BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 36575358)

  • 1. A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.
    Ryabets-Lienhard A; Panjawatanan P; Vogt K; Ji J; Georgia S; Pitukcheewanont P
    Calcif Tissue Int; 2023 Apr; 112(4):518-523. PubMed ID: 36575358
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
    Mercier S; Küry S; Salort-Campana E; Magot A; Agbim U; Besnard T; Bodak N; Bou-Hanna C; Bréhéret F; Brunelle P; Caillon F; Chabrol B; Cormier-Daire V; David A; Eymard B; Faivre L; Figarella-Branger D; Fleurence E; Ganapathi M; Gherardi R; Goldenberg A; Hamel A; Igual J; Irvine AD; Israël-Biet D; Kannengiesser C; Laboisse C; Le Caignec C; Mahé JY; Mallet S; MacGowan S; McAleer MA; McLean I; Méni C; Munnich A; Mussini JM; Nagy PL; Odel J; O'Regan GM; Péréon Y; Perrier J; Piard J; Puzenat E; Sampson JB; Smith F; Soufir N; Tanji K; Thauvin C; Ulane C; Watson RM; Khumalo NP; Mayosi BM; Barbarot S; Bézieau S
    Orphanet J Rare Dis; 2015 Oct; 10():135. PubMed ID: 26471370
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Progressive osseous heteroplasia-like heterotopic ossification in a male infant with pseudohypoparathyroidism type Ia: a case report.
    Gelfand IM; Hub RS; Shore EM; Kaplan FS; Dimeglio LA
    Bone; 2007 May; 40(5):1425-8. PubMed ID: 17321228
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.
    Lin MH; Numbenjapon N; Germain-Lee EL; Pitukcheewanont P
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):911-8. PubMed ID: 25894639
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
    Adegbite NS; Xu M; Kaplan FS; Shore EM; Pignolo RJ
    Am J Med Genet A; 2008 Jul; 146A(14):1788-96. PubMed ID: 18553568
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review.
    Ma J; Mo W; Sun J; Li Y; Han T; Mao H
    BMC Musculoskelet Disord; 2023 Mar; 24(1):247. PubMed ID: 37003989
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Progressive osseous heteroplasia is not a Mendelian trait but a type 2 segmental manifestation of GNAS inactivation disorders: A hypothesis.
    Happle R
    Eur J Med Genet; 2016 May; 59(5):290-4. PubMed ID: 27058263
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.
    Shore EM; Ahn J; Jan de Beur S; Li M; Xu M; Gardner RJ; Zasloff MA; Whyte MP; Levine MA; Kaplan FS
    N Engl J Med; 2002 Jan; 346(2):99-106. PubMed ID: 11784876
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.
    Elli FM; Barbieri AM; Bordogna P; Ferrari P; Bufo R; Ferrante E; Giardino E; Beck-Peccoz P; Spada A; Mantovani G
    Bone; 2013 Oct; 56(2):276-80. PubMed ID: 23796510
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation.
    Zhang Z; Zhang J; Chen F; Zheng L; Li H; Liu M; Li M; Yao Z
    J Dermatol; 2019 Nov; 46(11):1014-1018. PubMed ID: 31392773
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Case report: Discovery of a
    Ferré EMN; Yu Y; Oikonomou V; Hilfanova A; Lee CR; Rosen LB; Burbelo PD; Vazquez SE; Anderson MS; Barocha A; Heller T; Soldatos A; Holland SM; Walkiewicz MA; Lionakis MS
    Front Immunol; 2023; 14():1133387. PubMed ID: 36875114
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Progressive osseous heteroplasia.
    Kaplan FS; Shore EM
    J Bone Miner Res; 2000 Nov; 15(11):2084-94. PubMed ID: 11092391
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Endochondral ossification in a case of progressive osseous heteroplasia in a young female child.
    Schrander DE; Welting TJ; Caron MM; Schrander JJ; van Rhijn LW; Körver-Keularts I; Schrander-Stumpel CT
    J Pediatr Orthop B; 2014 Sep; 23(5):477-84. PubMed ID: 24626099
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appearing during adolescence and not early childhood.
    Ozaki K; Mituboshi A; Nagai M; Nishiyama A; Nishimura G; Morisada N; Iijima K
    Endocrine; 2021 Dec; 74(3):685-689. PubMed ID: 34254228
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene.
    Chan I; Hamada T; Hardman C; McGrath JA; Child FJ
    Clin Exp Dermatol; 2004 Jan; 29(1):77-80. PubMed ID: 14723729
    [TBL] [Abstract][Full Text] [Related]  

  • 16. GNAS-associated disorders of cutaneous ossification: two different clinical presentations.
    Schimmel RJ; Pasmans SG; Xu M; Stadhouders-Keet SA; Shore EM; Kaplan FS; Wulffraat NM
    Bone; 2010 Mar; 46(3):868-72. PubMed ID: 19900597
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of
    Dokic Y; Albahrani Y; Phung T; Patel K; de Guzman M; Hertel P; Hunt R
    JAAD Case Rep; 2020 Dec; 6(12):1217-1220. PubMed ID: 33294546
    [No Abstract]   [Full Text] [Related]  

  • 18. Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.
    Lebrun M; Richard N; Abeguilé G; David A; Coëslier Dieux A; Journel H; Lacombe D; Pinto G; Odent S; Salles JP; Taieb A; Gandon-Laloum S; Kottler ML
    J Clin Endocrinol Metab; 2010 Jun; 95(6):3028-38. PubMed ID: 20427508
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.