Publications by authors named "Sultana M H Faradz"

50Publications

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.

Am J Med Genet A 2020 Sep 18. Epub 2020 Sep 18.

Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

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http://dx.doi.org/10.1002/ajmg.a.61835DOI Listing
September 2020

Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia.

J Clin Endocrinol Metab 2019 11;104(11):5065-5072

Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, Netherlands.

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http://dx.doi.org/10.1210/jc.2019-00547DOI Listing
November 2019

Training in clinical genetics and genetic counseling in Asia.

Am J Med Genet C Semin Med Genet 2019 06 29;181(2):177-186. Epub 2019 Apr 29.

Department of Pediatrics, College of Medicine, University of the Philippines Manila, Manila, Philippines.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31703
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http://dx.doi.org/10.1002/ajmg.c.31703DOI Listing
June 2019

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

Front Pediatr 2018 30;6:434. Epub 2019 Jan 30.

Department of Child and Adolescent Psychiatry and Psychology, Erasmus Medical Center Rotterdam, Sophia Children's Hospital, Rotterdam, Netherlands.

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http://dx.doi.org/10.3389/fped.2018.00434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371023PMC
January 2019

A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots.

Front Genet 2018 27;9:582. Epub 2018 Nov 27.

Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.

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http://dx.doi.org/10.3389/fgene.2018.00582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277581PMC
November 2018

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

BMJ Paediatr Open 2017 30;1(1):e000130. Epub 2017 Oct 30.

Department of Child and Adolescent Psychiatry and Psychology, Erasmus MC Sophia, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1136/bmjpo-2017-000130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862183PMC
October 2017

Current practice for genetic counselling by nurses: An integrative review.

Int J Nurs Pract 2018 Apr 20;24(2):e12629. Epub 2018 Feb 20.

School of Nursing, Midwifery, and Social Science, Central Queensland University, Rockhampton North, Australia.

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http://doi.wiley.com/10.1111/ijn.12629
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http://dx.doi.org/10.1111/ijn.12629DOI Listing
April 2018

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.

Hum Genomics 2017 02 16;11(1). Epub 2017 Feb 16.

Division of Human Genetics, Centre for Biomedical Research, Faculty of Medicine, Diponegoro University (FMDU), JL. Prof. H. Soedarto, SH, Tembalang, Semarang, 50275, Central Java, Indonesia.

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http://humgenomics.biomedcentral.com/articles/10.1186/s40246
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http://dx.doi.org/10.1186/s40246-017-0098-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314676PMC
February 2017

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

Invest Ophthalmol Vis Sci 2016 Nov;57(14):6180-6187

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands 13Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.16-20148DOI Listing
November 2016

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

Clin Endocrinol (Oxf) 2016 08 4;85(2):247-57. Epub 2016 Apr 4.

Department of Paediatrics, Division of Endocrinology, Sophia Children's Hospital, Erasmus University Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/cen.13051DOI Listing
August 2016

Association between methylenetetrahydrofolate reductase (MTHFR) polymorphism and carotid intima medial thickness progression in post ischaemic stroke patient.

Ann Transl Med 2015 Dec;3(21):324

1 Department of Neurology, 2 Center for Biomedical Research (CEBIOR), 3 Department of Internal Medicine, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

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http://www.atmjournal.org/article/view/8580/9251
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http://dx.doi.org/10.3978/j.issn.2305-5839.2015.12.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691009PMC
December 2015

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Hum Mutat 2015 Dec 10;36(12):1145-9. Epub 2015 Sep 10.

Department of Clinical Genetics, Center for Connective Tissue Research, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22854DOI Listing
December 2015

Combination of Aspartate Aminotranferase and Tumor Necrosis Factor-α as Non Invasive Diagnostic Tools for Non Alcoholic Steatohepatitis (NASH).

Acta Med Indones 2015 Jan;47(1):16-23

Department of Internal Medicine, Faculty of Medicine Universitas Diponegoro - dr. Kariadi Hospital, Semarang, Indonesia.

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January 2015

Methadone use in a male with the FMRI premutation and FXTAS.

Am J Med Genet A 2015 Jun 21;167(6):1354-9. Epub 2015 Apr 21.

Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, Sacramento, California.

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http://doi.wiley.com/10.1002/ajmg.a.37030
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http://dx.doi.org/10.1002/ajmg.a.37030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845901PMC
June 2015

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

Arch Sex Behav 2015 Jul 27;44(5):1339-61. Epub 2015 Mar 27.

Department of Clinical Psychology, Faculty of Psychology, Diponegoro University, Tembalang, Semarang, 50275, Indonesia,

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http://dx.doi.org/10.1007/s10508-015-0493-5DOI Listing
July 2015

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

J Psychosom Res 2015 Jul 15;79(1):76-84. Epub 2014 Dec 15.

Department of Child and Adolescence Psychiatry, Erasmus MC-Sophia, Rotterdam, The Netherlands; Department of Pediatrics, Division of Pediatric Endocrinology, Erasmus MC-Sophia, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jpsychores.2014.12.007DOI Listing
July 2015

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

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

1] Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/ejhg.2014.130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666572PMC
April 2015

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Mol Vis 2014 2;20:753-9. Epub 2014 Jun 2.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://www.molvis.org/molvis/v20/753/mv-v20-753.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043607PMC
September 2014

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.

