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 *

327 related articles for article (PubMed ID: 30166628)

  • 41. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
    Langhammer F; Maroofian R; Badar R; Gregor A; Rochman M; Ratliff JB; Koopmans M; Herget T; Hempel M; Kortüm F; Heron D; Mignot C; Keren B; Brooks S; Botti C; Ben-Zeev B; Argilli E; Sherr EH; Gowda VK; Srinivasan VM; Bakhtiari S; Kruer MC; Salih MA; Kuechler A; Muller EA; Blocker K; Kuismin O; Park KL; Kochhar A; Brown K; Ramanathan S; Clark RD; Elgizouli M; Melikishvili G; Tabatadze N; Stark Z; Mirzaa GM; Ong J; Grasshoff U; Bevot A; von Wintzingerode L; Jamra RA; Hennig Y; Goldenberg P; Al Alam C; Charif M; Boulouiz R; Bellaoui M; Amrani R; Al Mutairi F; Tamim AM; Abdulwahab F; Alkuraya FS; Khouj EM; Alvi JR; Sultan T; Hashemi N; Karimiani EG; Ashrafzadeh F; Imannezhad S; Efthymiou S; Houlden H; Sticht H; Zweier C
    Genet Med; 2023 Aug; 25(8):100885. PubMed ID: 37165955
    [TBL] [Abstract][Full Text] [Related]  

  • 42. GRM7-related disorder: five additional patients from three independent families and review of the literature.
    Januel L; Chatron N; Rivier-Ringenbach C; Cabet S; Labalme A; Sahin Y; Darvish H; Kruer M; Bakhtiari S; Sanlaville D; de Sainte Agathe JM; Lesca G
    Eur J Med Genet; 2024 Feb; 67():104893. PubMed ID: 38070825
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
    Dzinovic I; Škorvánek M; Necpál J; Boesch S; Švantnerová J; Wagner M; Havránková P; Pavelekova P; Haň V; Janzarik WG; Berweck S; Diebold I; Kuster A; Jech R; Winkelmann J; Zech M
    Parkinsonism Relat Disord; 2021 Sep; 90():73-78. PubMed ID: 34399161
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of
    Happ HC; Sadleir LG; Zemel M; de Valles-Ibáñez G; Hildebrand MS; McConkie-Rosell A; McDonald M; May H; Sands T; Aggarwal V; Elder C; Feyma T; Bayat A; Møller RS; Fenger CD; Klint Nielsen JE; Datta AN; Gorman KM; King MD; Linhares ND; Burton BK; Paras A; Ellard S; Rankin J; Shukla A; Majethia P; Olson RJ; Muthusamy K; Schimmenti LA; Starnes K; Sedláčková L; Štěrbová K; Vlčková M; Laššuthová P; Jahodová A; Porter BE; Couque N; Colin E; Prouteau C; Collet C; Smol T; Caumes R; Vansenne F; Bisulli F; Licchetta L; Person R; Torti E; McWalter K; Webster R; Gerard EE; Lesca G; Szepetowski P; Scheffer IE; Mefford HC; Carvill GL
    Neurology; 2023 Feb; 100(6):e603-e615. PubMed ID: 36307226
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46.
    Heide S; Davoine CS; Cunha P; Scherer-Gagou C; Keren B; Stevanin G; Charles P; Heron D; Brice A; Durr A
    Neurol Genet; 2023 Dec; 9(6):e200096. PubMed ID: 38235039
    [TBL] [Abstract][Full Text] [Related]  

  • 47. The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
    Elkhateeb N; Issa MY; Elbendary HM; Elnaggar W; Ramadan A; Rafat K; Kamel M; Abdel-Ghafar SF; Amer F; Hassaan HM; Trunzo R; Pereira C; Abdel-Hamid MS; D'Arco F; Bauer P; Bertoli-Avella AM; Girgis M; Gleeson JG; Zaki MS; Selim L
    Clin Genet; 2024 May; 105(5):510-522. PubMed ID: 38221827
    [TBL] [Abstract][Full Text] [Related]  

  • 48.
    Roston A; Evans D; Gill H; McKinnon M; Isidor B; Cogné B; Mwenifumbo J; van Karnebeek C; An J; Jones SJM; Farrer M; Demos M; Connolly M; Gibson WT; ;
    J Med Genet; 2021 Mar; 58(3):196-204. PubMed ID: 32546566
    [TBL] [Abstract][Full Text] [Related]  

  • 49. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
    Oates S; Absoud M; Goyal S; Bayley S; Baulcomb J; Sims A; Riddett A; Allis K; Brasch-Andersen C; Balasubramanian M; Bai R; Callewaert B; Hüffmeier U; Le Duc D; Radtke M; Korff C; Kennedy J; Low K; Møller RS; Nielsen JEK; Popp B; Quteineh L; Rønde G; Schönewolf-Greulich B; Shillington A; Taylor MR; Todd E; Torring PM; Tümer Z; Vasileiou G; Yates TM; Zweier C; Rosch R; Basson MA; Pal DK
    Clin Genet; 2021 Oct; 100(4):412-429. PubMed ID: 34216016
    [TBL] [Abstract][Full Text] [Related]  

