Hyland V - Search Results

1

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F. Ruf RG, et al. Among authors: hyland v. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. doi: 10.1073/pnas.0308475101. Epub 2004 May 12. Proc Natl Acad Sci U S A. 2004. PMID: 15141091 Free PMC article.

2

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.

Ruf RG, Berkman J, Wolf MT, Nurnberg P, Gattas M, Ruf EM, Hyland V, Kromberg J, Glass I, Macmillan J, Otto E, Nurnberg G, Lucke B, Hennies HC, Hildebrandt F. Ruf RG, et al. Among authors: hyland v. J Med Genet. 2003 Jul;40(7):515-9. doi: 10.1136/jmg.40.7.515. J Med Genet. 2003. PMID: 12843324 Free PMC article. No abstract available.

3

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

Roscioli T, Flanagan S, Kumar P, Masel J, Gattas M, Hyland VJ, Glass IA. Roscioli T, et al. Among authors: hyland vj. Am J Med Genet. 2000 Jul 3;93(1):22-8. doi: 10.1002/1096-8628(20000703)93:1<22::aid-ajmg5>3.0.co;2-u. Am J Med Genet. 2000. PMID: 10861678 Review.

4

Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.

Roscioli T, Flanagan S, Mortimore RJ, Kumar P, Weedon D, Masel J, Lewandowski R, Hyland V, Glass IA. Roscioli T, et al. Among authors: hyland v. Am J Med Genet. 2001 Jul 1;101(3):187-94. doi: 10.1002/ajmg.1369. Am J Med Genet. 2001. PMID: 11424131

5

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.

Flanagan SF, Munns CF, Hayes M, Williams B, Berry M, Vickers D, Rao E, Rappold GA, Batch JA, Hyland VJ, Glass IA. Flanagan SF, et al. Among authors: hyland vj. J Med Genet. 2002 Oct;39(10):758-63. doi: 10.1136/jmg.39.10.758. J Med Genet. 2002. PMID: 12362035 Free PMC article. No abstract available.

6

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.

Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA. Hyland VJ, et al. Am J Med Genet A. 2003 Jul 15;120A(2):157-68. doi: 10.1002/ajmg.a.20012. Am J Med Genet A. 2003. PMID: 12833394

7

Height discordance in monozygotic females is not attributable to discordant inactivation of X-linked stature determining genes.

Healey SC, Kirk KM, Hyland VJ, Munns CF, Henders AK, Batch JA, Heath AC, Martin NG, Glass IA. Healey SC, et al. Among authors: hyland vj. Twin Res. 2001 Feb;4(1):19-24. doi: 10.1375/1369052012100. Twin Res. 2001. PMID: 11665320

8

Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency.

Munns CF, Berry M, Vickers D, Rappold GA, Hyland VJ, Glass IA, Batch JA. Munns CF, et al. Among authors: hyland vj. J Pediatr Endocrinol Metab. 2003 Sep;16(7):997-1004. doi: 10.1515/jpem.2003.16.7.997. J Pediatr Endocrinol Metab. 2003. PMID: 14513876 Clinical Trial.

9

Familial growth and skeletal features associated with SHOX haploinsufficiency.

Munns CF, Glass IA, Flanagan S, Hayes M, Williams B, Berry M, Vickers D, O'Rourke P, Rao E, Rappold GA, Hyland VJ, Batch JA. Munns CF, et al. Among authors: hyland vj. J Pediatr Endocrinol Metab. 2003 Sep;16(7):987-96. doi: 10.1515/jpem.2003.16.7.987. J Pediatr Endocrinol Metab. 2003. PMID: 14513875

10

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy): an Australian perspective.

Chuah TL, Tan KM, Flanagan S, Hyland V, Sullivan AA, Henderson R, MacMillan J, Lander C. Chuah TL, et al. Among authors: hyland v. J Clin Neurosci. 2001 Sep;8(5):404-6. doi: 10.1054/jocn.2000.0848. J Clin Neurosci. 2001. PMID: 11535004

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