BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

260 related articles for article (PubMed ID: 32409512)

  • 1.
    Lehalle D; Vabres P; Sorlin A; Bierhals T; Avila M; Carmignac V; Chevarin M; Torti E; Abe Y; Bartolomaeus T; Clayton-Smith J; Cogné B; Cusco I; Duplomb L; De Bont E; Duffourd Y; Duijkers F; Elpeleg O; Fattal A; Geneviève D; Guillen Sacoto MJ; Guimier A; Harris DJ; Hempel M; Isidor B; Jouan T; Kuentz P; Koshimizu E; Lichtenbelt K; Loik Ramey V; Maik M; Miyakate S; Murakami Y; Pasquier L; Pedro H; Simone L; Sondergaard-Schatz K; St-Onge J; Thevenon J; Valenzuela I; Abou Jamra R; van Gassen K; van Haelst MM; van Koningsbruggen S; Verdura E; Whelan Habela C; Zacher P; Rivière JB; Thauvin-Robinet C; Betschinger J; Faivre L
    J Med Genet; 2020 Dec; 57(12):808-819. PubMed ID: 32409512
    [TBL] [Abstract][Full Text] [Related]  

  • 2. TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.
    Diaz J; Berger S; Leon E
    Am J Med Genet A; 2020 Mar; 182(3):584-590. PubMed ID: 31833172
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
    Barrie ES; Cottrell CE; Gastier-Foster J; Hickey SE; Patel AD; Santoro SL; Alfaro MP
    Eur J Med Genet; 2020 Mar; 63(3):103735. PubMed ID: 31415821
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
    Handoko M; Emrick LT; Rosenfeld JA; Wang X; Tran AA; Turner A; Belmont JW; ; Lee BH; Bacino CA; Chao HT
    Am J Med Genet A; 2019 Mar; 179(3):475-479. PubMed ID: 30569621
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
    Nicola P; Blackburn PR; Rasmussen KJ; Bertsch NL; Klee EW; Hasadsri L; Pichurin PN; Rankin J; Raymond FL; ; Clayton-Smith J
    Am J Med Genet A; 2019 Apr; 179(4):570-578. PubMed ID: 30734472
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
    Palmer EE; Stuhlmann T; Weinert S; Haan E; Van Esch H; Holvoet M; Boyle J; Leffler M; Raynaud M; Moraine C; van Bokhoven H; Kleefstra T; Kahrizi K; Najmabadi H; Ropers HH; Delgado MR; Sirsi D; Golla S; Sommer A; Pietryga MP; Chung WK; Wynn J; Rohena L; Bernardo E; Hamlin D; Faux BM; Grange DK; Manwaring L; Tolmie J; Joss S; ; Cobben JM; Duijkers FAM; Goehringer JM; Challman TD; Hennig F; Fischer U; Grimme A; Suckow V; Musante L; Nicholl J; Shaw M; Lodh SP; Niu Z; Rosenfeld JA; Stankiewicz P; Jentsch TJ; Gecz J; Field M; Kalscheuer VM
    Mol Psychiatry; 2018 Feb; 23(2):222-230. PubMed ID: 27550844
    [TBL] [Abstract][Full Text] [Related]  

