Spranger J - Search Results

1

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

2

Grebe dysplasia and the spectrum of CDMP1 mutations.

Stelzer C, Winterpacht A, Spranger J, Zabel B. Stelzer C, et al. Among authors: spranger j. Pediatr Pathol Mol Med. 2003 Jan-Feb;22(1):77-85. doi: 10.1080/pdp.22.1.77.85. Pediatr Pathol Mol Med. 2003. PMID: 12687891

3

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.

Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A. Zankl A, et al. Among authors: spranger j. Am J Med Genet A. 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222. Am J Med Genet A. 2004. PMID: 15316962

4

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

5

An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.

Menger H, Mundlos S, Becker K, Spranger J, Zabel B. Menger H, et al. Among authors: spranger j. Am J Med Genet. 1996 May 3;63(1):80-3. doi: 10.1002/(SICI)1096-8628(19960503)63:1<80::AID-AJMG16>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723091

6

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.

7

Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.

Spranger J, Winterpacht A, Zabel B. Spranger J, et al. Am J Med Genet. 1997 Mar 3;69(1):79-84. doi: 10.1002/(sici)1096-8628(19970303)69:1<79::aid-ajmg15>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9066888

8

The type II collagenopathies: a spectrum of chondrodysplasias.

Spranger J, Winterpacht A, Zabel B. Spranger J, et al. Eur J Pediatr. 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208. Eur J Pediatr. 1994. PMID: 8157027 Review.

9

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.

Spranger J, Menger H, Mundlos S, Winterpacht A, Zabel B. Spranger J, et al. Pediatr Radiol. 1994;24(6):431-5. doi: 10.1007/BF02011911. Pediatr Radiol. 1994. PMID: 7700721

10

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.

Winterpacht A, Schwarze U, Mundlos S, Menger H, Spranger J, Zabel B. Winterpacht A, et al. Among authors: spranger j. Hum Mol Genet. 1994 Oct;3(10):1891-3. doi: 10.1093/hmg/3.10.1891. Hum Mol Genet. 1994. PMID: 7849719 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

608 results

Search Page