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 *

139 related articles for article (PubMed ID: 37945024)

  • 21. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
    Marafi D; Mitani T; Isikay S; Hertecant J; Almannai M; Manickam K; Abou Jamra R; El-Hattab AW; Rajah J; Fatih JM; Du H; Karaca E; Bayram Y; Punetha J; Rosenfeld JA; Jhangiani SN; Boerwinkle E; Akdemir ZC; Erdin S; Hunter JV; Gibbs RA; Pehlivan D; Posey JE; Lupski JR
    Ann Clin Transl Neurol; 2020 May; 7(5):610-627. PubMed ID: 32286009
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
    Hunt D; Leventer RJ; Simons C; Taft R; Swoboda KJ; Gawne-Cain M; ; Magee AC; Turnpenny PD; Baralle D
    J Med Genet; 2014 Dec; 51(12):806-13. PubMed ID: 25342064
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
    Kreienkamp HJ; Wagner M; Weigand H; McConkie-Rossell A; McDonald M; Keren B; Mignot C; Gauthier J; Soucy JF; Michaud JL; Dumas M; Smith R; Löbel U; Hempel M; Kubisch C; Denecke J; Campeau PM; Bain JM; Lessel D
    Hum Genet; 2022 Feb; 141(2):257-272. PubMed ID: 34907471
    [TBL] [Abstract][Full Text] [Related]  

  • 24. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
    Brunet T; Jech R; Brugger M; Kovacs R; Alhaddad B; Leszinski G; Riedhammer KM; Westphal DS; Mahle I; Mayerhanser K; Skorvanek M; Weber S; Graf E; Berutti R; Necpál J; Havránková P; Pavelekova P; Hempel M; Kotzaeridou U; Hoffmann GF; Leiz S; Makowski C; Roser T; Schroeder SA; Steinfeld R; Strobl-Wildemann G; Hoefele J; Borggraefe I; Distelmaier F; Strom TM; Winkelmann J; Meitinger T; Zech M; Wagner M
    Clin Genet; 2021 Jul; 100(1):14-28. PubMed ID: 33619735
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.
    Choi SA; Lee HS; Park TJ; Park S; Ko YJ; Kim SY; Lim BC; Kim KJ; Chae JH
    Brain Dev; 2021 Oct; 43(9):912-918. PubMed ID: 34116881
    [TBL] [Abstract][Full Text] [Related]  

  • 27. HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.
    Wang Y; Zheng X; Feng C; Fan X; Liu L; Guo P; Lei Z; Mei S
    Mol Genet Genomic Med; 2022 Oct; 10(10):e2025. PubMed ID: 35985664
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Correlation of early neurodevelopmental features of children with SYNGAP1 variants and their genotypes].
    Liu H; Yang S; Li J; Xie H; Chen X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jan; 41(1):25-31. PubMed ID: 38171555
    [TBL] [Abstract][Full Text] [Related]  

