-
1
-
-
17344363774
-
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
-
Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V. 1998. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 19:67-69.
-
(1998)
Nat Genet
, vol.19
, pp. 67-69
-
-
Belin, V.1
Cusin, V.2
Viot, G.3
Girlich, D.4
Toutain, A.5
Moncla, A.6
Vekemans, M.7
Le Merrer, M.8
Munnich, A.9
Cormier-Daire, V.10
-
2
-
-
0034750010
-
A new locus for Seckel syndrome on chromosome 1811p31-q11.2
-
Borglum AD, Balslev T, Haagerup A, Birkebaek N, Binderup H, Kruse TA, Hertz JM. 2001. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. Eur J Hum Genet 9:753-757.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 753-757
-
-
Borglum, A.D.1
Balslev, T.2
Haagerup, A.3
Birkebaek, N.4
Binderup, H.5
Kruse, T.A.6
Hertz, J.M.7
-
3
-
-
0023278875
-
Do some patients with Seekel syndrome have hematological problems and/or chromosome breakage?
-
Butler MG, Hall BD, Maclean RN, Lozzio CB. 1987. Do some patients with Seekel syndrome have hematological problems and/or chromosome breakage? Am J Med Genet 27:645-649.
-
(1987)
Am J Med Genet
, vol.27
, pp. 645-649
-
-
Butler, M.G.1
Hall, B.D.2
Maclean, R.N.3
Lozzio, C.B.4
-
4
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J. 1996. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
5
-
-
0033853562
-
Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24
-
Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M. 2000. Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24. Am J Hum Genet 67:498-503.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 498-503
-
-
Goodship, J.1
Gill, H.2
Carter, J.3
Jackson, A.4
Splitt, M.5
Wright, M.6
-
6
-
-
0020053315
-
Studies of microcephalic primordial dwarfism. I. Approach to a delineation of the Seckel syndrome
-
Majewski F, Goecke T. 1982. Studies of microcephalic primordial dwarfism. I. Approach to a delineation of the Seckel syndrome. Am J Med Genet 12:7-21.
-
(1982)
Am J Med Genet
, vol.12
, pp. 7-21
-
-
Majewski, F.1
Goecke, T.2
-
7
-
-
0020036950
-
Studies of microcephalic primordial dwarfism. II. The osteodysplastic type II of primordial dwarfism. Approach to a delineation of the Seekel syndrome
-
Majewski F, Ranke M, Schinzel A. 1982. Studies of microcephalic primordial dwarfism. II. The osteodysplastic type II of primordial dwarfism. Approach to a delineation of the Seekel syndrome. Am J Med Genet 12:23-35.
-
(1982)
Am J Med Genet
, vol.12
, pp. 23-35
-
-
Majewski, F.1
Ranke, M.2
Schinzel, A.3
-
8
-
-
0030069811
-
Bird headed dwarfism in Seckel syndrome. Nosologic difficulties
-
Parent P, Moulin S, Munck MR, de Parscau L, Alix D. 1996. Bird headed dwarfism in Seckel syndrome. Nosologic difficulties. Arch Pediatr 3:55-62.
-
(1996)
Arch Pediatr
, vol.3
, pp. 55-62
-
-
Parent, P.1
Moulin, S.2
Munck, M.R.3
De Parscau, L.4
Alix, D.5
-
9
-
-
0021791281
-
Seckel syndrome: An overdiagnosed syndrome
-
Thompson E, Pembrey M. 1985. Seckel syndrome: an overdiagnosed syndrome. J Med Genet 22:192-201.
-
(1985)
J Med Genet
, vol.22
, pp. 192-201
-
-
Thompson, E.1
Pembrey, M.2
-
10
-
-
0023197758
-
Microcephalic osteodysplastic dwarfism (type II-like) in siblings
-
Verloes A, Lambrechts L, Senterre J, Lambotte C. 1987. Microcephalic osteodysplastic dwarfism (type II-like) in siblings. Clin Genet 32:88-94.
-
(1987)
Clin Genet
, vol.32
, pp. 88-94
-
-
Verloes, A.1
Lambrechts, L.2
Senterre, J.3
Lambotte, C.4
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