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Items: 1 to 50 of 117

1.

Lanreotide Reduces Liver Growth In Patients With Autosomal Dominant Polycystic Liver and Kidney Disease.

van Aerts RMM, Kievit W, D'Agnolo HMA, Blijdorp CJ, Casteleijn NF, Dekker SEI, de Fijter JW, van Gastel M, Gevers TJ, van de Laarschot LFM, Lantinga MA, Losekoot M, Meijer E, Messchendorp AL, Neijenhuis MK, Pena MJ, Peters DJM, Salih M, Soonawala D, Spithoven EM, Visser FW, Wetzels JF, Zietse R, Gansevoort RT, Drenth JPH; DIPAK-1 Investigators.

Gastroenterology. 2019 Apr 22. pii: S0016-5085(19)36711-3. doi: 10.1053/j.gastro.2019.04.018. [Epub ahead of print]

PMID:
31022403
2.

Intrauterine twin discordancy followed by partial postnatal catch-up growth in a girl with a pathogenic IGF1R mutation

Ocaranza P, Losekoot M, Walenkamp MJE, de Bruin C, Wit JM, Mericq V.

J Clin Res Pediatr Endocrinol. 2019 Mar 12. doi: 10.4274/jcrpe.galenos.2019.2018.0236. [Epub ahead of print]

3.

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
4.

Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.

Tibben A, Dondorp WJ, de Wert GM, de Die-Smulders CE, Losekoot M, Bijlsma EK.

J Huntingtons Dis. 2019;8(1):71-78. doi: 10.3233/JHD-180314.

PMID:
30689590
5.

Effect of Lanreotide on Kidney Function in Patients With Autosomal Dominant Polycystic Kidney Disease: The DIPAK 1 Randomized Clinical Trial.

Meijer E, Visser FW, van Aerts RMM, Blijdorp CJ, Casteleijn NF, D'Agnolo HMA, Dekker SEI, Drenth JPH, de Fijter JW, van Gastel MDA, Gevers TJ, Lantinga MA, Losekoot M, Messchendorp AL, Neijenhuis MK, Pena MJ, Peters DJM, Salih M, Soonawala D, Spithoven EM, Wetzels JF, Zietse R, Gansevoort RT; DIPAK-1 Investigators.

JAMA. 2018 Nov 20;320(19):2010-2019. doi: 10.1001/jama.2018.15870.

6.

Urinary Biomarkers to Identify Autosomal Dominant Polycystic Kidney Disease Patients With a High Likelihood of Disease Progression.

Messchendorp AL, Meijer E, Boertien WE, Engels GE, Casteleijn NF, Spithoven EM, Losekoot M, Burgerhof JGM, Peters DJM, Gansevoort RT; DIPAK Consortium.

Kidney Int Rep. 2017 Oct 14;3(2):291-301. doi: 10.1016/j.ekir.2017.10.004. eCollection 2018 Mar.

7.

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.

8.

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Borràs DM, Vossen RHAM, Liem M, Buermans HPJ, Dauwerse H, van Heusden D, Gansevoort RT, den Dunnen JT, Janssen B, Peters DJM, Losekoot M, Anvar SY.

Hum Mutat. 2017 Jul;38(7):870-879. doi: 10.1002/humu.23223. Epub 2017 May 29.

9.

Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations.

Işık E, Haliloglu B, van Doorn J, Demirbilek H, Scheltinga SA, Losekoot M, Wit JM.

Eur J Endocrinol. 2017 Jun;176(6):657-667. doi: 10.1530/EJE-16-0999. Epub 2017 Mar 1.

PMID:
28249955
10.

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.

11.

Maturity onset diabetes of the young: Seek and you will find.

Heuvel-Borsboom H, de Valk HW, Losekoot M, Westerink J.

Neth J Med. 2016 Jun;74(5):193-200. Review.

12.

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.

13.

Proteomics of Urinary Vesicles Links Plakins and Complement to Polycystic Kidney Disease.

Salih M, Demmers JA, Bezstarosti K, Leonhard WN, Losekoot M, van Kooten C, Gansevoort RT, Peters DJ, Zietse R, Hoorn EJ; DIPAK Consortium.

J Am Soc Nephrol. 2016 Oct;27(10):3079-3092. Epub 2016 Mar 3.

14.

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.

15.

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.

16.

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.

17.

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
18.

[Maturity-onset diabetes of the young].

van der Tuin K, Hannema SE, Houdijk EC, Losekoot M, de Koning EJ, Breuning MH.

