Zobrazeno 1 - 10
of 1 806
pro vyhledávání: '"Sultana M"'
Autor:
Bas P. H. Adriaansen, Agustini Utari, Dineke Westra, Achmad Zulfa Juniarto, Mahayu Dewi Ariani, Annastasia Ediati, Mariska A. M. Schröder, Paul N. Span, Fred C. G. J. Sweep, Stenvert L. S. Drop, Sultana M. H. Faradz, Antonius E. van Herwaarden, Hedi L. Claahsen – van der Grinten
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionCongenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) is characterized by underproduction of cortisol and overproduction of adrenal androgens. These androgens lead to a variable
Externí odkaz:
https://doaj.org/article/48f6cb3fd87c455992e4f56a2d178f4c
Autor:
Ferdy K. Cayami, Lauria Claeys, Ruben de Ruiter, Bernard J. Smilde, Lisanne Wisse, Natalija Bogunovic, Elise Riesebos, Lyra Eken, Irsan Kooi, Erik A. Sistermans, Nathalie Bravenboer, Gerard Pals, Sultana M. H. Faradz, Daoud Sie, E. Marelise W. Eekhoff, Dimitra Micha
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Abstract Inherited bone disorders account for about 10% of documented Mendelian disorders and are associated with high financial burden. Their study requires osteoblasts which play a critical role in regulating the development and maintenance of bone
Externí odkaz:
https://doaj.org/article/ec27bfcaec5d48d0b6b4702e67ab9e61
Autor:
Agustini Utari, Sultana M. H. Faradz, Annastasia Ediati, Tuula Rinne, Mahayu Dewi Ariani, Achmad Zulfa Juniarto, Stenvert L. S. Drop, Antonius E. van Herwaarden, Hedi L. Claahsen-van der Grinten
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/ce4b741b20ce4917988723949ffa991e
Autor:
Agustini Utari, Sultana M. H. Faradz, Annastasia Ediati, Tuula Rinne, Mahayu Dewi Ariani, Achmad Zulfa Juniarto, Stenvert L. S. Drop, Antonius E. van Herwaarden, Hedi L. Claahsen-van der Grinten
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundCongenital Adrenal Hyperplasia (CAH) due to CYP11B1 is a rare autosomal recessive adrenal disorder that causes a decrease in cortisol production and accumulation of adrenal androgens and steroid precursors with mineralocorticoid activity. C
Externí odkaz:
https://doaj.org/article/e94d861b785e45af89f1526df02732e8
Autor:
Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Gorjana Robevska, Katie L. Ayers, Andrew H. Sinclair, Sultana M. H. Faradz
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-9 (2021)
Abstract Background Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degrees of undermasculinization in 46, XY individuals. The aim of this study was to investigate the frequency of path
Externí odkaz:
https://doaj.org/article/758aa830214f4b03ae347b51919c0a3a
Autor:
Jocelyn A. van denBergen, Gorjana Robevska, Stefanie Eggers, Stefan Riedl, Sonia R. Grover, Philip B. Bergman, Chris Kimber, Ashish Jiwane, Sophy Khan, Csilla Krausz, Jamal Raza, Irum Atta, Susan R. Davis, Makato Ono, Vincent Harley, Sultana M. H. Faradz, Andrew H. Sinclair, Katie L. Ayers
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract 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 transcription of genes in a number of developmental systems. Recent evidence has
Externí odkaz:
https://doaj.org/article/0b7ed663d79b487fb8a75c6425c8bb12
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
Autor:
Ferdy K. Cayami, Alessandra Maugeri, Sanne Treurniet, Eva D. Setijowati, Bernd P. Teunissen, Elisabeth M.W. Eekhoff, Gerard Pals, Sultana M. Faradz, Dimitra Micha
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Osteogenesis imperfecta (OI) is a clinically heterogeneous disease characterized by extreme skeletal fragility. It is caused by mutations in genes frequently affecting collagen biosynthesis. Mutations in CREB3L1 encoding the ER st
Externí odkaz:
https://doaj.org/article/56d950aadbc1414080537d9c8faa112d
Autor:
Annastasia Ediati, Gijsbert H. W. Verrips, Achmad Zulfa Juniarto, Sultana M. H. Faradz, Stenvert L. S. Drop, Arianne B. Dessens
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2019)
Background: Patients with a disorder of sex development (DSD) are born with atypical genitals or may develop atypical genitals and atypical body appearance, if left untreated. Health related quality of life (HRQoL) was assessed in Indonesian patients
Externí odkaz:
https://doaj.org/article/645ac9a4764e4904baf4159b6a6b465e
Autor:
Olivier, A., Cai, T., Akhter, S., Dar, Z. Ahmad, Ansari, V., Ascencio, M. V., Athar, M. Sajjad, Bashyal, A., Bercellie, A., Betancourt, M., Bonilla, J. L., Bravar, A., Budd, H., Caceres, G., Díaz, G. A., Felix, J., Fields, L., Filkins, A., Fine, R., Gago, A. M., Gaur, P. K., Gilligan, S. M., Gran, R., Granados, E., Harris, D. A., Hart, A. L., Jena, D., Jena, S., Kleykamp, J., Klustová, A., Kordosky, M., Last, D., Lozano, A., Lu, X. -G., Manly, S., Mann, W. A., Mauger, C., McFarland, K. S., Messerly, B., Moreno, O., Morfín, J. G., Naples, D., Nelson, J. K., Nguyen, C., Paolone, V., Perdue, G. N., Pernas, C., Plows, K. -J., Ramírez, M. A., Ray, H., Roy, N., Ruterbories, D., Schellman, H., Salinas, C. J. Solano, Sultana, M., Syrotenko, V. S., Valencia, E., Vaughan, N. H., Waldron, A. V., Yaeggy, B., Zazueta, L.
Neutron production in antineutrino interactions can lead to bias in energy reconstruction in neutrino oscillation experiments, but these interactions have rarely been studied. MINERvA previously studied neutron production at an average antineutrino e
Externí odkaz:
http://arxiv.org/abs/2310.17014
Publikováno v:
Risk Management and Healthcare Policy, Vol 2016, Iss Issue 1, Pp 13-20 (2016)
Marufa Sultana,1 Rashidul Alam Mahumud,1 Abdur Razzaque Sarker,1 Sarder Mahmud Hossain,21Health Economics and Financing Research Group, Centre for Equity and Health System (CEHS), International Centre for Diarrhoeal Disease Research, Bangladesh, 2Dep
Externí odkaz:
https://doaj.org/article/c88b7561b1db4ec3a10cb8d1967f7a58