BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 32450157)

  • 1. Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.
    Yang N; Wu N; Dong S; Zhang L; Zhao Y; Chen W; Du R; Song C; Ren X; Liu J; Pehlivan D; Liu Z; Rao J; Wang C; Zhao S; Breman AM; Xue H; Sun H; Shen J; Zhang S; Posey JE; Xu H; Jin L; Zhang J; Liu P; Sanna-Cherchi S; Qiu G; Wu Z; Lupski JR; Zhang F
    Kidney Int; 2020 Oct; 98(4):1020-1030. PubMed ID: 32450157
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract.
    Dong S; Wang C; Li X; Shen Q; Fu X; Wu M; Song C; Yang N; Wu Y; Wang H; Jin L; Xu H; Zhang F
    Mol Genet Genomics; 2019 Apr; 294(2):493-500. PubMed ID: 30604070
    [TBL] [Abstract][Full Text] [Related]  

  • 3. TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
    Wu N; Ming X; Xiao J; Wu Z; Chen X; Shinawi M; Shen Y; Yu G; Liu J; Xie H; Gucev ZS; Liu S; Yang N; Al-Kateb H; Chen J; Zhang J; Hauser N; Zhang T; Tasic V; Liu P; Su X; Pan X; Liu C; Wang L; Shen J; Shen J; Chen Y; Zhang T; Zhang J; Choy KW; Wang J; Wang Q; Li S; Zhou W; Guo J; Wang Y; Zhang C; Zhao H; An Y; Zhao Y; Wang J; Liu Z; Zuo Y; Tian Y; Weng X; Sutton VR; Wang H; Ming Y; Kulkarni S; Zhong TP; Giampietro PF; Dunwoodie SL; Cheung SW; Zhang X; Jin L; Lupski JR; Qiu G; Zhang F
    N Engl J Med; 2015 Jan; 372(4):341-50. PubMed ID: 25564734
    [TBL] [Abstract][Full Text] [Related]  

  • 4. TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
    Li G; Strong A; Wang H; Kim JS; Watson D; Zhao S; Vaccaro C; Hartung E; Hakonarson H; Zhang TJ; Giampietro PF; Wu N
    Am J Med Genet A; 2022 Dec; 188(12):3469-3481. PubMed ID: 36161696
    [TBL] [Abstract][Full Text] [Related]  

  • 5. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
    Liu J; Wu N; ; Yang N; Takeda K; Chen W; Li W; Du R; Liu S; Zhou Y; Zhang L; Liu Z; Zuo Y; Zhao S; Blank R; Pehlivan D; Dong S; Zhang J; Shen J; Si N; Wang Y; Liu G; Li S; Zhao Y; Zhao H; Chen Y; Zhao Y; Song X; Hu J; Lin M; Tian Y; Yuan B; Yu K; Niu Y; Yu B; Li X; Chen J; Yan Z; Zhu Q; Meng X; Chen X; Su J; Zhao X; Wang X; Ming Y; Li X; Raggio CL; Zhang B; Weng X; Zhang S; Zhang X; Watanabe K; Matsumoto M; ; Jin L; Shen Y; Sobreira NL; Posey JE; Giampietro PF; Valle D; ; Liu P; Wu Z; Ikegawa S; Lupski JR; Zhang F; Qiu G
    Genet Med; 2019 Jul; 21(7):1548-1558. PubMed ID: 30636772
    [TBL] [Abstract][Full Text] [Related]  

  • 6. TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.
    Yang N; Wu N; Zhang L; Zhao Y; Liu J; Liang X; Ren X; Li W; Chen W; Dong S; Zhao S; Lin J; Xiang H; Xue H; Chen L; Sun H; Zhang J; Shi J; Zhang S; Lu D; Wu X; Jin L; Ding J; Qiu G; Wu Z; Lupski JR; Zhang F
    Hum Mol Genet; 2019 Feb; 28(4):539-547. PubMed ID: 30307510
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Increased
    Ren X; Yang N; Wu N; Xu X; Chen W; Zhang L; Li Y; Du RQ; Dong S; Zhao S; Chen S; Jiang LP; Wang L; Zhang J; Wu Z; Jin L; Qiu G; Lupski JR; Shi J; Zhang F; Liu P
    J Med Genet; 2020 Jun; 57(6):371-379. PubMed ID: 31888956
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
    Lefebvre M; Duffourd Y; Jouan T; Poe C; Jean-Marçais N; Verloes A; St-Onge J; Riviere JB; Petit F; Pierquin G; Demeer B; Callier P; Thauvin-Robinet C; Faivre L; Thevenon J
    Clin Genet; 2017 Jun; 91(6):908-912. PubMed ID: 27861764
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
    Takeda K; Kou I; Kawakami N; Iida A; Nakajima M; Ogura Y; Imagawa E; Miyake N; Matsumoto N; Yasuhiko Y; Sudo H; Kotani T; ; Nakamura M; Matsumoto M; Watanabe K; Ikegawa S
    Hum Mutat; 2017 Mar; 38(3):317-323. PubMed ID: 28054739
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Bi-allelic loss of function variants of
    Otomo N; Takeda K; Kawai S; Kou I; Guo L; Osawa M; Alev C; Kawakami N; Miyake N; Matsumoto N; Yasuhiko Y; Kotani T; Suzuki T; Uno K; Sudo H; Inami S; Taneichi H; Shigematsu H; Watanabe K; Yonezawa I; Sugawara R; Taniguchi Y; Minami S; Kaneko K; Nakamura M; Matsumoto M; Toguchida J; Watanabe K; Ikegawa S
    J Med Genet; 2019 Sep; 56(9):622-628. PubMed ID: 31015262
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
    Verbitsky M; Westland R; Perez A; Kiryluk K; Liu Q; Krithivasan P; Mitrotti A; Fasel DA; Batourina E; Sampson MG; Bodria M; Werth M; Kao C; Martino J; Capone VP; Vivante A; Shril S; Kil BH; Marasà M; Zhang JY; Na YJ; Lim TY; Ahram D; Weng PL; Heinzen EL; Carrea A; Piaggio G; Gesualdo L; Manca V; Masnata G; Gigante M; Cusi D; Izzi C; Scolari F; van Wijk JAE; Saraga M; Santoro D; Conti G; Zamboli P; White H; Drozdz D; Zachwieja K; Miklaszewska M; Tkaczyk M; Tomczyk D; Krakowska A; Sikora P; Jarmoliński T; Borszewska-Kornacka MK; Pawluch R; Szczepanska M; Adamczyk P; Mizerska-Wasiak M; Krzemien G; Szmigielska A; Zaniew M; Dobson MG; Darlow JM; Puri P; Barton DE; Furth SL; Warady BA; Gucev Z; Lozanovski VJ; Tasic V; Pisani I; Allegri L; Rodas LM; Campistol JM; Jeanpierre C; Alam S; Casale P; Wong CS; Lin F; Miranda DM; Oliveira EA; Simões-E-Silva AC; Barasch JM; Levy B; Wu N; Hildebrandt F; Ghiggeri GM; Latos-Bielenska A; Materna-Kiryluk A; Zhang F; Hakonarson H; Papaioannou VE; Mendelsohn CL; Gharavi AG; Sanna-Cherchi S
    Nat Genet; 2019 Jan; 51(1):117-127. PubMed ID: 30578417
    [TBL] [Abstract][Full Text] [Related]  

