Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes
Tucker, Elena J, Bell, Katrina M, Robevska, Gorjana, van den Bergen, Jocelyn, Ayers, Katie L, Listyasari, Nurin, Faradz, Sultana Mh, Dulon, Jérôme, Bakhshalizadeh, Shabnam, Sreenivasan, Rajini, Nouyou, Benedicte, Carre, Wilfrid, Akloul, Linda, Duros, Solène, Domin-Bernhard, Mathilde, Belaud-Rotureau, Marc-Antoine, Touraine, Philippe, Jaillard, Sylvie, Sinclair, Andrew H
Published in European journal of human genetics : EJHG (01.02.2022)
Published in European journal of human genetics : EJHG (01.02.2022)
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Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development
Robevska, Gorjana, den Bergen, Jocelyn A., Ohnesorg, Thomas, Eggers, Stefanie, Hanna, Chloe, Hersmus, Remko, Thompson, Elizabeth M., Baxendale, Anne, Verge, Charles F., Lafferty, Antony R., Marzuki, Nanis S., Santosa, Ardy, Listyasari, Nurin A., Riedl, Stefan, Warne, Garry, Looijenga, Leendert, Faradz, Sultana, Ayers, Katie L., Sinclair, Andrew H.
Published in Human mutation (01.01.2018)
Published in Human mutation (01.01.2018)
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Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia
Listyasari, Nurin A., Robevska, Gorjana, Santosa, Ardy, Bouty, Aurore, Juniarto, AZ, van den Bergen, Jocelyn, Ayers, Katie L., Sinclair, Andrew H., Faradz, Sultana MH
Published in Journal of investigative surgery (07.02.2021)
Published in Journal of investigative surgery (07.02.2021)
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Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center
Faradz, Sultana M.H., Listyasari, Nurin, Utari, Agustini, Ariani, Mahayu Dewi, Juniarto, Achmad Zulfa, Santosa, Ardy, Ediati, Annastasia, Rinne, Tuula K, Westra, Dineke, Claahsen-van der Grinten, Hedi, de Jong, Frank H, Drop, Stenvert L.S., Ayers, Katie, Sinclair, Andrew
Published in Sexual development (2023)
Published in Sexual development (2023)
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Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys
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
Published in Human genomics (16.02.2017)
Published in Human genomics (16.02.2017)
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SRY-negative in 46, XX Male Testicular DSD: a case report
Listyasari, Nurin Aisyiyah, Santosa, Ardy, Juniarto, Achmad Zulfa
Published in Journal of biomedicine and translational research (Semarang) (31.12.2020)
Published in Journal of biomedicine and translational research (Semarang) (31.12.2020)
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Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients
Listyasari, Nurin Aisyiyah, Juniarto, Achmad Zulfa, Robevska, Gorjana, Ayers, Katie L., Sinclair, Andrew H., Faradz, Sultana M. H.
Published in Egyptian Journal of Medical Human Genetics (18.02.2021)
Published in Egyptian Journal of Medical Human Genetics (18.02.2021)
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Unraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report
Susanti, Ni Made Indri Dwi, Mulyantoro, Inu, Puspasari, Dik, Listyasari, Nurin Aisyiyah, Faradz, Sultana MH
Published in Journal of biomedicine and translational research (Semarang) (30.04.2020)
Published in Journal of biomedicine and translational research (Semarang) (30.04.2020)
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Autosomal Recessive Limb Girdle Muscular Dystrophy In A Complex Consanguineous Family: The First Cases Series In Indonesia
Sihombing, Nydia Rena Benita, Listyasari, Nurin Aisyiyah, Faradz, Sultana MH
Published in Journal of biomedicine and translational research (Semarang) (31.12.2017)
Published in Journal of biomedicine and translational research (Semarang) (31.12.2017)
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Journal Article
Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country
Listyasari, Nurin Aisyiyah, Santosa, Ardy, Juniarto, Achmad Zulfa, Faradz, Sultana MH
Published in Journal of biomedicine and translational research (Semarang) (23.06.2017)
Published in Journal of biomedicine and translational research (Semarang) (23.06.2017)
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New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing
Jaillard, Sylvie, Bell, Katrina, Akloul, Linda, Walton, Kelly, McElreavy, Kenneth, Stocker, William A., Beaumont, Marion, Harrisson, Craig, Jääskeläinen, Tiina, Palvimo, Jorma J., Robevska, Gorjana, Launay, Erika, Satié, Anne-Pascale, Listyasari, Nurin, Bendavid, Claude, Sreenivasan, Rajini, Duros, Solène, van den Bergen, Jocelyn, Henry, Catherine, Domin-Bernhard, Mathilde, Cornevin, Laurence, Dejucq-Rainsford, Nathalie, Belaud-Rotureau, Marc-Antoine, Odent, Sylvie, Ayers, Katie L., Ravel, Célia, Tucker, Elena J., Sinclair, Andrew H.
Published in Maturitas (01.11.2020)
Published in Maturitas (01.11.2020)
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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 differences of sex development
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
Published in Journal of medical genetics (01.07.2019)
Published in Journal of medical genetics (01.07.2019)
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Ten years of in vitro fertilization in Indonesia: Access to infertility care in a developing country
Wiweko, Budi, Mansyur, Eliza, Yuningsih, Tita, Sini, Ivan, Silvana, Vita, Maidarti, Mila, Harzif, Achmad Kemal, Pratama, Gita, Sumapraja, Kanadi, Muharam, Raden, Hestiantoro, Andon, Soebijanto, Soegiharto, Listyasari, Nurin Aisyiyah, Sirait, Batara, Hendarto, Hendy, Djuwantono, Tono, Halim, Binarwan, Angsar, Ilyas, Abdullah, Nusratuddin, Adnyana, Putra, Widad, Shofwal, Samsulhadi, Samsulhadi, Hidayat, Syarief Thaufik, Bayuaji, Hartanto, Permadi, Wiryawan, Hendry, Dedy, Lubis, Syahnural, Iffanolida, Pritta Ameilia, Mutia, Kresna, Septyani, Tri, Siregar, Fahreza Akbar, Khairani, Namira, Jovito, Axel, Hayatunnufus, Yuli, Cahya, Ni Putu, Yulinda, Dafi, Susanto, Sarah, Azzahra, Tiara Berliana
Published in International journal of gynecology and obstetrics (01.06.2024)
Published in International journal of gynecology and obstetrics (01.06.2024)
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Functional characterization of novelᅡ NR5A1ᅡ variants reveals multiple complex roles in disorders of sex development
Robevska, Gorjana, den Bergen, Jocelyn A, Ohnesorg, Thomas, Eggers, Stefanie, Hanna, Chloe, Hersmus, Remko, Thompson, Elizabeth M, Baxendale, Anne, Verge, Charles F, Lafferty, Antony R, Marzuki, Nanis S, Santosa, Ardy, Listyasari, Nurin A, Riedl, Stefan, Warne, Garry, Looijenga, Leendert, Faradz, Sultana, Ayers, Katie L, Sinclair, Andrew H
Published in Human mutation (01.01.2018)
Published in Human mutation (01.01.2018)
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Erratum: The use of high-resolution melting techniques for mutation screening of diseases caused by trinucleotide repeats expansion, with emphasis on the AR gene
Juniarto, Achmad Zulfa, Ariani, Mahayu Dewi, Harumsari, Stefani, Listyasari, Nurin Aisyiyah, Hardian, Utari, Agustini, Faradz, Sultana Muhammad Hussein
Published in Medical journal of Indonesia (02.07.2020)
Published in Medical journal of Indonesia (02.07.2020)
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