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 *

249 related articles for article (PubMed ID: 29209020)

  • 1. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
    Jansen S; Hoischen A; Coe BP; Carvill GL; Van Esch H; Bosch DGM; Andersen UA; Baker C; Bauters M; Bernier RA; van Bon BW; Claahsen-van der Grinten HL; Gecz J; Gilissen C; Grillo L; Hackett A; Kleefstra T; Koolen D; Kvarnung M; Larsen MJ; Marcelis C; McKenzie F; Monin ML; Nava C; Schuurs-Hoeijmakers JH; Pfundt R; Steehouwer M; Stevens SJC; Stumpel CT; Vansenne F; Vinci M; van de Vorst M; Vries P; Witherspoon K; Veltman JA; Brunner HG; Mefford HC; Romano C; Vissers LELM; Eichler EE; de Vries BBA
    Eur J Hum Genet; 2018 Jan; 26(1):54-63. PubMed ID: 29209020
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo
    Webster E; Cho MT; Alexander N; Desai S; Naidu S; Bekheirnia MR; Lewis A; Retterer K; Juusola J; Chung WK
    Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001172. PubMed ID: 27900362
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
    Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and genetic characterization of individuals with predicted deleterious
    Craddock KE; Okur V; Wilson A; Gerkes EH; Ramsey K; Heeley JM; Juusola J; Vitobello A; Dupeyron MB; Faivre L; Chung WK
    Cold Spring Harb Mol Case Stud; 2019 Aug; 5(4):. PubMed ID: 31167805
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
    van der Donk R; Jansen S; Schuurs-Hoeijmakers JHM; Koolen DA; Goltstein LCMJ; Hoischen A; Brunner HG; Kemmeren P; Nellåker C; Vissers LELM; de Vries BBA; Hehir-Kwa JY
    Genet Med; 2019 Aug; 21(8):1719-1725. PubMed ID: 30568311
    [TBL] [Abstract][Full Text] [Related]  

  • 6.
    Kampmeier A; Leitão E; Parenti I; Beygo J; Depienne C; Bramswig NC; Hsieh TC; Afenjar A; Beck-Wödl S; Grasshoff U; Haack TB; Bijlsma EK; Ruivenkamp C; Lausberg E; Elbracht M; Haanpää MK; Koillinen H; Heinrich U; Rost I; Jamra RA; Popp D; Koch-Hogrebe M; Rostasy K; López-González V; Sanchez-Soler MJ; Macedo C; Schmetz A; Steinborn C; Weidensee S; Lesmann H; Marbach F; Caro P; Schaaf CP; Krawitz P; Wieczorek D; Kaiser FJ; Kuechler A
    Front Cell Dev Biol; 2022; 10():1020609. PubMed ID: 36726590
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
    Latypova X; Vincent M; Mollé A; Adebambo OA; Fourgeux C; Khan TN; Caro A; Rosello M; Orellana C; Niyazov D; Lederer D; Deprez M; Capri Y; Kannu P; Tabet AC; Levy J; Aten E; den Hollander N; Splitt M; Walia J; Immken LL; Stankiewicz P; McWalter K; Suchy S; Louie RJ; Bell S; Stevenson RE; Rousseau J; Willem C; Retiere C; Yang XJ; Campeau PM; Martinez F; Rosenfeld JA; Le Caignec C; Küry S; Mercier S; Moradkhani K; Conrad S; Besnard T; Cogné B; Katsanis N; Bézieau S; Poschmann J; Davis EE; Isidor B
    Am J Hum Genet; 2021 May; 108(5):929-941. PubMed ID: 33811806
    [TBL] [Abstract][Full Text] [Related]  

  • 9. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
    Scott TM; Guo H; Eichler EE; Rosenfeld JA; Pang K; Liu Z; Lalani S; Bi W; Yang Y; Bacino CA; Streff H; Lewis AM; Koenig MK; Thiffault I; Bellomo A; Everman DB; Jones JR; Stevenson RE; Bernier R; Gilissen C; Pfundt R; Hiatt SM; Cooper GM; Holder JL; Scott DA
    Hum Mutat; 2020 May; 41(5):921-925. PubMed ID: 31999386
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
    Reynhout S; Jansen S; Haesen D; van Belle S; de Munnik SA; Bongers EMHF; Schieving JH; Marcelis C; Amiel J; Rio M; Mclaughlin H; Ladda R; Sell S; Kriek M; Peeters-Scholte CMPCD; Terhal PA; van Gassen KL; Verbeek N; Henry S; Scott Schwoerer J; Malik S; Revencu N; Ferreira CR; Macnamara E; Braakman HMH; Brimble E; Ruzhnikov MRZ; Wagner M; Harrer P; Wieczorek D; Kuechler A; Tziperman B; Barel O; de Vries BBA; Gordon CT; Janssens V; Vissers LELM
    Am J Hum Genet; 2019 Jan; 104(1):139-156. PubMed ID: 30595372
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
    Redin C; Gérard B; Lauer J; Herenger Y; Muller J; Quartier A; Masurel-Paulet A; Willems M; Lesca G; El-Chehadeh S; Le Gras S; Vicaire S; Philipps M; Dumas M; Geoffroy V; Feger C; Haumesser N; Alembik Y; Barth M; Bonneau D; Colin E; Dollfus H; Doray B; Delrue MA; Drouin-Garraud V; Flori E; Fradin M; Francannet C; Goldenberg A; Lumbroso S; Mathieu-Dramard M; Martin-Coignard D; Lacombe D; Morin G; Polge A; Sukno S; Thauvin-Robinet C; Thevenon J; Doco-Fenzy M; Genevieve D; Sarda P; Edery P; Isidor B; Jost B; Olivier-Faivre L; Mandel JL; Piton A
    J Med Genet; 2014 Nov; 51(11):724-36. PubMed ID: 25167861
    [TBL] [Abstract][Full Text] [Related]  

