BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 36301051)

  • 41. Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.
    Martin BM; Ivanova MH; Sarukhanov A; Kim A; Power P; Pugash D; Popescu OE; Lachman RS; Krakow D; Patel MS
    Am J Med Genet A; 2014 Oct; 164A(10):2490-5. PubMed ID: 24995648
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.
    Descartes M; Rojnueangnit K; Cole L; Sutton A; Morgan SL; Patry L; Samuels ME
    Clin Dysmorphol; 2014 Jul; 23(3):88-94. PubMed ID: 24608068
    [No Abstract]   [Full Text] [Related]  

  • 43. Hajdu-cheney syndrome with osteomyelitis of mandible, calcification of falx cerebri and palatal groove.
    Gupta SR; Gupta R
    Cleft Palate Craniofac J; 2014 Nov; 51(6):722-8. PubMed ID: 24010868
    [TBL] [Abstract][Full Text] [Related]  

  • 44. The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families.
    Jirečková J; Magner M; Lambert L; Baxová A; Leiská A; Kopečková L; Fajkusová L; Zeman J
    Prague Med Rep; 2018; 119(4):156-164. PubMed ID: 30779700
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
    Pittaway JFH; Harrison C; Rhee Y; Holder-Espinasse M; Fryer AE; Cundy T; Drake WM; Irving MD
    Orphanet J Rare Dis; 2018 Apr; 13(1):47. PubMed ID: 29618366
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.
    Isidor B; Le Merrer M; Exner GU; Pichon O; Thierry G; Guiochon-Mantel A; David A; Cormier-Daire V; Le Caignec C
    Hum Mutat; 2011 Nov; 32(11):1239-42. PubMed ID: 21793104
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Severe Hajdu-Cheney syndrome with upper airway obstruction.
    Crifasi PA; Patterson MC; Bonde D; Michels VV
    Am J Med Genet; 1997 Jun; 70(3):261-6. PubMed ID: 9188663
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report.
    Abdelkarim M; Alageel D; Ahsan F; Alhuthil R; Alsarhani H; Alsagheir A
    Bone Rep; 2023 Dec; 19():101709. PubMed ID: 37664144
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.
    Aida N; Ohno T; Azuma T
    Int J Mol Sci; 2022 Sep; 23(19):. PubMed ID: 36232677
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome.
    Zanotti S; Yu J; Sanjay A; Schilling L; Schoenherr C; Economides AN; Canalis E
    J Biol Chem; 2017 Jul; 292(29):12232-12244. PubMed ID: 28592489
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Two-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu-Cheney syndrome.
    Galli-Tsinopoulou A; Kyrgios I; Giza S; Giannopoulou EZ; Maggana I; Laliotis N
    Minerva Endocrinol; 2012 Sep; 37(3):283-9. PubMed ID: 22766895
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab-A Rare Case Report.
    Kaczoruk-Wieremczuk M; Adamska P; Adamski ŁJ; Wychowański P; Jereczek-Fossa BA; Starzyńska A
    Int J Environ Res Public Health; 2021 Aug; 18(17):. PubMed ID: 34501688
    [TBL] [Abstract][Full Text] [Related]  

  • 53. A case of Hajdu-Cheney syndrome associated with psoriatic rheumatism, two causes of acro-osteolysis.
    Rochoux Q; Léon N; Bréhin AC; Michel M; Orcel P; Marcelli C
    Joint Bone Spine; 2018 Jul; 85(4):493-494. PubMed ID: 28600213
    [No Abstract]   [Full Text] [Related]  

  • 54. Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome.
    Swan L; Gole G; Sabesan V; Cardinal J; Coman D
    Case Rep Genet; 2018; 2018():2508345. PubMed ID: 30420927
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Letter to the Editor concerning "Hajdu Cheney syndrome; report of a novel NOTCH2 mutation and treatment with denosumab" by G. Adami et al. Bone 2016;92:150-156.
    Jerzakowski G; Lasek T
    Bone; 2017 Aug; 101():1-2. PubMed ID: 28411109
    [No Abstract]   [Full Text] [Related]  

  • 56. Capillaroscopic findings in a case of Hajdu-Cheney syndrome.
    Damian LO; Simon SP; Filipescu I; Bocsa C; Botar-Jid C; Rednic S
    Osteoporos Int; 2016 Mar; 27(3):1269-1273. PubMed ID: 26400009
    [TBL] [Abstract][Full Text] [Related]  

  • 57. The Hajdu Cheney Mutation Is a Determinant of B-Cell Allocation of the Splenic Marginal Zone.
    Yu J; Zanotti S; Walia B; Jellison E; Sanjay A; Canalis E
    Am J Pathol; 2018 Jan; 188(1):149-159. PubMed ID: 29037852
    [TBL] [Abstract][Full Text] [Related]  

  • 58. A girl with Hajdu-Cheney syndrome and premature ovarian failure.
    Nozaki T; Ihara K; Makimura M; Kinjo T; Hara T
    J Pediatr Endocrinol Metab; 2012; 25(1-2):171-3. PubMed ID: 22570971
    [TBL] [Abstract][Full Text] [Related]  

  • 59. [Fractures associated with dimonshed bone density, thypercalciuria and osteolysis. Is the diagnosis an osteoporosis or a syndrome?].
    Neuwirth A; Geeser A; Hasler P
    Praxis (Bern 1994); 2012 Mar; 101(6):413-7. PubMed ID: 22419140
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.
    Albano LMJ; Bertola DR; Barba MF; Valente M; Robertson SP; Kim CA
    Clin Dysmorphol; 2007 Jan; 16(1):27-33. PubMed ID: 17159511
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.