Kant SG - Search Results

1

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: kant sg. J Med Genet. 2008 Jun;45(6):346-54. doi: 10.1136/jmg.2007.055830. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178631

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

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.

4

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. de Bernabé DB, et al. J Med Genet. 2003 Nov;40(11):845-8. doi: 10.1136/jmg.40.11.845. J Med Genet. 2003. PMID: 14627679 Free PMC article. No abstract available.

5

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.

6

Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region.

Kant SG, van der Weij AM, Oostdijk W, Wit JM, Robinson DO, Temple IK, Mackay DJ. Kant SG, et al. Hum Genet. 2005 Aug;117(4):398-401. doi: 10.1007/s00439-005-1304-1. Epub 2005 May 28. Hum Genet. 2005. PMID: 15924231

7

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

8

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

9

A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.

Walenkamp MJ, van der Kamp HJ, Pereira AM, Kant SG, van Duyvenvoorde HA, Kruithof MF, Breuning MH, Romijn JA, Karperien M, Wit JM. Walenkamp MJ, et al. Among authors: kant sg. J Clin Endocrinol Metab. 2006 Aug;91(8):3062-70. doi: 10.1210/jc.2005-1597. Epub 2006 Jun 6. J Clin Endocrinol Metab. 2006. PMID: 16757531

10

Tall stature and duplication of the insulin-like growth factor I receptor gene.

Kant SG, Kriek M, Walenkamp MJ, Hansson KB, van Rhijn A, Clayton-Smith J, Wit JM, Breuning MH. Kant SG, et al. Eur J Med Genet. 2007 Jan-Feb;50(1):1-10. doi: 10.1016/j.ejmg.2006.03.005. Epub 2006 Sep 14. Eur J Med Genet. 2007. PMID: 17056309 Review.

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