  • 12. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
    Dias C; Estruch SB; Graham SA; McRae J; Sawiak SJ; Hurst JA; Joss SK; Holder SE; Morton JE; Turner C; Thevenon J; Mellul K; Sánchez-Andrade G; Ibarra-Soria X; Deriziotis P; Santos RF; Lee SC; Faivre L; Kleefstra T; Liu P; Hurles ME; ; Fisher SE; Logan DW
    Am J Hum Genet; 2016 Aug; 99(2):253-74. PubMed ID: 27453576
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.
    Wang J; Zhang Q; Chen Y; Yu S; Wu X; Bao X; Wen Y
    BMC Med Genet; 2018 Oct; 19(1):191. PubMed ID: 30376817
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
    Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; ; Campeau PM
    Am J Hum Genet; 2019 Jan; 104(1):164-178. PubMed ID: 30580808
    [TBL] [Abstract][Full Text] [Related]  

  • 16. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
    Radio FC; Pang K; Ciolfi A; Levy MA; Hernández-García A; Pedace L; Pantaleoni F; Liu Z; de Boer E; Jackson A; Bruselles A; McConkey H; Stellacci E; Lo Cicero S; Motta M; Carrozzo R; Dentici ML; McWalter K; Desai M; Monaghan KG; Telegrafi A; Philippe C; Vitobello A; Au M; Grand K; Sanchez-Lara PA; Baez J; Lindstrom K; Kulch P; Sebastian J; Madan-Khetarpal S; Roadhouse C; MacKenzie JJ; Monteleone B; Saunders CJ; Jean Cuevas JK; Cross L; Zhou D; Hartley T; Sawyer SL; Monteiro FP; Secches TV; Kok F; Schultz-Rogers LE; Macke EL; Morava E; Klee EW; Kemppainen J; Iascone M; Selicorni A; Tenconi R; Amor DJ; Pais L; Gallacher L; Turnpenny PD; Stals K; Ellard S; Cabet S; Lesca G; Pascal J; Steindl K; Ravid S; Weiss K; Castle AMR; Carter MT; Kalsner L; de Vries BBA; van Bon BW; Wevers MR; Pfundt R; Stegmann APA; Kerr B; Kingston HM; Chandler KE; Sheehan W; Elias AF; Shinde DN; Towne MC; Robin NH; Goodloe D; Vanderver A; Sherbini O; Bluske K; Hagelstrom RT; Zanus C; Faletra F; Musante L; Kurtz-Nelson EC; Earl RK; Anderlid BM; Morin G; van Slegtenhorst M; Diderich KEM; Brooks AS; Gribnau J; Boers RG; Finestra TR; Carter LB; Rauch A; Gasparini P; Boycott KM; Barakat TS; Graham JM; Faivre L; Banka S; Wang T; Eichler EE; Priolo M; Dallapiccola B; Vissers LELM; Sadikovic B; Scott DA; Holder JL; Tartaglia M
    Am J Hum Genet; 2021 Mar; 108(3):502-516. PubMed ID: 33596411
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
    Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
    J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pathogenic variants in
    Granadillo JL; P A Stegmann A; Guo H; Xia K; Angle B; Bontempo K; Ranells JD; Newkirk P; Costin C; Viront J; Stumpel CT; Sinnema M; Panis B; Pfundt R; Krapels IPC; Klaassens M; Nicolai J; Li J; Jiang Y; Marco E; Canton A; Latronico AC; Montenegro L; Leheup B; Bonnet C; M Amudhavalli S; Lawson CE; McWalter K; Telegrafi A; Pearson R; Kvarnung M; Wang X; Bi W; Rosenfeld JA; Shinawi M
    J Med Genet; 2020 Oct; 57(10):717-724. PubMed ID: 32152250
    [TBL] [Abstract][Full Text] [Related]  

  • 19. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
    Jansen S; van der Werf IM; Innes AM; Afenjar A; Agrawal PB; Anderson IJ; Atwal PS; van Binsbergen E; van den Boogaard MJ; Castiglia L; Coban-Akdemir ZH; van Dijck A; Doummar D; van Eerde AM; van Essen AJ; van Gassen KL; Guillen Sacoto MJ; van Haelst MM; Iossifov I; Jackson JL; Judd E; Kaiwar C; Keren B; Klee EW; Klein Wassink-Ruiter JS; Meuwissen ME; Monaghan KG; de Munnik SA; Nava C; Ockeloen CW; Pettinato R; Racher H; Rinne T; Romano C; Sanders VR; Schnur RE; Smeets EJ; Stegmann APA; Stray-Pedersen A; Sweetser DA; Terhal PA; Tveten K; VanNoy GE; de Vries PF; Waxler JL; Willing M; Pfundt R; Veltman JA; Kooy RF; Vissers LELM; de Vries BBA
    Eur J Hum Genet; 2019 May; 27(5):738-746. PubMed ID: 30679813
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
    Shchubelka K; Turova L; Wolfsberger W; Kalanquin K; Williston K; Kurutsa O; Makovetska A; Hasynets Y; Mirutenko V; Vakerych M; Oleksyk TK
    J Neurodev Disord; 2024 Mar; 16(1):13. PubMed ID: 38539105
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.