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Items: 1 to 50 of 141

1.

A proposal for the interpretation of the serum IGF-I concentration as part of laboratory screening in children with growth failure

Wit JM, Bidlingmaier M, de Bruin C, Oostdijk W.

J Clin Res Pediatr Endocrinol. 2019 Dec 17. doi: 10.4274/jcrpe.galenos.2019.2019.0176. [Epub ahead of print]

2.

IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction.

Joustra SD, Roelfsema F, van Trotsenburg ASP, Schneider HJ, Kosilek RP, Kroon HM, Logan JG, Butterfield NC, Zhou X, Toufaily C, Bak B, Turgeon MO, Brûlé E, Steyn FJ, Gurnell M, Koulouri O, Le Tissier P, Fontanaud P, Duncan Bassett JH, Williams GR, Oostdijk W, Wit JM, Pereira AM, Biermasz NR, Bernard DJ, Schoenmakers N.

J Clin Endocrinol Metab. 2019 Oct 25. pii: dgz093. doi: 10.1210/clinem/dgz093. [Epub ahead of print]

PMID:
31650157
3.

IGF-1 and IGF-1 SDS - fit for purpose?

Kos S, Cobbaert CM, Kuijper TM, Oostdijk W, Hannema SE, Wit JM, Biermasz N, Ballieux BEPB.

Eur J Endocrinol. 2019 Nov;181(5):L1-L4. doi: 10.1530/EJE-19-0458. No abstract available.

PMID:
31505458
4.

Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician.

Lauffer P, Kamp GA, Menke LA, Wit JM, Oostdijk W; on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children.

Horm Res Paediatr. 2019;91(5):293-310. doi: 10.1159/000500810. Epub 2019 Jul 12.

5.

Towards a Rational and Efficient Diagnostic Approach in Children Referred for Growth Failure to the General Paediatrician.

Wit JM, Kamp GA, Oostdijk W; on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children.

Horm Res Paediatr. 2019;91(4):223-240. doi: 10.1159/000499915. Epub 2019 Jun 13.

6.

Letter to the Editor: "Algorithms to Define Abnormal Growth in Children: External Validation and Head-to-Head Comparison".

Wit JM, van Dommelen P, Oostdijk W.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3415-3416. doi: 10.1210/jc.2019-00468. No abstract available.

PMID:
30896773
7.

Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor.

Walenkamp MJE, Robers JML, Wit JM, Zandwijken GRJ, van Duyvenvoorde HA, Oostdijk W, Hokken-Koelega ACS, Kant SG, Losekoot M.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3157-3171. doi: 10.1210/jc.2018-02065.

PMID:
30848790
8.

Relation between Early Over- and Undertreatment and Behavioural Problems in Preadolescent Children with Congenital Hypothyroidism.

Bongers-Schokking JJ, Resing WCM, Oostdijk W, de Rijke YB, de Muinck Keizer-Schrama SMPF.

Horm Res Paediatr. 2018;90(4):247-256. doi: 10.1159/000494056. Epub 2018 Nov 8.

9.

A mathematical model for predicting the adult height of girls with idiopathic central precocious puberty: A European validation.

Lemaire P, Duhil de Bénazé G, Mul D, Heger S, Oostdijk W, Brauner R.

PLoS One. 2018 Oct 9;13(10):e0205318. doi: 10.1371/journal.pone.0205318. eCollection 2018.

10.

Management and consequences of postoperative fluctuations in plasma sodium concentration after pediatric brain tumor surgery in the sellar region: a national cohort analysis.

Kruis RWJ, Schouten-van Meeteren AYN, Finken MJJ, Oostdijk W, van Trotsenburg ASP, Boot AM, Claahsen-van der Grinten HL, van Lindert EJ, Han KS, Hoving EW, Michiels EMC, van Santen HM.

Pituitary. 2018 Aug;21(4):384-392. doi: 10.1007/s11102-018-0886-2.

11.

Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal.

Kranenburg LJC, Reerds STH, Cools M, Alderson J, Muscarella M, Magrite E, Kuiper M, Abdelgaffar S, Balsamo A, Brauner R, Chanoine JP, Deeb A, Fechner P, German A, Holterhus PM, Juul A, Mendonca BB, Neville K, Nordenstrom A, Oostdijk W, Rey RA, Rutter MM, Shah N, Luo X, Grijpink K, Drop SLS.

