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 *

169 related articles for article (PubMed ID: 36589751)

  • 21. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
    Vos N; Haghshenas S; van der Laan L; Russel PKM; Rooney K; Levy MA; Relator R; Kerkhof J; McConkey H; Maas SM; Vissers LELM; de Vries BBA; Pfundt R; Elting MW; van Hagen JM; Verbeek NE; Jongmans MCJ; Lakeman P; Rumping L; Bosch DGM; Vitobello A; Thauvin-Robinet C; Faivre L; Nambot S; Garde A; Willems M; Genevieve D; Nicolas G; Busa T; Toutain A; Gérard M; Bizaoui V; Isidor B; Merla G; Accadia M; Schwartz CE; Ounap K; Hoffer MJV; Nezarati MM; van den Boogaard MH; Tedder ML; Rogers C; Brusco A; Ferrero GB; Spodenkiewicz M; Sidlow R; Mussa A; Trajkova S; McCann E; Mroczkowski HJ; Jansen S; Donker-Kaat L; Duijkers FAM; Stuurman KE; Mannens MMAM; Alders M; Henneman P; White SM; Sadikovic B; van Haelst MM
    Hum Genet; 2024 Jun; 143(6):761-773. PubMed ID: 38787418
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder.
    White-Brown A; Choufani S; ; Weksberg R; Dyment D
    Am J Med Genet A; 2023 Oct; 191(10):2640-2646. PubMed ID: 37340855
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
    LaFlamme CW; Rastin C; Sengupta S; Pennington HE; Russ-Hall SJ; Schneider AL; Bonkowski ES; Almanza Fuerte EP; Galey M; Goffena J; Gibson SB; Allan TJ; Nyaga DM; Lieffering N; Hebbar M; Walker EV; Darnell D; Olsen SR; Kolekar P; Djekidel N; Rosikiewicz W; McConkey H; Kerkhof J; Levy MA; Relator R; Lev D; Lerman-Sagie T; Park KL; Alders M; Cappuccio G; Chatron N; Demain L; Genevieve D; Lesca G; Roscioli T; Sanlaville D; Tedder ML; Hubshman MW; Ketkar S; Dai H; Worley KC; Rosenfeld JA; Chao HT; ; Neale G; Carvill GL; ; Wang Z; Berkovic SF; Sadleir LG; Miller DE; Scheffer IE; Sadikovic B; Mefford HC
    medRxiv; 2023 Oct; ():. PubMed ID: 37873138
    [TBL] [Abstract][Full Text] [Related]  

  • 24. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
    Zollino M; Murdolo M; Marangi G; Pecile V; Galasso C; Mazzanti L; Neri G
    Am J Med Genet C Semin Med Genet; 2008 Nov; 148C(4):257-69. PubMed ID: 18932124
    [TBL] [Abstract][Full Text] [Related]  

  • 25. DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
    Trajkova S; Kerkhof J; Rossi Sebastiano M; Pavinato L; Ferrero E; Giovenino C; Carli D; Di Gregorio E; Marinoni R; Mandrile G; Palermo F; Carestiato S; Cardaropoli S; Pullano V; Rinninella A; Giorgio E; Pippucci T; Dimartino P; Rzasa J; Rooney K; McConkey H; Petlichkovski A; Pasini B; Sukarova-Angelovska E; Campbell CM; Metcalfe K; Jenkinson S; Banka S; Mussa A; Ferrero GB; Sadikovic B; Brusco A
    HGG Adv; 2024 Jul; 5(3):100309. PubMed ID: 38751117
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
    Aref-Eshghi E; Kerkhof J; Pedro VP; ; Barat-Houari M; Ruiz-Pallares N; Andrau JC; Lacombe D; Van-Gils J; Fergelot P; Dubourg C; Cormier-Daire V; Rondeau S; Lecoquierre F; Saugier-Veber P; Nicolas G; Lesca G; Chatron N; Sanlaville D; Vitobello A; Faivre L; Thauvin-Robinet C; Laumonnier F; Raynaud M; Alders M; Mannens M; Henneman P; Hennekam RC; Velasco G; Francastel C; Ulveling D; Ciolfi A; Pizzi S; Tartaglia M; Heide S; Héron D; Mignot C; Keren B; Whalen S; Afenjar A; Bienvenu T; Campeau PM; Rousseau J; Levy MA; Brick L; Kozenko M; Balci TB; Siu VM; Stuart A; Kadour M; Masters J; Takano K; Kleefstra T; de Leeuw N; Field M; Shaw M; Gecz J; Ainsworth PJ; Lin H; Rodenhiser DI; Friez MJ; Tedder M; Lee JA; DuPont BR; Stevenson RE; Skinner SA; Schwartz CE; Genevieve D; Sadikovic B
    Am J Hum Genet; 2020 Mar; 106(3):356-370. PubMed ID: 32109418
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
    Sarli C; van der Laan L; Reilly J; Trajkova S; Carli D; Brusco A; Levy MA; Relator R; Kerkhof J; McConkey H; Tedder ML; Skinner C; Alders M; Henneman P; Hennekam RCM; Ciaccio C; D'Arrigo S; Vitobello A; Faivre L; Weber S; Vincent-Devulder A; Perrin L; Bourgois A; Yamamoto T; Metcalfe K; Zollino M; Kini U; Oliveira D; Sousa SB; Williams D; Cappuccio G; Sadikovic B; Brunetti-Pierri N
    Am J Med Genet C Semin Med Genet; 2024 Dec; 196(4):e32089. PubMed ID: 38884529
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.
    Callaway DA; Campbell IM; Stover SR; Hernandez-Garcia A; Jhangiani SN; Punetha J; Paine IS; Posey JE; Muzny D; Lally KP; Lupski JR; Shaw CA; Fernandes CJ; Scott DA
    J Pediatr Genet; 2018 Dec; 7(4):164-173. PubMed ID: 30430034
    [TBL] [Abstract][Full Text] [Related]  

