-
2
-
-
0019904696
-
A syndrome of short stature, joint laxity and developmental delay
-
Anderson CE, Bocian ME, Walker AP, Lachman R, Rimoin DL. 1982. A syndrome of short stature, joint laxity and developmental delay. Clin Genet 22:40-46.
-
(1982)
Clin Genet
, vol.22
, pp. 40-46
-
-
Anderson, C.E.1
Bocian, M.E.2
Walker, A.P.3
Lachman, R.4
Rimoin, D.L.5
-
3
-
-
0021966748
-
A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age
-
Beemer FA, Kramer PPG, van der Harten HJ, Gerards LJ. 1985. A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age. Am J Med Genet 20:555-558.
-
(1985)
Am J Med Genet
, vol.20
, pp. 555-558
-
-
Beemer, F.A.1
Kramer, P.P.G.2
Van Der Harten, H.J.3
Gerards, L.J.4
-
4
-
-
0018971248
-
Spondylo-epi-metaphyseal dysplasia with joint laxity
-
Beighton P, Kozlowski K. 1980. Spondylo-epi-metaphyseal dysplasia with joint laxity. Skeletal Radiol 5:205-212.
-
(1980)
Skeletal Radiol
, vol.5
, pp. 205-212
-
-
Beighton, P.1
Kozlowski, K.2
-
5
-
-
0033695677
-
Diastrophic dysplasia with severe primary kyphosis and "monkey wrench" appearance of the femora
-
Bieganski T, Faflik J, Kozlowski K. 2000. Diastrophic dysplasia with severe primary kyphosis and "monkey wrench" appearance of the femora. Australas Radiol 44:450-453.
-
(2000)
Australas Radiol
, vol.44
, pp. 450-453
-
-
Bieganski, T.1
Faflik, J.2
Kozlowski, K.3
-
6
-
-
0000935499
-
Nanisme chondrody strophique avec ossification anarchique et polymalformations chez deux soeurs
-
Desbuquois G, Grenier B, Michel J, Mlle Rossignol G. 1966. Nanisme chondrody strophique avec ossification anarchique et polymalformations chez deux soeurs. Arch Franc Pediatr 23:573-587.
-
(1966)
Arch Franc Pediatr
, vol.23
, pp. 573-587
-
-
Desbuquois, G.1
Grenier, B.2
Michel, J.3
Mlle Rossignol, G.4
-
7
-
-
0037374842
-
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3
-
Faivre L, Le Merrer M, Al-Gazali LI, Ausems MGEM, Bitoun P, Bracq D, Maroteaux P, Munnich A, Cormier-Daire V. 2003. Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. J Med Genet 40:282-284.
-
(2003)
J Med Genet
, vol.40
, pp. 282-284
-
-
Faivre, L.1
Le Merrer, M.2
Al-Gazali, L.I.3
Ausems, M.G.E.M.4
Bitoun, P.5
Bracq, D.6
Maroteaux, P.7
Munnich, A.8
Cormier-Daire, V.9
-
8
-
-
0942266183
-
Desbuquois dysplasia, a reevaluation with hand abnormal and "normal" hands: Radiographic manifestations
-
Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroreaux P, Le Merrer M, Lachman R. 2004a. Desbuquois dysplasia, a reevaluation with hand abnormal and "normal" hands: Radiographic manifestations. AJMG 124A:48-53.
-
(2004)
AJMG
, vol.124 A
, pp. 48-53
-
-
Faivre, L.1
Cormier-Daire, V.2
Eliott, A.M.3
Field, F.4
Munnich, A.5
Maroreaux, P.6
Le Merrer, M.7
Lachman, R.8
-
9
-
-
9144272550
-
Long-term outcome in Desbuquois dysplasia: A follow-up in four adult patients
-
Faivre L, Cormier-Daire V, Young I, Bracq H, Finidori G, Padovani JP, Odent S, Lachman R, Munnich A, Maroreaux P, Le Merrer M. 2004b. Long-term outcome in Desbuquois dysplasia: A follow-up in four adult patients. AJMG 124A:54-59.
