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 *

187 related articles for article (PubMed ID: 34897794)

  • 1. Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
    Elli FM; Mattinzoli D; Lucca C; Piu M; Maffini MA; Costanza J; Fontana L; Santaniello C; Forino C; Milani D; Bonati MT; Secco A; Gastaldi R; Alfieri C; Messa P; Miozzo M; Arosio M; Mantovani G
    J Bone Miner Res; 2022 Mar; 37(3):465-474. PubMed ID: 34897794
    [TBL] [Abstract][Full Text] [Related]  

  • 2. What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
    Pereda A; Garin I; ; Perez de Nanclares G
    BMC Med Genet; 2018 Mar; 19(1):32. PubMed ID: 29499646
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain.
    Karaca A; Reyes M; Shumate LT; Taskaldiran I; Omma T; Ersoz Gulcelik N; Bastepe M
    Bone; 2019 Jun; 123():153-158. PubMed ID: 30914275
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I.
    Yan Y; Huang S; Huang L; Zhang J; Li S; Zhang C; Luo X
    Horm Res Paediatr; 2024; 97(1):28-39. PubMed ID: 36990068
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.
    Su W; Shi X; Lin M; Huang C; Wang L; Song H; Zhuang Y; Zhang H; Li N; Li X
    BMC Med Genet; 2018 Dec; 19(1):211. PubMed ID: 30541476
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An intragenic duplication of
    Zepeda-Mendoza CJ; Cousin MA; Basu S; Jenkinson G; Oliver G; Pittock ST; Baughn LB; Klee EW; Babovic-Vuksanovic D
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31662300
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
    Herlin LK; Herlin MK; Blechingberg J; Rønholt K; Graversen L; Schmidt SAJ; Jørgensen MW; Hellfritzsch MB; Hald JD; Beck-Nielsen SS; Gjørup H; Andersen BN; Gregersen PA; Sommerlund M
    Eur J Med Genet; 2024 Jun; 69():104937. PubMed ID: 38574886
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.
    Smaili W; Elalaoui SC; Meier S; Zerkaoui M; Sefiani A; Heinimann K
    BMC Med Genet; 2017 May; 18(1):50. PubMed ID: 28468609
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.
    Ullah A; Umair M; Hussain S; Jan A; Ahmad W
    Pediatr Int; 2018 Mar; 60(3):304-306. PubMed ID: 29436063
    [No Abstract]   [Full Text] [Related]  

  • 10. Identification of two novel mutations in TRPS1 gene in families with tricho-rhino-phalangeal type I syndrome.
    Flores-Cuevas A; Mutchinick O; Morales-Suárez JJ; González-Huerta LM; Cuevas-Covarrubias SA
    J Investig Med; 2012 Jun; 60(5):823-6. PubMed ID: 22481165
    [TBL] [Abstract][Full Text] [Related]  

  • 11. TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.
    Wang C; Xu Y; Qing Y; Yao R; Li N; Wang X; Yu T; Wang J
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1417. PubMed ID: 33073934
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
    Armour CM; Smith A; Hartley T; Chardon JW; Sawyer S; Schwartzentruber J; Hennekam R; Majewski J; Bulman DE; ; Suri M; Boycott KM
    Am J Med Genet A; 2016 Jul; 170(7):1820-5. PubMed ID: 27133561
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant.
    Öztürk N; Karamık G; Mutlu H; Bayer ÖY; Mıhçı E; Çetin GO; Nur B
    Turk J Pediatr; 2023; 65(1):81-95. PubMed ID: 36866988
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
    Truelove A; Mulay A; Prapa M; Casey RT; Adler AI; Offiah AC; Poole KES; Trotman J; Al Hasso N; Park SM
    Am J Med Genet A; 2019 Jul; 179(7):1330-1337. PubMed ID: 31041856
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.
    Pereda A; Azriel S; Bonet M; Garin I; Gener B; Lecumberri B; de Nanclares GP
    J Pediatr Endocrinol Metab; 2014 Nov; 27(11-12):1089-94. PubMed ID: 24945424
    [TBL] [Abstract][Full Text] [Related]  

  • 16. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.
    Crippa M; Bestetti I; Perotti M; Castronovo C; Tabano S; Picinelli C; Grassi G; Larizza L; Pincelli AI; Finelli P
    BMC Med Genet; 2014 May; 15():52. PubMed ID: 24886451
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1.
    Fujisawa T; Fukao T; Shimomura Y; Seishima M
    J Dermatol; 2014 Jun; 41(6):514-7. PubMed ID: 24909213
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency.
    Yagasaki H; Narusawa H; Watanabe D; Kobayashi K; Mitsui H; Asano Y; Nagata M; Yonei A; Inukai T
    Eur J Med Genet; 2023 Dec; 66(12):104870. PubMed ID: 37879495
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report.
    Xu S; Lian Q; Wu J; Li L; Song J
    BMC Med Genet; 2020 Aug; 21(1):158. PubMed ID: 32746809
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature.
    Wang J; Wang Z; An Y; Wu C; Xu Y; Fu Q; Shen Y; Zhang Q
    Clin Chim Acta; 2015 Jun; 446():9-14. PubMed ID: 25801215
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.