BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 7834892)

  • 21. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
    Ockeloen CW; Willemsen MH; de Munnik S; van Bon BW; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RL; Smeets EE; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJ; van Heumen CC; Yntema HG; Carels CE; Kleefstra T
    Eur J Hum Genet; 2015 Sep; 23(9):1176-85. PubMed ID: 25424714
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
    Goldenberg A; Riccardi F; Tessier A; Pfundt R; Busa T; Cacciagli P; Capri Y; Coutton C; Delahaye-Duriez A; Frebourg T; Gatinois V; Guerrot AM; Genevieve D; Lecoquierre F; Jacquette A; Khau Van Kien P; Leheup B; Marlin S; Verloes A; Michaud V; Nadeau G; Mignot C; Parent P; Rossi M; Toutain A; Schaefer E; Thauvin-Robinet C; Van Maldergem L; Thevenon J; Satre V; Perrin L; Vincent-Delorme C; Sorlin A; Missirian C; Villard L; Mancini J; Saugier-Veber P; Philip N
    Am J Med Genet A; 2016 Nov; 170(11):2847-2859. PubMed ID: 27605097
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
    Sirmaci A; Spiliopoulos M; Brancati F; Powell E; Duman D; Abrams A; Bademci G; Agolini E; Guo S; Konuk B; Kavaz A; Blanton S; Digilio MC; Dallapiccola B; Young J; Zuchner S; Tekin M
    Am J Hum Genet; 2011 Aug; 89(2):289-94. PubMed ID: 21782149
    [TBL] [Abstract][Full Text] [Related]  

  • 24. KBG syndrome in two patients from Egypt.
    Sayed ISM; Abdel-Hamid MS; Abdel-Salam GMH
    Am J Med Genet A; 2020 Jun; 182(6):1309-1312. PubMed ID: 32222090
    [TBL] [Abstract][Full Text] [Related]  

  • 25. KBG syndrome presenting with brachydactyly type E.
    Libianto R; Wu KH; Devery S; Eisman JA; Center JR
    Bone; 2019 Jun; 123():18-22. PubMed ID: 30877071
    [TBL] [Abstract][Full Text] [Related]  

  • 26. KBG syndrome in a Chinese population: A case series.
    Ho S; Luk HM; Lo IFM
    Am J Med Genet A; 2022 Jun; 188(6):1693-1699. PubMed ID: 35174959
    [TBL] [Abstract][Full Text] [Related]  

  • 27. KBG syndrome in a cohort of Italian patients.
    Brancati F; D'Avanzo MG; Digilio MC; Sarkozy A; Biondi M; De Brasi D; Mingarelli R; Dallapiccola B
    Am J Med Genet A; 2004 Dec; 131(2):144-9. PubMed ID: 15523620
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Clinical variability in KBG syndrome: report of three unrelated families.
    Maegawa GH; Leite JC; Félix TM; da Silveira HL; da Silveira HE
    Am J Med Genet A; 2004 Dec; 131(2):150-4. PubMed ID: 15384099
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion.
    Xu M; Zhou H; Yong J; Cong P; Li C; Yu Y; Qi M
    Eur J Med Genet; 2013 May; 56(5):245-50. PubMed ID: 23369839
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Exploring the behavioral and cognitive phenotype of KBG syndrome.
    van Dongen LCM; Wingbermühle E; van der Veld WM; Vermeulen K; Bos-Roubos AG; Ockeloen CW; Kleefstra T; Egger JIM
    Genes Brain Behav; 2019 Apr; 18(4):e12553. PubMed ID: 30786142
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
    Borja N; Zafeer MF; Rodriguez JA; Morel Swols D; Thorson W; Bademci G; Tekin M
    Am J Med Genet A; 2023 Apr; 191(4):1044-1049. PubMed ID: 36628575
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical and genetic aspects of KBG syndrome.
    Low K; Ashraf T; Canham N; Clayton-Smith J; Deshpande C; Donaldson A; Fisher R; Flinter F; Foulds N; Fryer A; Gibson K; Hayes I; Hills A; Holder S; Irving M; Joss S; Kivuva E; Lachlan K; Magee A; McConnell V; McEntagart M; Metcalfe K; Montgomery T; Newbury-Ecob R; Stewart F; Turnpenny P; Vogt J; Fitzpatrick D; Williams M; ; Smithson S
    Am J Med Genet A; 2016 Nov; 170(11):2835-2846. PubMed ID: 27667800
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
    De Bernardi ML; Ivanovski I; Caraffi SG; Maini I; Street ME; Bayat A; Zollino M; Lepri FR; Gnazzo M; Errichiello E; Superti-Furga A; Garavelli L
    Am J Med Genet A; 2018 Sep; 176(9):1991-1995. PubMed ID: 30088855
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.
    Tekin M; Kavaz A; Berberoğlu M; Fitoz S; Ekim M; Ocal G; Akar N
    Am J Med Genet A; 2004 Oct; 130A(3):284-7. PubMed ID: 15378538
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Further delineation of the KBG syndrome.
    Devriendt K; Holvoet M; Fryns JP
    Genet Couns; 1998; 9(3):191-4. PubMed ID: 9777340
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Tricho-dento-osseous syndrome: heterogeneity or clinical variability.
    Shapiro SD; Quattromani FL; Jorgenson RJ; Young RS
    Am J Med Genet; 1983 Oct; 16(2):225-36. PubMed ID: 6650567
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?
    Wolff G; Zimmermann E; Zimmerhackl B; Harnasch C; Jung C; Back E
    J Med Genet; 1994 Jan; 31(1):65-7. PubMed ID: 8151642
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.
    Nardello R; Mangano GD; Antona V; Fontana A; Striano P; Giorgio E; Brusco A; Mangano S; Salpietro V
    Seizure; 2021 Feb; 85():151-154. PubMed ID: 33476899
    [No Abstract]   [Full Text] [Related]  

  • 39. Two brothers with Martsolf's syndrome.
    Sánchez JM; Barreiro C; Freilij H
    J Med Genet; 1985 Aug; 22(4):308-10. PubMed ID: 4045961
    [TBL] [Abstract][Full Text] [Related]  

  • 40. KBG syndrome involving a single-nucleotide duplication in
    Kleyner R; Malcolmson J; Tegay D; Ward K; Maughan A; Maughan G; Nelson L; Wang K; Robison R; Lyon GJ
    Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001131. PubMed ID: 27900361
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.