Horm Res Paediatr. 2017;88(2):127-139. doi: 10.1159/000475992. Epub 2017 Jul 7.

PMID:
28689203
12.

Pituitary Adenoma Apoplexy in an Adolescent: A Case Report and Review of the Literature.

Zijlker H, Schagen S, Wit JM, Biermasz N, van Furth W, Oostdijk W.

J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):265-273. doi: 10.4274/jcrpe.4420. Epub 2017 Jun 7.

13.

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome.

de Graaf M, Kant SG, Wit JM, Willem Redeker EJ, Eduard Santen GW, Henriëtta Verkerk AJM, Uitterlinden AG, Losekoot M, Oostdijk W.

J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):366-370. doi: 10.4274/jcrpe.4349. Epub 2017 Jun 7.

14.

Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.

Bertko E, Klammt J, Dusatkova P, Bahceci M, Gonc N, Ten Have L, Kandemir N, Mansmann G, Obermannova B, Oostdijk W, Pfäffle H, Rockstroh-Lippold D, Schlicke M, Tuzcu AK, Pfäffle R.

J Hum Genet. 2017 Aug;62(8):755-762. doi: 10.1038/jhg.2017.34. Epub 2017 Mar 30.

15.

Mutations in TBL1X Are Associated With Central Hypothyroidism.

Heinen CA, Losekoot M, Sun Y, Watson PJ, Fairall L, Joustra SD, Zwaveling-Soonawala N, Oostdijk W, van den Akker EL, Alders M, Santen GW, van Rijn RR, Dreschler WA, Surovtseva OV, Biermasz NR, Hennekam RC, Wit JM, Schwabe JW, Boelen A, Fliers E, van Trotsenburg AS.

J Clin Endocrinol Metab. 2016 Dec;101(12):4564-4573. Epub 2016 Sep 7.

16.

Vitamin D Deficiency in Pediatric Fracture Patients: Prevalence, Risk Factors, and Vitamin D Supplementation.

Gorter EA, Oostdijk W, Felius A, Krijnen P, Schipper IB.

J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):445-451. doi: 10.4274/jcrpe.3474. Epub 2016 Aug 23.

17.

Individualized treatment to optimize eventual cognitive outcome in congenital hypothyroidism.

Bongers-Schokking JJ, Resing WC, Oostdijk W, de Rijke YB, de Muinck Keizer-Schrama SM.

Pediatr Res. 2016 Dec;80(6):816-823. doi: 10.1038/pr.2016.159. Epub 2016 Aug 5.

PMID:
27494505
18.

A Human Variant of Glucose-Regulated Protein 94 That Inefficiently Supports IGF Production.

Marzec M, Hawkes CP, Eletto D, Boyle S, Rosenfeld R, Hwa V, Wit JM, van Duyvenvoorde HA, Oostdijk W, Losekoot M, Pedersen O, Yeap BB, Flicker L, Barzilai N, Atzmon G, Grimberg A, Argon Y.

Endocrinology. 2016 May;157(5):1914-28. doi: 10.1210/en.2015-2058. Epub 2016 Mar 16.

19.

Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density.

Hannema SE, Wit JM, Houdijk ME, van Haeringen A, Bik EC, Verkerk AJ, Uitterlinden AG, Kant SG, Oostdijk W, Bakker E, Delemarre-van de Waal HA, Losekoot M.

Horm Res Paediatr. 2016;85(6):412-20. doi: 10.1159/000444055. Epub 2016 Mar 1.

20.

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.

Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz NR, Pereira AM, Oostdijk W; IGSF1 Clinical Care Group.

J Clin Endocrinol Metab. 2016 Apr;101(4):1627-36. doi: 10.1210/jc.2015-3880. Epub 2016 Feb 3. Erratum in: J Clin Endocrinol Metab. 2017 Jun 1;102(6):2125.

21.

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.

Van Hulle S, Craen M, Callewaert B, Joustra S, Oostdijk W, Losekoot M, Wit JM, Turgeon MO, Bernard DJ, De Schepper J.

J Clin Res Pediatr Endocrinol. 2016 Mar 5;8(1):86-91. doi: 10.4274/jcrpe.2512. Epub 2015 Dec 18.

22.

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.