Ned Tijdschr Geneeskd. 2015;159:A9247. Review. Dutch.

PMID:
26374728
19.

A novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) gene mutation, presenting with neonatal cholestasis.

de Vries AG, Bakker-van Waarde WM, Dassel AC, Losekoot M, Duiker EW, Gouw AS, Bodewes FA.

J Hepatol. 2015 Nov;63(5):1295-7. doi: 10.1016/j.jhep.2015.08.005. Epub 2015 Aug 22. No abstract available.

PMID:
26307397
20.

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
21.

LRP5 variants may contribute to ADPKD.

Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Venselaar H, Mehdi S, Bergmann C, Losekoot M, Breuning MH, Peters DJ, Veltman JA, Drenth JP.

Eur J Hum Genet. 2016 Feb;24(2):237-42. doi: 10.1038/ejhg.2015.86. Epub 2015 Apr 29.

22.

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
23.

An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A.

J Clin Endocrinol Metab. 2015 May;100(5):E789-98. doi: 10.1210/jc.2015-1098. Epub 2015 Mar 5.

24.

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.

25.

A new mutation for Huntington disease following maternal transmission of an intermediate allele.

Semaka A, Kay C, Belfroid RD, Bijlsma EK, Losekoot M, van Langen IM, van Maarle MC, Oosterloo M, Hayden MR, van Belzen MJ.

Eur J Med Genet. 2015 Jan;58(1):28-30. doi: 10.1016/j.ejmg.2014.11.005. Epub 2014 Nov 20.

PMID:
25464109
26.

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
27.

Current and best practices of genetic testing for maturity onset diabetes of the young: views of professional experts.

van der Zwaag AM, Weinreich SS, Bosma AR, Rigter T, Losekoot M, Henneman L, Cornel MC.

Public Health Genomics. 2015;18(1):52-9. doi: 10.1159/000367963. Epub 2014 Oct 21.

28.

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.

29.

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.

Weinreich SS, Bosma A, Henneman L, Rigter T, Spruijt CM, Grimbergen AJ, Breuning MH, de Koning EJ, Losekoot M, Cornel MC.

Eur J Hum Genet. 2015 Jan;23(1):29-33. doi: 10.1038/ejhg.2014.59. Epub 2014 Apr 16.

30.

Genetic analysis of GHR should contain sequencing of all coding exons and specific intron sequences, and screening for exon deletions.

Walenkamp MJ, Klammt J, Feigerlova E, Losekoot M, van Duyvenvoorde HA, Hwa V, Pfäffle R, Wit JM.

Horm Res Paediatr. 2013;80(6):406-12. doi: 10.1159/000355928. Epub 2013 Dec 3.

PMID:
24335149
31.

Alu-mediated recombination defect in IGF1R: haploinsufficiency in a patient with short stature.

Harmel EM, Binder G, Barnikol-Oettler A, Caliebe J, Kiess W, Losekoot M, Ranke MB, Rappold GA, Schlicke M, Stobbe H, Wit JM, Pfäffle R, Klammt J.

Horm Res Paediatr. 2013;80(6):431-42. doi: 10.1159/000355410. Epub 2013 Nov 26.

PMID:
24296753
32.

Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.

Kempers MJ, van der Crabben SN, de Vroede M, Alfen-van der Velden J, Netea-Maier RT, Duim RA, Otten BJ, Losekoot M, Wit JM.

Horm Res Paediatr. 2013;80(6):390-6. doi: 10.1159/000355403. Epub 2013 Nov 23.

PMID:
24280736
33.

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.

34.

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
35.

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.

36.

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ.

Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11.

PMID:
23418007
37.

Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH.

Petkovic V, Miletta MC, Boot AM, Losekoot M, Flück CE, Pandey AV, Eblé A, Wit JM, Mullis PE.

Eur J Endocrinol. 2013 Feb 15;168(3):K35-43. doi: 10.1530/EJE-12-0847. Print 2013 Mar.

PMID:
23417163
38.

Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.

Walenkamp MJ, Losekoot M, Wit JM.

Endocr Dev. 2013;24:128-37. doi: 10.1159/000342841. Epub 2013 Feb 1. Review.

PMID:
23392101
39.

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008.

van Rij MC, de Koning Gans PA, Aalfs CM, Elting M, Ippel PF, Maat-Kievit JA, Vermeer S, Verschuuren-Bemelmans CC, van Belzen MJ, Belfroid RD, Losekoot M, Geraedts JP, Roos RA, Tibben A, de Die-Smulders CE, Bijlsma EK.

