BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 36683851)

  • 1. Expanding the phenotypic spectrum of
    Yan HJ; He YY; Jin L; Guo Q; Zhou JH; Luo S
    Front Mol Neurosci; 2022; 15():1081097. PubMed ID: 36683851
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
    Elhossini RM; Sayed IM; Hellal US; Mahmoud SAM; Aglan MS; Hassib NF; Abdel-Hamid MS
    Am J Med Genet A; 2024 Jan; 194(1):39-45. PubMed ID: 37750049
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
    Bauer CK; Calligari P; Radio FC; Caputo V; Dentici ML; Falah N; High F; Pantaleoni F; Barresi S; Ciolfi A; Pizzi S; Bruselles A; Person R; Richards S; Cho MT; Claps Sepulveda DJ; Pro S; Battini R; Zampino G; Digilio MC; Bocchinfuso G; Dallapiccola B; Stella L; Tartaglia M
    Am J Hum Genet; 2018 Oct; 103(4):621-630. PubMed ID: 30290154
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
    Kortüm F; Niceta M; Magliozzi M; Dumic Kubat K; Robertson SP; Moresco A; Dentici ML; Baban A; Leoni C; Onesimo R; Obregon MG; Digilio MC; Zampino G; Novelli A; Tartaglia M; Kutsche K
    Eur J Med Genet; 2020 Sep; 63(9):103996. PubMed ID: 32622958
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K
    Gripp KW; Smithson SF; Scurr IJ; Baptista J; Majumdar A; Pierre G; Williams M; Henderson LB; Wentzensen IM; McLaughlin H; Leeuwen L; Simon MEH; van Binsbergen E; Dinulos MBP; Kaplan JD; McRae A; Superti-Furga A; Good JM; Kutsche K
    Eur J Hum Genet; 2021 Sep; 29(9):1384-1395. PubMed ID: 33594261
    [TBL] [Abstract][Full Text] [Related]  

  • 6.
    Zeng Q; Yang Y; Duan J; Niu X; Chen Y; Wang D; Zhang J; Chen J; Yang X; Li J; Yang Z; Jiang Y; Liao J; Zhang Y
    Front Mol Neurosci; 2022; 15():809951. PubMed ID: 35431799
    [TBL] [Abstract][Full Text] [Related]  

  • 7.
    Li XL; Li ZJ; Liang XY; Liu DT; Jiang M; Gao LD; Li H; Tang XQ; Shi YW; Li BM; He N; Li B; Bian WJ; Yi YH; Cheng CF; Wang J
    Front Mol Neurosci; 2022; 15():860662. PubMed ID: 35600082
    [TBL] [Abstract][Full Text] [Related]  

  • 8.
    Bian WJ; Li ZJ; Wang J; Luo S; Li BM; Gao LD; He N; Yi YH
    Front Mol Neurosci; 2022; 15():862480. PubMed ID: 35663265
    [TBL] [Abstract][Full Text] [Related]  

  • 9. OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development.
    Oner TO; Unalp A; Hiz S; Bayram E; Kaytan I; Cingoz S
    Epileptic Disord; 2021 Dec; 23(6):843-853. PubMed ID: 34704946
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome.
    Luo S; Bi B; Zhang W; Zhou R; Chen W; Zhao P; Huang Y; Yuan L; He X
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1798. PubMed ID: 34469078
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
    Singh S; Gupta A; Zech M; Sigafoos AN; Clark KJ; Dincer Y; Wagner M; Humberson JB; Green S; van Gassen K; Brandt T; Schnur RE; Millan F; Si Y; Mall V; Winkelmann J; Gavrilova RH; Klee EW; Engleman K; Safina NP; Slaugh R; Bryant EM; Tan WH; Granadillo J; Misra SN; Schaefer GB; Towner S; Brilstra EH; Koeleman BPC
    Genet Med; 2020 Aug; 22(8):1413-1417. PubMed ID: 32366965
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca
    Bauer CK; Schneeberger PE; Kortüm F; Altmüller J; Santos-Simarro F; Baker L; Keller-Ramey J; White SM; Campeau PM; Gripp KW; Kutsche K
    Am J Hum Genet; 2019 Jun; 104(6):1139-1157. PubMed ID: 31155282
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
    De Maria B; Balestrini S; Mei D; Melani F; Pellacani S; Pisano T; Rosati A; Scaturro GM; Giordano L; Cantalupo G; Fontana E; Zammarchi C; Said E; Leuzzi V; Mastrangelo M; Galosi S; Parrini E; Guerrini R
    Am J Med Genet A; 2022 Feb; 188(2):522-533. PubMed ID: 34713950
    [TBL] [Abstract][Full Text] [Related]  

  • 15. De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
    Scala M; Zonneveld-Huijssoon E; Brienza M; Mecarelli O; van der Hout AH; Zambrelli E; Turner K; Zara F; Peron A; Vignoli A; Striano P
    Neurogenetics; 2021 Mar; 22(1):87-94. PubMed ID: 32939676
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
    Hiraide T; Yamoto K; Masunaga Y; Asahina M; Endoh Y; Ohkubo Y; Matsubayashi T; Tsurui S; Yamada H; Yanagi K; Nakashima M; Hirano K; Sugimura H; Fukuda T; Ogata T; Saitsu H
    Clin Genet; 2021 Jul; 100(1):40-50. PubMed ID: 33644862
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children.
    Leng X; Zhang T; Guan Y; Tang M
    Seizure; 2022 Dec; 103():108-114. PubMed ID: 36399868
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Expanding the Phenotypic and Genotypic Spectrum of
    Xu L; Zhou Y; Ren X; Xu C; Ren R; Yan X; Li X; Yang H; Xu X; Guo X; Sheng G; Hua Y; Yuan Z; Wang S; Gu W; Sun D; Gao F
    Front Mol Neurosci; 2022; 15():862096. PubMed ID: 35782386
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.