Search Results - "Faradz, Sultana M H"

Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate by Cayami, Ferdy K., Claeys, Lauria, de Ruiter, Ruben, Smilde, Bernard J., Wisse, Lisanne, Bogunovic, Natalija, Riesebos, Elise, Eken, Lyra, Kooi, Irsan, Sistermans, Erik A., Bravenboer, Nathalie, Pals, Gerard, Faradz, Sultana M. H., Sie, Daoud, Eekhoff, E. Marelise W., Micha, Dimitra

“…Inherited bone disorders account for about 10% of documented Mendelian disorders and are associated with high financial burden. Their study requires…”
Get full text

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

“…In the present study, we evaluated a commercially available TP-PCR-based assay, the FastFraXTM FMR1 Sizing kit, as a test in quantifying the number of CGG…”
Get full text

Immune-mediated disorders among women carriers of fragile X premutation alleles by Winarni, Tri Indah, Chonchaiya, Weerasak, Sumekar, Tanjung Ayu, Ashwood, Paul, Morales, Guadalupe Mendoza, Tassone, Flora, Nguyen, Danh V., Faradz, Sultana M.H., Van de Water, Judy, Cook, Kylee, Hamlin, Alyssa, Mu, Yi, Hagerman, Paul J., Hagerman, Randi J.

“…The relative risk of immune‐mediated disorders (IMDs) among women carriers of premutation alleles is estimated by a survey for IMDs among 344 carrier women…”
Get full text

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development by Bergen, Jocelyn A., Robevska, Gorjana, Eggers, Stefanie, Riedl, Stefan, Grover, Sonia R., Bergman, Philip B., Kimber, Chris, Jiwane, Ashish, Khan, Sophy, Krausz, Csilla, Raza, Jamal, Atta, Irum, Davis, Susan R., Ono, Makato, Harley, Vincent, Faradz, Sultana M. H., Sinclair, Andrew H., Ayers, Katie L.

“…Background GATA‐binding protein 4 (GATA4) and Friend of GATA 2 protein (FOG2, also known as ZFPM2) form a heterodimer complex that has been shown to influence…”
Get full text

Severe dengue is associated with consumption of von Willebrand factor and its cleaving enzyme ADAMTS-13 by 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

“…Thrombocytopenia, bleeding and plasma leakage are cardinal features of severe dengue. Endothelial cell activation with exocytosis of Weibel-Palade bodies…”
Get full text

Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries by Waaijers, Selma, Utari, Agustini, Doelen, Rick H. A., Faradz, Sultana M. H., Hensen‐Lodewijk, Renate, Olthaar, Andre J., Geutjes, Paul J., Sweep, Fred C., Claahsen‐van der Grinten, Hedi L., Herwaarden, Antonius E.

“…Objective Patients with congenital adrenal hyperplasia (CAH) in developing countries have limited access to appropriate laboratory facilities for diagnosis and…”
Get full text

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections by Micha, Dimitra, Guo, Dong-chuan, Hilhorst-Hofstee, Yvonne, van Kooten, Fop, Atmaja, Dian, Overwater, Eline, Cayami, Ferdy K., Regalado, Ellen S., van Uffelen, René, Venselaar, Hanka, Faradz, Sultana M.H., Vriend, Gerrit, Weiss, Marjan M., Sistermans, Erik A., Maugeri, Alessandra, Milewicz, Dianna M., Pals, Gerard, van Dijk, Fleur S.

“…ABSTRACT We report three families with arterial aneurysms and dissections in which variants predicted to be pathogenic were identified in SMAD2. Moreover, one…”
Get full text

46,XX males with congenital adrenal hyperplasia: a clinical and biochemical description by Adriaansen, Bas P H, Utari, Agustini, Westra, Dineke, Juniarto, Achmad Zulfa, Ariani, Mahayu Dewi, Ediati, Annastasia, Schröder, Mariska A M, Span, Paul N, Sweep, Fred C G J, Drop, Stenvert L S, Faradz, Sultana M H, van Herwaarden, Antonius E, Claahsen-van der Grinten, Hedi L

“…Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) is characterized by underproduction of…”
Get full text

Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country by Utari, Agustini, Faradz, Sultana M H, Ediati, Annastasia, Rinne, Tuula, Ariani, Mahayu Dewi, Juniarto, Achmad Zulfa, Drop, Stenvert L S, van Herwaarden, Antonius E, Claahsen-van der Grinten, Hedi L

“…[This corrects the article DOI: 10.3389/fendo.2022.1015973.]…”
Get full text

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism by Sihombing, Nydia Rena Benita, Winarni, Tri Indah, Bokhoven, Hans, Burgt, Ineke, Leeuw, Nicole, Faradz, Sultana M. H.

