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Items: 1 to 50 of 242

1.

Update on the predictability of tall stature from DNA markers in Europeans.

Liu F, Zhong K, Jing X, Uitterlinden AG, Hendriks AEJ, Drop SLS, Kayser M.

Forensic Sci Int Genet. 2019 Jun 1;42:8-13. doi: 10.1016/j.fsigen.2019.05.006. [Epub ahead of print]

2.

Quality of Life in Late-Treated Patients With Disorders of Sex Development: Insights for Patient-Centered Care.

Ediati A, Verrips GHW, Juniarto AZ, Faradz SMH, Drop SLS, Dessens AB.

Front Pediatr. 2019 Jan 30;6:434. doi: 10.3389/fped.2018.00434. eCollection 2018.

3.

Social stigmatisation in late identified patients with disorders of sex development in Indonesia.

Ediati A, Juniarto AZ, Birnie E, Okkerse J, Wisniewski A, Drop S, Faradz SMH, Dessens A.

BMJ Paediatr Open. 2017 Oct 30;1(1):e000130. doi: 10.1136/bmjpo-2017-000130. eCollection 2017.

4.

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.

Cools M, Wolffenbuttel KP, Hersmus R, Mendonca BB, Kaprová J, Drop SLS, Stoop H, Gillis AJM, Oosterhuis JW, Costa EMF, Domenice S, Nishi MY, Wunsch L, Quigley CA, T'Sjoen G, Looijenga LHJ.

Hum Reprod. 2017 Dec 1;32(12):2561-2573. doi: 10.1093/humrep/dex300.

PMID:
29121256
5.

Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans.

Zhong K, Zhu G, Jing X, Hendriks AEJ, Drop SLS, Ikram MA, Gordon S, Zeng C, Uitterlinden AG, Martin NG, Liu F, Kayser M.

Hum Genet. 2017 Nov;136(11-12):1407-1417. doi: 10.1007/s00439-017-1842-3. Epub 2017 Sep 18.

6.

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
7.

Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial.

Benabbad I, Rosilio M, Child CJ, Carel JC, Ross JL, Deal CL, Drop SL, Zimmermann AG, Jia N, Quigley CA, Blum WF.

Horm Res Paediatr. 2017;87(1):42-50. doi: 10.1159/000452973. Epub 2016 Dec 22.

8.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH.

Genome Biol. 2016 Nov 29;17(1):243.

9.

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.

Hornig NC, Ukat M, Schweikert HU, Hiort O, Werner R, Drop SL, Cools M, Hughes IA, Audi L, Ahmed SF, Demiri J, Rodens P, Worch L, Wehner G, Kulle AE, Dunstheimer D, Müller-Roßberg E, Reinehr T, Hadidi AT, Eckstein AK, van der Horst C, Seif C, Siebert R, Ammerpohl O, Holterhus PM.

J Clin Endocrinol Metab. 2016 Nov;101(11):4468-4477. Epub 2016 Sep 1.

10.

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.

Lucas-Herald A, Bertelloni S, Juul A, Bryce J, Jiang J, Rodie M, Sinnott R, Boroujerdi M, Lindhardt Johansen M, Hiort O, Holterhus PM, Cools M, Guaragna-Filho G, Guerra-Junior G, Weintrob N, Hannema S, Drop S, Guran T, Darendeliler F, Nordenstrom A, Hughes IA, Acerini C, Tadokoro-Cuccaro R, Ahmed SF.

J Clin Endocrinol Metab. 2016 Nov;101(11):3959-3967. Epub 2016 Jul 12.

11.

Recalled and current gender role behavior, gender identity and sexual orientation in adults with Disorders/Differences of Sex Development.

Callens N, Van Kuyk M, van Kuppenveld JH, Drop SLS, Cohen-Kettenis PT, Dessens AB; Dutch Study Group on DSD.

Horm Behav. 2016 Nov;86:8-20. doi: 10.1016/j.yhbeh.2016.08.008. Epub 2016 Aug 27.

PMID:
27576114
12.

Psychosocial well-being in Dutch adults with disorders of sex development.

de Neve-Enthoven NG, Callens N, van Kuyk M, van Kuppenveld JH, Drop SL, Cohen-Kettenis PT, Dessens AB.

J Psychosom Res. 2016 Apr;83:57-64. doi: 10.1016/j.jpsychores.2016.03.005. Epub 2016 Mar 10.

PMID:
27020078
13.

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.

Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, Themmen AP, Bruggenwirth HT, Wolffenbuttel KP, Sinclair A, White SJ, Looijenga LH, de Jong FH, Faradz SM, Drop SL.