Wit JM, Oostdijk W, Losekoot M, van Duyvenvoorde HA, Ruivenkamp CA, Kant SG.

Eur J Endocrinol. 2016 Apr;174(4):R145-73. doi: 10.1530/EJE-15-0937. Epub 2015 Nov 17. Review.

PMID:
26578640
23.

Mild deficits in attentional control in patients with the IGSF1 deficiency syndrome.

Joustra SD, Andela CD, Oostdijk W, van Trotsenburg AS, Fliers E, Wit JM, Pereira AM, Middelkoop HA, Biermasz NR.

Clin Endocrinol (Oxf). 2016 Jun;84(6):896-903. doi: 10.1111/cen.12947. Epub 2015 Oct 15.

PMID:
26387489
24.

Dysglycaemia in small-for-gestational-age neonates: a matched case-control study in monochorionic twins.

de Bruin CD, van der Lugt NM, Visser R, Oostdijk W, van Zwet EW, Te Pas AB, Lopriore E.

J Matern Fetal Neonatal Med. 2016;29(13):2114-9. doi: 10.3109/14767058.2015.1076787. Epub 2015 Sep 12.

PMID:
26365253
25.

Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome.

Joustra SD, Roelfsema F, Endert E, Ballieux BE, van Trotsenburg AS, Fliers E, Corssmit EP, Bernard DJ, Oostdijk W, Wit JM, Pereira AM, Biermasz NR.

Neuroendocrinology. 2016;103(3-4):408-16. doi: 10.1159/000439433. Epub 2015 Aug 25.

PMID:
26336917
26.

The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects.

Donze SH, Meijer CR, Kant SG, Zandwijken GR, van der Hout AH, van Spaendonk RM, van den Ouweland AM, Wit JM, Losekoot M, Oostdijk W.

Eur J Endocrinol. 2015 Nov;173(5):611-21. doi: 10.1530/EJE-15-0451. Epub 2015 Aug 11.

PMID:
26264720
27.

Metabolic Health in Short Children Born Small for Gestational Age Treated With Growth Hormone and Gonadotropin-Releasing Hormone Analog: Results of a Randomized, Dose-Response Trial.

van der Steen M, Lem AJ, van der Kaay DC, Bakker-van Waarde WM, van der Hulst FJ, Neijens FS, Noordam C, Odink RJ, Oostdijk W, Schroor EJ, Westerlaken C, Hokken-Koelega AC.

J Clin Endocrinol Metab. 2015 Oct;100(10):3725-34. doi: 10.1210/jc.2015-2619. Epub 2015 Aug 10.

PMID:
26259134
28.

Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat.

Joustra SD, Meijer OC, Heinen CA, Mol IM, Laghmani el H, Sengers RM, Carreno G, van Trotsenburg AS, Biermasz NR, Bernard DJ, Wit JM, Oostdijk W, van Pelt AM, Hamer G, Wagenaar GT.

J Endocrinol. 2015 Sep;226(3):181-91. doi: 10.1530/JOE-15-0204. Epub 2015 Jul 10.

PMID:
26163525
29.

Novel approaches to short stature therapy.

Wit JM, Oostdijk W.

Best Pract Res Clin Endocrinol Metab. 2015 Jun;29(3):353-66. doi: 10.1016/j.beem.2015.01.003. Epub 2015 Feb 7. Review.

PMID:
26051296
30.

A novel variant of FGFR3 causes proportionate short stature.

Kant SG, Cervenkova I, Balek L, Trantirek L, Santen GW, de Vries MC, van Duyvenvoorde HA, van der Wielen MJ, Verkerk AJ, Uitterlinden AG, Hannema SE, Wit JM, Oostdijk W, Krejci P, Losekoot M.

Eur J Endocrinol. 2015 Jun;172(6):763-70. doi: 10.1530/EJE-14-0945. Epub 2015 Mar 16.

PMID:
25777271
31.

Bone mineral density in children and adolescents with Prader-Willi syndrome: a longitudinal study during puberty and 9 years of growth hormone treatment.

Bakker NE, Kuppens RJ, Siemensma EP, Tummers-de Lind van Wijngaarden RF, Festen DA, Bindels-de Heus GC, Bocca G, Haring DA, Hoorweg-Nijman JJ, Houdijk EC, Jira PE, Lunshof L, Odink RJ, Oostdijk W, Rotteveel J, Van Alfen AA, Van Leeuwen M, Van Wieringen H, Wegdam-den Boer ME, Zwaveling-Soonawala N, Hokken-Koelega AC.

