PubMed (cited) for id: 156232

Year	Number of Results
1983	1
1992	1
1997	2
1998	1
2004	3
2008	1
2010	3
2024	0

1

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Kantaputra PN, Klopocki E, Hennig BP, Praphanphoj V, Le Caignec C, Isidor B, Kwee ML, Shears DJ, Mundlos S. Kantaputra PN, et al. Eur J Hum Genet. 2010 Dec;18(12):1310-4. doi: 10.1038/ejhg.2010.116. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648051 Free PMC article.

2

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

Isidor B, Pichon O, Redon R, Day-Salvatore D, Hamel A, Siwicka KA, Bitner-Glindzicz M, Heymann D, Kjellén L, Kraus C, Leroy JG, Mortier GR, Rauch A, Verloes A, David A, Le Caignec C. Isidor B, et al. Am J Hum Genet. 2010 Jul 9;87(1):95-100. doi: 10.1016/j.ajhg.2010.05.012. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602915 Free PMC article.

3

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.

Cho TJ, Kim OH, Choi IH, Nishimura G, Superti-Furga A, Kim KS, Lee YJ, Park WY. Cho TJ, et al. J Med Genet. 2010 Sep;47(9):638-9. doi: 10.1136/jmg.2009.074690. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577005

4

A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach.

Siwicka KA, Kitoh H, Nishiyama M, Ishiguro N. Siwicka KA, et al. J Pediatr Orthop B. 2008 Sep;17(5):271-6. doi: 10.1097/BPB.0b013e32830cc3c8. J Pediatr Orthop B. 2008. PMID: 19471182

5

Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation.

Kwee ML, van de Sluijs JA, van Vugt JM, Wijnaendts LC, Gille JJ. Kwee ML, et al. Am J Med Genet A. 2004 Aug 1;128A(4):404-9. doi: 10.1002/ajmg.a.30120. Am J Med Genet A. 2004. PMID: 15264287

6

Kantaputra mesomelic dysplasia: a second reported family.

Shears DJ, Offiah A, Rutland P, Sirimanna T, Bitner-Glindzicz M, Hall C. Shears DJ, et al. Am J Med Genet A. 2004 Jul 1;128A(1):6-11. doi: 10.1002/ajmg.a.20640. Am J Med Genet A. 2004. PMID: 15211647

7

Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al.

Kantaputra PN. Kantaputra PN. Am J Med Genet A. 2004 Jul 1;128A(1):1-5. doi: 10.1002/ajmg.a.20642. Am J Med Genet A. 2004. PMID: 15211646 No abstract available.

8

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

Fujimoto M, Kantaputra PN, Ikegawa S, Fukushima Y, Sonta S, Matsuo M, Ishida T, Matsumoto T, Kondo S, Tomita H, Deng HX, D'urso M, Rinaldi MM, Ventruto V, Takagi T, Nakamura Y, Niikawa N. Fujimoto M, et al. J Hum Genet. 1998;43(1):32-6. doi: 10.1007/s100380050033. J Hum Genet. 1998. PMID: 9609995

9

Ulnaless (Ul), a regulatory mutation inducing both loss-of-function and gain-of-function of posterior Hoxd genes.

Hérault Y, Fraudeau N, Zákány J, Duboule D. Hérault Y, et al. Development. 1997 Sep;124(18):3493-500. doi: 10.1242/dev.124.18.3493. Development. 1997. PMID: 9342042

10

The mouse Ulnaless mutation deregulates posterior HoxD gene expression and alters appendicular patterning.

Peichel CL, Prabhakaran B, Vogt TF. Peichel CL, et al. Development. 1997 Sep;124(18):3481-92. doi: 10.1242/dev.124.18.3481. Development. 1997. PMID: 9342041

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

12 results

Results by year