BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 32100099)

  • 1. Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
    Smith C; McColl BW; Patir A; Barrington J; Armishaw J; Clarke A; Eaton J; Hobbs V; Mansour S; Nolan M; Rice GI; Rodero MP; Seabra L; Uggenti C; Livingston JH; Bridges LR; Jeffrey IJM; Crow YJ
    Acta Neuropathol; 2020 May; 139(5):947-951. PubMed ID: 32100099
    [No Abstract]   [Full Text] [Related]  

  • 2. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
    Dong X; Tan NB; Howell KB; Barresi S; Freeman JL; Vecchio D; Piccione M; Radio FC; Calame D; Zong S; Eggers S; Scheffer IE; Tan TY; Van Bergen NJ; Tartaglia M; Christodoulou J; White SM
    Am J Hum Genet; 2020 Apr; 106(4):559-569. PubMed ID: 32197075
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.
    Macintosh J; Derksen A; Poulin C; Braverman N; Vanderver A; Thiffault I; Albrecht S; Bernard G
    Neurogenetics; 2022 Apr; 23(2):151-156. PubMed ID: 35099671
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Congenital glaucoma and CYP1B1: an old story revisited.
    Alsaif HS; Khan AO; Patel N; Alkuraya H; Hashem M; Abdulwahab F; Ibrahim N; Aldahmesh MA; Alkuraya FS
    Hum Genet; 2019 Sep; 138(8-9):1043-1049. PubMed ID: 29556725
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
    Huckert M; Stoetzel C; Morkmued S; Laugel-Haushalter V; Geoffroy V; Muller J; Clauss F; Prasad MK; Obry F; Raymond JL; Switala M; Alembik Y; Soskin S; Mathieu E; Hemmerlé J; Weickert JL; Dabovic BB; Rifkin DB; Dheedene A; Boudin E; Caluseriu O; Cholette MC; Mcleod R; Antequera R; Gellé MP; Coeuriot JL; Jacquelin LF; Bailleul-Forestier I; Manière MC; Van Hul W; Bertola D; Dollé P; Verloes A; Mortier G; Dollfus H; Bloch-Zupan A
    Hum Mol Genet; 2015 Jun; 24(11):3038-49. PubMed ID: 25669657
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.
    Kaur R; Siddiqui I; Mathur V; Jana M; Kabra M; Gupta N
    Am J Med Genet A; 2020 Aug; 182(8):1944-1946. PubMed ID: 32432408
    [TBL] [Abstract][Full Text] [Related]  

  • 7. LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.
    Désir J; Sznajer Y; Depasse F; Roulez F; Schrooyen M; Meire F; Abramowicz M
    Eur J Hum Genet; 2010 Jul; 18(7):761-7. PubMed ID: 20179738
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling.
    Beaufort N; Scharrer E; Kremmer E; Lux V; Ehrmann M; Huber R; Houlden H; Werring D; Haffner C; Dichgans M
    Proc Natl Acad Sci U S A; 2014 Nov; 111(46):16496-501. PubMed ID: 25369932
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.
    Intarak N; Theerapanon T; Thaweesapphithak S; Suphapeetiporn K; Porntaveetus T; Shotelersuk V
    Mol Genet Genomics; 2019 Jun; 294(3):773-787. PubMed ID: 30887145
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Abrogation of both short and long forms of latent transforming growth factor-β binding protein-1 causes defective cardiovascular development and is perinatally lethal.
    Horiguchi M; Todorovic V; Hadjiolova K; Weiskirchen R; Rifkin DB
    Matrix Biol; 2015 Apr; 43():61-70. PubMed ID: 25805620
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.
    Narooie-Nejad M; Paylakhi SH; Shojaee S; Fazlali Z; Rezaei Kanavi M; Nilforushan N; Yazdani S; Babrzadeh F; Suri F; Ronaghi M; Elahi E; Paisán-Ruiz C
    Hum Mol Genet; 2009 Oct; 18(20):3969-77. PubMed ID: 19656777
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
    Miyake N; Fukai R; Ohba C; Chihara T; Miura M; Shimizu H; Kakita A; Imagawa E; Shiina M; Ogata K; Okuno-Yuguchi J; Fueki N; Ogiso Y; Suzumura H; Watabe Y; Imataka G; Leong HY; Fattal-Valevski A; Kramer U; Miyatake S; Kato M; Okamoto N; Sato Y; Mitsuhashi S; Nishino I; Kaneko N; Nishiyama A; Tamura T; Mizuguchi T; Nakashima M; Tanaka F; Saitsu H; Matsumoto N
    Am J Hum Genet; 2016 Oct; 99(4):950-961. PubMed ID: 27666374
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
    Callewaert B; Su CT; Van Damme T; Vlummens P; Malfait F; Vanakker O; Schulz B; Mac Neal M; Davis EC; Lee JG; Salhi A; Unger S; Heimdal K; De Almeida S; Kornak U; Gaspar H; Bresson JL; Prescott K; Gosendi ME; Mansour S; Piérard GE; Madan-Khetarpal S; Sciurba FC; Symoens S; Coucke PJ; Van Maldergem L; Urban Z; De Paepe A
    Hum Mutat; 2013 Jan; 34(1):111-21. PubMed ID: 22829427
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
    Abu-Amero KK; Osman EA; Mousa A; Wheeler J; Whigham B; Allingham RR; Hauser MA; Al-Obeidan SA
    Mol Vis; 2011; 17():2911-9. PubMed ID: 22128238
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice.
    Heydemann A; Ceco E; Lim JE; Hadhazy M; Ryder P; Moran JL; Beier DR; Palmer AA; McNally EM
    J Clin Invest; 2009 Dec; 119(12):3703-12. PubMed ID: 19884661
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Latent TGF-β binding protein-1 deficiency decreases female fertility.
    Dietzel E; Weiskirchen S; Floehr J; Horiguchi M; Todorovic V; Rifkin DB; Jahnen-Dechent W; Weiskirchen R
    Biochem Biophys Res Commun; 2017 Jan; 482(4):1387-1392. PubMed ID: 27956181
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Contribution of the latent transforming growth factor-β binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.
    Jelodari-Mamaghani S; Haji-Seyed-Javadi R; Suri F; Nilforushan N; Yazdani S; Kamyab K; Elahi E
    Mol Vis; 2013; 19():333-47. PubMed ID: 23401661
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation.
    Siggs OM; Souzeau E; Craig JE
    Ophthalmic Genet; 2019 Feb; 40(1):12-16. PubMed ID: 30600741
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
    Noor A; Windpassinger C; Vitcu I; Orlic M; Rafiq MA; Khalid M; Malik MN; Ayub M; Alman B; Vincent JB
    Am J Hum Genet; 2009 Apr; 84(4):519-23. PubMed ID: 19344874
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetics of primary glaucoma.
    Khan AO
    Curr Opin Ophthalmol; 2011 Sep; 22(5):347-55. PubMed ID: 21730848
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.