-
1
-
-
0025308129
-
An autosomal dominant inherited syndrome with congenital stapes ankylosis
-
Teunissen B, Cremers WR. An autosomal dominant inherited syndrome with congenital stapes ankylosis. Laryngoscope 1990;100:380-4.
-
(1990)
Laryngoscope
, vol.100
, pp. 380-384
-
-
Teunissen, B.1
Cremers, W.R.2
-
2
-
-
0033491471
-
Proximal symphalangism and congenital conductive hearing loss: Otologic aspects
-
Ensink RJ, Sleeckx JP, Cremers CW. Proximal symphalangism and congenital conductive hearing loss: otologic aspects. Am J Otol 1999;20:344-9.
-
(1999)
Am J Otol
, vol.20
, pp. 344-349
-
-
Ensink, R.J.1
Sleeckx, J.P.2
Cremers, C.W.3
-
4
-
-
0032231746
-
Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22
-
Krakow D, Reinker K, Powell B, et al. Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. Am J Hum Genet 1998;63:120-4.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 120-124
-
-
Krakow, D.1
Reinker, K.2
Powell, B.3
-
5
-
-
0033052269
-
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
-
Gong Y, Krakow D, Marcelino J, et al. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet 1999;21:302-4.
-
(1999)
Nat Genet
, vol.21
, pp. 302-304
-
-
Gong, Y.1
Krakow, D.2
Marcelino, J.3
-
6
-
-
0035695346
-
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome
-
Takahashi T, Takahashi I, Komatsu M, et al. Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. Clin Genet 2001;60:447-51.
-
(2001)
Clin Genet
, vol.60
, pp. 447-451
-
-
Takahashi, T.1
Takahashi, I.2
Komatsu, M.3
-
7
-
-
0036514147
-
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism
-
Mangino M, Flex E, Digilio MC, et al. Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. Hum Mutat 2002;19:308.
-
(2002)
Hum Mutat
, vol.19
, pp. 308
-
-
Mangino, M.1
Flex, E.2
Digilio, M.C.3
-
8
-
-
0030598829
-
The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4
-
Zimmerman LB, De Jesus-Escobar JM, Harland RM. The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4, Cell 1996;86:599-606.
-
(1996)
Cell
, vol.86
, pp. 599-606
-
-
Zimmerman, L.B.1
De Jesus-Escobar, J.M.2
Harland, R.M.3
-
9
-
-
0032577276
-
Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton
-
Brunet LJ, McMahon JA. McMahon AP, et al. Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science 1998;280:1455-7.
-
(1998)
Science
, vol.280
, pp. 1455-1457
-
-
Brunet, L.J.1
McMahon, J.A.2
McMahon, A.P.3
-
10
-
-
0036724491
-
Autosomal dominant stapes ankylosis, broad thumbs, hyperopia and skeletal anomalies caused by heterozygous nonsense and frameshift mutations in the noggin gene
-
Brown DJ, Kim TB, Petty EM, et al. Autosomal dominant stapes ankylosis, broad thumbs, hyperopia and skeletal anomalies caused by heterozygous nonsense and frameshift mutations in the noggin gene. Am J Hum Genet 2002;71:618-24.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 618-624
-
-
Brown, D.J.1
Kim, T.B.2
Petty, E.M.3
-
11
-
-
0002054942
-
Variation of the digital skeleton of the foot
-
Venning P. Variation of the digital skeleton of the foot. Clin Orthop 1960;16:26-40.
-
(1960)
Clin Orthop
, vol.16
, pp. 26-40
-
-
Venning, P.1
-
12
-
-
0028813654
-
The two-boned fifth toe: Clinical implications
-
Thompson FM, Chang VK. The two-boned fifth toe: clinical implications. Foot Ankle Int 1995;16:34-6.
-
(1995)
Foot Ankle Int
, vol.16
, pp. 34-36
-
-
Thompson, F.M.1
Chang, V.K.2
-
13
-
-
0035113031
-
Biphalangeal fifth toe: An increasingly common variant?
-
George M. Biphalangeal fifth toe: an increasingly common variant? J Anat 2001;198(Pt 2):251.
-
(2001)
J Anat
, vol.198
, Issue.PART 2
, pp. 251
-
-
George, M.1
-
14
-
-
0030789047
-
The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia
-
Hilhorst-Hofstee Y, Watkin PM, Hall CM, et al. The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. Clin Dysmorphol 1997;6:195-203.
-
(1997)
Clin Dysmorphol
, vol.6
, pp. 195-203
-
-
Hilhorst-Hofstee, Y.1
Watkin, P.M.2
Hall, C.M.3
-
15
-
-
0033582552
-
Congenital stapes ankylosis, broad thumbs, and hyperopia: Report of a family and refinement of a syndrome
-
Milunsky J, Suntra C, MacDonald CB. Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome. Am J Med Genet 1999;82:404-8.
-
(1999)
Am J Med Genet
, vol.82
, pp. 404-408
-
-
Milunsky, J.1
Suntra, C.2
MacDonald, C.B.3
|