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SEVENTH FRAMEWORK PROGRAMME

Dissemination - Publications

Publications

  • Reasonable diagnostic pathways in Disorders of Sex Development. Hiort O. LaboratoriumsMedizin - Journal of Laboratory Medicine, accepted 01.12.11

  • A cell model for conditional profiling of androgen receptor-interacting proteins. Mooslehner K, Davies J, Hughes I. International Journal of Endocrinology, accepted 07.11.11

  • Diagnoses of Disorders of Sex Development among Sudanese patients between the years 2008-2010. Ellaithi M, Kamel A, Saber O, Hiort O. Alneelain Medical Journal, accepted 22.10.11

  • Consanguinity and Disorders of Sexual Developments in the Sudan. Ellaithi M, Kamel A, Saber O, Hiort O (2011). Sudan JMS 2011; 6 (4):267-270.
    click here for more information

  • A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20-Lyase Deficiency. Idkowiak J, Randell T, Dhir V, Patel P, Shackleton C, Taylor N, Krone N, Arlt W (Mar 2012 [Epub ahead of print]). J Clin Endocrinol Metab Mar 2012 [Epub ahead of print]; 97(3). doi:10.1210/jc.2011-2413

  • Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency. Krone N, Reisch N, Idkowiak J, Dhir V, Ivison H, Hughes B, Rose I, O’Neil D, Vijzelaar R, Smith M, MacDonald F, Cole T, Adolphs N, Barton J, Blair E, Braddock S, Collins F, Cragun D, Dattani M, Day R, Dougan S, Feist M, Gottschalk M, Gregory J, Haim M, Harrison R, Haskins Olney A, Hauffa B, Hindmarsh P, Hopkin R, Jira P, Kempers M, Kerstens M, Khalifa M, Köhler B, Maiter D, Nielsen S, O’Riordan S, Roth C, Shane K, Silink M, Stikkelbroeck N, Sweeney E, Szarras-Czapnik M, Waterson J, Williamson L, Hartmann M, Taylor N, Wudy S, Malunowicz E, Shackleton C, Arlt W (Feb 2012 [Epub 07.12.11]). J Clin Endocrinol Metab Feb 2012 [Epub 07.12.11]; 97(2). doi:10.1210/jc.2011-0640

  • Hormonal Management of Complete Androgen Insensitivity Syndrome from Adolescence Onward. Bertelloni S, Dati E, Baroncelli G, Hiort O (2011). Horm Res Paediatr 2011; 76(6):428-433. doi:10.1159/000334162

  • Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias. Allali S, Muller J, Brauner R, Lourenc D, Boudjenah R, Karageorgou V, Trivin C, Lottmann H, Lortat-Jacob S, Nihoul-Fékété C, De Dreuzy O, McElreavey K, Bashamboo A (2011). PLOS One 2011; 2011; 6(10):e24117. doi:10.1371/journal.pone.0024117

  • Classifying Architectural Data Sharing Models for e-Health Collaborations. Sinnott RO, Stell AJ, Jiang J (2011). IOS Press 2011; 9th International HealthGrid conference.
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  • Störungen der männlichen Gonadendifferenzierung. Wieacker P, Ledig S (2011). medgen 2011; 23(2): 231-236. doi:10.1007/s11825-011-0279-7

  • UK Guidance On The Initial Evaluation Of An Infant Or An Adolescent With A Suspected Disorder Of Sex Development.. Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z, Elford S, Hughes IA, Izatt L, Krone N, Miles H, O'Toole S, Perry L, Sanders C, Simmonds M, Michael Wallace A, Watt A, Willis D (2011). Clin endocrinol (Oxf). 2011; 75(1):12-26. doi:10.1111/j.1365-2265.2011.04076.x

  • Loss-of-function mutation in GATA4 causes anomalies of human testicular development. Lourençoa D, Braunerb R, Rybczynskaa M, Nihoul-Fékétéc C, McElreaveya K, Bashambooa A (2011). PNAS 2011; 108(4):1597-1602. doi:10.1073/pnas.1010257108

  • Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. Idkowiak J, O'Riordan S Reisch N, Malunowicz E, Collins F, Kerstens M, Köhler B, Graul-Neumann L, Szarras-Czapnik M, Dattani M, Silink M, Shackleton C, Maiter D, Krone N, Arlt W (2011). J Clin Endocrinol Metab 2011; 96(3):E453-62. doi:10.1210/jc.2010-1607

  • Adrenal gland: Congenital adrenal hyperplasia: new treatment guidelines. Riepe FG (2011). Nat Rev Endocrinol 2011; 7(1):6-12. doi:10.1038/nrendo.2010.197

  • Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1. Bashamboo A, Ferraz-de-Souza B, Lourenço D,1 Lin L, Sebire N, Montjean D, Bignon-Topalovic J, Mandelbaum, J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann J, McElreavey K (2010). AJHG 2010; 87(4):505-12. doi:10.1016/j.ajhg.2010.09.009

  • Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients. Arlt W, Willis DS, Wild SH, Krone N, Doherty EJ, Hahner S, Han TS, Carroll PV, Conway GS, Rees DA, Stimson RH, Walker BR, Connell JM, Ross RJ; the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) (2010). J Clin Endocrinol Metab 2010; 95(11):5110-21. doi:10.1210/jc.2010-0917

  • Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci. Ledig S, Hiort O, Scherer G, Hoffmann M, Wolff G, Morlot S, Kuechler A, Wieacker P (2010). Hum Reprod. 2010; 25(10):2637-46. doi:10.1093/humrep/deq167

