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 *

140 related articles for article (PubMed ID: 33248444)

  • 1. A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling.
    Suda K; Fukuoka H; Iguchi G; Kanie K; Fujita Y; Odake Y; Matsumoto R; Bando H; Ito H; Takahashi M; Chihara K; Nagai H; Narumi S; Hasegawa T; Ogawa W; Takahashi Y
    J Clin Endocrinol Metab; 2021 Mar; 106(3):718-723. PubMed ID: 33248444
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of
    Zhang Y; Zhang H; Wu W; Wang D; Lv Y; Zhao D; Wang L; Liu Y; Zhang K
    Front Genet; 2023; 14():1081391. PubMed ID: 36777730
    [No Abstract]   [Full Text] [Related]  

  • 3. Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.
    van Rij MC; Hollink IHIM; Terhal PA; Kant SG; Ruivenkamp C; van Haeringen A; Kievit JA; van Belzen MJ
    Am J Med Genet A; 2018 May; 176(5):1212-1215. PubMed ID: 29681085
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genotype-phenotype correlation at codon 1740 of SETD2.
    Rabin R; Radmanesh A; Glass IA; Dobyns WB; Aldinger KA; Shieh JT; Romoser S; Bombei H; Dowsett L; Trapane P; Bernat JA; Baker J; Mendelsohn NJ; Popp B; Siekmeyer M; Sorge I; Sansbury FH; Watts P; Foulds NC; Burton J; Hoganson G; Hurst JA; Menzies L; Osio D; Kerecuk L; Cobben JM; Jizi K; Jacquemont S; Bélanger SA; Löhner K; Veenstra-Knol HE; Lemmink HH; Keller-Ramey J; Wentzensen IM; Punj S; McWalter K; Lenberg J; Ellsworth KA; Radtke K; Akbarian S; Pappas J
    Am J Med Genet A; 2020 Sep; 182(9):2037-2048. PubMed ID: 32710489
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical Heterogeneity and Different Phenotypes in Patients with
    Parra A; Rabin R; Pappas J; Pascual P; Cazalla M; Arias P; Gallego-Zazo N; Santana A; Arroyo I; Artigas M; Pachajoa H; Alanay Y; Akgun-Dogan O; Ruaud L; Couque N; Levy J; Porras-Hurtado GL; Santos-Simarro F; Ballesta-Martinez MJ; Guillén-Navarro E; Muñoz-Hernández H; Nevado J; Spanish OverGrowth Registry Initiative ; Tenorio-Castano J; Lapunzina P
    Genes (Basel); 2023 May; 14(6):. PubMed ID: 37372360
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel
    Wu Y; Liu F; Wan R; Jiao B
    Front Genet; 2023; 14():1153284. PubMed ID: 37025455
    [No Abstract]   [Full Text] [Related]  

  • 7. Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
    Lumish HS; Wynn J; Devinsky O; Chung WK
    J Autism Dev Disord; 2015 Nov; 45(11):3764-70. PubMed ID: 26084711
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
    Schäfgen J; Cremer K; Becker J; Wieland T; Zink AM; Kim S; Windheuser IC; Kreiß M; Aretz S; Strom TM; Wieczorek D; Engels H
    Eur J Hum Genet; 2016 Dec; 24(12):1739-1745. PubMed ID: 27436265
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.
    Fang P; Riedl S; Amselem S; Pratt KL; Little BM; Haeusler G; Hwa V; Frisch H; Rosenfeld RG
    J Clin Endocrinol Metab; 2007 Jun; 92(6):2223-31. PubMed ID: 17405847
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Growth hormone insensitivity syndrome associated with syringomyelia and type I Chiari malformation.
    Takagi J; Otake K; Takahashi M; Nakao N; Hirooka Y; Sahashi K; Nogimori T
    Intern Med; 2003 Nov; 42(11):1117-21. PubMed ID: 14686753
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).
    Ramírez L; Sanguineti N; Scaglia P; Keselman A; Ballerini MG; Karabatas L; Landi E; Castro J; Domené S; Pennisi P; Jasper H; Rey RA; Vázquez M; Domené H; Bergadá I; Gutiérrez M
    Growth Horm IGF Res; 2020 Feb; 50():61-70. PubMed ID: 31902742
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pegvisomant therapy in pituitary gigantism: successful treatment in a 12-year-old girl.
    Rix M; Laurberg P; Hoejberg AS; Brock-Jacobsen B
    Eur J Endocrinol; 2005 Aug; 153(2):195-201. PubMed ID: 16061823
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Five-year follow-up of a 13-year-old boy with a pituitary adenoma causing gigantism--effect of octreotide therapy.
    Schoof E; Dörr HG; Kiess W; Lüdecke DK; Freitag E; Zindel V; Rascher W; Dötsch J
    Horm Res; 2004; 61(4):184-9. PubMed ID: 14739526
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Gps mutations in Chilean patients harboring growth hormone-secreting pituitary tumors.
    Johnson MC; Codner E; Eggers M; Mosso L; Rodriguez JA; Cassorla F
    J Pediatr Endocrinol Metab; 1999; 12(3):381-7. PubMed ID: 10821217
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor.
    Fang P; Kofoed EM; Little BM; Wang X; Ross RJ; Frank SJ; Hwa V; Rosenfeld RG
    J Clin Endocrinol Metab; 2006 Apr; 91(4):1526-34. PubMed ID: 16464942
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred.
    Cansu GB; Taşkıran B; Trivellin G; Faucz FR; Stratakis CA
    Hormones (Athens); 2016 Jul; 15(3):441-444. PubMed ID: 27838609
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Growth Hormone-Insulin Growth Factor I (GH-IGF-I) axis and growth].
    Castell AL; Sadoul JL; Bouvattier C
    Ann Endocrinol (Paris); 2013 Oct; 74 Suppl 1():S33-41. PubMed ID: 24356290
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cardiac and metabolic effects of chronic growth hormone and insulin-like growth factor I excess in young adults with pituitary gigantism.
    Bondanelli M; Bonadonna S; Ambrosio MR; Doga M; Gola M; Onofri A; Zatelli MC; Giustina A; degli Uberti EC
    Metabolism; 2005 Sep; 54(9):1174-80. PubMed ID: 16125529
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Growth hormone and insulin-like growth factor I insensitivity of fibroblasts isolated from a patient with an I{kappa}B{alpha} mutation.
    Wu S; Walenkamp MJ; Lankester A; Bidlingmaier M; Wit JM; De Luca F
    J Clin Endocrinol Metab; 2010 Mar; 95(3):1220-8. PubMed ID: 20080849
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
    Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K
    Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.