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1997
2025

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Page 1
A case of Marshall's syndrome and review of the literature.
Çalışkan E, Açıkgöz G, Yeniay Y, Özmen İ, Gamsızkan M, Akar A. Çalışkan E, et al. Int J Dermatol. 2015 Jun;54(6):e217-21. doi: 10.1111/ijd.12471. Epub 2014 Sep 10. Int J Dermatol. 2015. PMID: 25208889 Review. No abstract available.
The Marshall syndrome: report of a new family and review of the literature.
Shanske AL, Bogdanow A, Shprintzen RJ, Marion RW. Shanske AL, et al. Am J Med Genet. 1997 May 2;70(1):52-7. doi: 10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w. Am J Med Genet. 1997. PMID: 9129742 Review.
The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. ...We present a family in which six members in four generations are affected with apparent …
The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial …
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H. Higuchi Y, et al. J Med Case Rep. 2017 Aug 26;11(1):237. doi: 10.1186/s13256-017-1396-y. J Med Case Rep. 2017. PMID: 28841907 Free PMC article. Review.
Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome. ...Radiographs showed mild spondyloepiphyseal dysplasia. Initially, we suspected …
Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A …
Acquired cutis laxa: a clinical review.
Khodeir J, Ohanian P, Feghali J. Khodeir J, et al. Int J Dermatol. 2024 Oct;63(10):1334-1356. doi: 10.1111/ijd.17338. Epub 2024 Jun 25. Int J Dermatol. 2024. PMID: 38924070
[Marshall syndrome].
Saitoh S. Saitoh S. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):209-10. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057199 Review. Japanese. No abstract available.
[Osteochondrodysplasia determined genetically by a collagen type II gene mutation].
Czarny-Ratajczak M, Rogala P, Wolnik-Brzozowska D, Latos-Bieleńska A. Czarny-Ratajczak M, et al. Chir Narzadow Ruchu Ortop Pol. 2001;66(1):79-86. Chir Narzadow Ruchu Ortop Pol. 2001. PMID: 11481990 Review. Polish.
Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through severe forms like spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia congenita, Marshall syndrome, to th …
Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through …