Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Nanis S. Marzuki"'
Autor:
Nanis S. Marzuki, Hannie D. Kartapradja, Farah N. Coutrier, Irfan Wahyudi, Jose R.L. Batubara
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 28, Iss 2, Pp 197-200 (2024)
Introduction: One of the common causes of 46,XY differences in sex development (DSD) cases is androgen insensitivity syndrome. This X-linked recessive inherited condition is associated with pathological variations of the AR gene, leading to defects i
Externí odkaz:
https://doaj.org/article/2c9d5f2313544804a87e7b7f467bd653
Autor:
Bagas A. Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R. L. Batubara, Alida R. Harahap, Nanis S. Marzuki
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-7 (2018)
Abstract Background A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chrom
Externí odkaz:
https://doaj.org/article/a7ace38b9dff46e4b88d067116953191
Autor:
Nanis S. Marzuki, Firman P. Idris, Hannie D. Kartapradja, Alida R. Harahap, Jose R. L. Batubara
Publikováno v:
International Journal of Endocrinology, Vol 2019 (2019)
The 5-alpha-reductase type 2 deficiency (5ARD2) is an autosomal recessive condition associated with impairment in the conversion of testosterone to dihydrotestosterone. This condition leads to undervirilisation in 46,XY individuals. To date, there ha
Externí odkaz:
https://doaj.org/article/17beddce99ee45b2b94d1e91957b58bd
Publikováno v:
Sari Pediatri, Vol 13, Iss 6, Pp 391-6 (2016)
Latar belakang.Gangguan perkembangan sistem reproduksi 46,XY (GPSR 46,XY) bermanifestasi klinis beranekaragam, sehingga dapat dibesarkan sebagai anak laki-laki atau perempuan. Tujuan. Melihat sebaran cara pengasuhan individu dengan GPSR 46,XY dan dih
Externí odkaz:
https://doaj.org/article/2cdaf4f0c0684f3e90f80bf8c332aa54
Publikováno v:
WMJ (Warmadewa Medical Journal), Vol 1, Iss 1, Pp 1-9 (2016)
Diagnosis prenatal adalah teknik diagnostik untuk menentukan kondisi fetus yang belum lahir apakah memiliki kelainan genetik ataupun kelainan lainnya. Teknik ini umumnya dilakukan pada penyakit genetik yang tidak dapat diobati di mana terminasi menja
Externí odkaz:
https://doaj.org/article/7ca3c582f22148619f1236880237eaf5
Autor:
Nanis S. Marzuki, Elizabeth Yohmi, Eveline Nainggolan, Badriul Hegar, Hanifah Oswari, I Gusti Ayu Nyoman Partiwi
Publikováno v:
Paediatrica Indonesiana, Vol 54, Iss 1, Pp 35-41 (2014)
Background Despite the WHO and UNICEF recorrunendations, the well-known breastfeeding benefits, and the efforts to promote and support breastfeeding; exclusive breastfeeding by Indonesian mothers remains low and contributes to high infant mortality r
Externí odkaz:
https://doaj.org/article/90ccf5c3c2cd4350bcbcd6bcc6340c45
Autor:
Elizabeth Thompson, Remko Hersmus, Antony R Lafferty, Nanis S Marzuki, Thomas Ohnesorg, Sultana M.H. Faradz, Jocelyn van den Bergen, Andrew H. Sinclair, Nurin Aisyiyah Listyasari, Katie L. Ayers, Anne Baxendale, Leendert H. J. Looijenga, Stefan Riedl, Ardy Santosa, Garry L. Warne, Charles F. Verge, Gorjana Robevska, Stefanie Eggers, Chloe Hanna
Publikováno v:
Human Mutation
Human Mutation, 39(1), 124-139. Wiley-Liss Inc.
Human Mutation, 39(1), 124-139. Wiley-Liss Inc.
Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd44689e2862b50f9d33bc5bec63ecb4
https://doi.org/10.1002/humu.23354
https://doi.org/10.1002/humu.23354
Autor:
Jose Rl Batubara, Chrysantine Paramayuda, Alida Harahap, Bagas A. Marsudi, Hannie Kartapradja, Nanis S Marzuki
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-7 (2018)
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-7 (2018)
Background A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::219951c98aba114a803f365d4093bbae
https://doi.org/10.1186/s13039-018-0379-z
https://doi.org/10.1186/s13039-018-0379-z
Autor:
Chrysantine Paramayuda, Mark D. Pertile, Nanis S Marzuki, Lita P Suciati, Harry Lesmana, Firman P. Idris, Hannie Kartapradja, Debby D Ambarwati, Helena W Anggaratri, Hidayat Trimarsanto, David Francis, Alida Harahap
Publikováno v:
Case Reports in Genetics
Case Reports in Genetics, Vol 2015 (2015)
Case Reports in Genetics, Vol 2015 (2015)
We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7462382cf02ea8f8eaab3800d2020710
http://europepmc.org/articles/PMC4333187
http://europepmc.org/articles/PMC4333187
Publikováno v:
WMJ (Warmadewa Medical Journal). 1:1
Diagnosis prenatal adalah teknik diagnostik untuk menentukan kondisi fetus yang belum lahir apakah memiliki kelainan genetik ataupun kelainan lainnya. Teknik ini umumnya dilakukan pada penyakit genetik yang tidak dapat diobati di mana terminasi menja
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f4088b3fc5b6e39178056ef3f42c25a
https://doi.org/10.22225/wmj.1.1.4.1-9
https://doi.org/10.22225/wmj.1.1.4.1-9