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Prof.dr. Sultana MH Faradz ,Ph.D » Profil Dokter

Prof.dr. Sultana MH Faradz ,Ph.D

Ketua Konsentrasi Konseling Genetika, Direktur CEBIOR
Photo of Prof.dr. Sultana MH Faradz ,Ph.D

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Pendidikan
S1 : UNDIP ( Kedokteran Umum – 1978 )
S2 : UNDIP ( Histologi – 1987 )
S3 : University of New South Wales, Australia ( Medical Genetics – 1998 )

Pengalaman Profesi
Pembantu Rektor IV (2011 – 2015 )
Ketua Konsentrasi Konseling Genetika (2007 – sekarang )
Direktur CEBIOR ( 2007 – sekarang )
Ketua Bagian Histologi (2008 )
Staf Ahli Pembantu Dekan Bidang Pengembangan dan Kerjasama ( 2005)

Penelitian
Modifikasi Teknik Molekuler Sebagai Prediktor Diagnosis Sindrom Fragile-X yang Aplikatif untuk Skrining Anak dengan Disabilitas Intelektual ( DIPA UNDIP – 2015 )
Strategi Peningkatan Compliance Pada Penderita Hiperplasia Adrenal Kongenital : Pendekatan Komprehensif Pada Pasien dan Keluarga ( Kemenristek Dikti – 2015 )
Pengembangan Teknik High Resolution Melting untuk Biomarker Mutasi Gen Androgen Reseptor (AR Gene)pada Individu dengan 46,XY Disorder of Sex Development (DSD) ( DIPA UNDIP – 2015 )
Impaired Cognitive Function Pada Individu Dengan Disorder of Sexual Development (DSD) ( Hibah kompetisi Lemlit – 2014 )

Publikasi
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a Disorder of Sex Development from Indonesia. Clin Endocrinol (Oxf) 2016 Mar 3. Epub 2016 Mar 3.

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.

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections. Hum Mutat 2015 Dec 10;36(12):1145-9. Epub 2015 Sep 10.

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. Eur J Hum Genet 2015 Dec 2. Epub 2015 Dec 2.

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.

Methadone use in a male with the FMRI premutation and FXTAS (Am J Med Genet A. 2015 Apr 21)

Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1(J Mol Diagn. 2015 May;17(3):302-14)

Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development (Journal of Psychosomatic Research 79 (2015) 76–84)

Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development (Arch Sex Behav. 2015 Mar 27)

Association between MTHFR C677T and carotid intima medial thickness progression in post-ischemic stroke patient (Annals of Translational Medicine, Volume 3 Suppl 2, September 2015)

Phenotype variation in untreated 46,XX congenital adrenal hyperplasia (Annals of Translational Medicine, Volume 3 Suppl 2, September 2015)

Profiling the serine threonine kinase phosphorylation of TGF-β1 stimulated fibroblast using peptide microarray (Annals of Translational Medicine, Volume 3 Suppl 2, September 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.

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.

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.

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. Mol Vis 2014 2;20:753-9. Epub 2014 Jun 2.

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.

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

Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia). J Clin Pathol 2013 Mar 25;66(3):198-204. Epub 2012 Dec 25.

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

Fragile X Syndrome: Clinical, Cytogenetics and Molecular Screening among Autism Spectrum Disorder Children in Indonesia. Clin Genet. 2013 Dec;84(6):577-80. doi: 10.1111/cge.12095. Epub 2013 Feb 20.

Virilization due to androgen hypersecretion in a patient with ovarian leydig cell tumor: diagnostic and psychosocial implications. Acta Med Indones 2013 Apr;45(2):130-5