  • Ontogenesis of Testis Development and Function in Humans. Stukenborg J, Colón E, Söder O (2010). Sex Dev 2010; 4 (4-5):199-212. doi:10.1159/000317090

  • A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation. Argyriou L, Hiort O, Meinecke P, Wünsch L, Volleth M, Hinrichs F, Caliebe A, Gillessen-Kaesbach G (2010). Clin Dysmorphol. 2010; 19(4):190-4. doi:10.1097/MCD.0b013e32833c8ba1

  • New Technologies for the identification of novel markers of Disorders of Sex Development. Bashamboo A, Ledig S, Wieacker P, Achermann J, McElreavey K (2010). Sex Dev 2010; 4(4-5):213-214. doi:10.1159/000314917

  • How should we classify intersex disorders? Hughes IA (2010). J Pediatr Urol 2010; 6(5):447-448. PMID: 20605745

  • 46,XY Disorders of Sex Development - The Undermasculinized Male with Disorders of Androgen Action. Werner R, Grötsch H, Hiort O (2010). Best Prac Res Clin Endocrinol Metab 2010; 24(2):263-77. doi:10.1016/j.beem.2009.11.002

  • The European Disorder of Sex Development Registry: A Virtual Research Environment. Ahmed S, Rodie M, Jiang J, Sinnott RO (2010). Sex Dev 2010; 4(4-5):192-198. doi:10.1159/000313434

  • Development and Support of Platforms for Research into Rare Diseases. Sinnott RO, Stell AJ, Jiang J, Watt JP (2010). IEEE Computer Society 2010; 10th IEEE/ACM International Conference, p. 745-750. doi:10.1109/CCGRID.2010.127

  • Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche. Idkowiak J, Malunowicz EM, Dhir V, Reisch N, Szarras-Czapnik M, Holmes DM, Shackleton CH, Davies JD, Hughes IA, Krone N, Arlt W (2010). J Clin Endocrinol Metab 2010; 95(7):3418-27. doi:10.1210/jc.2010-0058

  • Holistic management of DSD. Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, Larcher V, Achermann JC (2010). Best Prac Res Clin Endocrinol Metab 2010; 24(2):335-354. doi:10.1016/j.beem.2010.01.006

  • The quiet revolution. Hughes IA (2010). Best Prac Res Clin Endocrinol Metab 2010; 24(2):159-162. doi:10.1016/j.beem.2010.03.005

  • TAC3/TACR3 mutations reveal preferential activation of GnRH release by Neurokinin B in neonatal life followed by reversal in adulthood. Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonça BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB (2010). J Clin Endocrinol Metab 2010; 95(6):2857-67. doi:10.1210/jc.2009-2320

  • A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age- and sex-specific reference data. Kulle AE, Riepe FG, Melchior D, Hiort O, Holterhus PM (2010). J Clin Endocrinol Metab 2010; 95(5):2399-409. doi:10.1210/jc.2009-1670

  • Development of an e-learning portal: Educational considerations. Grijpink-van den Biggelaar K, Drop S, Schuwirth L (2010). Horm Res Paediatr 2010; 73(3):223-230. doi:10.1159/000284366

  • Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency. Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N (2010). J Clin Endocrinol Metab 2010; 95(2):779-88. doi:10.1210/jc.2009-0651

  • Congenital Lipoid Adrenal Hyperplasia: Functional characterization of three novel mutations in the STAR gene. Bens S, Mohn A, Yüksel B, Kulle AE, Michalek M, Chiarelli F, Nuri Ozbek M, Leuschner I, Grötzinger J, Holterhus PM, Riepe FG (2010). J Clin Endocrinol Metab 2010; 95(3):1301-8. doi:10.1210/jc.2009-1176

  • A Secure Virtual Research Environment for Paediatric Endocrinology. Jiang J, Sinnott RO, Stell A (2009). UK e-Science All Hands Meeting, 2009

  • Security-oriented Portals for the Life Sciences, Sinnott RO, Doherty T, Jiang J, McCafferty S, Stell A, Watt J (2009). CEUR Workshop Proc. 2009; Vol. 513:Paper 09. click here for more information

  • Non-classic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nurnberg G, Nurnberg P, Green J, Tomlinson JW, Krone NP, Lin L, Racine M, Berney DM, Achermann JC, Racine M, Arlt W, Clark AJL (2009). J Clin Endocrinol Metab 2009; 94(10):3865-71. doi:10.1210/jc.2009-0467

  • Consequences of the Chicago Consensus on the Disorders of Sex Development (DSD): Current Practices in Europe. Pasterski V, Prentice P, Hughes I (2009). Arch Dis Child 2009; 95(8):618-23. doi:10.1136/adc.2009.163840

  • Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes. Holterhus PM, Bebermeier JH, Werner R, Demeter J, Richter-Unruh A, Cario G, Appari M, Siebert R, Riepe F, Brooks JD, Hiort O (2009). BMC Genomics 2009; 10(292):292. doi:10.1186/1471-2164-10-292

  • Towards a Virtual Research Environment for Paediatric Endocrinology across Europe. Jipu Jiang, Richard Sinnott, Anthony Stell, John Watt and Faisal Ahmed (2009). IEEE Computer Society 496-501. DOI: 10.1109/CCGRID.2009.68
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  • EuroDSD Newsletter, National e-Science Centre, Glasgow, Richard Sinnott, Jipu Jiang
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  • About EuroDSD, Coordinator of the project, Hiort O, University Luebeck, Germany
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