Kant SG - Search Results

1

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Gijsbers AC, Lew JY, Bosch CA, Schuurs-Hoeijmakers JH, van Haeringen A, den Hollander NS, Kant SG, Bijlsma EK, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: kant sg. Eur J Hum Genet. 2009 Nov;17(11):1394-402. doi: 10.1038/ejhg.2009.74. Epub 2009 May 13. Eur J Hum Genet. 2009. PMID: 19436329 Free PMC article.

2

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

Kant SG, Van Haeringen A, Bakker E, Stec I, Donnai D, Mollevanger P, Beverstock GC, Lindeman-Kusse MC, Van Ommen GJ. Kant SG, et al. J Med Genet. 1997 Jul;34(7):569-72. doi: 10.1136/jmg.34.7.569. J Med Genet. 1997. PMID: 9222965 Free PMC article.

3

Severe cardiac defect in a patient with the OEIS complex.

Kant SG, Bartelings MM, Kibbelaar RE, Van Haeringen A. Kant SG, et al. Clin Dysmorphol. 1997 Oct;6(4):371-4. doi: 10.1097/00019605-199710000-00012. Clin Dysmorphol. 1997. PMID: 9354848

4

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML. Kant SG, et al. Am J Hum Genet. 1998 Jul;63(1):155-62. doi: 10.1086/301917. Am J Hum Genet. 1998. PMID: 9634515 Free PMC article.

5

The Catel-Manzke syndrome in a female infant.

Kant SG, Oudshoorn A, Gi CV, Zonderland HM, Van Haeringen A. Kant SG, et al. Genet Couns. 1998;9(3):187-90. Genet Couns. 1998. PMID: 9777339

6

Genetic analysis of short stature.

Kant SG, Wit JM, Breuning MH. Kant SG, et al. Horm Res. 2003;60(4):157-65. doi: 10.1159/000073226. Horm Res. 2003. PMID: 14530602 Review.

7

Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.

Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH. Hendriks YM, et al. Among authors: kant sg. Fam Cancer. 2003;2(2):79-85. doi: 10.1023/a:1025713815924. Fam Cancer. 2003. PMID: 14574156

8

Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM. de Boer L, et al. Among authors: kant sg. Horm Res. 2004;62(4):197-207. doi: 10.1159/000081063. Epub 2004 Sep 24. Horm Res. 2004. PMID: 15452385 Free article.

9

Genetic analysis of tall stature.

Kant SG, Wit JM, Breuning MH. Kant SG, et al. Horm Res. 2005;64(3):149-56. doi: 10.1159/000088589. Epub 2005 Sep 27. Horm Res. 2005. PMID: 16192740

10

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C. Kriek M, et al. Among authors: kant sg. Hum Genet. 2006 Aug;120(1):77-84. doi: 10.1007/s00439-006-0185-2. Epub 2006 May 18. Hum Genet. 2006. PMID: 16708226

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

113 results

Search Page

Filters