“…We present a family with three girls presenting similar dysmorphic features, including overgrowth, intellectual disability, macrocephaly, prominent forehead,…”
Get full text

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country by Utari, Agustini, Faradz, Sultana M H, Ediati, Annastasia, Rinne, Tuula, Ariani, Mahayu Dewi, Juniarto, Achmad Zulfa, Drop, Stenvert L S, van Herwaarden, Antonius E, Claahsen-van der Grinten, Hedi L

“…Congenital Adrenal Hyperplasia (CAH) due to CYP11B1 is a rare autosomal recessive adrenal disorder that causes a decrease in cortisol production and…”
Get full text

Imbalance of Angiopoietin-1 and Angiopoetin-2 in Severe Dengue and Relationship with Thrombocytopenia, Endothelial Activation, and Vascular Stability by MICHELS, Meta, VAN DER VEN, André J. A. M. Van, DJAMIATUN, Kis, FIJNHEER, Rob, DE GROOT, Philip G, GRIFFIOEN, Arjan W, SEBASTIAN, Silvie, FARADZ, Sultana M. H, DE MAST, Quirijn

“…The pathogenesis of plasma leakage during dengue hemorrhagic fever/dengue shock syndrome (DHF/DSS) is largely unknown. Angiopoietins are key regulators of…”
Get full text

Side Effects of Minocycline Treatment in Patients with Fragile X Syndrome and Exploration of Outcome Measures by Utari, Agustini, Chonchaiya, Weerasak, Rivera, Susan M, Schneider, Andrea, Hagerman, Randi J, Faradz, Sultana M. H, Ethell, Iryna M, Nguyen, Danh V

“…Minocycline can rescue the dendritic spine and synaptic structural abnormalities in the fragile X knock-out mouse. This is a review and preliminary survey to…”
Get more information

High plasma mid-regional pro-adrenomedullin levels in children with severe dengue virus infections by Michels, Meta, Djamiatun, Kis, Faradz, Sultana M.H, Koenders, Mieke M.J.F, de Mast, Quirijn, van der Ven, André J.A.M

“…Abstract Background Dengue hemorrhagic fever/dengue shock syndrome (DHF/DSS) is characterized by hemorrhage, plasma leakage and shock. Adrenomedullin and…”
Get full text

Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads by Cools, Martine, Stoop, Hans, Kersemaekers, Anne-Marie F., Drop, Stenvert L. S., Wolffenbuttel, Katja P., Bourguignon, Jean-Pierre, Slowikowska-Hilczer, Jolanta, Kula, Krzysztof, Faradz, Sultana M. H., Oosterhuis, J. Wolter, Looijenga, Leendert H. J.

“…Purpose: The purpose of the study was to define the histological origin of gonadoblastomas, allowing the identification of high-risk patients. Experimental…”
Get full text

Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development by Ediati, Annastasia, Juniarto, Achmad Zulfa, Birnie, Erwin, Drop, Stenvert L. S., Faradz, Sultana M. H., Dessens, Arianne B.

“…In most Western countries, clinical management of disorders of sex development (DSD), including ambiguous genitalia, begins at diagnosis soon after birth. For…”
Get full text

Analysis of the androgen receptor gene in a cohort of Indonesian undermasculinized 46, XY DSD patients by Listyasari, Nurin Aisyiyah, Juniarto, Achmad Zulfa, Robevska, Gorjana, Ayers, Katie L, Sinclair, Andrew H, Faradz, Sultana M. H

“…Background Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degrees of undermasculinization in…”
Get full text

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

“…Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In…”
Get full text

Methadone use in a male with the FMRI premutation and FXTAS by Muzar, Zukhrofi, Lozano, Reymundo, Schneider, Andrea, Adams, Patrick E., Faradz, Sultana M.H., Tassone, Flora, Hagerman, Randi J.

“…The fragile X‐associated tremor ataxia syndrome (FXTAS) is caused by the premutation in FMR1 gene. Recent reports of environmental toxins appear to worsen the…”
Get full text

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 by Eggers, Stefanie, Smith, Katherine R, Bahlo, Melanie, Looijenga, Leendert H J, Drop, Stenvert L S, Juniarto, Zulfa A, Harley, Vincent R, Koopman, Peter, Faradz, Sultana M H, Sinclair, Andrew H

“…Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for…”
Get full text