BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 21567932)

  • 21. A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.
    Imitola J; Khurana DS; Teplyuk NM; Zucker M; Jethva R; Legido A; Krichevsky AM; Frangieh M; Walsh CA; Carvalho KS
    Am J Med Genet A; 2015 Nov; 167A(11):2808-16. PubMed ID: 26238961
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.
    Sheikhzadeh S; Brockstaedt L; Habermann CR; Sondermann C; Bannas P; Mir TS; Staebler A; Seidel H; Keyser B; Arslan-Kirchner M; Kutsche K; Berger J; Blankenberg S; von Kodolitsch Y
    Clin Genet; 2014 Dec; 86(6):545-51. PubMed ID: 24344637
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
    Togashi Y; Sakoda H; Nishimura A; Matsumoto N; Hiraoka H; Matsuzawa Y
    Intern Med; 2007; 46(24):1995-2000. PubMed ID: 18084123
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome.
    Seike Y; Matsuda H; Ishibashi-Ueda H; Morisaki H; Morisaki T; Minatoya K; Ogino H
    Ann Thorac Cardiovasc Surg; 2021 Feb; 27(1):56-63. PubMed ID: 33408307
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
    Disabella E; Grasso M; Marziliano N; Ansaldi S; Lucchelli C; Porcu E; Tagliani M; Pilotto A; Diegoli M; Lanzarini L; Malattia C; Pelliccia A; Ficcadenti A; Gabrielli O; Arbustini E
    Eur J Hum Genet; 2006 Jan; 14(1):34-8. PubMed ID: 16251899
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Multiple facial milia in patients with Loeys-Dietz syndrome.
    Lloyd BM; Braverman AC; Anadkat MJ
    Arch Dermatol; 2011 Feb; 147(2):223-6. PubMed ID: 20956634
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS).
    Maleszewski JJ; Miller DV; Lu J; Dietz HC; Halushka MK
    Am J Surg Pathol; 2009 Feb; 33(2):194-201. PubMed ID: 18852674
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections.
    Fujita D; Takeda N; Morita H; Kato M; Nishimura H; Inuzuka R; Taniguchi Y; Nawata K; Hyodo H; Imai Y; Hirata Y; Komuro I
    Int J Cardiol; 2015 Dec; 201():288-90. PubMed ID: 26301661
    [No Abstract]   [Full Text] [Related]  

  • 29. Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.
    Concolino D; Rossi E; Strisciuglio P; Iembo MA; Giorda R; Ciccone R; Tenconi R; Zuffardi O
    J Med Genet; 2007 Oct; 44(10):647-50. PubMed ID: 17911656
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
    Sakai H; Visser R; Ikegawa S; Ito E; Numabe H; Watanabe Y; Mikami H; Kondoh T; Kitoh H; Sugiyama R; Okamoto N; Ogata T; Fodde R; Mizuno S; Takamura K; Egashira M; Sasaki N; Watanabe S; Nishimaki S; Takada F; Nagai T; Okada Y; Aoka Y; Yasuda K; Iwasa M; Kogaki S; Harada N; Mizuguchi T; Matsumoto N
    Am J Med Genet A; 2006 Aug; 140(16):1719-25. PubMed ID: 16835936
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.
    Castronovo C; Rusconi D; Crippa M; Giardino D; Gervasini C; Milani D; Cereda A; Larizza L; Selicorni A; Finelli P
    Am J Med Genet A; 2013 Mar; 161A(3):611-8. PubMed ID: 23341071
    [TBL] [Abstract][Full Text] [Related]  

  • 32. PTCH1 duplication in a family with microcephaly and mild developmental delay.
    Derwińska K; Smyk M; Cooper ML; Bader P; Cheung SW; Stankiewicz P
    Eur J Hum Genet; 2009 Feb; 17(2):267-71. PubMed ID: 18830227
    [TBL] [Abstract][Full Text] [Related]  

  • 33. First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
    Baban A; Magliozzi M; Loeys B; Adorisio R; Alesi V; Secinaro A; Corica B; Vricella L; Dietz HC; Drago F; Novelli A; Amodeo A
    BMC Med Genet; 2018 Sep; 19(1):170. PubMed ID: 30219046
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.
    Furtado LV; Wooderchak-Donahue W; Rope AF; Yetman AT; Lewis T; Plant P; Bayrak-Toydemir P
    BMC Med Genet; 2011 Sep; 12():119. PubMed ID: 21936929
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1.
    Zangwill SD; Brown MD; Bryke CR; Cava JR; Segura AD
    Congenit Heart Dis; 2006 Sep; 1(5):229-32. PubMed ID: 18377530
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
    Shinawi M; Liu P; Kang SH; Shen J; Belmont JW; Scott DA; Probst FJ; Craigen WJ; Graham BH; Pursley A; Clark G; Lee J; Proud M; Stocco A; Rodriguez DL; Kozel BA; Sparagana S; Roeder ER; McGrew SG; Kurczynski TW; Allison LJ; Amato S; Savage S; Patel A; Stankiewicz P; Beaudet AL; Cheung SW; Lupski JR
    J Med Genet; 2010 May; 47(5):332-41. PubMed ID: 19914906
    [TBL] [Abstract][Full Text] [Related]  

  • 37. International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).
    Jondeau G; Ropers J; Regalado E; Braverman A; Evangelista A; Teixedo G; De Backer J; Muiño-Mosquera L; Naudion S; Zordan C; Morisaki T; Morisaki H; Von Kodolitsch Y; Dupuis-Girod S; Morris SA; Jeremy R; Odent S; Adès LC; Bakshi M; Holman K; LeMaire S; Milleron O; Langeois M; Spentchian M; Aubart M; Boileau C; Pyeritz R; Milewicz DM;
    Circ Cardiovasc Genet; 2016 Dec; 9(6):548-558. PubMed ID: 27879313
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.
    Pees C; Michel-Behnke I; Hagl M; Laccone F
    Clin Genet; 2014 Dec; 86(6):552-7. PubMed ID: 24199744
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
    Kirmani S; Tebben PJ; Lteif AN; Gordon D; Clarke BL; Hefferan TE; Yaszemski MJ; McGrann PS; Lindor NM; Ellison JW
    Am J Med Genet A; 2010 Apr; 152A(4):1016-9. PubMed ID: 20358619
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
    Arslan-Kirchner M; Epplen JT; Faivre L; Jondeau G; Schmidtke J; De Paepe A; Loeys B
    Eur J Hum Genet; 2011 Oct; 19(10):. PubMed ID: 21522183
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.