  • 12.
    Le Tanno P; Breton J; Bidart M; Satre V; Harbuz R; Ray PF; Bosson C; Dieterich K; Jaillard S; Odent S; Poke G; Beddow R; Digilio MC; Novelli A; Bernardini L; Pisanti MA; Mackenroth L; Hackmann K; Vogel I; Christensen R; Fokstuen S; Béna F; Amblard F; Devillard F; Vieville G; Apostolou A; Jouk PS; Guebre-Egziabher F; Sartelet H; Coutton C
    J Med Genet; 2017 Jul; 54(7):502-510. PubMed ID: 28270404
    [TBL] [Abstract][Full Text] [Related]  

  • 13. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
    Chen W; Lin J; Wang L; Li X; Zhao S; Liu J; Akdemir ZC; Zhao Y; Du R; Ye Y; Song X; Zhang Y; Yan Z; Yang X; Lin M; Shen J; Wang S; Gao N; Yang Y; Liu Y; Li W; Liu J; Zhang N; Yang X; Xu Y; Zhang J; Delgado MR; Posey JE; Qiu G; Rios JJ; Liu P; Wise CA; Zhang F; Wu Z; Lupski JR; Wu N
    Hum Mutat; 2020 Jan; 41(1):182-195. PubMed ID: 31471994
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Deletion in the
    Kanda S; Ohmuraya M; Akagawa H; Horita S; Yoshida Y; Kaneko N; Sugawara N; Ishizuka K; Miura K; Harita Y; Yamamoto T; Oka A; Araki K; Furukawa T; Hattori M
    J Am Soc Nephrol; 2020 Jan; 31(1):139-147. PubMed ID: 31862704
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
    Münch J; Engesser M; Schönauer R; Hamm JA; Hartig C; Hantmann E; Akay G; Pehlivan D; Mitani T; Coban Akdemir Z; Tüysüz B; Shirakawa T; Dateki S; Claus LR; van Eerde AM; ; Smol T; Devisme L; Franquet H; Attié-Bitach T; Wagner T; Bergmann C; Höhn AK; Shril S; Pollack A; Wenger T; Scott AA; Paolucci S; Buchan J; Gabriel GC; Posey JE; Lupski JR; Petit F; McCarthy AA; Pazour GJ; Lo CW; Popp B; Halbritter J
    Kidney Int; 2022 May; 101(5):1039-1053. PubMed ID: 35227688
    [TBL] [Abstract][Full Text] [Related]  

  • 16. TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.
    Sandbacka M; Laivuori H; Freitas É; Halttunen M; Jokimaa V; Morin-Papunen L; Rosenberg C; Aittomäki K
    Orphanet J Rare Dis; 2013 Aug; 8():125. PubMed ID: 23954021
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
    Kosfeld A; Kreuzer M; Daniel C; Brand F; Schäfer AK; Chadt A; Weiss AC; Riehmer V; Jeanpierre C; Klintschar M; Bräsen JH; Amann K; Pape L; Kispert A; Al-Hasani H; Haffner D; Weber RG
    Hum Genet; 2016 Jan; 135(1):69-87. PubMed ID: 26572137
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract.
    Negrisolo S; Centi S; Benetti E; Ghirardo G; Della Vella M; Murer L; Artifoni L
    J Nephrol; 2014 Dec; 27(6):667-71. PubMed ID: 24899122
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update.
    Tewes AC; Hucke J; Römer T; Kapczuk K; Schippert C; Hillemanns P; Wieacker P; Ledig S
    Sex Dev; 2019; 13(1):35-40. PubMed ID: 30739119
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).
    Neirijnck Y; Reginensi A; Renkema KY; Massa F; Kozlov VM; Dhib H; Bongers EMHF; Feitz WF; van Eerde AM; Lefebvre V; Knoers NVAM; Tabatabaei M; Schulz H; McNeill H; Schaefer F; Wegner M; Sock E; Schedl A
    Kidney Int; 2018 May; 93(5):1142-1153. PubMed ID: 29459093
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.