Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1958 1
1965 1
1987 1
1988 2
1992 1
1994 1
1995 4
1996 1
1997 1
1998 2
1999 2
2001 1
2024 0

Text availability

Article attribute

Article type

Publication date

PubMed (OMIM) for id: 347615

18 results

Results by year

Filters applied: . Clear all
Page 1
HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.
STICKLER GB, BELAU PG, FARRELL FJ, JONES JD, PUGH DG, STEINBERG AG, WARD LE. STICKLER GB, et al. Mayo Clin Proc. 1965 Jun;40:433-55. Mayo Clin Proc. 1965. PMID: 14299791 No abstract available.
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Annunen S, et al. Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585. Am J Hum Genet. 1999. PMID: 10486316 Free PMC article.
Marshall syndrome and a defect at the COL11A1 locus.
Shanske A, Bogdanow A, Shprintzen RJ, Marion RW. Shanske A, et al. Am J Hum Genet. 1998 Nov;63(5):1558-61. doi: 10.1086/302110. Am J Hum Genet. 1998. PMID: 9792885 Free PMC article. No abstract available.
18 results