Clin Endocrinol (Oxf). 2016 Aug;85(2):247-57. doi: 10.1111/cen.13051. Epub 2016 Apr 4.

PMID:
26935236
14.

Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with isolated growth hormone deficiency due to organic causes.

Child CJ, Blum WF, Deal C, Zimmermann AG, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG.

Eur J Endocrinol. 2016 May;174(5):669-79. doi: 10.1530/EJE-15-1203. Epub 2016 Feb 17.

PMID:
26888628
15.

Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development.

Ediati A, Juniarto AZ, Birnie E, Drop SL, Faradz SM, Dessens AB.

Arch Sex Behav. 2015 Jul;44(5):1339-61. doi: 10.1007/s10508-015-0493-5. Epub 2015 Mar 27.

PMID:
25813609
16.

The clinical pattern of diabetes Insipidus in a large university hospital in the Middle East.

Babiker AM, Al Jurayyan NA, Al Jurayyan RN, Al Gadi I, Drop SL.

J Trop Pediatr. 2015 Apr;61(2):100-5. doi: 10.1093/tropej/fmu075. Epub 2015 Jan 12.

PMID:
25587001
17.

Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development.

Ediati A, Faradz SM, Juniarto AZ, van der Ende J, Drop SL, Dessens AB.

J Psychosom Res. 2015 Jul;79(1):76-84. doi: 10.1016/j.jpsychores.2014.12.007. Epub 2014 Dec 15.

PMID:
25563666
18.

Global application of disorders of sex development-related electronic resources: e-learning, e-consultation and e-information sharing.

Muscarella M, Kranenburg-van Koppen L, Grijpink-van den Biggelaar K, Drop SL.

Endocr Dev. 2014;27:268-83. doi: 10.1159/000363674. Epub 2014 Sep 9. Review.

PMID:
25247662
19.

A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses.

van der Eerden BC, van der Heyden JC, van Hamburg JP, Schreuders-Koedam M, Asmawidjaja PS, de Muinck Keizer-Schrama SM, Boot AM, Lubberts E, Drop SL, van Leeuwen JP.

Bone. 2014 Dec;69:6-11. doi: 10.1016/j.bone.2014.08.005. Epub 2014 Sep 6.

PMID:
25201466
20.

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.

Eggers S, Smith KR, Bahlo M, Looijenga LH, Drop SL, Juniarto ZA, Harley VR, Koopman P, Faradz SM, Sinclair AH.

Eur J Hum Genet. 2015 Apr;23(4):486-93. doi: 10.1038/ejhg.2014.130. Epub 2014 Aug 6.

21.

Novel associations in disorders of sex development: findings from the I-DSD Registry.

Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, Arlt W, Audi L, Balsamo A, Bertelloni S, Cools M, Darendeliler F, Drop S, Ellaithi M, Guran T, Hiort O, Holterhus PM, Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P, Ahmed SF.

J Clin Endocrinol Metab. 2014 Feb;99(2):E348-55. doi: 10.1210/jc.2013-2918. Epub 2013 Dec 3.

22.

Common DNA variants predict tall stature in Europeans.

Liu F, Hendriks AE, Ralf A, Boot AM, Benyi E, Sävendahl L, Oostra BA, van Duijn C, Hofman A, Rivadeneira F, Uitterlinden AG, Drop SL, Kayser M.

Hum Genet. 2014 May;133(5):587-97. doi: 10.1007/s00439-013-1394-0. Epub 2013 Nov 20.

PMID:
24253421
23.

45,X/46,X,psu dic(Y) gonadal dysgenesis: influence of the two cell lines on the clinical phenotype, including gonadal histology.

Kaprova-Pleskacova J, Snajderova M, Stoop J, Koudova M, Kocarek E, Novotna D, Drop SL, Obermannova B, Lebl J, Oosterhuis JW, Looijenga LH.

Sex Dev. 2013;7(6):282-8. doi: 10.1159/000356173. Epub 2013 Nov 13.

PMID:
24247294
24.

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology.

Kaprova-Pleskacova J, Stoop H, Brüggenwirth H, Cools M, Wolffenbuttel KP, Drop SL, Snajderova M, Lebl J, Oosterhuis JW, Looijenga LH.

Mod Pathol. 2014 May;27(5):721-30. doi: 10.1038/modpathol.2013.193. Epub 2013 Nov 1.

25.

Body image and sexuality in Indonesian adults with a disorder of sex development (DSD).

Ediati A, Juniarto AZ, Birnie E, Drop SL, Faradz SM, Dessens AB.