  • 50. A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family.
    Yi Z; Song Z; Xue J; Yang C; Li F; Pan H; Feng X; Zhang Y; Pan H
    BMC Med Genomics; 2022 Oct; 15(1):216. PubMed ID: 36243722
    [TBL] [Abstract][Full Text] [Related]  

  • 51. De novo GABRG2 mutations associated with epileptic encephalopathies.
    Shen D; Hernandez CC; Shen W; Hu N; Poduri A; Shiedley B; Rotenberg A; Datta AN; Leiz S; Patzer S; Boor R; Ramsey K; Goldberg E; Helbig I; Ortiz-Gonzalez XR; Lemke JR; Marsh ED; Macdonald RL
    Brain; 2017 Jan; 140(1):49-67. PubMed ID: 27864268
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
    Minardi R; Licchetta L; Baroni MC; Pippucci T; Stipa C; Mostacci B; Severi G; Toni F; Bergonzini L; Carelli V; Seri M; Tinuper P; Bisulli F
    Clin Genet; 2020 Nov; 98(5):477-485. PubMed ID: 32725632
    [TBL] [Abstract][Full Text] [Related]  

  • 53. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
    Helbig I; Lopez-Hernandez T; Shor O; Galer P; Ganesan S; Pendziwiat M; Rademacher A; Ellis CA; Hümpfer N; Schwarz N; Seiffert S; Peeden J; Shen J; Štěrbová K; Hammer TB; Møller RS; Shinde DN; Tang S; Smith L; Poduri A; Krause R; Benninger F; Helbig KL; Haucke V; Weber YG; ;
    Am J Hum Genet; 2019 Jun; 104(6):1060-1072. PubMed ID: 31104773
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
    de Kovel CGF; Syrbe S; Brilstra EH; Verbeek N; Kerr B; Dubbs H; Bayat A; Desai S; Naidu S; Srivastava S; Cagaylan H; Yis U; Saunders C; Rook M; Plugge S; Muhle H; Afawi Z; Klein KM; Jayaraman V; Rajagopalan R; Goldberg E; Marsh E; Kessler S; Bergqvist C; Conlin LK; Krok BL; Thiffault I; Pendziwiat M; Helbig I; Polster T; Borggraefe I; Lemke JR; van den Boogaardt MJ; Møller RS; Koeleman BPC
    JAMA Neurol; 2017 Oct; 74(10):1228-1236. PubMed ID: 28806457
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.
    Dilber C; Yücel G; Şahin Y
    Clin Neurol Neurosurg; 2022 Dec; 223():107509. PubMed ID: 36356440
    [TBL] [Abstract][Full Text] [Related]  

  • 56. De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
    Yates TM; Vasudevan PC; Chandler KE; Donnelly DE; Stark Z; Sadedin S; Willoughby J; ; ; Balasubramanian M
    Am J Med Genet A; 2017 Nov; 173(11):3003-3012. PubMed ID: 28944577
    [TBL] [Abstract][Full Text] [Related]  

  • 57. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
    Olson HE; Jean-Marçais N; Yang E; Heron D; Tatton-Brown K; van der Zwaag PA; Bijlsma EK; Krock BL; Backer E; Kamsteeg EJ; Sinnema M; Reijnders MRF; Bearden D; Begtrup A; Telegrafi A; Lunsing RJ; Burglen L; Lesca G; Cho MT; Smith LA; Sheidley BR; Moufawad El Achkar C; Pearl PL; Poduri A; Skraban CM; Tarpinian J; Nesbitt AI; Fransen van de Putte DE; Ruivenkamp CAL; Rump P; Chatron N; Sabatier I; De Bellescize J; Guibaud L; Sweetser DA; Waxler JL; Wierenga KJ; ; Donadieu J; Narayanan V; Ramsey KM; ; Nava C; Rivière JB; Vitobello A; Tran Mau-Them F; Philippe C; Bruel AL; Duffourd Y; Thomas L; Lelieveld SH; Schuurs-Hoeijmakers J; Brunner HG; Keren B; Thevenon J; Faivre L; Thomas G; Thauvin-Robinet C
    Am J Hum Genet; 2018 May; 102(5):995-1007. PubMed ID: 29656858
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
    Galer PD; Ganesan S; Lewis-Smith D; McKeown SE; Pendziwiat M; Helbig KL; Ellis CA; Rademacher A; Smith L; Poduri A; Seiffert S; von Spiczak S; Muhle H; van Baalen A; ; ; ; ; Thomas RH; Krause R; Weber Y; Helbig I
    Am J Hum Genet; 2020 Oct; 107(4):683-697. PubMed ID: 32853554
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature.
    Pisano S; Melis M; Figorilli M; Polizzi L; Rocchi L; Giglio S; Defazio G; Muroni A
    Seizure; 2022 Jul; 99():12-15. PubMed ID: 35525099
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.
    Terrone G; Pinelli M; Bernardo P; Parrini E; Imperati F; Brunetti-Pierri N; Del Giudice E
    Eur J Paediatr Neurol; 2020 Sep; 28():237-239. PubMed ID: 32811770
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.