  • 8.
    Lehalle D; Mosca-Boidron AL; Begtrup A; Boute-Benejean O; Charles P; Cho MT; Clarkson A; Devinsky O; Duffourd Y; Duplomb-Jego L; Gérard B; Jacquette A; Kuentz P; Masurel-Paulet A; McDougall C; Moutton S; Olivié H; Park SM; Rauch A; Revencu N; Rivière JB; Rubin K; Simonic I; Shears DJ; Smol T; Taylor Tavares AL; Terhal P; Thevenon J; Van Gassen K; Vincent-Delorme C; Willemsen MH; Wilson GN; Zackai E; Zweier C; Callier P; Thauvin-Robinet C; Faivre L
    J Med Genet; 2017 Jul; 54(7):479-488. PubMed ID: 28119487
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Monogenic causes of pigmentary mosaicism.
    Saida K; Chong PF; Yamaguchi A; Saito N; Ikehara H; Koshimizu E; Miyata R; Ishiko A; Nakamura K; Ohnishi H; Fujioka K; Sakakibara T; Asada H; Ogawa K; Kudo K; Ohashi E; Kawai M; Abe Y; Tsuchida N; Uchiyama Y; Hamanaka K; Fujita A; Mizuguchi T; Miyatake S; Miyake N; Kato M; Kira R; Matsumoto N
    Hum Genet; 2022 Nov; 141(11):1771-1784. PubMed ID: 35503477
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.
    Bourque DK; Hartley T; Nikkel SM; Pohl D; Tétreault M; Kernohan KD; ; Dyment DA
    Eur J Med Genet; 2018 Feb; 61(2):89-93. PubMed ID: 29066376
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
    Ewans LJ; Field M; Zhu Y; Turner G; Leffler M; Dinger ME; Cowley MJ; Buckley MF; Scheffer IE; Jackson MR; Roscioli T; Shoubridge C
    Eur J Hum Genet; 2017 Jun; 25(6):763-767. PubMed ID: 28295038
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
    de Lange IM; Helbig KL; Weckhuysen S; Møller RS; Velinov M; Dolzhanskaya N; Marsh E; Helbig I; Devinsky O; Tang S; Mefford HC; Myers CT; van Paesschen W; Striano P; van Gassen K; van Kempen M; de Kovel CG; Piard J; Minassian BA; Nezarati MM; Pessoa A; Jacquette A; Maher B; Balestrini S; Sisodiya S; Warde MT; De St Martin A; Chelly J; ; van 't Slot R; Van Maldergem L; Brilstra EH; Koeleman BP
    J Med Genet; 2016 Dec; 53(12):850-858. PubMed ID: 27358180
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
    Hay E; Henderson RH; Mansour S; Deshpande C; Jones R; Nutan S; Mankad K; Young RM; Moosajee M; Research Consortium GE; Arno G
    Clin Genet; 2020 Aug; 98(2):191-197. PubMed ID: 32530092
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
    Fritzen D; Kuechler A; Grimmel M; Becker J; Peters S; Sturm M; Hundertmark H; Schmidt A; Kreiß M; Strom TM; Wieczorek D; Haack TB; Beck-Wödl S; Cremer K; Engels H
    Hum Genet; 2018 May; 137(5):401-411. PubMed ID: 29796876
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
    Harms FL; Girisha KM; Hardigan AA; Kortüm F; Shukla A; Alawi M; Dalal A; Brady L; Tarnopolsky M; Bird LM; Ceulemans S; Bebin M; Bowling KM; Hiatt SM; Lose EJ; Primiano M; Chung WK; Juusola J; Akdemir ZC; Bainbridge M; Charng WL; Drummond-Borg M; Eldomery MK; El-Hattab AW; Saleh MAM; Bézieau S; Cogné B; Isidor B; Küry S; Lupski JR; Myers RM; Cooper GM; Kutsche K
    Am J Hum Genet; 2017 Jan; 100(1):117-127. PubMed ID: 28017373
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
    Jansen S; Kleefstra T; Willemsen MH; de Vries P; Pfundt R; Hehir-Kwa JY; Gilissen C; Veltman JA; de Vries BB; Vissers LE
    Clin Genet; 2016 Nov; 90(5):413-419. PubMed ID: 26752331
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
    Carmignac V; Nambot S; Lehalle D; Callier P; Moortgat S; Benoit V; Ghoumid J; Delobel B; Smol T; Thuillier C; Zordan C; Naudion S; Bienvenu T; Touraine R; Ramond F; Zweier C; Reis A; Kraus C; Nizon M; Cogné B; Verloes A; Tran Mau-Them F; Sorlin A; Jouan T; Duffourd Y; Tisserant E; Philippe C; Vitobello A; Thevenon J; Faivre L; Thauvin-Robinet C
    Clin Genet; 2020 Jul; 98(1):43-55. PubMed ID: 32279304
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
    Polla DL; Bhoj EJ; Verheij JBGM; Wassink-Ruiter JSK; Reis A; Deshpande C; Gregor A; Hill-Karfe K; Silfhout ATV; Pfundt R; Bongers EMHF; Hakonarson H; Berland S; Gradek G; Banka S; Chandler K; Gompertz L; Huffels SC; Stumpel CTRM; Wennekes R; Stegmann APA; Reardon W; Leenders EKSM; de Vries BBA; Li D; Zackai E; Ragge N; Lynch SA; Cuddapah S; van Bokhoven H; Zweier C; de Brouwer APM
    Genet Med; 2021 Apr; 23(4):645-652. PubMed ID: 33244165
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SCAF4-related syndromic intellectual disability.
    Carvalho LML; Pinto CF; de Oliveira Scliar M; Otto PA; Krepischi ACV; Rosenberg C
    Am J Med Genet A; 2023 Feb; 191(2):570-574. PubMed ID: 36333968
    [TBL] [Abstract][Full Text] [Related]  

  • 20. HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
    Reichert SC; Li R; A Turner S; van Jaarsveld RH; Massink MPG; van den Boogaard MH; Del Toro M; Rodríguez-Palmero A; Fourcade S; Schlüter A; Planas-Serra L; Pujol A; Iascone M; Maitz S; Loong L; Stewart H; De Franco E; Ellard S; Frank J; Lewandowski R
    Clin Genet; 2020 Jul; 98(1):91-98. PubMed ID: 32335897
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.