  • 29. De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.
    Lozier ER; Konovalov FA; Kanivets IV; Pyankov DV; Koshkin PA; Baleva LS; Sipyagina AE; Yakusheva EN; Kuchina AE; Korostelev SA
    J Hum Genet; 2018 Jul; 63(8):919-922. PubMed ID: 29760529
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
    Kerkhof J; Rastin C; Levy MA; Relator R; McConkey H; Demain L; Dominguez-Garrido E; Kaat LD; Houge SD; DuPont BR; Fee T; Fletcher RS; Gokhale D; Haukanes BI; Henneman P; Hilton S; Hilton BA; Jenkinson S; Lee JA; Louie RJ; Motazacker MM; Rzasa J; Stevenson RE; Plomp A; van der Laan L; van der Smagt J; Walden KK; Banka S; Mannens M; Skinner SA; Friez MJ; Campbell C; Tedder ML; Alders M; Sadikovic B
    Genet Med; 2024 May; 26(5):101075. PubMed ID: 38251460
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Episignature Mapping of
    van der Laan L; Rooney K; Alders M; Relator R; McConkey H; Kerkhof J; Levy MA; Lauffer P; Aerden M; Theunis M; Legius E; Tedder ML; Vissers LELM; Koene S; Ruivenkamp C; Hoffer MJV; Wieczorek D; Bramswig NC; Herget T; González VL; Santos-Simarro F; Tørring PM; Denomme-Pichon AS; Isidor B; Keren B; Julia S; Schaefer E; Francannet C; Maillard PY; Misra-Isrie M; Van Esch H; Mannens MMAM; Sadikovic B; van Haelst MM; Henneman P
    Int J Mol Sci; 2022 Nov; 23(22):. PubMed ID: 36430143
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
    Bi W; Cheung SW; Breman AM; Bacino CA
    Am J Med Genet A; 2016 Oct; 170(10):2540-50. PubMed ID: 27287194
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
    Rooney K; Levy MA; Haghshenas S; Kerkhof J; Rogaia D; Tedesco MG; Imperatore V; Mencarelli A; Squeo GM; Di Venere E; Di Cara G; Verrotti A; Merla G; Tedder ML; DuPont BR; Sadikovic B; Prontera P
    Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445317
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization.
    Yang WX; Pan H; Li L; Wu HR; Wang ST; Bao XH; Jiang YW; Qi Y
    Chin Med J (Engl); 2016 Mar; 129(6):672-8. PubMed ID: 26960370
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.
    Hannes F; Drozniewska M; Vermeesch JR; Haus O
    Eur J Med Genet; 2010; 53(3):136-40. PubMed ID: 20197130
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.
    Battaglia A; Carey JC
    Am J Med Genet A; 2021 Sep; 185(9):2748-2755. PubMed ID: 34002939
    [TBL] [Abstract][Full Text] [Related]  

  • 37. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with
    Vos N; Reilly J; Elting MW; Campeau PM; Coman D; Stark Z; Tan TY; Amor DJ; Kaur S; StJohn M; Morgan AT; Kamien BA; Patel C; Tedder ML; Merla G; Prontera P; Castori M; Muru K; Collins F; Christodoulou J; Smith J; Zeev BB; Murgia A; Leonardi E; Esber N; Martinez-Monseny A; Casas-Alba D; Wallis M; Mannens M; Levy MA; Relator R; Alders M; Sadikovic B
    Epigenomics; 2023 Mar; 15(6):351-367. PubMed ID: 37249002
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.
    Estabrooks LL; Rao KW; Korf B
    Am J Med Genet; 1993 Jan; 45(1):97-100. PubMed ID: 8418669
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome.
    Gandelman KY; Gibson L; Meyn MS; Yang-Feng TL
    Am J Hum Genet; 1992 Sep; 51(3):571-8. PubMed ID: 1379774
    [TBL] [Abstract][Full Text] [Related]  

  • 40. DNA Methylation Signature for
    Verberne EA; van der Laan L; Haghshenas S; Rooney K; Levy MA; Alders M; Maas SM; Jansen S; Lieden A; Anderlid BM; Rafael-Croes L; Campeau PM; Chaudhry A; Koolen DA; Pfundt R; Hurst ACE; Tran-Mau-Them F; Bruel AL; Lambert L; Isidor B; Mannens MMAM; Sadikovic B; Henneman P; van Haelst MM
    Int J Mol Sci; 2022 Jul; 23(14):. PubMed ID: 35887345
    [No Abstract]   [Full Text] [Related]  

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