-
(2004)
AJMG
, vol.124 A
, pp. 54-59
-
-
Faivre, L.1
Cormier-Daire, V.2
Young, I.3
Bracq, H.4
Finidori, G.5
Padovani, J.P.6
Odent, S.7
Lachman, R.8
Munnich, A.9
Maroreaux, P.10
Le Merrer, M.11
-
10
-
-
0028940215
-
Desbuquois syndrome: Three further cases and review of the literture
-
Gillessen-Kaesbach G, Meinecke P, Ausems MGEM, Nothen M, Albracht B, Beemer FA, Zerres K. 1995. Desbuquois syndrome:three further cases and review of the literture. Clinical Dysmorphology 4:136-144.
-
(1995)
Clinical Dysmorphology
, vol.4
, pp. 136-144
-
-
Gillessen-Kaesbach, G.1
Meinecke, P.2
Ausems, M.G.E.M.3
Nothen, M.4
Albracht, B.5
Beemer, F.A.6
Zerres, K.7
-
11
-
-
0035141431
-
Lethality in Desbuquois dysplasia: Three new cases
-
Hall BD. 2001. Lethality in Desbuquois dysplasia: Three new cases. Pediatr Radiol 31:43-47.
-
(2001)
Pediatr Radiol
, vol.31
, pp. 43-47
-
-
Hall, B.D.1
-
12
-
-
0026761526
-
Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age
-
Jequier S, Perreault G, Maroteaux P. 1992. Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age. Pediatr Radiol 22:440-442.
-
(1992)
Pediatr Radiol
, vol.22
, pp. 440-442
-
-
Jequier, S.1
Perreault, G.2
Maroteaux, P.3
-
14
-
-
0016811283
-
L'heterogeneite du syndrome de Larsen
-
Maroteaux P. 1975. L'heterogeneite du syndrome de Larsen. Arch Franc Pediatr 32:597-600.
-
(1975)
Arch Franc Pediatr
, vol.32
, pp. 597-600
-
-
Maroteaux, P.1
-
16
-
-
0024636816
-
Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: Another observation
-
Meinecke P, Spranger J, Schaefer E, Maroteaux P. 1989. Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: Another observation. Am J Med Genet 32:432-434.
-
(1989)
Am J Med Genet
, vol.32
, pp. 432-434
-
-
Meinecke, P.1
Spranger, J.2
Schaefer, E.3
Maroteaux, P.4
-
17
-
-
0033008391
-
A mild variant of Desbuquois dysplasia
-
Nishimura G, Hong HS, Kawame H, Sato S, Cai G, Ozono K. 1999. A mild variant of Desbuquois dysplasia. Eur J Pediatr 158:479-483.
-
(1999)
Eur J Pediatr
, vol.158
, pp. 479-483
-
-
Nishimura, G.1
Hong, H.S.2
Kawame, H.3
Sato, S.4
Cai, G.5
Ozono, K.6
-
18
-
-
0028285972
-
Sesbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis
-
Ogle RF, Wilson MJ, Kozlowski K, Sillence DO. 1994. Sesbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis. Am J Med Genet 51:216-221.
-
(1994)
Am J Med Genet
, vol.51
, pp. 216-221
-
-
Ogle, R.F.1
Wilson, M.J.2
Kozlowski, K.3
Sillence, D.O.4
-
20
-
-
0016838856
-
Dysplasie osseuse avec nanisme et alterations squelettiques diffuses. Six observations
-
Piussan C, Maroteaux P, Castroviejo I, Risbourg B. 1975. Dysplasie osseuse avec nanisme et alterations squelettiques diffuses. Six observations. Arch Franc Ped 32:541-550.
-
(1975)
Arch Franc Ped
, vol.32
, pp. 541-550
-
-
Piussan, C.1
Maroteaux, P.2
Castroviejo, I.3
Risbourg, B.4
-
21
-
-
0028017852
-
Desbuquois Syndrome: Clinical, radiographic and morphologic characterization
-
Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL. 1994. Desbuquois Syndrome: Clinical, radiographic and morphologic characterization. Am J Med Genet 52:9-18.
-
(1994)
Am J Med Genet
, vol.52
, pp. 9-18
-
-
Shohat, M.1
Lachman, R.2
Gruber, H.E.3
Hsia, Y.E.4
Golbus, M.S.5
Witt, D.R.6
Bodell, A.7
Bryke, C.R.8
Hogge, W.A.9
Rimoin, D.L.10
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