PMC Articles for MedGen (Select 82694) - PMC

Select item 95926531.

Sweet-Syndrom des Kindesalters mit erworbener Cutis laxa (Marshall-Syndrom) als Erstmanifestation einer Takayasu-Arteriitis

Christiane Michl, Regina Hühn, Cord Sunderkötter

Dermatologie (Heidelb) 2022; 73(11): 884–890. German. Published online 2022 Jul 15. doi: 10.1007/s00105-022-04999-2

PMCID:: PMC9592653

Article PDF–2.2M

Select item 55910892.

Marshall syndrome in a young child, a reality: Case report

Laura Mihaela Trandafir, Madalina Ionela Chiriac, Smaranda Diaconescu, Ileana Ioniuc, Ingrith Miron, Daniel Rusu

Medicine (Baltimore) 2016 Nov; 95(44): e5065. Published online 2016 Nov 4. doi: 10.1097/MD.0000000000005065

PMCID:: PMC5591089

Article PDF–171K

Select item 13770293.

Marshall syndrome associated with a splicing defect at the COL11A1 locus.

A J Griffith, L K Sprunger, D A Sirko-Osadsa, G E Tiller, M H Meisler, M L Warman

Am J Hum Genet. 1998 Apr; 62(4): 816–823. doi: 10.1086/301789

PMCID:: PMC1377029

Summary PDF–1.0M

Select item 12882684.

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Susanna Annunen, Jarmo Körkkö, Malwina Czarny, Matthew L. Warman, Han G. Brunner, Helena Kääriäinen, John B. Mulliken, Lisbeth Tranebjærg, David G. Brooks, Gerald F. Cox, Johan R. Cruysberg, Mary A. Curtis, Sandra L. H. Davenport, Christopher A. Friedrich, Ilkka Kaitila, Maciej Robert Krawczynski, Anna Latos-Bielenska, Shitzuo Mukai, Björn R. Olsen, Nancy Shinno, Mirja Somer, Miikka Vikkula, Joel Zlotogora, Darwin J. Prockop, Leena Ala-Kokko

Am J Hum Genet. 1999 Oct; 65(4): 974–983. Published online 1999 Sep 14. doi: 10.1086/302585

PMCID:: PMC1288268

Article PDF–569K

Select item 10458835.

Marshall syndrome: a condition resembling congenital syphilis.

B A Onile, A Rotowa, A O Osoba, O K Alausa

Br J Vener Dis. 1981 Apr; 57(2): 100–102. doi: 10.1136/sti.57.2.100

PMCID:: PMC1045883

Summary Page Browse PDF–603K

Select item 55740946.

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature

Yousuke Higuchi, Kosei Hasegawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara

J Med Case Rep. 2017; 11: 237. Published online 2017 Aug 26. doi: 10.1186/s13256-017-1396-y

PMCID:: PMC5574094

Article PDF–2.2M

Select item 36527767.

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)

Raymon Vijzelaar, Sarah Waller, Abdellatif Errami, Alan Donaldson, Teresa Lourenco, Marcia Rodrigues, Vivienne McConnell, Gregory Fincham, Martin Snead, Allan Richards

BMC Med Genet. 2013; 14: 48. Published online 2013 Apr 26. doi: 10.1186/1471-2350-14-48