BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 33361104)

  • 21. Koolen-de Vries syndrome: A de novo missense KANSL1 variant.
    Yimenicioglu S; Kocaaga A
    Clin Neurol Neurosurg; 2022 Nov; 222():107444. PubMed ID: 36150256
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
    Awamleh Z; Choufani S; Wu W; Rots D; Dingemans AJM; Nadif Kasri N; Boronat S; Ibañez-Mico S; Cuesta Herraiz L; Ferrer I; Martínez Carrascal A; Pérez-Jurado LA; Aznar Lain G; Ortigoza-Escobar JD; de Vries BBA; Koolen DA; Weksberg R
    Eur J Hum Genet; 2024 Mar; 32(3):324-332. PubMed ID: 38282074
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
    Ciaccio C; Dordoni C; Ritelli M; Colombi M
    Cytogenet Genome Res; 2016; 150(1):40-45. PubMed ID: 27852077
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
    Koolen DA; Kramer JM; Neveling K; Nillesen WM; Moore-Barton HL; Elmslie FV; Toutain A; Amiel J; Malan V; Tsai AC; Cheung SW; Gilissen C; Verwiel ET; Martens S; Feuth T; Bongers EM; de Vries P; Scheffer H; Vissers LE; de Brouwer AP; Brunner HG; Veltman JA; Schenck A; Yntema HG; de Vries BB
    Nat Genet; 2012 Apr; 44(6):639-41. PubMed ID: 22544363
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
    Brand F; Vijayananth A; Hsieh TC; Schmidt A; Peters S; Mangold E; Cremer K; Bender T; Sivalingam S; Hundertmark H; Knaus A; Engels H; Krawitz PM; Perne C
    Hum Mutat; 2022 Nov; 43(11):1659-1665. PubMed ID: 36104871
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Koolen-de Vries syndrome associated with continuous spike-wave in sleep.
    Khan AQ; Coorg RK; Gill D; Marini C; Myers KA
    Epileptic Disord; 2022 Oct; 24(5):928-933. PubMed ID: 35811432
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Targeting impaired autophagy as a therapeutic strategy for Koolen-de Vries syndrome.
    Li T; Li A; Pan X
    Autophagy; 2022 Dec; 18(12):3040-3042. PubMed ID: 35468045
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.
    Bouman A; Bouwmeester RN; van Vlimmeren LA; Burger P; Mandel JL; de Vries BBA; de Kleuver M; Klein WM; Geelen JM; Koolen DA
    Am J Med Genet A; 2023 Sep; 191(9):2346-2355. PubMed ID: 37350176
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Anesthesia management for a child with the Koolen-de Vries syndrome: a case report.
    Zhao Y; Zuo Y
    BMC Anesthesiol; 2024 Apr; 24(1):143. PubMed ID: 38614993
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Atypical Café-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).
    Han AM; Kusari A; Soeprono F; Eichenfield LF
    Pediatr Dermatol; 2019 Jul; 36(4):e97-e98. PubMed ID: 31125459
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.
    Martorell L; Yubero D; Capdevila EC; Fernández Isern G; Salinas D; Mari Vico R; Rebollo M; Muchart J; Armstrong J; Ortigoza-Escobar JD
    Clin Genet; 2022 May; 101(5-6):575-576. PubMed ID: 35191016
    [No Abstract]   [Full Text] [Related]  

  • 32. Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.
    García-Santiago FA; Martínez-Payo C; Mansilla E; Santos-Simarro F; Ruiz de Azua Ballesteros M; Mori MÁ; Antolín Alvarado E; Nieto Y; Vallcorba I; Tenorio J; Nevado J; Lapunzina P
    Mol Genet Genomic Med; 2021 May; 9(5):e1649. PubMed ID: 33733630
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
    Woodfin T; Stoops C; Philips JB; Lose E; Mikhail FM; Hurst A
    Mol Genet Genomic Med; 2019 Aug; 7(8):e829. PubMed ID: 31250568
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.
    Nascimento GR; Pinto IP; de Melo AV; da Cruz DM; Ribeiro CL; da Silva CC; da Cruz AD; Minasi LB
    Mol Syndromol; 2017 May; 8(3):155-160. PubMed ID: 28588437
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.
    St John M; van Reyk O; Koolen DA; de Vries BBA; Amor DJ; Morgan AT
    Eur J Hum Genet; 2023 May; 31(5):531-540. PubMed ID: 36529818
    [TBL] [Abstract][Full Text] [Related]  

  • 36. TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME.
    Uctepe E; Aktas D; Alikasifoglu M; Gunduz E; Sonmez FM
    Genet Couns; 2016; 27(3):357-365. PubMed ID: 30204964
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Vitiligo in a 9-year-old girl with Koolen-de Vries syndrome.
    Lobo Y; Wheller L
    Dermatol Online J; 2021 Apr; 27(4):. PubMed ID: 33999592
    [No Abstract]   [Full Text] [Related]  

  • 38. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
    van der Donk R; Jansen S; Schuurs-Hoeijmakers JHM; Koolen DA; Goltstein LCMJ; Hoischen A; Brunner HG; Kemmeren P; Nellåker C; Vissers LELM; de Vries BBA; Hehir-Kwa JY
    Genet Med; 2019 Aug; 21(8):1719-1725. PubMed ID: 30568311
    [TBL] [Abstract][Full Text] [Related]  

  • 39. The neuropsychiatry and multisystem features of the Smith-Magenis syndrome: a review.
    Shelley BP; Robertson MM
    J Neuropsychiatry Clin Neurosci; 2005; 17(1):91-7. PubMed ID: 15746488
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.