BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 24891185)

  • 61. The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.
    D'Arrigo S; Gavazzi F; Alfei E; Zuffardi O; Montomoli C; Corso B; Buzzi E; Sciacca FL; Bulgheroni S; Riva D; Pantaleoni C
    J Child Neurol; 2016 May; 31(6):691-9. PubMed ID: 26511719
    [TBL] [Abstract][Full Text] [Related]  

  • 62. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
    Montgomery ND; Turcott CM; Tepperberg JH; McDonald MT; Aylsworth AS
    Am J Med Genet A; 2013 Jan; 161A(1):198-202. PubMed ID: 23239541
    [TBL] [Abstract][Full Text] [Related]  

  • 63. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
    Dennert N; Engels H; Cremer K; Becker J; Wohlleber E; Albrecht B; Ehret JK; Lüdecke HJ; Suri M; Carignani G; Renieri A; Kukuk GM; Wieland T; Andrieux J; Strom TM; Wieczorek D; Dieux-Coëslier A; Zink AM
    Am J Med Genet A; 2017 Feb; 173(2):435-443. PubMed ID: 27862890
    [TBL] [Abstract][Full Text] [Related]  

  • 64. De novo mutations in the genome organizer CTCF cause intellectual disability.
    Gregor A; Oti M; Kouwenhoven EN; Hoyer J; Sticht H; Ekici AB; Kjaergaard S; Rauch A; Stunnenberg HG; Uebe S; Vasileiou G; Reis A; Zhou H; Zweier C
    Am J Hum Genet; 2013 Jul; 93(1):124-31. PubMed ID: 23746550
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Rare variant of TBL1XR1 in West syndrome: A case report.
    Shen Y; Yuan M; Luo H; Yang Z; Liang M; Gan J
    Mol Genet Genomic Med; 2022 Jul; 10(7):e1991. PubMed ID: 35611576
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability.
    Micleaa D; Al-Khzouza C; Osan S; Bucerzan S; Cret V; Popp RA; Puiu M; Chirita-Emandi A; Zimbru C; Ghervan C
    J Pediatr Endocrinol Metab; 2019 Jul; 32(7):667-674. PubMed ID: 31150357
    [TBL] [Abstract][Full Text] [Related]  

  • 67. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
    Nabais Sá MJ; El Tekle G; de Brouwer APM; Sawyer SL; Del Gaudio D; Parker MJ; Kanani F; van den Boogaard MH; van Gassen K; Van Allen MI; Wierenga K; Purcarin G; Elias ER; Begtrup A; Keller-Ramey J; Bernasocchi T; van de Wiel L; Gilissen C; Venselaar H; Pfundt R; Vissers LELM; Theurillat JP; de Vries BBA
    Am J Hum Genet; 2020 Mar; 106(3):405-411. PubMed ID: 32109420
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
    Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid BM; Kant SG; Ruivenkamp CA; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjöld M; Mäkitie O; Nordgren A
    J Med Genet; 2014 Jan; 51(1):45-54. PubMed ID: 24203977
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.
    Shi S; Lin S; Chen B; Zhou Y
    Mol Med Rep; 2017 Nov; 16(5):6837-6845. PubMed ID: 28901431
    [TBL] [Abstract][Full Text] [Related]  

  • 70. TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.
    Palumbo O; Fichera M; Palumbo P; Rizzo R; Mazzolla E; Cocuzza DM; Carella M; Mattina T
    Am J Med Genet A; 2014 Mar; 164A(3):828-33. PubMed ID: 24458984
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.
    Nowakowska BA; Obersztyn E; Szymańska K; Bekiesińska-Figatowska M; Xia Z; Ricks CB; Bocian E; Stockton DW; Szczałuba K; Nawara M; Patel A; Scott DA; Cheung SW; Bohan TP; Stankiewicz P
    Am J Med Genet B Neuropsychiatr Genet; 2010 Jul; 153B(5):1042-51. PubMed ID: 20333642
    [TBL] [Abstract][Full Text] [Related]  

  • 72. De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
    Hamdan FF; Daoud H; Rochefort D; Piton A; Gauthier J; Langlois M; Foomani G; Dobrzeniecka S; Krebs MO; Joober R; Lafrenière RG; Lacaille JC; Mottron L; Drapeau P; Beauchamp MH; Phillips MS; Fombonne E; Rouleau GA; Michaud JL
    Am J Hum Genet; 2010 Nov; 87(5):671-8. PubMed ID: 20950788
    [TBL] [Abstract][Full Text] [Related]  

  • 73. De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
    Kuroda Y; Ohashi I; Tominaga M; Saito T; Nagai J; Ida K; Naruto T; Masuno M; Kurosawa K
    Am J Med Genet A; 2014 Jun; 164A(6):1550-4. PubMed ID: 24668897
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
    Cohen JS; Srivastava S; Farwell Hagman KD; Shinde DN; Huether R; Darcy D; Wallerstein R; Houge G; Berland S; Monaghan KG; Poretti A; Wilson AL; Chung WK; Fatemi A
    Clin Genet; 2017 May; 91(5):697-707. PubMed ID: 27598823
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
    Lo-Castro A; Brancati F; Digilio MC; Garaci FG; Bollero P; Alfieri P; Curatolo P
    Am J Med Genet B Neuropsychiatr Genet; 2013 Jan; 162B(1):17-23. PubMed ID: 23184435
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.
    Hyder Z; Fairclough A; Douzgou S
    Clin Dysmorphol; 2019 Jul; 28(3):131-136. PubMed ID: 31045593
    [TBL] [Abstract][Full Text] [Related]  

  • 77. A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis.
    Mimouni-Bloch A; Yeshaya J; Kahana S; Maya I; Basel-Vanagaite L
    Eur J Paediatr Neurol; 2015 Nov; 19(6):711-5. PubMed ID: 26278498
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

  • 79. A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.
    Ma R; Deng L; Xia Y; Wei X; Cao Y; Guo R; Zhang R; Guo J; Liang D; Wu L
    Sci Rep; 2017 Mar; 7():44446. PubMed ID: 28322228
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
    Takenouchi T; Miura K; Uehara T; Mizuno S; Kosaki K
    Am J Med Genet A; 2016 Oct; 170(10):2587-90. PubMed ID: 27256762
    [TBL] [Abstract][Full Text] [Related]  

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