BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

123 related articles for article (PubMed ID: 31086247)

  • 1. The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers.
    Pascolini G; Fleischer N; Ferraris A; Majore S; Grammatico P
    J Hum Genet; 2019 Aug; 64(8):721-728. PubMed ID: 31086247
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.
    Dudding-Byth T; Baxter A; Holliday EG; Hackett A; O'Donnell S; White SM; Attia J; Brunner H; de Vries B; Koolen D; Kleefstra T; Ratwatte S; Riveros C; Brain S; Lovell BC
    BMC Biotechnol; 2017 Dec; 17(1):90. PubMed ID: 29258477
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.
    Mak BC; Sanchez Russo R; Gambello MJ; Fleischer N; Black ED; Leslie E; Murphy MM; ; Mulle JG
    Am J Med Genet A; 2021 Jul; 185(7):2094-2101. PubMed ID: 33938623
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.
    Pascolini G; Valiante M; Bottillo I; Laino L; Fleischer N; Ferraris A; Grammatico P
    Eur J Med Genet; 2020 Mar; 63(3):103739. PubMed ID: 31421289
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms.
    Larizza L; Finelli P
    Clin Genet; 2019 Feb; 95(2):231-240. PubMed ID: 29672823
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability.
    Khazanchi R; Ronspies CA; Smith SC; Starr LJ
    Am J Med Genet A; 2019 May; 179(5):808-812. PubMed ID: 30838730
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.
    Gripp KW; Baker L; Telegrafi A; Monaghan KG
    Am J Med Genet A; 2016 Jul; 170(7):1754-62. PubMed ID: 27112773
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
    Amudhavalli SM; Hanson R; Angle B; Bontempo K; Gripp KW
    Am J Med Genet A; 2018 Jul; 176(7):1648-1656. PubMed ID: 30160832
    [TBL] [Abstract][Full Text] [Related]  

  • 9. HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
    Burkardt DD; Zachariou A; Loveday C; Allen CL; Amor DJ; Ardissone A; Banka S; Bourgois A; Coubes C; Cytrynbaum C; Faivre L; Marion G; Horton R; Kotzot D; Lay-Son G; Lees M; Low K; Luk HM; Mark P; McConkie-Rosell A; McDonald M; Pappas J; Phillipe C; Shears D; Skotko B; Stewart F; Stewart H; Temple IK; Mau-Them FT; Verdugo RA; Weksberg R; Zarate YA; Graham JM; Tatton-Brown K
    Am J Med Genet A; 2019 Oct; 179(10):2049-2055. PubMed ID: 31400068
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.
    Kimura Y; Akahira-Azuma M; Harada N; Enomoto Y; Tsurusaki Y; Kurosawa K
    Congenit Anom (Kyoto); 2018 Nov; 58(6):188-190. PubMed ID: 29381230
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
    Wenger TL; Harr M; Ricciardi S; Bhoj E; Santani A; Adam MP; Barnett SS; Ganetzky R; McDonald-McGinn DM; Battaglia D; Bigoni S; Selicorni A; Sorge G; Monica MD; Mari F; Andreucci E; Romano S; Cocchi G; Savasta S; Malbora B; Marangi G; Garavelli L; Zollino M; Zackai EH
    Am J Med Genet A; 2014 Oct; 164A(10):2557-66. PubMed ID: 25123255
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.
    Ziegler A; Bader P; McWalter K; Douglas G; Houdayer C; Bris C; Rouleau S; Coutant R; Colin E; Bonneau D
    Clin Genet; 2019 Oct; 96(4):354-358. PubMed ID: 31290144
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.
    Scheps KG; Francipane L; Nevado J; Basack N; Attie M; Bergonzi MF; Cerrone GE; Lapunzina P; Varela V
    Am J Med Genet A; 2016 Apr; 170A(4):986-91. PubMed ID: 26753516
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.
    Kilic E; Cetinkaya A; Utine GE; Boduroğlu K
    J Child Neurol; 2016 Jun; 31(7):913-7. PubMed ID: 26809768
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping.
    Pode-Shakked B; Finezilber Y; Levi Y; Liber S; Fleischer N; Greenbaum L; Raas-Rothschild A
    Eur J Med Genet; 2020 Jul; 63(7):103927. PubMed ID: 32298796
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.
    Van Paemel R; De Bruyne P; van der Straaten S; D'hondt M; Fränkel U; Dheedene A; Menten B; Callewaert B
    Am J Med Genet A; 2017 Nov; 173(11):3104-3108. PubMed ID: 28884947
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.
    Palumbo O; Palumbo P; Delvecchio M; Palladino T; Stallone R; Crisetti M; Zelante L; Carella M
    Am J Med Genet A; 2015 Feb; 167A(2):438-44. PubMed ID: 25428890
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.
    Galarreta CI; Wigby KM; Jones MC
    Clin Dysmorphol; 2019 Oct; 28(4):175-183. PubMed ID: 31162149
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
    Kosho T; Okamoto N; Ohashi H; Tsurusaki Y; Imai Y; Hibi-Ko Y; Kawame H; Homma T; Tanabe S; Kato M; Hiraki Y; Yamagata T; Yano S; Sakazume S; Ishii T; Nagai T; Ohta T; Niikawa N; Mizuno S; Kaname T; Naritomi K; Narumi Y; Wakui K; Fukushima Y; Miyatake S; Mizuguchi T; Saitsu H; Miyake N; Matsumoto N
    Am J Med Genet A; 2013 Jun; 161A(6):1221-37. PubMed ID: 23637025
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
    Bedeschi MF; Marangi G; Calvello MR; Ricciardi S; Leone FPC; Baccarin M; Guerneri S; Orteschi D; Murdolo M; Lattante S; Frangella S; Keena B; Harr MH; Zackai E; Zollino M
    Eur J Med Genet; 2017 Nov; 60(11):565-571. PubMed ID: 28807867
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.