J Clin Endocrinol Metab. 2015 Apr;100(4):1609-18. doi: 10.1210/jc.2014-4347. Epub 2015 Feb 10.

PMID:
25668198
32.

New reference charts for testicular volume in Dutch children and adolescents allow the calculation of standard deviation scores.

Joustra SD, van der Plas EM, Goede J, Oostdijk W, Delemarre-van de Waal HA, Hack WW, van Buuren S, Wit JM.

Acta Paediatr. 2015 Jun;104(6):e271-8. doi: 10.1111/apa.12972. Epub 2015 Mar 11.

PMID:
25664405
33.

PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.

Oostdijk W, Idkowiak J, Mueller JW, House PJ, Taylor AE, O'Reilly MW, Hughes BA, de Vries MC, Kant SG, Santen GW, Verkerk AJ, Uitterlinden AG, Wit JM, Losekoot M, Arlt W.

J Clin Endocrinol Metab. 2015 Apr;100(4):E672-80. doi: 10.1210/jc.2014-3556. Epub 2015 Jan 16.

34.

New insights into factors influencing adult height in short SGA children: Results of a large multicentre growth hormone trial.

Renes JS, Willemsen RH, Mulder JC, Bakker-van Waarde WM, Rotteveel J, Oostdijk W, Houdijk EC, Westerlaken C, Noordam C, Verrijn Stuart AA, Odink RJ, de Ridder MA, Hokken-Koelega AC.

Clin Endocrinol (Oxf). 2015 Jun;82(6):854-61. doi: 10.1111/cen.12677. Epub 2015 Feb 9.

PMID:
25409576
35.

IGSF1 variants in boys with familial delayed puberty.

Joustra SD, Wehkalampi K, Oostdijk W, Biermasz NR, Howard S, Silander TL, Bernard DJ, Wit JM, Dunkel L, Losekoot M.

Eur J Pediatr. 2015 May;174(5):687-92. doi: 10.1007/s00431-014-2445-9. Epub 2014 Oct 30.

PMID:
25354429
36.

Copy number variants in short children born small for gestational age.

Wit JM, van Duyvenvoorde HA, van Klinken JB, Caliebe J, Bosch CA, Lui JC, Gijsbers AC, Bakker E, Breuning MH, Oostdijk W, Losekoot M, Baron J, Binder G, Ranke MB, Ruivenkamp CA.

Horm Res Paediatr. 2014;82(5):310-8. doi: 10.1159/000367712. Epub 2014 Oct 8.

37.

[Neonatal screening for congenital hypothyroidism: more than 30 years of experience in the Netherlands].

Verkerk PH, van Trotsenburg AS, Hoorweg-Nijman JJ, Oostdijk W, van Tijn DA, Kempers MJ, van den Akker EL, Loeber JG, Elvers LH, Vulsma T.

Ned Tijdschr Geneeskd. 2014;158:A6564. Dutch.

PMID:
25248730
38.

Central 22q11.2 deletions.

Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14.

PMID:
25123976
39.

Ovarian insufficiency and pubertal development after hematopoietic stem cell transplantation in childhood.

Bresters D, Emons JA, Nuri N, Ball LM, Kollen WJ, Hannema SE, Bakker-Steeneveld JD, van der Bom JG, Oostdijk W.

Pediatr Blood Cancer. 2014 Nov;61(11):2048-53. doi: 10.1002/pbc.25162. Epub 2014 Aug 11.

PMID:
25111958
40.

An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.

Verhagen JM, Oostdijk W, Terwisscha van Scheltinga CE, Schalij-Delfos NE, van Bever Y.

Eur J Med Genet. 2014 Sep;57(9):510-2. doi: 10.1016/j.ejmg.2014.05.005. Epub 2014 May 23.

PMID:
24862881
41.

Comparison of body surface area versus weight-based growth hormone dosing for girls with Turner syndrome.

Schrier L, de Kam ML, McKinnon R, Che Bakri A, Oostdijk W, Sas TC, Menke LA, Otten BJ, de Muinck Keizer-Schrama SM, Kristrom B, Ankarberg-Lindgren C, Burggraaf J, Albertsson-Wikland K, Wit JM.

