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 *

173 related articles for article (PubMed ID: 32935225)

  • 1. Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report.
    Mohammadian Khonsari N; Mohammad Poor Nami S; Hakak-Zargar B; Voth T
    Mol Cell Pediatr; 2020 Sep; 7(1):11. PubMed ID: 32935225
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review.
    Yin LP; Zheng HX; Zhu H
    World J Clin Cases; 2022 Mar; 10(9):2811-2817. PubMed ID: 35434101
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.
    Vairamani K; Merjaneh L; Casano-Sancho P; Sanli ME; David A; Metherell LA; Savage MO; Del Pozo JS; Backeljauw PF; Rosenfeld RG; Aisenberg J; Dauber A; Hwa V
    J Endocr Soc; 2017 Apr; 1(4):345-358. PubMed ID: 29188236
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
    Hattori A; Katoh-Fukui Y; Nakamura A; Matsubara K; Kamimaki T; Tanaka H; Dateki S; Adachi M; Muroya K; Yoshida S; Ida S; Mitani M; Nagasaki K; Ogata T; Suzuki E; Hata K; Nakabayashi K; Matsubara Y; Narumi S; Tanaka T; Fukami M
    Endocr J; 2017 Oct; 64(10):947-954. PubMed ID: 28768959
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes.
    David A; Camacho-Hübner C; Bhangoo A; Rose SJ; Miraki-Moud F; Akker SA; Butler GE; Ten S; Clayton PE; Clark AJ; Savage MO; Metherell LA
    J Clin Endocrinol Metab; 2007 Feb; 92(2):655-9. PubMed ID: 17148568
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature.
    Hujeirat Y; Hess O; Shalev S; Tenenbaum-Rakover Y
    Horm Res; 2006; 65(4):210-6. PubMed ID: 16582564
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.
    Derr MA; Aisenberg J; Fang P; Tenenbaum-Rakover Y; Rosenfeld RG; Hwa V
    J Clin Endocrinol Metab; 2011 Nov; 96(11):E1896-904. PubMed ID: 21900382
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review.
    Turkunova ME; Barbitoff YA; Serebryakova EA; Polev DE; Berseneva OS; Bashnina EB; Baranov VS; Glotov OS; Glotov AS
    Front Genet; 2022; 13():846101. PubMed ID: 35664296
    [No Abstract]   [Full Text] [Related]  

  • 9. Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.
    Moia S; Tessaris D; Einaudi S; de Sanctis L; Bona G; Bellone S; Prodam F
    Ital J Pediatr; 2017 Oct; 43(1):94. PubMed ID: 29025428
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature.
    Kim TY; Jang KM; Keum CW; Oh SH; Chung WY
    Ann Pediatr Endocrinol Metab; 2020 Dec; 25(4):272-276. PubMed ID: 32871652
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.
    Son HW; Lee JE; Oh SH; Keum C; Chung WY
    Ann Pediatr Endocrinol Metab; 2020 Jun; 25(2):126-131. PubMed ID: 32615693
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.
    Lin L; Li M; Luo J; Li P; Zhou S; Yang Y; Chen K; Weng Y; Ge X; Mireguli M; Wei H; Yang H; Li G; Sun Y; Cui L; Zhang S; Chen J; Zeng G; Xu L; Luo X; Shen Y
    J Clin Endocrinol Metab; 2021 Jun; 106(7):e2711-e2719. PubMed ID: 33606014
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.
    Nagasaki K; Asami T; Sato H; Ogawa Y; Kikuchi T; Saitoh A; Ogata T; Fukami M
    Am J Med Genet A; 2014 Mar; 164A(3):731-5. PubMed ID: 24375913
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Case report: A novel heterozygous frameshift mutation of
    Huang H; Jin J; Xiang R; Wang X
    Front Genet; 2023; 14():1101695. PubMed ID: 37025453
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).
    Cottrell E; Maharaj A; Williams J; Chatterjee S; Cirillo G; Miraglia Del Giudice E; Festa A; Palumbo S; Capalbo D; Salerno M; Pignata C; Savage MO; Schilbach K; Bidlingmaier M; Hwa V; Metherell LA; Grandone A; Storr HL
    J Clin Endocrinol Metab; 2021 Jul; 107(1):e401-16. PubMed ID: 34318893
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation.
    Tatsi C; Gkourogianni A; Mohnike K; DeArment D; Witchel S; Andrade AC; Markello TC; Baron J; Nilsson O; Jee YH
    J Endocr Soc; 2017 Aug; 1(8):1006-1011. PubMed ID: 29264551
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a
    Budisteanu M; Bögershausen N; Papuc SM; Moosa S; Thoenes M; Riga D; Arghir A; Wollnik B
    Balkan J Med Genet; 2018 Jun; 21(1):83-86. PubMed ID: 30425916
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor.
    Meyer S; Ipek M; Keth A; Minnemann T; von Mach MA; Weise A; Ittner JR; Nawroth PP; Plöckinger U; Stalla GK; Tuschy U; Weber MM; Kann PH; ;
    Growth Horm IGF Res; 2007 Aug; 17(4):307-14. PubMed ID: 17462934
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
    Quintos JB; Guo MH; Dauber A
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):927-32. PubMed ID: 25741789
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Retrospective Diagnosis of a Novel
    Mancioppi V; Prodam F; Mellone S; Ricotti R; Giglione E; Grasso N; Vurchio D; Petri A; Rabbone I; Giordano M; Bellone S
    Front Genet; 2021; 12():708864. PubMed ID: 34456977
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.