BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 34160123)

  • 1. Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
    Grand K; Skraban CM; Cohen JL; Dowsett L; Mazzola S; Tarpinian J; Bedoukian E; Nesbitt A; Denenberg B; Lulis L; Santani A; Zackai EH; Deardorff MA
    Am J Med Genet A; 2021 Sep; 185(9):2766-2775. PubMed ID: 34160123
    [TBL] [Abstract][Full Text] [Related]  

  • 2. CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
    Silveira KC; Fonseca IC; Oborn C; Wengryn P; Ghafoor S; Beke A; Dreseris ES; Wong C; Iacovone A; Soltys CL; Babul-Hirji R; Artigalas O; Antolini-Tavares A; Gingras AC; Campos E; Cavalcanti DP; Kannu P
    Hum Genet; 2023 Nov; 142(11):1571-1586. PubMed ID: 37755482
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.
    Morton JE; Frentz S; Morgan T; Sutherland-Smith AJ; Robertson SP
    Am J Med Genet A; 2016 Oct; 170(10):2706-10. PubMed ID: 27410456
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.
    Diehl A; Mu W; Batista D; Gunay-Aygun M
    Am J Med Genet A; 2015 Jul; 167(7):1644-9. PubMed ID: 25823593
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Homozygous
    Luyckx I; Walton IS; Boeckx N; Van Schil K; Pang C; De Praeter M; Lord H; Watson CM; Bonthron DT; Van Laer L; Wilkie AOM; Loeys B
    J Med Genet; 2024 Mar; 61(4):363-368. PubMed ID: 38290823
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
    Li J; Xie H; Jiang Y
    BMC Med Genet; 2018 Apr; 19(1):51. PubMed ID: 29606097
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.
    Schneeberger PE; Nayak SS; Fuchs S; Kutsche K; Girisha KM
    Am J Med Genet A; 2020 Nov; 182(11):2793-2796. PubMed ID: 32783269
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Musculoskeletal manifestations of the Antley-Bixler syndrome.
    Rumball KM; Pang E; Letts RM
    J Pediatr Orthop B; 1999 Apr; 8(2):139-43. PubMed ID: 10218180
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Antley-Bixler syndrome with radioulnar synostosis.
    Hurley ME; White MJ; Green AJ; Kelleher J
    Pediatr Radiol; 2004 Feb; 34(2):148-51. PubMed ID: 14513299
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Humero-radial synostosis with ulnar defects in sibs.
    Ramer JC; Ladda RL
    Am J Med Genet; 1989 Jun; 33(2):176-9. PubMed ID: 2669480
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.
    Selicorni A; Ferrarini A; Cagnoli G; Fratoni A; Bottigelli M; Milani D
    Am J Med Genet A; 2005 Jan; 132A(2):189-90. PubMed ID: 15578583
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants.
    Caengprasath N; Buasong A; Ittiwut C; Khongphatthanayothin A; Porntaveetus T; Shotelersuk V
    Eur J Med Genet; 2022 Nov; 65(11):104601. PubMed ID: 36049609
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
    Sarma AS; Peter Mathew R; Dalal A; Bhat V; Patil SJ
    Eur J Med Genet; 2023 Jul; 66(7):104772. PubMed ID: 37100236
    [TBL] [Abstract][Full Text] [Related]  

  • 14. CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families.
    Ricci M; Serrani R; Amato B; Compagna R; Veselenyiova D; Kenanoglu S; Kurti D; Baglivo M; Krajcovic J; Miggiano GAD; Aquilanti B; Matera G; Velluti V; Gagliardi L; Dundar M; Basha SH; Bertelli M
    Lymphology; 2020; 53(1):20-28. PubMed ID: 32521127
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
    Thuresson AC; Croft B; Hailer YD; Liminga G; Arvidsson CG; Harley VR; Stattin EL
    Clin Genet; 2021 Feb; 99(2):325-329. PubMed ID: 33174625
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital proximal radioulnar synostosis associated with bilateral hypoplasia of the scaphoid bone, bilateral os lunatotriquetrum, and anomalies of the carpometacarpal complex.
    Glodny B; Bendix N; Trieb T; Gassner E; Gruber H; Petersen J
    Clin Imaging; 2007; 31(1):62-6. PubMed ID: 17189852
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation.
    Pankau R; Gosch A; Wessel A
    Am J Med Genet; 1993 Mar; 45(6):783. PubMed ID: 8456863
    [No Abstract]   [Full Text] [Related]  

  • 18. Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism.
    Divizia MT; Baban A; Pessagno A; Boero S; Ravazzolo R; Silengo MC; Lerone M
    Am J Med Genet A; 2005 Aug; 137(1):106-8. PubMed ID: 16015584
    [No Abstract]   [Full Text] [Related]  

  • 19. Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series.
    VanHeest AE; Lin TE; Bohn D
    J Pediatr Orthop; 2013; 33(5):540-3. PubMed ID: 23752153
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome.
    Chrzanowska KH; Fryns JP; Krajewska-Walasek M; Van den Berghe H; Wisniewski L
    Am J Med Genet; 1989 Apr; 32(4):470-4. PubMed ID: 2773987
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.