Horm Res Paediatr. 2014;81(5):319-30. doi: 10.1159/000357844. Epub 2014 Apr 23.

42.

Pseudoisodicentric Xp chromosome [46,X,psu idic(X)(q21.1)] and its effect on growth and pubertal development.

van der Kamp HJ, Kant SG, Ruivenkamp CA, Gijsbers AC, Haring D, Oostdijk W.

Horm Res Paediatr. 2014;81(6):416-21. doi: 10.1159/000357141. Epub 2014 Apr 2.

PMID:
24714330
43.

The IGSF1 deficiency syndrome: characteristics of male and female patients.

Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TM, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JA, Endert E, Hennekam RC, Lombardi MP, Mannens MM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg AS.

J Clin Endocrinol Metab. 2013 Dec;98(12):4942-52. doi: 10.1210/jc.2013-2743. Epub 2013 Oct 9.

PMID:
24108313
44.

Copy number variants in patients with short stature.

van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG, Mericq V, Pereira AM, Claahsen-van de Grinten HL, van Gool SA, Breuning MH, Losekoot M, Baron J, Ruivenkamp CA, Wit JM.

Eur J Hum Genet. 2014 May;22(5):602-9. doi: 10.1038/ejhg.2013.203. Epub 2013 Sep 25.

45.

An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.

Hannema SE, van Duyvenvoorde HA, Premsler T, Yang RB, Mueller TD, Gassner B, Oberwinkler H, Roelfsema F, Santen GW, Prickett T, Kant SG, Verkerk AJ, Uitterlinden AG, Espiner E, Ruivenkamp CA, Oostdijk W, Pereira AM, Losekoot M, Kuhn M, Wit JM.

J Clin Endocrinol Metab. 2013 Dec;98(12):E1988-98. doi: 10.1210/jc.2013-2358. Epub 2013 Sep 20.

PMID:
24057292
46.

Evaluation of asymptomatic short children.

Wit JM, Oostdijk W.

J Pediatr. 2013 Nov;163(5):1534-5. doi: 10.1016/j.jpeds.2013.07.037. Epub 2013 Sep 5. No abstract available.

PMID:
24011761
47.

Eight years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects.

Bakker NE, Kuppens RJ, Siemensma EP, Tummers-de Lind van Wijngaarden RF, Festen DA, Bindels-de Heus GC, Bocca G, Haring DA, Hoorweg-Nijman JJ, Houdijk EC, Jira PE, Lunshof L, Odink RJ, Oostdijk W, Rotteveel J, Schroor EJ, Van Alfen AA, Van Leeuwen M, Van Pinxteren-Nagler E, Van Wieringen H, Vreuls RC, Zwaveling-Soonawala N, de Ridder MA, Hokken-Koelega AC.

J Clin Endocrinol Metab. 2013 Oct;98(10):4013-22. doi: 10.1210/jc.2013-2012. Epub 2013 Sep 3.

PMID:
24001750
48.

Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome.

Elfferich P, van Royen ME, van de Wijngaart DJ, Trapman J, Drop SL, van den Akker EL, Lusher SJ, Bosch R, Bunch T, Hughes IA, Houtsmuller AB, Cools M, Faradz SM, Bisschop PH, Bunck MC, Oostdijk W, Brüggenwirth HT, Brinkmann AO.

Sex Dev. 2013;7(5):223-34. doi: 10.1159/000351820. Epub 2013 Jun 12.

49.

Pharmacokinetics and pharmacodynamics of orally administered clonidine: a model-based approach.

Klein RH, Alvarez-Jimenez R, Sukhai RN, Oostdijk W, Bakker B, Reeser HM, Ballieux BE, Hu P, Klaassen ES, Freijer J, Burggraaf J, Cohen AF, Wit JM.

Horm Res Paediatr. 2013;79(5):300-9. doi: 10.1159/000350819. Epub 2013 Jun 1.

PMID:
23735833
50.

Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region.

Kant SG, Broekman SJ, de Wit CC, Bos M, Scheltinga SA, Bakker E, Oostdijk W, van der Kamp HJ, van Zwet EW, van der Hout AH, Wit JM, Losekoot M.

PeerJ. 2013 Feb 19;1:e35. doi: 10.7717/peerj.35. Print 2013.

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