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Items: 1 to 20 of 160

1.
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
Alaa Abu Diab, Ala’a AlTalbishi, Boris Rosin, Moien Kanaan, Lara Kamal, Anand Swaroop, Itay Chowers, Eyal Banin, Dror Sharon, Samer Khateb
Acta Ophthalmol. Author manuscript; available in PMC 2024 Sep 5.
Published in final edited form as: Acta Ophthalmol. 2019 Sep; 97(6): e877–e886. Published online 2019 Mar 29. doi: 10.1111/aos.14095
PMCID:
PMC11377105
ArticlePDF–874K
2.
Orphan nuclear receptor DAX‐1 in human endometrium and its disorders
Sumika Saito, Kiyoshi Ito, Takashi Suzuki, Hiroki Utsunomiya, Jun‐ichi Akahira, Youko Sugihashi, Hitoshi Niikura, Kunihiro Okamura, Nobuo Yaegashi, Hironobu Sasano
Cancer Sci. 2005 Oct; 96(10): 645–652. Published online 2005 Oct 13. doi: 10.1111/j.1349-7006.2005.00101.x
PMCID:
PMC11159144
ArticlePDF–213K
3.
DAX-1, an ‘antitestis’gene
P. N. Goodfellow, G. Camerino
Cell Mol Life Sci. 1999 Jun; 55(6-7): 857–863. doi: 10.1007/PL00013201
PMCID:
PMC11147076
PDF–89K
4.
Novel STAR Gene Variant of Congenital Lipoid Adrenal Hyperplasia With Testicular Adrenal Rests
Chittari Venkata Harinarayan, Halkurke Shivashankariah Vikram, Anisha Sawkar Tandon, Marsha Zacharia, Shabnam Roohi, Raghu Janardhan
JCEM Case Rep. 2024 Jun; 2(6): luae089. Published online 2024 May 27. doi: 10.1210/jcemcr/luae089
PMCID:
PMC11128940
ArticlePDF–3.4M
5.
Central precocious puberty in a boy with X-linked adrenoleukodystrophy caused by a novel ABCD1 mutation
Chaoyue Zhao, Hanhong Zhu, Jie Wang, Wenlong Liu, Yongzhen Xue, Yanyan Hu
Heliyon. 2024 Apr 15; 10(7): e28987. Published online 2024 Mar 28. doi: 10.1016/j.heliyon.2024.e28987
PMCID:
PMC11002235
ArticlePDF–2.2M
6.
Prenatal Features of MIRAGE Syndrome—Case Report and Review of the Literature
Anca Maria Panaitescu, Iulia Huluță, Gabriel-Petre Gorecki, Luminita Nicoleta Cima, Vlad M. Voiculescu, Florina Mihaela Nedelea, Nicolae Gică
Children (Basel) 2024 Mar; 11(3): 310. Published online 2024 Mar 5. doi: 10.3390/children11030310
PMCID:
PMC10969181
ArticlePDF–758K
7.
Pseudo-hypertriglyceridemia in a 2-year-old male with global developmental delay, myopathy and adrenal hypoplasia
Xiaowei Fu, Claire P. Williamson, Kerri Bosfield
J Mass Spectrom Adv Clin Lab. 2024 Apr; 32: 47–49. Published online 2024 Feb 20. doi: 10.1016/j.jmsacl.2024.02.004
PMCID:
PMC10900099
ArticlePDF–1.4M
8.
A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate
Aysenur Kardas Yildiz, Ali Bulbul, Buse Ozer Bekmez, Ayberk Turkyilmaz, Kerem Terali, Aydilek Dagdeviren Cakir, Ahmet Ucar
Mol Syndromol. 2024 Feb; 15(1): 77–82. Published online 2023 Oct 2. doi: 10.1159/000533986
PMCID:
PMC10862318
ArticlePDF–637K
9.
Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene
Daniel Bravo Nieto, Alba S. García Fernández, Noelia Díaz Troyano, Marina Giralt Arnaiz, Andrea Arias García, Paula Fernández Álvarez, Ariadna Campos Martorell, Roser Ferrer Costa, María Clemente León
Adv Lab Med. 2023 Jun; 4(2): 195–198. Published online 2023 Mar 15. doi: 10.1515/almed-2023-0018
Adv Lab Med. 2023 Jun; 4(2): 199–202.
PMCID:
PMC10701479
ArticlePDF–338K
10.
Hypoglycaemia in adrenal insufficiency
Shien Chen Lee, Elizabeth S. Baranowski, Rajesh Sakremath, Vrinda Saraff, Zainaba Mohamed
Front Endocrinol (Lausanne) 2023; 14: 1198519. Published online 2023 Nov 20. doi: 10.3389/fendo.2023.1198519
PMCID:
PMC10694272
ArticlePDF–566K
11.
Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome
Anna Go, Beom Hee Lee, Jin-Ho Choi, Jiyoon Jeong, Euiseok Jung, Byong Sop Lee
Front Endocrinol (Lausanne) 2023; 14: 1242387. Published online 2023 Sep 6. doi: 10.3389/fendo.2023.1242387
PMCID:
PMC10516543
ArticlePDF–1.8M
12.
Inhibition of GLI Transcriptional Activity and Prostate Cancer Cell Growth and Proliferation by DAX1
Sung Pyo Hong, Kil Won Kim, Soon Kil Ahn
Curr Issues Mol Biol. 2023 Jul; 45(7): 5347–5361. Published online 2023 Jun 27. doi: 10.3390/cimb45070339
PMCID:
PMC10378570
ArticlePDF–12M
13.
CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and review of literature
Jie Li, Li-Na Chen, Hai-Lan He
World J Clin Cases. 2023 Jul 6; 11(19): 4655–4663. Published online 2023 Jul 6. doi: 10.12998/wjcc.v11.i19.4655
PMCID:
PMC10353515
ArticlePDF–3.6M
14.
New insights into X‐linked adrenal hypoplasia congenita from a novel splice‐site variant of NR0B1 and adrenal CT images
Yuqing Jiang, Huifang Peng, Rui Zhao, Yina Chang, Jie Liu, Liujun Fu, Liping Li, Yujin Ma, Wei Li, Hongwei Jiang
Mol Genet Genomic Med. 2023 Jun; 11(6): e2171. Published online 2023 Apr 28. doi: 10.1002/mgg3.2171
PMCID:
PMC10265046
ArticlePDF–1.6M
15.
Investigation of Flavonoid Scaffolds as DAX1 Inhibitors against Ewing Sarcoma through Pharmacoinformatic and Dynamic Simulation Studies
Muhammad Yasir, Jinyoung Park, Eun-Taek Han, Won Sun Park, Jin-Hee Han, Yong-Soo Kwon, Hee-Jae Lee, Mubashir Hassan, Andrzej Kloczkowski, Wanjoo Chun
Int J Mol Sci. 2023 Jun; 24(11): 9332. Published online 2023 May 26. doi: 10.3390/ijms24119332
PMCID:
PMC10253386
ArticlePDF–2.6M
16.
Complex glycerol kinase deficiency – long-term follow-up of two patients
Beata Wikiera, Aleksandra Jakubiak, Izabela Łaczmanska, Anna Noczyńska, Robert Śmigiel
Pediatr Endocrinol Diabetes Metab. 2021 Sep; 27(3): 227–231. Published online 2021 Sep 30. doi: 10.5114/pedm.2021.109681
PMCID:
PMC10228193
ArticlePDF–496K
17.
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
Wanqi Zheng, Ying Duan, Yu Xia, Lili Liang, Zhuwen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Huiwen Zhang, Lianshu Han, Zizhen Gong, Bing Xiao, Wenjuan Qiu
Orphanet J Rare Dis. 2023; 18: 126. Published online 2023 May 26. doi: 10.1186/s13023-023-02737-y
PMCID:
PMC10214642
ArticlePDF–1.4M
18.
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature
Antonella Pizza, Esther Picillo, Maria Elena Onore, Marianna Scutifero, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Acta Myol. 2023; 42(1): 24–30. Published online 2023 Mar 31. doi: 10.36185/2532-1900-246
PMCID:
PMC10115399
ArticlePDF–246K
19.
Clinical features and long‐term management of cats with primary hypoadrenocorticism using desoxycorticosterone pivalate and prednisolone
Nadja S. Sieber‐Ruckstuhl, Livia Harburger, Natalie Hofer, Claudia Kümmerle, Claudia Müller, Barbara Riond, Regina Hofmann‐Lehmann, Claudia E. Reusch, Felicitas S. Boretti
J Vet Intern Med. 2023 Mar-Apr; 37(2): 420–427. Published online 2023 Feb 21. doi: 10.1111/jvim.16658
PMCID:
PMC10061202
ArticlePDF–600K
20.
The Expression Pattern of Insulin-Like Growth Factor Subtype 3 (igf3) in the Orange-Spotted Grouper Epinephelus coioides and Its Function on Ovary Maturation
Fang Jiao, Bing Fu, Yan Yang, Huayi Xue, Yuanyuan Wu, Huihong Zhao, Qing Wang, Huirong Yang
Int J Mol Sci. 2023 Feb; 24(3): 2868. Published online 2023 Feb 2. doi: 10.3390/ijms24032868
PMCID:
PMC9918221
ArticlePDF–3.6M

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