Hyland VJ - Search Results

1

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

2

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

3

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.

4

Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate.

Munns CF, Glass IA, LaBrom R, Hayes M, Flanagan S, Berry M, Hyland VJ, Batch JA, Philips GE, Vickers D. Munns CF, et al. Among authors: hyland vj. Hand Surg. 2001 Jul;6(1):13-23. doi: 10.1142/s0218810401000424. Hand Surg. 2001. PMID: 11677662

5

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

6

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. Am J Med Genet. 2001 Jul 1;101(3):187-94. doi: 10.1002/ajmg.1369. Am J Med Genet. 2001. PMID: 11424131

7

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.

8

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.

9

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. 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.

10

Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.

Mason JA, Aung HT, Nandini A, Woods RG, Fairbairn DJ, Rowell JA, Young D, Susman RD, Brown SA, Hyland VJ, Robertson JD. Mason JA, et al. Among authors: hyland vj. Mol Genet Genomic Med. 2018 May;6(3):357-369. doi: 10.1002/mgg3.378. Epub 2018 Feb 28. Mol Genet Genomic Med. 2018. PMID: 29490426 Free PMC article.

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