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 *

165 related articles for article (PubMed ID: 36833176)

  • 21. 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]  

  • 22. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
    Chilton I; Okur V; Vitiello G; Selicorni A; Mariani M; Goldenberg A; Husson T; Campion D; Lichtenbelt KD; van Gassen K; Steinraths M; Rice J; Roeder ER; Littlejohn RO; Srour M; Sebire G; Accogli A; Héron D; Heide S; Nava C; Depienne C; Larson A; Niyazov D; Azage M; Hoganson G; Burton J; Rush ET; Jenkins JL; Saunders CJ; Thiffault I; Alaimo JT; Fleischer J; Groepper D; Gripp KW; Chung WK
    Am J Med Genet A; 2020 May; 182(5):962-973. PubMed ID: 32031333
    [TBL] [Abstract][Full Text] [Related]  

  • 23. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
    Okur V; Cho MT; Henderson L; Retterer K; Schneider M; Sattler S; Niyazov D; Azage M; Smith S; Picker J; Lincoln S; Tarnopolsky M; Brady L; Bjornsson HT; Applegate C; Dameron A; Willaert R; Baskin B; Juusola J; Chung WK
    Hum Genet; 2016 Jul; 135(7):699-705. PubMed ID: 27048600
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. 6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.
    Ohashi I; Kuroda Y; Enomoto Y; Murakami H; Masuno M; Kurosawa K
    Clin Dysmorphol; 2021 Jul; 30(3):139-141. PubMed ID: 33758130
    [No Abstract]   [Full Text] [Related]  

  • 27. In mammalian skeletal muscle, phosphorylation of TOMM22 by protein kinase CSNK2/CK2 controls mitophagy.
    Kravic B; Harbauer AB; Romanello V; Simeone L; Vögtle FN; Kaiser T; Straubinger M; Huraskin D; Böttcher M; Cerqua C; Martin ED; Poveda-Huertes D; Buttgereit A; Rabalski AJ; Heuss D; Rudolf R; Friedrich O; Litchfield D; Marber M; Salviati L; Mougiakakos D; Neuhuber W; Sandri M; Meisinger C; Hashemolhosseini S
    Autophagy; 2018; 14(2):311-335. PubMed ID: 29165030
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The
    Dawidziuk M; Kutkowska-Kaźmierczak A; Gawliński P; Wiszniewski W; Gos M; Stawiński P; Rydzanicz M; Kosińska J; Własienko P; Malinowska Kordowska O; Bartnik-Głaska M; Bernaciak J; Szczałuba K; Bekiesińska-Figatowska M; Płoski R; Bal J; Olimpia Rzońca-Niewczas S
    J Mother Child; 2021 Apr; 24(3):32-36. PubMed ID: 33930262
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
    Yi Z; Zhang Y; Song Z; Pan H; Yang C; Li F; Xue J; Qu Z
    Ital J Pediatr; 2020 Jul; 46(1):95. PubMed ID: 32646507
    [TBL] [Abstract][Full Text] [Related]  

  • 31. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
    Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
    Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
    BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of novel
    Wu RH; Tang WT; Qiu KY; Li XJ; Tang DX; Meng Z; He ZW
    J Int Med Res; 2021 May; 49(5):3000605211017063. PubMed ID: 34038195
    [No Abstract]   [Full Text] [Related]  

  • 34. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
    Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S
    Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. CDK13-related disorder.
    Hamilton MJ; Suri M
    Adv Genet; 2019; 103():163-182. PubMed ID: 30904094
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
    Chopra M; McEntagart M; Clayton-Smith J; Platzer K; Shukla A; Girisha KM; Kaur A; Kaur P; Pfundt R; Veenstra-Knol H; Mancini GMS; Cappuccio G; Brunetti-Pierri N; Kortüm F; Hempel M; Denecke J; Lehman A; ; Kleefstra T; Stuurman KE; Wilke M; Thompson ML; Bebin EM; Bijlsma EK; Hoffer MJV; Peeters-Scholte C; Slavotinek A; Weiss WA; Yip T; Hodoglugil U; Whittle A; diMonda J; Neira J; Yang S; Kirby A; Pinz H; Lechner R; Sleutels F; Helbig I; McKeown S; Helbig K; Willaert R; Juusola J; Semotok J; Hadonou M; Short J; ; Yachelevich N; Lala S; Fernández-Jaen A; Pelayo JP; Klöckner C; Kamphausen SB; Abou Jamra R; Arelin M; Innes AM; Niskakoski A; Amin S; Williams M; Evans J; Smithson S; Smedley D; de Burca A; Kini U; Delatycki MB; Gallacher L; Yeung A; Pais L; Field M; Martin E; Charles P; Courtin T; Keren B; Iascone M; Cereda A; Poke G; Abadie V; Chalouhi C; Parthasarathy P; Halliday BJ; Robertson SP; Lyonnet S; Amiel J; Gordon CT
    Am J Hum Genet; 2021 Jun; 108(6):1138-1150. PubMed ID: 33909992
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
    Gregor A; Sadleir LG; Asadollahi R; Azzarello-Burri S; Battaglia A; Ousager LB; Boonsawat P; Bruel AL; Buchert R; Calpena E; Cogné B; Dallapiccola B; Distelmaier F; Elmslie F; Faivre L; Haack TB; Harrison V; Henderson A; Hunt D; Isidor B; Joset P; Kumada S; Lachmeijer AMA; Lees M; Lynch SA; Martinez F; Matsumoto N; McDougall C; Mefford HC; Miyake N; Myers CT; Moutton S; Nesbitt A; Novelli A; Orellana C; Rauch A; Rosello M; Saida K; Santani AB; Sarkar A; Scheffer IE; Shinawi M; Steindl K; Symonds JD; Zackai EH; ; ; Reis A; Sticht H; Zweier C
    Am J Hum Genet; 2018 Aug; 103(2):305-316. PubMed ID: 30057029
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
    Barøy T; Misceo D; Strømme P; Stray-Pedersen A; Holmgren A; Rødningen OK; Blomhoff A; Helle JR; Stormyr A; Tvedt B; Fannemel M; Frengen E
    Orphanet J Rare Dis; 2013 Jan; 8():3. PubMed ID: 23294540
    [TBL] [Abstract][Full Text] [Related]  

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