Kannu P - Search Results

1

Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?

Damseh N, Stimec J, O'Brien A, Marshall C, Savarirayan R, Jawad A, Laxer R, Kannu P. Damseh N, et al. Among authors: kannu p. Orphanet J Rare Dis. 2019 Jun 27;14(1):156. doi: 10.1186/s13023-019-1138-x. Orphanet J Rare Dis. 2019. PMID: 31248428 Free PMC article. Review.

2

Medial temporal lobe dysgenesis in hypochondroplasia.

Kannu P, Hayes IM, Mandelstam S, Donnan L, Savarirayan R. Kannu P, et al. Am J Med Genet A. 2005 Nov 1;138(4):389-91. doi: 10.1002/ajmg.a.30974. Am J Med Genet A. 2005. PMID: 16222682

3

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

Kannu P, Savarirayan R, Ozoemena L, White SM, McGrath JA. Kannu P, et al. Am J Med Genet A. 2006 Apr 15;140(8):887-91. doi: 10.1002/ajmg.a.31187. Am J Med Genet A. 2006. PMID: 16532463

4

Lethal metatropic dysplasia: a case report.

Kumar B, Kannu P, Savarirayan R, Chan Y. Kumar B, et al. Among authors: kannu p. Pathology. 2007 Feb;39(1):177-81. doi: 10.1080/00313020601123854. Pathology. 2007. PMID: 17365839 No abstract available.

5

Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history.

Kannu P, Aftimos S, Mayne V, Donnan L, Savarirayan R. Kannu P, et al. Am J Med Genet A. 2007 Nov 1;143A(21):2512-22. doi: 10.1002/ajmg.a.31941. Am J Med Genet A. 2007. PMID: 17879966

6

An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.

Kannu P, McFarlane JH, Savarirayan R, Aftimos S. Kannu P, et al. Am J Med Genet A. 2007 Nov 1;143A(21):2607-11. doi: 10.1002/ajmg.a.31989. Am J Med Genet A. 2007. PMID: 17935248

7

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia.

Coman D, Bostock D, Hunter M, Kannu P, Irving M, Mayne V, Fietz M, Jaeken J, Savarirayan R. Coman D, et al. Among authors: kannu p. Am J Med Genet A. 2008 Feb 1;146A(3):389-92. doi: 10.1002/ajmg.a.32119. Am J Med Genet A. 2008. PMID: 18203160 No abstract available.

8

The skeletal manifestations of the congenital disorders of glycosylation.

Coman D, Irving M, Kannu P, Jaeken J, Savarirayan R. Coman D, et al. Among authors: kannu p. Clin Genet. 2008 Jun;73(6):507-15. doi: 10.1111/j.1399-0004.2008.01015.x. Epub 2008 May 6. Clin Genet. 2008. PMID: 18462449 Review.

9

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. Among authors: kannu p. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223

10

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis.

Kannu P, Bateman JF, Belluoccio D, Fosang AJ, Savarirayan R. Kannu P, et al. Arthritis Rheum. 2009 Feb;60(2):325-34. doi: 10.1002/art.24251. Arthritis Rheum. 2009. PMID: 19180483 Free article. Review. No abstract available.

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