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 *

122 related articles for article (PubMed ID: 25974718)

  • 1. GLI2 mutations typically result in pituitary anomalies with or without postaxial polydactyly.
    Bear KA; Solomon BD
    Am J Med Genet A; 2015 Oct; 167A(10):2491-2. PubMed ID: 25974718
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly.
    Elizabeth MSM; Verkerk AJMH; Hokken-Koelega ACS; Verlouw JAM; Argente J; Pfaeffle R; Visser TJ; Peeters RP; De Graaff LCG
    Growth Horm IGF Res; 2020 Feb; 50():35-41. PubMed ID: 31862539
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
    Bear KA; Solomon BD; Antonini S; Arnhold IJ; França MM; Gerkes EH; Grange DK; Hadley DW; Jääskeläinen J; Paulo SS; Rump P; Stratakis CA; Thompson EM; Willis M; Winder TL; Jorge AA; Roessler E; Muenke M
    J Med Genet; 2014 Jun; 51(6):413-8. PubMed ID: 24744436
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Letter to the editor regarding: "Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients" Clinica Chimica acta 433 (2014) 195-199.
    Baas M; Galjaard RJ; der Spek Pv; Hovius SE; van Nieuwenhoven CA
    Clin Chim Acta; 2015 Jul; 447():71. PubMed ID: 25869409
    [No Abstract]   [Full Text] [Related]  

  • 7. Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
    Flemming GM; Klammt J; Ambler G; Bao Y; Blum WF; Cowell C; Donaghue K; Howard N; Kumar A; Sanchez J; Stobbe H; Pfäffle RW
    J Clin Endocrinol Metab; 2013 Mar; 98(3):E567-75. PubMed ID: 23408573
    [TBL] [Abstract][Full Text] [Related]  

  • 8. GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
    Patel R; Singh CB; Bhattacharya V; Singh SK; Ali A
    Congenit Anom (Kyoto); 2016 Mar; 56(2):94-7. PubMed ID: 26508445
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
    França MM; Jorge AA; Carvalho LR; Costalonga EF; Vasques GA; Leite CC; Mendonca BB; Arnhold IJ
    J Clin Endocrinol Metab; 2010 Nov; 95(11):E384-91. PubMed ID: 20685856
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical findings in patients with GLI2 mutations--phenotypic variability.
    Bertolacini CD; Ribeiro-Bicudo LA; Petrin A; Richieri-Costa A; Murray JC
    Clin Genet; 2012 Jan; 81(1):70-5. PubMed ID: 21204792
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Role of GLI2 in hypopituitarism phenotype.
    Arnhold IJ; França MM; Carvalho LR; Mendonca BB; Jorge AA
    J Mol Endocrinol; 2015 Jun; 54(3):R141-50. PubMed ID: 25878059
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.
    Wang Z; Wang J; Li Y; Geng J; Fu Q; Xu Y; Shen Y
    Clin Chim Acta; 2014 Jun; 433():195-9. PubMed ID: 24667698
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree.
    Cheng B; Dong Y; He L; Tang W; Yu H; Lu J; Xu L; Zheng B; Li K; Xiao C
    J Clin Lab Anal; 2006; 20(4):133-8. PubMed ID: 16874813
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.
    Umair M; Wasif N; Albalawi AM; Ramzan K; Alfadhel M; Ahmad W; Basit S
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00627. PubMed ID: 31115189
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.
    Kremer Hovinga ICL; Giltay JC; van der Crabben SN; Steyls A; van der Kamp HJ; Paulussen ADC
    Clin Endocrinol (Oxf); 2018 Sep; 89(3):378-380. PubMed ID: 29876959
    [No Abstract]   [Full Text] [Related]  

  • 16. GLI2 mutations as a cause of hypopituitarism.
    Cohen LE
    Pediatr Endocrinol Rev; 2012 Aug; 9(4):706-9. PubMed ID: 23304807
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.
    Yousaf M; Ullah A; Azeem Z; Isani Majeed A; Memon MI; Ghous T; Basit S; Ahmad W
    Congenit Anom (Kyoto); 2020 Jul; 60(4):115-119. PubMed ID: 31621941
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly.
    Turkkahraman D; Sakarya ANP; Randa NC
    Am J Med Genet A; 2021 Jul; 185(7):2234-2237. PubMed ID: 33788986
    [No Abstract]   [Full Text] [Related]  

  • 19. A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
    Kevelam SH; van Harssel JJ; van der Zwaag B; Smeets HJ; Paulussen AD; Lichtenbelt KD
    Am J Med Genet A; 2012 Jan; 158A(1):166-73. PubMed ID: 22106008
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.