Case Rep Genet 2014 30;2014:530134. Epub 2014 Mar 30.

Department of Human Genetics, Radboud University Medical Center, The Netherlands Division of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1155/2014/530134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985205PMC
May 2014

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

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

a Department of Clinical Psychology, Faculty of Psychology , Diponegoro University.

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http://www.tandfonline.com/doi/abs/10.1080/00224499.2013.816
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http://dx.doi.org/10.1080/00224499.2013.816260DOI Listing
December 2016

Genetic counseling/consultation in South-East Asia: a report from the workshop at the 10th Asia pacific conference on human genetics.

J Genet Couns 2013 Dec 19;22(6):917-24. Epub 2013 Sep 19.

School of English, The University of Hong Kong, Faculty of Arts, Centennial Campus, the University of Hong Kong, Room 738, 7/F, Run Run Shaw Tower (Building B, Arts) Pokfulam Road, Hong Kong SAR, China,

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http://dx.doi.org/10.1007/s10897-013-9646-7DOI Listing
December 2013

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.

Indian J Hum Genet 2013 Apr;19(2):171-8

Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine Diponegoro University, Semarang, Indonesia ; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758723PMC
http://dx.doi.org/10.4103/0971-6866.116118DOI Listing
April 2013

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.

Singapore Med J 2013 Mar;54(3):e72-5

Centre for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Dr Sutomo 14, Semarang, Indonesia.

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http://dx.doi.org/10.11622/smedj.2013055DOI Listing
March 2013

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.

Case Rep Genet 2012 1;2012:949507. Epub 2012 Dec 1.

Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University GSG, 2nd Floor Jl. Dr. Sutomo 14, Semarang, Indonesia ; Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1155/2012/949507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517822PMC
December 2012

Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.

Gene 2012 Dec 17;511(2):451-4. Epub 2012 Sep 17.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.gene.2012.09.018DOI Listing
December 2012

Immune-mediated disorders among women carriers of fragile X premutation alleles.

Am J Med Genet A 2012 Oct 17;158A(10):2473-81. Epub 2012 Aug 17.

Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Health System, Sacramento, USA.

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http://dx.doi.org/10.1002/ajmg.a.35569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105154PMC
October 2012

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

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

Department of Human Genetics, Center for Biomedical Research, Faculty of Medicine Diponegoro University (FMDU), Semarang 50321, Indonesia.

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http://dx.doi.org/10.1155/2012/237084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3255103PMC
August 2012

A cytogenetic study in a large population of intellectually disabled Indonesians.

Genet Test Mol Biomarkers 2012 May 22;16(5):412-7. Epub 2011 Dec 22.

Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University GSG, Semarang, Indonesia.

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http://dx.doi.org/10.1089/gtmb.2011.0157DOI Listing
May 2012

Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening.

Genet Test Mol Biomarkers 2012 Mar 11;16(3):162-6. Epub 2011 Oct 11.

Division of Human Genetic Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0089
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http://dx.doi.org/10.1089/gtmb.2011.0089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306584PMC
March 2012

Toll-like receptor 4 polymorphisms in dengue virus-infected children.

Am J Trop Med Hyg 2011 Aug;85(2):352-4

Department of Parasitology, Diponegoro University, Semarang, Indonesia.

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http://dx.doi.org/10.4269/ajtmh.2011.10-0728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144836PMC
August 2011

Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers.

Ethn Health 2011 Aug-Oct;16(4-5):483-99

Biomedical Postgraduate Program on Genetic Counseling, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

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http://dx.doi.org/10.1080/13557858.2011.564607DOI Listing
December 2011

Increase of plasminogen activator inhibitor-1 and decrease of transforming growth factor-b1 in children with dengue haemorrhagic fever in Indonesia.

J Trop Pediatr 2011 Dec 28;57(6):424-32. Epub 2011 Jan 28.

Faculty of Medicine, Department of Parasitology, Dr Kariadi Hospital and Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

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http://dx.doi.org/10.1093/tropej/fmq122DOI Listing
December 2011

High plasma mid-regional pro-adrenomedullin levels in children with severe dengue virus infections.

J Clin Virol 2011 Jan 16;50(1):8-12. Epub 2010 Oct 16.

Department of General Internal Medicine, Radboud University Nijmegen Medical Center, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S138665321000369
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http://dx.doi.org/10.1016/j.jcv.2010.09.008DOI Listing
January 2011

Lack of correlation between phenotype and genotype in untreated 21-hydroxylase-deficient Indonesian patients.

Clin Endocrinol (Oxf) 2009 Nov 18;71(5):628-35. Epub 2009 Feb 18.

Department of Internal Medicine, Section of Endocrinology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://doi.wiley.com/10.1111/j.1365-2265.2009.03550.x
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http://dx.doi.org/10.1111/j.1365-2265.2009.03550.xDOI Listing
November 2009

Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads.

J Clin Endocrinol Metab 2006 Jun 11;91(6):2404-13. Epub 2006 Apr 11.

Department of Pathology, Erasmus Medical Center, University Medical Center Rotterdam, Josephine Nefkens Institute, Room 430b, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2005-2554DOI Listing
June 2006