J Sex Res. 2015;52(1):15-29. doi: 10.1080/00224499.2013.816260. Epub 2013 Oct 21.

PMID:
24144298
26.

Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency.

Blum WF, Deal C, Zimmermann AG, Shavrikova EP, Child CJ, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG.

Eur J Endocrinol. 2013 Nov 22;170(1):13-21. doi: 10.1530/EJE-13-0643. Print 2014 Jan.

PMID:
24088548
27.

Androgen receptor function links human sexual dimorphism to DNA methylation.

Ammerpohl O, Bens S, Appari M, Werner R, Korn B, Drop SL, Verheijen F, van der Zwan Y, Bunch T, Hughes I, Cools M, Riepe FG, Hiort O, Siebert R, Holterhus PM.

PLoS One. 2013 Sep 4;8(9):e73288. doi: 10.1371/journal.pone.0073288. eCollection 2013.

28.

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.

29.

Virilization due to androgen hypersecretion in a patient with ovarian leydig cell tumor: diagnostic and psychosocial implications.

Juniarto AZ, Setiawati BA, Ediati A, van der Zwan YG, Looijenga LH, de Jong FH, Dessens A, Drop SL, Faradz SM.

Acta Med Indones. 2013 Apr;45(2):130-5.

30.

GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

Blum WF, Ross JL, Zimmermann AG, Quigley CA, Child CJ, Kalifa G, Deal C, Drop SL, Rappold G, Cutler GB Jr.

J Clin Endocrinol Metab. 2013 Aug;98(8):E1383-92. doi: 10.1210/jc.2013-1222. Epub 2013 May 29. Erratum in: J Clin Endocrinol Metab. 2013 Dec;98(12):4992.

PMID:
23720786
31.

Long-term outcomes in males with disorders of sex development.

van der Zwan YG, Callens N, van Kuppenveld J, Kwak K, Drop SL, Kortmann B, Dessens AB, Wolffenbuttel KP; Dutch Study Group on DSD.

J Urol. 2013 Sep;190(3):1038-42. doi: 10.1016/j.juro.2013.03.029. Epub 2013 Mar 15.

PMID:
23507395
32.

Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia).

Juniarto AZ, Setyawati BA, Miranti IP, Santosa A, Hersmus R, Stoop H, Cools M, Oosterhuis JW, Drop SL, Faradz SM, Looijenga LH.

J Clin Pathol. 2013 Mar;66(3):198-204. doi: 10.1136/jclinpath-2012-201062. Epub 2012 Dec 25.

PMID:
23268320
33.

Severity of virilization is associated with cosmetic appearance and sexual function in women with congenital adrenal hyperplasia: a cross-sectional study.

van der Zwan YG, Janssen EH, Callens N, Wolffenbuttel KP, Cohen-Kettenis PT, van den Berg M, Drop SL, Dessens AB, Beerendonk C; Dutch Study Group on DSD.

J Sex Med. 2013 Mar;10(3):866-75. doi: 10.1111/jsm.12028. Epub 2012 Dec 13.

PMID:
23237191
34.

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.

Hersmus R, Stoop H, Turbitt E, Oosterhuis JW, Drop SL, Sinclair AH, White SJ, Looijenga LH.

BMC Med Genet. 2012 Nov 16;13:108. doi: 10.1186/1471-2350-13-108.

35.

E-consultation for DSD: a global platform for access to expert advice.

Drop SL, Mure PY, Wood D, El-Ghoneimi A, Faisal Ahmed S.

J Pediatr Urol. 2012 Dec;8(6):629-32. doi: 10.1016/j.jpurol.2012.10.009. Epub 2012 Oct 26. Review.

PMID:
23107373
36.

Advice on the management of ambiguous genitalia to a young endocrinologist from experienced clinicians.

Wilson JD, Rivarola MA, Mendonca BB, Warne GL, Josso N, Drop SL, Grumbach MM.

Semin Reprod Med. 2012 Oct;30(5):339-50. doi: 10.1055/s-0032-1324717. Epub 2012 Oct 8. Review.

PMID:
23044870
37.

Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas.

Hersmus R, Stoop H, van de Geijn GJ, Eini R, Biermann K, Oosterhuis JW, Dhooge C, Schneider DT, Meijssen IC, Dinjens WN, Dubbink HJ, Drop SL, Looijenga LH.

PLoS One. 2012;7(8):e43952. doi: 10.1371/journal.pone.0043952. Epub 2012 Aug 28.

38.

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.