Clin Genet. 2014 Jan;85(1):78-86. doi: 10.1111/cge.12090. Epub 2013 Mar 27.

PMID:
23350614
40.

IGSF1 deficiency syndrome: A newly uncovered endocrinopathy.

Joustra SD, van Trotsenburg AS, Sun Y, Losekoot M, Bernard DJ, Biermasz NR, Oostdijk W, Wit JM.

Rare Dis. 2013 May 2;1:e24883. doi: 10.4161/rdis.24883. eCollection 2013.

41.

Spectrum of insulin-like growth factor deficiency.

Wit JM, Oostdijk W, Losekoot M.

Endocr Dev. 2012;23:30-41. doi: 10.1159/000341739. Epub 2012 Nov 23. Review.

PMID:
23182818
42.

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.

Losekoot M, van Belzen MJ, Seneca S, Bauer P, Stenhouse SA, Barton DE; European Molecular Genetic Quality Network (EMQN).

Eur J Hum Genet. 2013 May;21(5):480-6. doi: 10.1038/ejhg.2012.200. Epub 2012 Sep 19.

43.

Genetic analysis of short children with apparent growth hormone insensitivity.

Wit JM, van Duyvenvoorde HA, Scheltinga SA, de Bruin S, Hafkenscheid L, Kant SG, Ruivenkamp CA, Gijsbers AC, van Doorn J, Feigerlova E, Noordam C, Walenkamp MJ, Claahsen-van de Grinten H, Stouthart P, Bonapart IE, Pereira AM, Gosen J, Delemarre-van de Waal HA, Hwa V, Breuning MH, Domené HM, Oostdijk W, Losekoot M.

Horm Res Paediatr. 2012;77(5):320-33. doi: 10.1159/000338462. Epub 2012 Jun 6.

PMID:
22678306
44.

IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature).

Caliebe J, Broekman S, Boogaard M, Bosch CA, Ruivenkamp CA, Oostdijk W, Kant SG, Binder G, Ranke MB, Wit JM, Losekoot M.

Horm Res Paediatr. 2012;77(4):250-60. doi: 10.1159/000338341. Epub 2012 May 9.

PMID:
22572840
45.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.

Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA.

Eur J Med Genet. 2012 Jun;55(6-7):404-13. doi: 10.1016/j.ejmg.2012.02.009. Epub 2012 Mar 29.

46.

A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation.

Mul D, Wu S, de Paus RA, Oostdijk W, Lankester AC, Duyvenvoorde HA, Ruivenkamp CA, Losekoot M, Tol MJ, De Luca F, van de Vosse E, Wit JM.

Eur J Endocrinol. 2012 Apr;166(4):743-52. doi: 10.1530/EJE-11-0774. Epub 2012 Jan 3.

PMID:
22214923
47.

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.

Losekoot M, Ruivenkamp CA, Tholens AP, Grimbergen JE, Vijfhuizen L, Vermeer S, Dijkman HB, Cornelissen EA, Bongers EM, Peters DJ.

J Med Genet. 2012 Jan;49(1):37-40. doi: 10.1136/jmedgenet-2011-100452. Epub 2011 Nov 23.

PMID:
22114106
48.

The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein.

van Duyvenvoorde HA, van Doorn J, Koenig J, Gauguin L, Oostdijk W, Wade JD, Karperien M, Ruivenkamp CA, Losekoot M, van Setten PA, Walenkamp MJ, Noordam C, De Meyts P, Wit JM.

Growth Horm IGF Res. 2011 Feb;21(1):44-50. doi: 10.1016/j.ghir.2010.12.004. Epub 2011 Jan 14.

PMID:
21237682
49.

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

Kant SG, van der Kamp HJ, Kriek M, Bakker E, Bakker B, Hoffer MJ, van Bunderen P, Losekoot M, Maas SM, Wit JM, Rappold G, Breuning MH.

J Clin Endocrinol Metab. 2011 Feb;96(2):E356-9. doi: 10.1210/jc.2010-1505. Epub 2010 Nov 10.

PMID:
21068148
50.

Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.

van Duyvenvoorde HA, van Setten PA, Walenkamp MJ, van Doorn J, Koenig J, Gauguin L, Oostdijk W, Ruivenkamp CA, Losekoot M, Wade JD, De Meyts P, Karperien M, Noordam C, Wit JM.

J Clin Endocrinol Metab. 2010 Nov;95(11):E363-7. doi: 10.1210/jc.2010-0511. Epub 2010 Jul 28.

PMID:
20668042

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