deafness
-
Mishra P., Muranjan M., Bharucha B.A.: Autosomal dominant ectrodactyly with sensorineural deafness. Clin. Dysmorphol., 2000, 9, 119-121.
-
(2000)
Clin. Dysmorphol.
, vol.9
, pp. 119-121
-
-
Mishra, P.1
Muranjan, M.2
Bharucha, B.A.3
-
16
-
-
0010658448
-
A pedigree of malformed upper extremities
-
Stiles K.A., Dougan P.: A pedigree of malformed upper extremities. J. Hered., 1940, 31, 65-72.
-
(1940)
J. Hered.
, vol.31
, pp. 65-72
-
-
Stiles, K.A.1
Dougan, P.2
-
17
-
-
0016215193
-
L'association phocomélie-ectrodactylie, malformation des oreilles avec surdité, arythmie sinusale constitue-t-elle un nouveau syndrome héréditaire?
-
Stoll C., Levy J.M., Francfort J., Ross R., Rohmer A.: L'association phocomélie-ectrodactylie, malformation des oreilles avec surdité, arythmie sinusale constitue-t-elle un nouveau syndrome héréditaire? Arch. Franç. Ped., 1974, 31, 669-680.
-
(1974)
Arch. Franç. Ped.
, vol.31
, pp. 669-680
-
-
Stoll, C.1
Levy, J.M.2
Francfort, J.3
Ross, R.4
Rohmer, A.5
-
18
-
-
0013656160
-
The genetics of hand malformations
-
New York. The National Foundation-March of Dimes Alan R.Liss, Inc.
-
Temtamy S., McKusick V.: The genetics of hand malformations. Birth Defects. New York. The National Foundation-March of Dimes Alan R.Liss, Inc., 1978, 14 (3), p. 6.
-
(1978)
Birth Defects
, vol.14
, Issue.3
, pp. 6
-
-
Temtamy, S.1
McKusick, V.2
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