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 *

388 related articles for article (PubMed ID: 32460820)

  • 1. Reproductive options for families at risk of Osteogenesis Imperfecta: a review.
    Zhytnik L; Simm K; Salumets A; Peters M; Märtson A; Maasalu K
    Orphanet J Rare Dis; 2020 May; 15(1):128. PubMed ID: 32460820
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Current Overview of Osteogenesis Imperfecta.
    Deguchi M; Tsuji S; Katsura D; Kasahara K; Kimura F; Murakami T
    Medicina (Kaunas); 2021 May; 57(5):. PubMed ID: 34068551
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment.
    Fiscaletti M; Biggin A; Bennetts B; Wong K; Briody J; Pacey V; Birman C; Munns CF
    Bone; 2018 May; 110():66-75. PubMed ID: 29382611
    [TBL] [Abstract][Full Text] [Related]  

  • 4. De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta.
    Zhytnik L; Maasalu K; Duy BH; Pashenko A; Khmyzov S; Reimann E; Prans E; Kõks S; Märtson A
    Mol Genet Genomic Med; 2019 Mar; 7(3):e559. PubMed ID: 30675999
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
    Essawi O; Symoens S; Fannana M; Darwish M; Farraj M; Willaert A; Essawi T; Callewaert B; De Paepe A; Malfait F; Coucke PJ
    Mol Genet Genomic Med; 2018 Jan; 6(1):15-26. PubMed ID: 29150909
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.
    De Vos A; Sermon K; Van de Velde H; Joris H; Vandervorst M; Lissens W; De Paepe A; Liebaers I; Van Steirteghem A
    Hum Genet; 2000 Jun; 106(6):605-13. PubMed ID: 10942108
    [TBL] [Abstract][Full Text] [Related]  

  • 7. What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.
    Pepin MG; Byers PH
    Am J Med Genet C Semin Med Genet; 2015 Dec; 169(4):307-13. PubMed ID: 26566591
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
    Hayat A; Hussain S; Bilal M; Kausar M; Almuzzaini B; Abbas S; Tanveer A; Khan A; Siddiqi S; Foo JN; Ahmad F; Khan F; Khan B; Anees M; Mäkitie O; Alfadhel M; Ahmad W; Umair M
    Eur J Med Genet; 2020 Aug; 63(8):103954. PubMed ID: 32413570
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.
    Song Y; Zhao D; Xu X; Lv F; Li L; Jiang Y; Wang O; Xia W; Xing X; Li M
    Osteoporos Int; 2018 Jun; 29(6):1389-1396. PubMed ID: 29520608
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.
    Swezey T; Reeve BB; Hart TS; Floor MK; Dollar CM; Gillies AP; Tosi LL
    Osteoporos Int; 2019 Feb; 30(2):507-511. PubMed ID: 30191258
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.
    Costantini A; Tournis S; Kämpe A; Ul Ain N; Taylan F; Doulgeraki A; Mäkitie O
    Calcif Tissue Int; 2018 Sep; 103(3):353-358. PubMed ID: 29572562
    [TBL] [Abstract][Full Text] [Related]  

  • 12. IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients.
    Zhytnik L; Maasalu K; Duy BH; Pashenko A; Khmyzov S; Reimann E; Prans E; Kõks S; Märtson A
    Hum Genomics; 2019 Jun; 13(1):25. PubMed ID: 31159867
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.
    Panzaru MC; Florea A; Caba L; Gorduza EV
    World J Clin Cases; 2023 Apr; 11(12):2604-2620. PubMed ID: 37214584
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections.
    de Die-Smulders CE; de Wert GM; Liebaers I; Tibben A; Evers-Kiebooms G
    Hum Reprod Update; 2013; 19(3):304-15. PubMed ID: 23377865
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
    Wilson RD; De Bie I; Armour CM; Brown RN; Campagnolo C; Carroll JC; Okun N; Nelson T; Zwingerman R; Audibert F; Brock JA; Brown RN; Campagnolo C; Carroll JC; De Bie I; Johnson JA; Okun N; Pastruck M; Vallée-Pouliot K; Wilson RD; Zwingerman R; Armour C; Chitayat D; De Bie I; Fernandez S; Kim R; Lavoie J; Leonard N; Nelson T; Taylor S; Van Allen M; Van Karnebeek C
    J Obstet Gynaecol Can; 2016 Aug; 38(8):742-762.e3. PubMed ID: 27638987
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults.
    Hald JD; Folkestad L; Swan CZ; Wanscher J; Schmidt M; Gjørup H; Haubek D; Leonhard CH; Larsen DA; Hjortdal JØ; Harsløf T; Duno M; Lund AM; Jensen JB; Brixen K; Langdahl B
    Osteoporos Int; 2018 Dec; 29(12):2781-2789. PubMed ID: 30143849
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Osteogenesis imperfecta in a male holstein calf associated with a possible oligogenic origin.
    Zhang X; Hirschfeld M; Beck J; Kupke A; Köhler K; Schütz E; Brenig B
    Vet Q; 2020 Dec; 40(1):58-67. PubMed ID: 31980012
    [No Abstract]   [Full Text] [Related]  

  • 18. Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.
    Balasubramanian M; Hobson E; Skae M; McCaughey J; Stephens DJ
    Mol Genet Genomic Med; 2019 Dec; 7(12):e912. PubMed ID: 31568717
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
    Thompson EM; Young ID; Hall CM; Pembrey ME
    J Med Genet; 1987 Jul; 24(7):390-405. PubMed ID: 3612715
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Health-related quality of life in children with osteogenesis imperfecta: a large-sample study.
    Song Y; Zhao D; Li L; Lv F; Wang O; Jiang Y; Xia W; Xing X; Li M
    Osteoporos Int; 2019 Feb; 30(2):461-468. PubMed ID: 30569229
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.