Hyland J - Search Results

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. Khalifa O, et al. Among authors: hyland j. J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. J Med Genet. 2012. PMID: 22499343 No abstract available.

2

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L. Baker S, et al. Am J Med Genet A. 2011 Jul;155A(7):1668-72. doi: 10.1002/ajmg.a.34071. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671392

3

Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.

Kannu P, O'Rielly DD, Hyland JC, Kokko LA. Kannu P, et al. Among authors: hyland jc. Am J Med Genet A. 2011 Jul;155A(7):1759-62. doi: 10.1002/ajmg.a.34056. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671384 No abstract available.

4

Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

Dwyer E, Hyland J, Modaff P, Pauli RM. Dwyer E, et al. Among authors: hyland j. Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. Am J Med Genet A. 2010. PMID: 21077202 Review.

5

COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.

Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya T, Nishimura G, Superti-Furga A, Unger S. Walter K, et al. Among authors: hyland j. Am J Med Genet A. 2007 Jan 15;143A(2):161-7. doi: 10.1002/ajmg.a.31516. Am J Med Genet A. 2007. PMID: 17163530

6

Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.

Li BC, Hogue J, Eilers M, Mehrotra P, Hyland J, Holm T, Prosen T, Slavotinek AM. Li BC, et al. Among authors: hyland j. Am J Med Genet A. 2013 Mar;161A(3):619-25. doi: 10.1002/ajmg.a.35792. Epub 2013 Feb 11. Am J Med Genet A. 2013. PMID: 23401428

7

A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis.

Sutton VR, Hyland JC, Phillips WA, Schlesinger AE, Brill PW. Sutton VR, et al. Am J Med Genet A. 2005 Mar 1;133A(2):209-12. doi: 10.1002/ajmg.a.30567. Am J Med Genet A. 2005. PMID: 15666313

8

Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.

Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V. Kochhar A, et al. Am J Med Genet A. 2013 Dec;161A(12):3130-2. doi: 10.1002/ajmg.a.36147. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214363

9

Ectopia lentis as the presenting and primary feature in Marfan syndrome.

Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Zadeh N, et al. Am J Med Genet A. 2011 Nov;155A(11):2661-8. doi: 10.1002/ajmg.a.34245. Epub 2011 Sep 19. Am J Med Genet A. 2011. PMID: 21932315

10

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

Regalado ES, Guo DC, Prakash S, Bensend TA, Flynn K, Estrera A, Safi H, Liang D, Hyland J, Child A, Arno G, Boileau C, Jondeau G, Braverman A, Moran R, Morisaki T, Morisaki H; Montalcino Aortic Consortium; Pyeritz R, Coselli J, LeMaire S, Milewicz DM. Regalado ES, et al. Among authors: hyland j. Circ Cardiovasc Genet. 2015 Jun;8(3):457-64. doi: 10.1161/CIRCGENETICS.114.000943. Epub 2015 Mar 10. Circ Cardiovasc Genet. 2015. PMID: 25759435 Free PMC article.

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