These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 31405577)

  • 1. A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders.
    Miolo G; Giuffrida MG; Corona G; Capalbo A; Pivetta B; Tessitori G; Bernardini L
    Eur J Med Genet; 2019 Sep; 62(9):103558. PubMed ID: 31405577
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.
    Lebrun N; Mehler-Jacob C; Poirier K; Zordan C; Lacombe D; Carion N; Billuart P; Bienvenu T
    Gene; 2018 Dec; 679():305-313. PubMed ID: 30217758
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.
    Mangano GD; Antona V; Calì E; Fontana A; Salpietro V; Houlden H; Veggiotti P; Nardello R
    Seizure; 2022 Apr; 97():20-22. PubMed ID: 35278764
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.
    Palumbo O; Palumbo P; Di Muro E; Cinque L; Petracca A; Carella M; Castori M
    Genes (Basel); 2020 Jun; 11(6):. PubMed ID: 32604767
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
    Rots D; Rooney K; Relator R; Kerkhof J; McConkey H; Pfundt R; Marcelis C; Willemsen MH; van Hagen JM; Zwijnenburg P; Alders M; Õunap K; Reimand T; Fjodorova O; Berland S; Liahjell EB; Bojovic O; Kriek M; Ruivenkamp C; Bonati MT; Brunner HG; Vissers LELM; Sadikovic B; Kleefstra T
    Clin Genet; 2024 Jun; 105(6):655-660. PubMed ID: 38384171
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 7p22.1 microduplication syndrome: Refinement of the critical region.
    Ronzoni L; Grassi FS; Pezzani L; Tucci A; Baccarin M; Esposito S; Milani D
    Eur J Med Genet; 2017 Feb; 60(2):114-117. PubMed ID: 27866048
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous
    Lebon S; Quinodoz M; Peter VG; Gengler C; Blanchard G; Cina V; Campos-Xavier B; Rivolta C; Superti-Furga A
    Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573379
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.
    Moey C; Hinze SJ; Brueton L; Morton J; McMullan DJ; Kamien B; Barnett CP; Brunetti-Pierri N; Nicholl J; Gecz J; Shoubridge C
    Eur J Hum Genet; 2016 Mar; 24(3):373-80. PubMed ID: 26059843
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.
    Tassano E; Giacomini T; Severino M; Gamucci A; Fiorio P; Gimelli G; Ronchetto P
    Cytogenet Genome Res; 2017; 152(1):22-28. PubMed ID: 28605748
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
    Riehmer V; Erger F; Herkenrath P; Seland S; Jackels M; Wiater A; Heller R; Beck BB; Netzer C
    Am J Med Genet A; 2017 Aug; 173(8):2132-2138. PubMed ID: 28574232
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Genotype/Phenotype Study of
    Borroto MC; Michaud C; Hudon C; Agrawal PB; Agre K; Applegate CD; Beggs AH; Bjornsson HT; Callewaert B; Chen MJ; Curry C; Devinsky O; Dudding-Byth T; Fagan K; Finnila CR; Gavrilova R; Genetti CA; Hiatt SM; Hildebrandt F; Wojcik MH; Kleefstra T; Kolvenbach CM; Korf BR; Kruszka P; Li H; Litwin J; Marcadier J; Platzer K; Blackburn PR; Reijnders MRF; Reutter H; Schanze I; Shieh JT; Stevens CA; Valivullah Z; van den Boogaard MJ; Klee EW; Campeau PM
    Genes (Basel); 2024 Aug; 15(8):. PubMed ID: 39202393
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability.
    Nguyen HH; Pham VA; Barcia G; Malan V; Nguyen KLT; Ngo DN; Nguyen TH; Landrieu P; Colleaux L; Nong VH; Nguyen LS
    Am J Med Genet A; 2018 Sep; 176(9):1981-1984. PubMed ID: 30178921
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
    Stolerman ES; Francisco E; Stallworth JL; Jones JR; Monaghan KG; Keller-Ramey J; Person R; Wentzensen IM; McWalter K; Keren B; Heron B; Nava C; Heron D; Kim K; Burton B; Al-Musafri F; O'Grady L; Sahai I; Escobar LF; Meuwissen M; Reyniers E; Kooy F; Lacassie Y; Gunay-Aygun M; Schatz KS; Hochstenbach R; Zwijnenburg PJG; Waisfisz Q; van Slegtenhorst M; Mancini GMS; Louie RJ
    Am J Med Genet A; 2019 Jul; 179(7):1276-1286. PubMed ID: 31124279
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact.
    Hervé B; Roume J; Cognard S; Fauvert D; Molina-Gomes D; Vialard F
    Eur J Med Genet; 2015; 58(6-7):346-50. PubMed ID: 25963108
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
    Wang Q; Chen P; Liu J; Lou J; Liu Y; Yuan H
    BMC Med Genomics; 2020 May; 13(1):66. PubMed ID: 32381089
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Clinical and genetic analysis of three pediatric patients with 15q24 microdeletion syndrome].
    Jing X; Zhang L; Li R; Zhang Y; Li F; Yi C; Liao C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):672-675. PubMed ID: 31302908
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
    Kashevarova AA; Nazarenko LP; Skryabin NA; Nikitina TV; Vasilyev SA; Tolmacheva EN; Lopatkina ME; Salyukova OA; Chechetkina NN; Vorotelyak EA; Kalabusheva EP; Fishman VS; Kzhyshkowska J; Graziano C; Magini P; Romeo G; Lebedev IN
    Am J Med Genet A; 2018 Nov; 176(11):2395-2403. PubMed ID: 30244536
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and molecular delineation of a 16p13.2p13.13 microduplication.
    Tassano E; Alpigiani MG; Calcagno A; Salvati P; De Miglio L; Fiorio P; Cuoco C; Gimelli G
    Eur J Med Genet; 2015 Mar; 58(3):194-8. PubMed ID: 25596524
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
    Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
    Guadagnolo D; Mastromoro G; Torres B; Marchionni E; di Palma F; Goldoni M; Cocciadiferro D; Novelli A; Bernardini L; Pizzuti A
    Genes (Basel); 2023 Nov; 14(12):. PubMed ID: 38136979
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.