Spranger J - Search Results

1

Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

Spranger J, Hinkel GK, Stöss H, Thoenes W, Wargowski D, Zepp F. Spranger J, et al. J Pediatr. 1991 Jul;119(1 Pt 1):64-72. doi: 10.1016/s0022-3476(05)81040-6. J Pediatr. 1991. PMID: 2066860

2

Omenn phenotype with short-limbed dwarfism.

Schofer O, Blaha I, Mannhardt W, Zepp F, Stallmach T, Spranger J. Schofer O, et al. Among authors: spranger j. J Pediatr. 1991 Jan;118(1):86-9. doi: 10.1016/s0022-3476(05)81853-0. J Pediatr. 1991. PMID: 1986108 No abstract available.

3

Clinical and ultrastructural findings in three patients with geleophysic dysplasia.

Pontz BF, Stöss H, Henschke F, Freisinger P, Karbowski A, Spranger J. Pontz BF, et al. Among authors: spranger j. Am J Med Genet. 1996 May 3;63(1):50-4. doi: 10.1002/(SICI)1096-8628(19960503)63:1<50::AID-AJMG11>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8723086

4

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.

Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A. Zabel B, et al. Among authors: spranger j. Am J Med Genet. 1996 May 3;63(1):123-8. doi: 10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8723097

5

Sponastrime dysplasia. A radiologic-pathologic correlation.

Lachman RS, Stoss H, Spranger J. Lachman RS, et al. Among authors: spranger j. Pediatr Radiol. 1989;19(6-7):417-24. doi: 10.1007/BF02387640. Pediatr Radiol. 1989. PMID: 2771481

6

Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia.

Stöss H, Pesch HJ, Pontz B, Otten A, Spranger J. Stöss H, et al. Among authors: spranger j. Eur J Pediatr. 1982 Mar;138(2):120-9. doi: 10.1007/BF00441137. Eur J Pediatr. 1982. PMID: 7094931

7

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

Boerkoel CF, O'Neill S, André JL, Benke PJ, Bogdanovíć R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Fründ S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormälä T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R. Boerkoel CF, et al. Among authors: spranger j. Eur J Pediatr. 2000 Jan-Feb;159(1-2):1-7. doi: 10.1007/s004310050001. Eur J Pediatr. 2000. PMID: 10653321

8

Heterogeneity in osteogenesis imperfecta: clinical and morphological findings.

Pontz BF, Stöss H, Spranger J. Pontz BF, et al. Among authors: spranger j. Ann N Y Acad Sci. 1988;543:30-9. doi: 10.1111/j.1749-6632.1988.tb55313.x. Ann N Y Acad Sci. 1988. PMID: 3214051 No abstract available.

9

Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies.

Opitz JM, Spranger JW, Stöss HR, Pesch HJ, Azadeh B. Opitz JM, et al. Among authors: spranger jw. Am J Med Genet. 1987 Mar;26(3):583-90. doi: 10.1002/ajmg.1320260312. Am J Med Genet. 1987. PMID: 3565474

10

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

Winterpacht A, Superti-Furga A, Schwarze U, Stöss H, Steinmann B, Spranger J, Zabel B. Winterpacht A, et al. Among authors: spranger j. J Med Genet. 1996 Aug;33(8):649-54. doi: 10.1136/jmg.33.8.649. J Med Genet. 1996. PMID: 8863156 Free PMC article.

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