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Prof. Sultana MH Faradz, MD, PhD
Prof. Sultana MH Faradz, MD, PhD
Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Indonesia
Verificeret mail på fk.undip.ac.id
Titel
Citeret af
Citeret af
År
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
S Eggers, S Sadedin, JA Van Den Bergen, G Robevska, T Ohnesorg, ...
Genome biology 17, 1-21, 2016
3592016
Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads
M Cools, H Stoop, AMF Kersemaekers, SLS Drop, KP Wolffenbuttel, ...
The Journal of Clinical Endocrinology & Metabolism 91 (6), 2404-2413, 2006
2242006
Tumor risk in disorders of sex development
J Pleskacova, R Hersmus, JW Oosterhuis, BA Setyawati, SM Faradz, ...
Sexual Development 4 (4-5), 259-269, 2010
2052010
Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures
A Utari, W Chonchaiya, SM Rivera, A Schneider, RJ Hagerman, ...
American journal on intellectual and developmental disabilities 115 (5), 433-443, 2010
1282010
Immune‐mediated disorders among women carriers of fragile X premutation alleles
TI Winarni, W Chonchaiya, TA Sumekar, P Ashwood, GM Morales, ...
American journal of medical genetics Part A 158 (10), 2473-2481, 2012
1092012
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections
D Micha, D Guo, Y Hilhorst‐Hofstee, F van Kooten, D Atmaja, E Overwater, ...
Human mutation 36 (12), 1145-1149, 2015
1062015
Imbalance of angiopoietin-1 and angiopoetin-2 in severe dengue and relationship with thrombocytopenia, endothelial activation, and vascular stability
M Michels, AJAM van der Ven, K Djamiatun, R Fijnheer, PG de Groot, ...
The American journal of tropical medicine and hygiene 87 (5), 943, 2012
1052012
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
GDN Astuti, M Bertelsen, MN Preising, M Ajmal, B Lorenz, SMH Faradz, ...
European Journal of Human Genetics 24 (7), 1071-1079, 2016
882016
Severe dengue is associated with consumption of von Willebrand factor and its cleaving enzyme ADAMTS-13
K Djamiatun, AJAM Van der Ven, PG de Groot, SMH Faradz, D Hapsari, ...
PLoS neglected tropical diseases 6 (5), e1628, 2012
882012
Social stigmatisation in late identified patients with disorders of sex development in Indonesia
A Ediati, AZ Juniarto, E Birnie, J Okkerse, A Wisniewski, S Drop, ...
BMJ Paediatrics Open 1 (1), 2017
562017
Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development
A Ediati, SMH Faradz, AZ Juniarto, J van der Ende, SLS Drop, ...
Journal of Psychosomatic Research 79 (1), 76-84, 2015
562015
Gender development in Indonesian children, adolescents, and adults with disorders of sex development
A Ediati, AZ Juniarto, E Birnie, SLS Drop, SMH Faradz, AB Dessens
Archives of Sexual Behavior 44, 1339-1361, 2015
532015
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping
AM Siemiatkowska, K Arimadyo, LM Moruz, GDN Astuti, M de Castro-Miro, ...
Molecular vision 17, 3013, 2011
532011
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development
G Robevska, JA Van Den Bergen, T Ohnesorg, S Eggers, C Hanna, ...
Human mutation 39 (1), 124-139, 2018
522018
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia
AZ Juniarto, YG van der Zwan, A Santosa, MD Ariani, S Eggers, ...
Clinical Endocrinology 85 (2), 247-257, 2016
512016
Body image and sexuality in Indonesian adults with a disorder of sex development (DSD)
A Ediati, AZ Juniarto, E Birnie, SLS Drop, SMH Faradz, AB Dessens
The Journal of Sex Research 52 (1), 15-29, 2015
452015
High plasma mid-regional pro-adrenomedullin levels in children with severe dengue virus infections
M Michels, K Djamiatun, SMH Faradz, MMJF Koenders, Q de Mast, ...
Journal of clinical virology 50 (1), 8-12, 2011
432011
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1
S Eggers, KR Smith, M Bahlo, LHJ Looijenga, SLS Drop, ZA Juniarto, ...
European Journal of Human Genetics 23 (4), 486-493, 2015
412015
Increased PAI-1 plasma levels and risk of death from dengue: no association with the 4G/5G promoter polymorphism
ATA Mairuhu, TE Setiati, P Koraka, CE Hack, A Leyte, SMH Faradz, ...
Thrombosis Journal 3, 1-8, 2005
412005
Identification of candidate genes for Mayer-Rokitansky-Küster-Hauser syndrome using genomic approaches
B Backhouse, C Hanna, G Robevska, J van den Bergen, E Pelosi, ...
Sexual Development 13 (1), 26-34, 2019
402019
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