Hersmus R, van der Zwan YG, Stoop H, Bernard P, Sreenivasan R, Oosterhuis JW, Brüggenwirth HT, de Boer S, White S, Wolffenbuttel KP, Alders M, McElreavy K, Drop SL, Harley VR, Looijenga LH.

PLoS One. 2012;7(7):e40858. doi: 10.1371/journal.pone.0040858. Epub 2012 Jul 18.

39.

A novel AMH missense mutation in a patient with persistent Müllerian duct syndrome.

van der Zwan YG, Brüggenwirth HT, Drop SL, Wolffenbuttel KP, Madern GC, Looijenga LH, Visser JA.

Sex Dev. 2012;6(6):279-83. doi: 10.1159/000339704. Epub 2012 Jul 11.

40.

Fertility of tall girls treated with high-dose estrogen, a dose-response relationship.

Hendriks AE, Drop SL, Laven JS, Boot AM.

J Clin Endocrinol Metab. 2012 Sep;97(9):3107-14. doi: 10.1210/jc.2012-1078. Epub 2012 Jun 20.

PMID:
22723330
41.

Do surgical interventions influence psychosexual and cosmetic outcomes in women with disorders of sex development?

Callens N, van der Zwan YG, Drop SL, Cools M, Beerendonk CM, Wolffenbuttel KP, Dessens AB.

ISRN Endocrinol. 2012;2012:276742. doi: 10.5402/2012/276742. Epub 2012 Mar 5.

42.

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.

Bergman JE, de Ronde W, Jongmans MC, Wolffenbuttel BH, Drop SL, Hermus A, Bocca G, Hoefsloot LH, van Ravenswaaij-Arts CM.

J Clin Endocrinol Metab. 2012 May;97(5):E858-62. doi: 10.1210/jc.2011-2652. Epub 2012 Mar 7.

PMID:
22399515
43.

Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors.

Hersmus R, Stoop H, White SJ, Drop SL, Oosterhuis JW, Incrocci L, Wolffenbuttel KP, Looijenga LH.

Int J Endocrinol. 2012;2012:671209. doi: 10.1155/2012/671209. Epub 2012 Jan 19.

44.

Application of the new classification on patients with a disorder of sex development in indonesia.

Juniarto AZ, van der Zwan YG, Santosa A, Hersmus R, de Jong FH, Olmer R, Bruggenwirth HT, Themmen AP, Wolffenbuttel KP, Looijenga LH, Faradz SM, Drop SL.

Int J Endocrinol. 2012;2012:237084. doi: 10.1155/2012/237084. Epub 2011 Dec 29.

45.

Correlation between androstenedione and 17-hydroxyprogesterone levels in the saliva and plasma of patients with congenital adrenal hyperplasia.

Juniarto AZ, Goossens K, Setyawati BA, Drop SL, de Jong FH, Faradz SM.

Singapore Med J. 2011 Nov;52(11):810-3.

46.

Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth.

Cools M, Hoebeke P, Wolffenbuttel KP, Stoop H, Hersmus R, Barbaro M, Wedell A, Brüggenwirth H, Looijenga LH, Drop SL.

Eur J Endocrinol. 2012 Feb;166(2):341-9. doi: 10.1530/EJE-11-0392. Epub 2011 Nov 11.

PMID:
22080441
47.

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development.

White S, Hewitt J, Turbitt E, van der Zwan Y, Hersmus R, Drop S, Koopman P, Harley V, Cools M, Looijenga L, Sinclair A.

Eur J Hum Genet. 2012 Mar;20(3):348-51. doi: 10.1038/ejhg.2011.204. Epub 2011 Nov 9.

48.

Common polymorphisms in the GH/IGF-1 axis contribute to growth in extremely tall subjects.

Hendriks AE, Brown MR, Boot AM, Oostra BA, de Jong FH, Drop SL, Parks JS.

Growth Horm IGF Res. 2011 Dec;21(6):318-24. doi: 10.1016/j.ghir.2011.08.001. Epub 2011 Sep 25.

PMID:
21944866
49.

Genetic variation in candidate genes like the HMGA2 gene in the extremely tall.

Hendriks AE, Brown MR, Boot AM, Oostra BA, Drop SL, Parks JS.

Horm Res Paediatr. 2011;76(5):307-13. doi: 10.1159/000330764. Epub 2011 Sep 14.

PMID:
21921580
50.

Gonadal development and tumor formation at the crossroads of male and female sex determination.

Cools M, Wolffenbuttel KP, Drop SL, Oosterhuis JW, Looijenga LH.

Sex Dev. 2011;5(4):167-80. doi: 10.1159/000329477. Epub 2011 Jul 22. Review.

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