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

por Pramukarso, Dodik T., Faradz, Sultana M.H., Sari, Stefani, Hadisaputro, Soeharyo
Publicado en 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...

por Permata Sari, Ariestya Indah, Farhat, Raed, Ladeveze, Véronique, Faradz, Sultana M. H., Kitzis, Alain
Publicado en Ann Transl Med (2015)

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

por Tan, Vivienne J., Lian, Mulias, Faradz, Sultana M.H., Winarni, Tri I., Chong, Samuel S.
Publicado en Front Genet (2018)

Methadone Use in a Male With the FMR1 Premutation and FXTAS

por Muzar, Zukhrofi, Lozano, Reymundo, Schneider, Andrea, Adams, Patrick E., Faradz, Sultana M.H., Tassone, Flora, Hagerman, Randi J.
Publicado en 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

por 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
Publicado en PLoS One (2017)

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

por 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.
Publicado 2012

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

por 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.
Publicado en 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...

por 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
Publicado en 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

por 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
Publicado en 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

por 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.
Publicado 2010

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

por 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
Publicado 2012

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

por 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
Publicado en Eur J Hum Genet (2016)

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

por 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
Publicado 2012