These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 32166680)

  • 1. A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.
    Wu SM; Gao JZ; He B; Long WJ; Luo XP; Chen L
    Curr Med Sci; 2020 Feb; 40(1):172-177. PubMed ID: 32166680
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.
    Kyriakakis N; Shonibare T; Kyaw-Tun J; Lynch J; Lagos CF; Achermann JC; Murray RD
    Pituitary; 2017 Oct; 20(5):585-593. PubMed ID: 28741070
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (
    Mohan S; Danda S; Mathai S; Simon A
    Natl Med J India; 2019; 32(3):141-143. PubMed ID: 32129306
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Case Report: A Novel Truncating Variant of
    Zhu F; Zhou M; Deng X; Li Y; Xiong J
    Front Endocrinol (Lausanne); 2022; 13():897069. PubMed ID: 35784540
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment.
    Yang J; Lv Y; Zhou Y; Xiao X
    J Pediatr Endocrinol Metab; 2017 Nov; 30(12):1299-1304. PubMed ID: 29176027
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Qin G; Ji H; Li X; Ma X; Wang D
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):809-14. PubMed ID: 25968435
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
    Rojek A; Flader M; Malecka E; Niedziela M
    Hormones (Athens); 2014; 13(3):413-9. PubMed ID: 25079468
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.
    Vargas MCC; Moura FS; Elias CP; Carvalho SR; Rassi N; Kunii IS; Dias-da-Silva MR; Costa-Barbosa FA
    BMC Endocr Disord; 2020 Feb; 20(1):21. PubMed ID: 32028936
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
    Gupta S; Joshi K; Zaidi G; Sarangi AN; Mandal K; Bhavani N; Pavithran PV; Pillai MG; Singh SK; Godbole T; Bhatia V; Bhatia E
    J Pediatr Endocrinol Metab; 2019 Aug; 32(8):863-869. PubMed ID: 31219797
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report.
    Iughetti L; Lucaccioni L; Bruzzi P; Ciancia S; Bigi E; Madeo SF; Predieri B; Roucher-Boulez F
    BMC Med Genet; 2019 Jun; 20(1):98. PubMed ID: 31164167
    [TBL] [Abstract][Full Text] [Related]  

  • 11. X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation.
    Pereira BD; Pereira I; Portugal JR; Gonçalves J; Raimundo L
    Arch Endocrinol Metab; 2015 Apr; 59(2):181-5. PubMed ID: 25993682
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children.
    Minari R; Vottero A; Tassi F; Viani I; Neri TM; Street ME; Ghizzoni L; Bernasconi S; Martorana D
    Hormones (Athens); 2015; 14(1):160-6. PubMed ID: 25402384
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1.
    Ali JM; Jalaludin MY; Harun F
    J Pediatr Endocrinol Metab; 2014 Nov; 27(11-12):1189-92. PubMed ID: 25003377
    [TBL] [Abstract][Full Text] [Related]  

  • 14. X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene.
    Esquiaveto-Aun AM; de Mello MP; Guaragna MS; da Silva Lopes VLG; Francese-Santos AP; Dos Santos Cruz Piveta C; Mazolla TN; de Lemos-Marini SHV; Guerra-Junior G
    Am J Med Genet A; 2024 Jun; 194(6):e63536. PubMed ID: 38243380
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel non-stop variant of the
    Ota T; Katsumata N; Naiki Y; Horikawa R
    J Pediatr Endocrinol Metab; 2022 Sep; 35(9):1189-1193. PubMed ID: 35848959
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita.
    Gerster K; Katschnig C; Wyss S; Kolly A; Sproll P; Biason-Lauber A; Konrad D
    J Pediatr Endocrinol Metab; 2017 Nov; 30(12):1321-1325. PubMed ID: 29087957
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers.
    Bertalan R; Bencsik Z; Mezei P; Vajda Z; Butz H; Patócs A
    Mol Biol Rep; 2019 Aug; 46(4):4599-4604. PubMed ID: 31280422
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1.
    Rodríguez Estévez A; Pérez-Nanclares G; Fernández-Toral J; Rivas-Crespo F; López-Siguero JP; Díez I; Grau G; Castaño L
    J Pediatr Endocrinol Metab; 2015 Sep; 28(9-10):1129-37. PubMed ID: 26030781
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita.
    Khattab A; Nelson-Williams C; Cabreza V; Macdonald A; Loring E; Saland J; New MI
    Ann N Y Acad Sci; 2018 Dec; 1433(1):7-11. PubMed ID: 30129976
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.