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 *

147 related articles for article (PubMed ID: 36936162)

  • 1. Case report: A case of Culler-Jones syndrome caused by a novel mutation of
    Zhang Y; Dong B; Xue Y; Wang Y; Yan J; Xu L
    Front Endocrinol (Lausanne); 2023; 14():1133492. PubMed ID: 36936162
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene].
    Fan Y; Ding S; Wu J; Qiu H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):217-221. PubMed ID: 36709944
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling.
    Valenza F; Cittaro D; Stupka E; Biancolini D; Patricelli MG; Bonanomi D; Lazarević D
    PLoS One; 2019; 14(1):e0210097. PubMed ID: 30629636
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Culler-Jones syndrome caused by a new mutated GLI2 gene: a case report].
    Wang XW; Xu LL; Lyu WS; Sun XF; Wang YG; Xue Y
    Zhonghua Nei Ke Za Zhi; 2023 Dec; 62(12):1472-1475. PubMed ID: 38044075
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome.
    Martín-Rivada Á; Rodríguez-Contreras FJ; Muñoz-Calvo MT; Güemes M; González-Casado I; Del Pozo JS; Campos-Barros Á; Argente J
    Growth Horm IGF Res; 2019 Feb; 44():17-19. PubMed ID: 30583238
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
    Barraud S; Delemer B; Poirsier-Violle C; Bouligand J; Mérol JC; Grange F; Higel-Chaufour B; Decoudier B; Zalzali M; Dwyer AA; Acierno JS; Pitteloud N; Millar RP; Young J
    Neuroendocrinology; 2021; 111(1-2):99-114. PubMed ID: 32074614
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel heterozygous intron mutation in SEMA7A causing kallmann syndrome in a female.
    Zhao Y; Yang F; Qiu L; Wang L; Che H
    Gynecol Endocrinol; 2020 Mar; 36(3):218-221. PubMed ID: 31650878
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
    Corder ML; Berland S; Førsvoll JA; Banerjee I; Murray P; Bratland E; Gokhale D; Houge G; Douzgou S
    Am J Med Genet A; 2022 Apr; 188(4):1065-1074. PubMed ID: 34921505
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model.
    Niida Y; Inoue M; Ozaki M; Takase E
    Cytogenet Genome Res; 2017; 153(2):56-65. PubMed ID: 29298444
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the
    Demiral M; Demirbilek H; Unal E; Durmaz CD; Ceylaner S; Özbek MN
    J Clin Res Pediatr Endocrinol; 2020 Sep; 12(3):319-328. PubMed ID: 31782289
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.
    Xu W; Zhou W; Lin H; Ye D; Chen G; Dong F; Shen J
    BMC Endocr Disord; 2021 Sep; 21(1):193. PubMed ID: 34563184
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by
    Wang SQ; Chen Y; Luo KH; Shi NJ; Xiao KL; Cui ZH; Zeng TS; Li HQ
    Yi Chuan; 2022 Dec; 44(12):1158-1166. PubMed ID: 36927561
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Kallmann Syndrome Due to Heterozygous Mutation in
    Chen K; Wang H; Lai Y
    Front Endocrinol (Lausanne); 2020; 11():592831. PubMed ID: 33597923
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants.
    Xia J; Luo X; Zhang X; Kong X
    J Obstet Gynaecol Res; 2021 Oct; 47(10):3727-3731. PubMed ID: 34342100
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
    Stamou MI; Georgopoulos NA
    Metabolism; 2018 Sep; 86():124-134. PubMed ID: 29108899
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Eight rare urinary disorders in a patient with Kallmann syndrome: A case report.
    Tian H; Yan Z; Lv Y; Sun L; Gang X; Wang G
    Medicine (Baltimore); 2020 Oct; 99(43):e22936. PubMed ID: 33120852
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Atypical presentation of a patient with both kallmann syndrome and a craniopharyngioma: case report and literature review.
    Jonklaas J
    Endocr Pract; 2005; 11(1):30-6. PubMed ID: 16033733
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two Sisters with Kallmann Syndrome, Gonadal Dysgenesis, and Multiple Neuromuscular and Endocrine Disorders: Report of Two Cases with Description of an Unusual Association.
    Camacho M; Castelo-Branco C
    Reprod Sci; 2022 Oct; 29(10):2859-2863. PubMed ID: 35199317
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report.
    Aristiady EB; Alberta D
    Pan Afr Med J; 2022; 43():67. PubMed ID: 36523287
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Kallmann syndrome--a form of hypogonadotropic hypogonadism].
    Hefner J; Csef H; Seufert J
    Dtsch Med Wochenschr; 2009 May; 134(22):1157-60. PubMed ID: 19603380
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.