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Journal Abstract Search

158 related items for PubMed ID: 22499343

  • 1. A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
    Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M.
    J Med Genet; 2012 Apr; 49(4):246-8. PubMed ID: 22499343
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  • 2. Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.
    Janssen EJM, Stegmann APA, Stumpel CTRM.
    Clin Dysmorphol; 2021 Jan; 30(1):58-61. PubMed ID: 32897902
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  • 3. [Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].
    Sakka R, Kerkeni E, Chaabouni M, Chioukh FZ, Ben Amor S, M'rad R, Ben Yahia S, Chaabouni H, Monastiri K.
    Tunis Med; 2015 Mar; 93(3):170-4. PubMed ID: 26367406
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  • 4. Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.
    Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA.
    Am J Med Genet A; 2014 Oct; 164A(10):2601-6. PubMed ID: 25073711
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  • 8. Growing up with Marshall syndrome: A case report from infancy to age 12.5 years.
    Harris SR.
    Am J Med Genet A; 2024 Apr; 194(4):e63488. PubMed ID: 38062645
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  • 10. Congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype.
    Imamoglu S, Kaya V, Imamoglu EY, Gok K.
    Indian J Ophthalmol; 2016 Nov; 64(11):856-859. PubMed ID: 27958215
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  • 16. Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.
    Boysen KB, Tümer Z, Bach-Holm D, Bisgaard AM, Kessel L.
    Ophthalmic Genet; 2024 Jun; 45(3):313-318. PubMed ID: 38299479
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  • 17. A Review and Proposed Approach to the Neutrophilic Dermatoses of Childhood.
    Webb K, Hlela C, Jordaan HF, Suliman S, Scriba T, Lipsker D, Scott C.
    Pediatr Dermatol; 2015 Jun; 32(4):437-46. PubMed ID: 25727235
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  • 20. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
    Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ.
    Mol Genet Genomics; 2015 Aug; 290(4):1327-34. PubMed ID: 25633957
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