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

door Pramukarso, Dodik T., Faradz, Sultana M.H., Sari, Stefani, Hadisaputro, Soeharyo
Gepubliceerd in Ann Transl Med (2015)

AB174. Genetic counseling in the couple with compound heterozygous carrier based on the result of mutation effect analysis on cystic fibrosis transmembrane conductance regulator (C...

door Permata Sari, Ariestya Indah, Farhat, Raed, Ladeveze, Véronique, Faradz, Sultana M. H., Kitzis, Alain
Gepubliceerd in Ann Transl Med (2015)

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

door Tan, Vivienne J., Lian, Mulias, Faradz, Sultana M.H., Winarni, Tri I., Chong, Samuel S.
Gepubliceerd in Front Genet (2018)

Methadone Use in a Male With the FMR1 Premutation and FXTAS

door Muzar, Zukhrofi, Lozano, Reymundo, Schneider, Andrea, Adams, Patrick E., Faradz, Sultana M.H., Tassone, Flora, Hagerman, Randi J.
Gepubliceerd in Am J Med Genet A (2015)

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

door Zada, Almira, Mundhofir, Farmaditya E. P., Pfundt, Rolph, Leijsten, Nico, Nillesen, Willy, Faradz, Sultana M. H., de Leeuw, Nicole
Gepubliceerd in 2014

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

door Ediati, Annastasia, Juniarto, A Zulfa, Birnie, Erwin, Okkerse, Jolanda, Wisniewski, Amy, Drop, Stenvert, Faradz, Sultana M H, Dessens, Arianne
Gepubliceerd in BMJ Paediatr Open (2017)

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

door Ediati, Annastasia, Verrips, Gijsbert H. W., Juniarto, Achmad Zulfa, Faradz, Sultana M. H., Drop, Stenvert L. S., Dessens, Arianne B.
Gepubliceerd in Front Pediatr (2019)

Identification of Expanded Alleles of the FMR1 Gene Among High-Risk Population in Indonesia by Using Blood Spot Screening

door Winarni, Tri Indah, Utari, Agustini, Mundhofir, Farmaditya E.P., Tong, Tzuhan, Durbin-Johnson, Blythe, Faradz, Sultana M.H., Tassone, Flora
Gepubliceerd in 2012

Toll-Like Receptor 4 Polymorphisms in Dengue Virus–Infected Children

door Djamiatun, Kis, Ferwerda, Bart, Netea, Mihai G., van der Ven, André J. A. M., Dolmans, Wil M. V., Faradz, Sultana M. H.
Gepubliceerd in 2011

Side Effects of Minocycline Treatment in Patients With Fragile X Syndrome and Exploration of Outcome Measures

door Utari, Agustini, Chonchaiya, Weerasak, Rivera, Susan M., Schneider, Andrea, Hagerman, Randi J., Faradz, Sultana M. H., Ethell, Iryna M., Nguyen, Danh V.
Gepubliceerd in 2010

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

door Mundhofir, Farmaditya E. P., Yntema, Helger G., van der Burgt, Ineke, Hamel, Ben C. J., Faradz, Sultana M. H., van Bon, Bregje W. M.
Gepubliceerd in 2012

Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene

door Lim, Grace X. Y., Yeo, Minli, Koh, Yvonne Y., Winarni, Tri Indah, Rajan-Babu, Indhu-Shree, Chong, Samuel S., Faradz, Sultana M. H., Guan, Ming
Gepubliceerd in PLoS One (2017)

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family

door Siemiatkowska, Anna M., Astuti, Galuh D.N., Arimadyo, Kentar, den Hollander, Anneke I., Faradz, Sultana M.H., Cremers, Frans P.M., Collin, Rob W.J.
Gepubliceerd in 2012

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

door Ayers, Katie L., Bouty, Aurore, Robevska, Gorjana, van den Bergen, Jocelyn A., Juniarto, Achmad Zulfa, Listyasari, Nurin Aisyiyah, Sinclair, Andrew H., Faradz, Sultana M. H.
Gepubliceerd in Hum Genomics (2017)

Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46, XY diff...

door Ayers, Katie, van den Bergen, Jocelyn, Robevska, Gorjana, Listyasari, Nurin, Raza, Jamal, Atta, Irum, Riedl, Stefan, Rothacker, Karen, Choong, Catherine, Faradz, Sultana M H, Sinclair, Andrew
Gepubliceerd in J Med Genet (2019)

Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias

door Bouty, Aurore, Walton, Kelly, Listyasari, Nurin Aisyiyah, Robevska, Gorjana, Van den Bergen, Jocelyn, Santosa, Ardy, Faradz, Sultana M H, Harrison, Craig, Ayers, Katie L, Sinclair, Andrew H
Gepubliceerd in J Endocr Soc (2019)

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa

door Khan, Muhammad Imran, Collin, Rob W.J., Arimadyo, Kentar, Micheal, Shazia, Azam, Maleeha, Qureshi, Nadeem, Faradz, Sultana M.H., den Hollander, Anneke I., Qamar, Raheel, Cremers, Frans P.M.
Gepubliceerd in 2010

Imbalance of Angiopoietin-1 and Angiopoetin-2 in Severe Dengue and Relationship with Thrombocytopenia, Endothelial Activation, and Vascular Stability

door Michels, Meta, van der Ven, André J. A. M., Djamiatun, Kis, Fijnheer, Rob, de Groot, Philip G., Griffioen, Arjan W., Sebastian, Silvie, Faradz, Sultana M. H., de Mast, Quirijn
Gepubliceerd in 2012

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

door Astuti, Galuh D N, Bertelsen, Mette, Preising, Markus N, Ajmal, Muhammad, Lorenz, Birgit, Faradz, Sultana M H, Qamar, Raheel, Collin, Rob W J, Rosenberg, Thomas, Cremers, Frans P M
Gepubliceerd in Eur J Hum Genet (2016)

Severe Dengue Is Associated with Consumption of von Willebrand Factor and Its Cleaving Enzyme ADAMTS-13

door Djamiatun, Kis, van der Ven, Andre J. A. M., de Groot, Philip G., Faradz, Sultana M. H., Hapsari, D., Dolmans, Wil M. V., Sebastian, Silvie, Fijnheer, Rob, de Mast, Quirijn
Gepubliceerd in 2012