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Items: 23

1.

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

van Trier DC, Rinne T, Noordam K, Draaisma JM, van der Burgt I.

Am J Med Genet A. 2017 Nov;173(11):2968-2972. doi: 10.1002/ajmg.a.38466. Epub 2017 Sep 8.

PMID:
28884940
2.

Benign course after acute high dose levothyroxine intoxication in a 3-year-old boy.

Hartman S, Noordam K, Maseland M, van Setten P.

Clin Pediatr Endocrinol. 2017;26(3):171-175. doi: 10.1297/cpe.26.171. Epub 2017 Jul 27.

3.

Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives.

Croonen EA, Harmsen M, Van der Burgt I, Draaisma JM, Noordam K, Essink M, Nijhuis-van der Sanden MW.

Am J Med Genet A. 2016 Sep;170(9):2349-56. doi: 10.1002/ajmg.a.37814. Epub 2016 Jun 24.

PMID:
27338165
4.

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N.

Eur J Hum Genet. 2011 Aug;19(8):870-4. doi: 10.1038/ejhg.2011.37. Epub 2011 Mar 16.

5.

Exercise training improves physical fitness and vascular function in children with type 1 diabetes.

Seeger JP, Thijssen DH, Noordam K, Cranen ME, Hopman MT, Nijhuis-van der Sanden MW.

Diabetes Obes Metab. 2011 Apr;13(4):382-4. doi: 10.1111/j.1463-1326.2011.01361.x.

PMID:
21226819
6.

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.

Jongmans MC, Hoogerbrugge PM, Hilkens L, Flucke U, van der Burgt I, Noordam K, Ruiterkamp-Versteeg M, Yntema HG, Nillesen WM, Ligtenberg MJ, van Kessel AG, Kuiper RP, Hoogerbrugge N.

Genes Chromosomes Cancer. 2010 Jul;49(7):635-41. doi: 10.1002/gcc.20773.

PMID:
20461756
7.

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births.

Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A, Mlynarski W, Malecki MT, Hattersley AT, Ellard S.

Diabetologia. 2009 Aug;52(8):1683-5. doi: 10.1007/s00125-009-1416-6. Epub 2009 Jun 5. No abstract available.

8.

Spinal stenosis with paraparesis in albright hereditary osteodystrophy. Case report and review of the literature.

van Lindert EJ, Bartels RH, Noordam K.

Pediatr Neurosurg. 2008;44(4):337-40. doi: 10.1159/000138373. Epub 2008 Jun 13. Review.

PMID:
18552518
9.

Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.

Slingerland AS, Hurkx W, Noordam K, Flanagan SE, Jukema JW, Meiners LC, Bruining GJ, Hattersley AT, Hadders-Algra M.

Diabet Med. 2008 Mar;25(3):277-81. doi: 10.1111/j.1464-5491.2007.02373.x.

PMID:
18307455
10.

Expanding the genetic spectrum of Noonan syndrome.

Noordam K.

Horm Res. 2007;68 Suppl 5:24-7. doi: 10.1159/000110468. Epub 2007 Dec 10. Review.

PMID:
18174700
11.

Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation.

Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A.

Am J Med Genet A. 2008 Feb 15;146A(4):496-9. doi: 10.1002/ajmg.a.32168.

PMID:
18203154
12.

Growth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence?

Besouw MT, Levtchenko EN, Willemsen MA, Noordam K.

Pediatr Nephrol. 2008 Feb;23(2):307-10. Epub 2007 Jul 19.

13.

High serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) during high-dose GH treatment in short children born small for gestational age.

van Dijk M, Mulder P, Houdijk M, Mulder J, Noordam K, Odink RJ, Rongen-Westerlaken C, Voorhoeve P, Waelkens J, Stokvis-Brantsma J, Hokken-Koelega A.

J Clin Endocrinol Metab. 2006 Apr;91(4):1390-6. Epub 2006 Feb 7.

PMID:
16464954
14.

Absence of increased height velocity in the first year of life in untreated children with simple virilizing congenital adrenal hyperplasia.

Claahsen-van der Grinten HL, Noordam K, Borm GF, Otten BJ.

J Clin Endocrinol Metab. 2006 Apr;91(4):1205-9. Epub 2006 Feb 7.

PMID:
16464952
15.

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

Jongmans M, Sistermans EA, Rikken A, Nillesen WM, Tamminga R, Patton M, Maier EM, Tartaglia M, Noordam K, van der Burgt I.

Am J Med Genet A. 2005 Apr 15;134A(2):165-70.

PMID:
15723289
16.

A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations.

Vallette-Kasic S, Pulichino AM, Gueydan M, Barlier A, David M, Malpuech G, Deal C, Van Vliet G, de Vroede M, Riepe F, Partsch CJ, Sippell W, Berberoglu M, Atasay B, de Zegher F, Kyllo J, Donohoue P, Dechelotte P, Fassnacht M, Noordam K, Dunkel L, Pigeon B, Weill J, Yigit S, Brauner R, Leger J, Heinrich JJ, Enjalbert A, Brue T, Drouin J.

Endocr Res. 2004 Nov;30(4):943-4. No abstract available.

PMID:
15666849
17.

Genetics and variation in phenotype in Noonan syndrome.

Jongmans M, Otten B, Noordam K, van der Burgt I.

Horm Res. 2004;62 Suppl 3:56-9.

PMID:
15539800
18.
19.

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.

Gloyn AL, Noordam K, Willemsen MA, Ellard S, Lam WW, Campbell IW, Midgley P, Shiota C, Buettger C, Magnuson MA, Matschinsky FM, Hattersley AT.

Diabetes. 2003 Sep;52(9):2433-40.

20.

The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatment.

Noordam K, van der Burgt I, Brunner HG, Otten BJ.

J Pediatr Endocrinol Metab. 2002 Feb;15(2):175-80.

PMID:
11874182
21.

High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia.

Stikkelbroeck NM, Otten BJ, Pasic A, Jager GJ, Sweep CG, Noordam K, Hermus AR.

J Clin Endocrinol Metab. 2001 Dec;86(12):5721-8.

PMID:
11739428
22.

Newborn screening for congenital adrenal hyperplasia in the Netherlands.

Van der Kamp HJ, Noordam K, Elvers B, Van Baarle M, Otten BJ, Verkerk PH.

Pediatrics. 2001 Dec;108(6):1320-4.

PMID:
11731654
23.

Necessary practical treatment of cystinuria at night.

Monnens LA, Noordam K, Trijbels F.

Pediatr Nephrol. 2000 Oct;14(12):1148-9. No abstract available.

PMID:
11045403

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