  • 29. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
    Konrad EDH; Nardini N; Caliebe A; Nagel I; Young D; Horvath G; Santoro SL; Shuss C; Ziegler A; Bonneau D; Kempers M; Pfundt R; Legius E; Bouman A; Stuurman KE; Õunap K; Pajusalu S; Wojcik MH; Vasileiou G; Le Guyader G; Schnelle HM; Berland S; Zonneveld-Huijssoon E; Kersten S; Gupta A; Blackburn PR; Ellingson MS; Ferber MJ; Dhamija R; Klee EW; McEntagart M; Lichtenbelt KD; Kenney A; Vergano SA; Abou Jamra R; Platzer K; Ella Pierpont M; Khattar D; Hopkin RJ; Martin RJ; Jongmans MCJ; Chang VY; Martinez-Agosto JA; Kuismin O; Kurki MI; Pietiläinen O; Palotie A; Maarup TJ; Johnson DS; Venborg Pedersen K; Laulund LW; Lynch SA; Blyth M; Prescott K; Canham N; Ibitoye R; Brilstra EH; Shinawi M; Fassi E; ; Sticht H; Gregor A; Van Esch H; Zweier C
    Genet Med; 2019 Dec; 21(12):2723-2733. PubMed ID: 31239556
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Role of a novel functional variant in the PPP2R1A promoter on the regulation of PP2A-Aalpha and the risk of hepatocellular carcinoma.
    Chen HF; Mai JR; Wan JX; Gao YF; Lin LN; Wang SZ; Chen YX; Zhang CZ; Zhang YJ; Xia B; Liao K; Lin YC; Lin ZN
    PLoS One; 2013; 8(3):e59574. PubMed ID: 23555712
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
    Hebebrand M; Hüffmeier U; Trollmann R; Hehr U; Uebe S; Ekici AB; Kraus C; Krumbiegel M; Reis A; Thiel CT; Popp B
    Orphanet J Rare Dis; 2019 Feb; 14(1):38. PubMed ID: 30744660
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
    Hamanaka K; Miyake N; Mizuguchi T; Miyatake S; Uchiyama Y; Tsuchida N; Sekiguchi F; Mitsuhashi S; Tsurusaki Y; Nakashima M; Saitsu H; Yamada K; Sakamoto M; Fukuda H; Ohori S; Saida K; Itai T; Azuma Y; Koshimizu E; Fujita A; Erturk B; Hiraki Y; Ch'ng GS; Kato M; Okamoto N; Takata A; Matsumoto N
    Genome Med; 2022 Apr; 14(1):40. PubMed ID: 35468861
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.
    Ullah A; Shah AA; Alluqmani M; Haider N; Aman H; Alfadhli F; Almatrafi AM; Albalawi AM; Krishin J; Ullah Khan F; Anjam BA; Abdullah ; Lozano EP; Samad A; Ahmad W; Hansen T; Xia K; Basit S
    Int J Dev Neurosci; 2022 Dec; 82(8):789-805. PubMed ID: 36181241
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
    Darras N; Ha TK; Rego S; Martin PM; Barroso E; Slavotinek AM; Cilio MR
    Am J Med Genet A; 2019 Nov; 179(11):2190-2195. PubMed ID: 31465153
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
    Heide EC; Puk O; Biskup S; Krahn A; Rauf E; Kreilkamp BAK; Paulus W; Focke NK
    Am J Med Genet A; 2021 Dec; 185(12):3838-3843. PubMed ID: 34327820
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
    Fernández-Marmiesse A; Sánchez-Iglesias S; Darling A; O'Callaghan MM; Tonda R; Jou C; Araújo-Vilar D
    Seizure; 2019 Oct; 71():161-165. PubMed ID: 31369919
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
    Muir AM; Gardner JF; van Jaarsveld RH; de Lange IM; van der Smagt JJ; Wilson GN; Dubbs H; Goldberg EM; Zitano L; Bupp C; Martinez J; Srour M; Accogli A; Alhakeem A; Meltzer M; Gropman A; Brewer C; Caswell RC; Montgomery T; McKenna C; McKee S; Powell C; Vasudevan PC; Brady AF; Joss S; Tysoe C; Noh G; Tarnopolsky M; Brady L; Zafar M; Schrier Vergano SA; Murray B; Sawyer L; Hainline BE; Sapp K; DeMarzo D; Huismann DJ; Wentzensen IM; Schnur RE; Monaghan KG; Juusola J; Rhodes L; Dobyns WB; Lecoquierre F; Goldenberg A; Polster T; Axer-Schaefer S; Platzer K; Klöckner C; Hoffman TL; MacArthur DG; O'Leary MC; VanNoy GE; England E; Varghese VC; Mefford HC
    Genet Med; 2021 May; 23(5):881-887. PubMed ID: 33473207
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
    Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N
    Am J Hum Genet; 2021 Apr; 108(4):739-748. PubMed ID: 33711248
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
    Toldo I; Bonardi CM; Bettella E; Polli R; Talenti G; Burlina A; Sartori S; Murgia A
    Eur J Paediatr Neurol; 2018 Nov; 22(6):1042-1053. PubMed ID: 30005813
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.