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 *

121 related articles for article (PubMed ID: 35433545)

  • 1. Refining the Phenotypic Spectrum of
    Eliyahu A; Barel O; Greenbaum L; Zaks Hoffer G; Goldberg Y; Raas-Rothschild A; Singer A; Bar-Joseph I; Kunik V; Javasky E; Staretz-Chacham O; Pode-Shakked N; Bazak L; Ruhrman-Shahar N; Pras E; Frydman M; Shohat M; Pode-Shakked B
    Front Pediatr; 2022; 10():844845. PubMed ID: 35433545
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
    Faundes V; Newman WG; Bernardini L; Canham N; Clayton-Smith J; Dallapiccola B; Davies SJ; Demos MK; Goldman A; Gill H; Horton R; Kerr B; Kumar D; Lehman A; McKee S; Morton J; Parker MJ; Rankin J; Robertson L; Temple IK; ; ; Banka S
    Am J Hum Genet; 2018 Jan; 102(1):175-187. PubMed ID: 29276005
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis.
    Chen G; Han L; Tan S; Jia X; Wu H; Quan Y; Zhang Q; Yu B; Hu Z; Xia K; Guo H
    J Genet Genomics; 2022 Sep; 49(9):881-890. PubMed ID: 35331928
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel
    Tong J; Chen X; Wang X; Men S; Liu Y; Sun X; Yan D; Wang L
    Heliyon; 2024 Apr; 10(7):e28686. PubMed ID: 38571636
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
    Schäfgen J; Cremer K; Becker J; Wieland T; Zink AM; Kim S; Windheuser IC; Kreiß M; Aretz S; Strom TM; Wieczorek D; Engels H
    Eur J Hum Genet; 2016 Dec; 24(12):1739-1745. PubMed ID: 27436265
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
    Sheppard SE; Bryant L; Wickramasekara RN; Vaccaro C; Robertson B; Hallgren J; Hulen J; Watson CJ; Faundes V; Duffourd Y; Lee P; Simon MC; de la Cruz X; Padilla N; Flores-Mendez M; Akizu N; Smiler J; Pellegrino Da Silva R; Li D; March M; Diaz-Rosado A; Peixoto de Barcelos I; Choa ZX; Lim CY; Dubourg C; Journel H; Demurger F; Mulhern M; Akman C; Lippa N; Andrews M; Baldridge D; Constantino J; van Haeringen A; Snoeck-Streef I; Chow P; Hing A; Graham JM; Au M; Faivre L; Shen W; Mao R; Palumbos J; Viskochil D; Gahl W; Tifft C; Macnamara E; Hauser N; Miller R; Maffeo J; Afenjar A; Doummar D; Keren B; Arn P; Macklin-Mantia S; Meerschaut I; Callewaert B; Reis A; Zweier C; Brewer C; Saggar A; Smeland MF; Kumar A; Elmslie F; Deshpande C; Nizon M; Cogne B; van Ierland Y; Wilke M; van Slegtenhorst M; Koudijs S; Chen JY; Dredge D; Pier D; Wortmann S; Kamsteeg EJ; Koch J; Haynes D; Pollack L; Titheradge H; Ranguin K; Denommé-Pichon AS; Weber S; Pérez de la Fuente R; Sánchez Del Pozo J; Lezana Rosales JM; Joset P; Steindl K; Rauch A; Mei D; Mari F; Guerrini R; Lespinasse J; Tran Mau-Them F; Philippe C; Dauriat B; Raymond L; Moutton S; Cueto-González AM; Tan TY; Mignot C; Grotto S; Renaldo F; Drivas TG; Hennessy L; Raper A; Parenti I; Kaiser FJ; Kuechler A; Busk ØL; Islam L; Siedlik JA; Henderson LB; Juusola J; Person R; Schnur RE; Vitobello A; Banka S; Bhoj EJ; Stessman HAF
    Sci Adv; 2023 Mar; 9(10):eade1463. PubMed ID: 36897941
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
    Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
    Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis.
    Ćuk M; Lovrenčić L; Unal B; Walker M; Hayes CP; Krakar G; Beluzić R; Sansović I; Pavliša G; Ghazani AA
    Am J Case Rep; 2024 Jul; 25():e943641. PubMed ID: 38995884
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
    Trinh J; Kandaswamy KK; Werber M; Weiss MER; Oprea G; Kishore S; Lohmann K; Rolfs A
    J Neurodev Disord; 2019 Jun; 11(1):11. PubMed ID: 31238879
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
    von der Lippe C; Tveten K; Prescott TE; Holla ØL; Busk ØL; Burke KB; Sansbury FH; Baptista J; Fry AE; Lim D; Jolles S; Evans J; Osio D; Macmillan C; Bruno I; Faletra F; Climent S; Urreitzi R; Hoenicka J; Palau F; Cohen ASA; Engleman K; Zhou D; Amudhavalli SM; Jeanne M; Bonnet-Brilhault F; Lévy J; Drunat S; Derive N; Haug MG; Thorstensen WM
    Am J Med Genet A; 2022 Jan; 188(1):272-282. PubMed ID: 34515416
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
    Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
    Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
    Shang L; Henderson LB; Cho MT; Petrey DS; Fong CT; Haude KM; Shur N; Lundberg J; Hauser N; Carmichael J; Innis J; Schuette J; Wu YW; Asaikar S; Pearson M; Folk L; Retterer K; Monaghan KG; Chung WK
    Neurogenetics; 2016 Jan; 17(1):43-9. PubMed ID: 26576547
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Vulto-van Silfhout-de Vries syndrome caused by
    Zhu H; Zhu S; Jiang Q; Pang Y; Huang Y; Chen Y; Hou T; Deng W; Liu X; Zeng L; Chen A; Wang J; Luo Z
    Front Neurol; 2023; 14():1251467. PubMed ID: 38073621
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report.
    Odak L; Vulin K; Meašić AM; Šamadan L; Tripalo Batoš A
    Croat Med J; 2023 Oct; 64(5):334-338. PubMed ID: 37927187
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
    Usmani MA; Ahmed ZM; Magini P; Pienkowski VM; Rasmussen KJ; Hernan R; Rasheed F; Hussain M; Shahzad M; Lanpher BC; Niu Z; Lim FY; Pippucci T; Ploski R; Kraus V; Matuszewska K; Palombo F; Kianmahd J; ; Martinez-Agosto JA; Lee H; Colao E; Motazacker MM; Brigatti KW; Puffenberger EG; Riazuddin SA; Gonzaga-Jauregui C; Chung WK; Wagner M; Schultz MJ; Seri M; Kievit AJA; Perrotti N; Wassink-Ruiter JSK; van Bokhoven H; Riazuddin S; Riazuddin S
    Am J Hum Genet; 2021 Jul; 108(7):1330-1341. PubMed ID: 34102099
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Differential effects by sex with Kmt5b loss.
    Wickramasekara RN; Robertson B; Hulen J; Hallgren J; Stessman HAF
    Autism Res; 2021 Aug; 14(8):1554-1571. PubMed ID: 33871180
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
    Berko ER; Cho MT; Eng C; Shao Y; Sweetser DA; Waxler J; Robin NH; Brewer F; Donkervoort S; Mohassel P; Bönnemann CG; Bialer M; Moore C; Wolfe LA; Tifft CJ; Shen Y; Retterer K; Millan F; Chung WK
    J Med Genet; 2017 Feb; 54(2):84-86. PubMed ID: 27389779
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.