Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

113 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ. Sun Y, et al. Among authors: kant sg. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143598 Free PMC article.
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.
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.
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
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
Radiographic evaluation of children with growth disorders.
Kant SG, Grote F, de Ru MH, Oostdijk W, Zonderland HM, Breuning MH, Wit JM. Kant SG, et al. Horm Res. 2007;68(6):310-5. doi: 10.1159/000108399. Epub 2007 Sep 17. Horm Res. 2007. PMID: 17873493 Review.
113 results