-
1
-
-
0031971379
-
Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism
-
Berger A, Haschke N, Kohlhauser C, Amman G, Unterberger U, Weninger M. 1998. Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. J Med Genet 35: 61-64.
-
(1998)
J Med Genet
, vol.35
, pp. 61-64
-
-
Berger, A.1
Haschke, N.2
Kohlhauser, C.3
Amman, G.4
Unterberger, U.5
Weninger, M.6
-
2
-
-
0028908478
-
Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism
-
Eason J, Hall CM, Trounce JQ. 1995. Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism. J Mud Genet 32: 234-235.
-
(1995)
J Mud Genet
, vol.32
, pp. 234-235
-
-
Eason, J.1
Hall, C.M.2
Trounce, J.Q.3
-
3
-
-
0024413204
-
Osteodysplastic primordial dwarfism: Report of a further case with manifestations similar to those of type I and III
-
Haan EA, Furness ME, Knowles S, Morris LL, Scott G, Svigos JM, Vigneswaren R. 1989. Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of type I and III. Am J Med Genet 33: 224-227.
-
(1989)
Am J Med Genet
, vol.33
, pp. 224-227
-
-
Haan, E.A.1
Furness, M.E.2
Knowles, S.3
Morris, L.L.4
Scott, G.5
Svigos, J.M.6
Vigneswaren, R.7
-
4
-
-
0027156417
-
Microcephalic, osteodysplastic, primordial dwarfism
-
Kozlowski K, Donovan T, Masel J, Wright RG. 1993. Microcephalic, osteodysplastic, primordial dwarfism. Austral Radiol 37: 111-114.
-
(1993)
Austral Radiol
, vol.37
, pp. 111-114
-
-
Kozlowski, K.1
Donovan, T.2
Masel, J.3
Wright, R.G.4
-
5
-
-
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
-
6
-
-
0020036950
-
Studies of microcephalic primordial dwarfism. II. The osteodysplastic type II of primordial dwarfism
-
Majewski F, Ranke M, Schinzel A. 1982a. Studies of microcephalic primordial dwarfism. II. The osteodysplastic type II of primordial dwarfism. 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
-
7
-
-
0020083952
-
Studies of microcephalic primordial dwarfism. III. An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles - Osteodysplastic rimordial dwarfism type III
-
Majewski F, Stoeckenius M, Kemperdick H. 1982b. Studies of microcephalic primordial dwarfism. III. An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles - osteodysplastic rimordial dwarfism type III. Am J Med Genet 12: 37-42.
-
(1982)
Am J Med Genet
, vol.12
, pp. 37-42
-
-
Majewski, F.1
Stoeckenius, M.2
Kemperdick, H.3
-
8
-
-
0023183324
-
Microcephaly, micrognathia, and birdheaded dwarfism: Prenatal diagnosis of a Seckel-like syndrome
-
Majoor-Krakauer DF, Wladimiroff JW, Stewart PA, Van de Harten JJ, Niermejijer MF. 1987. Microcephaly, micrognathia, and birdheaded dwarfism: prenatal diagnosis of a Seckel-like syndrome. Am J Med Genet 27: 183-188.
-
(1987)
Am J Med Genet
, vol.27
, pp. 183-188
-
-
Majoor-Krakauer, D.F.1
Wladimiroff, J.W.2
Stewart, P.A.3
Van De Harten, J.J.4
Niermejijer, M.F.5
-
9
-
-
0025253462
-
La chondrodysplasie microcephaliquc subletale: Syndrome de Taybi-Linder, nanisme microcephalique primordial de types I et III
-
Maroteaux P, Badoual J. 1990. La chondrodysplasie microcephaliquc subletale: syndrome de Taybi-Linder, nanisme microcephalique primordial de types I et III. Arch Fr Pediatr 47: 103-106.
-
(1990)
Arch Fr Pediatr
, vol.47
, pp. 103-106
-
-
Maroteaux, P.1
Badoual, J.2
-
10
-
-
0026058534
-
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs
-
Meinecke P, Passarge E. 1991. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J Med Genet 28: 795-800.
-
(1991)
J Med Genet
, vol.28
, pp. 795-800
-
-
Meinecke, P.1
Passarge, E.2
-
11
-
-
0025905959
-
Microcephalic osteodysplastic primordial dwarfism: Further evidence for identity of the so-called types I and III
-
Meinecke P, Schaefer E, Wiedemann HR. 1991. Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. Am J Med Genet 39: 232-236.
-
(1991)
Am J Med Genet
, vol.39
, pp. 232-236
-
-
Meinecke, P.1
Schaefer, E.2
Wiedemann, H.R.3
-
12
-
-
0343078427
-
-
Center for Medical Genetics, John Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD)
-
Online Mendelian Inheritance in Man, OMIM. 1998. http://www3. ncbi.nlm.nih.gov/Omim/searchOmim.html. Center for Medical Genetics, John Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD).
-
(1998)
-
-
-
13
-
-
0031717324
-
Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: Report of four cases and review of the literature
-
Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Ayme S, Philip N. 1998. Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. Am J Med Genet 80: 16-24.
-
(1998)
Am J Med Genet
, vol.80
, pp. 16-24
-
-
Sigaudy, S.1
Toutain, A.2
Moncla, A.3
Fredouille, C.4
Bourliere, B.5
Ayme, S.6
Philip, N.7
-
14
-
-
0026761534
-
Cephaloskeletal dysplasia and microcephalic osleodysplastic primordial dwarfism
-
Taybi H. 1992. Cephaloskeletal dysplasia and microcephalic osleodysplastic primordial dwarfism. Pediatr Radiol 22: 476.
-
(1992)
Pediatr Radiol
, vol.22
, pp. 476
-
-
Taybi, H.1
-
15
-
-
0000494869
-
Congenital familiar dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)
-
Taybi H, Linder D. 1967. Congenital familiar dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome). Radiology 89: 275-281.
-
(1967)
Radiology
, vol.89
, pp. 275-281
-
-
Taybi, H.1
Linder, D.2
|