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 *

119 related articles for article (PubMed ID: 30513135)

  • 1. Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.
    Birnbaum R; Yosha-Orpaz N; Yanoov-Sharav M; Kidron D; Gur H; Yosovich K; Lerman-Sagie T; Malinger G; Lev D
    Am J Med Genet A; 2019 Jan; 179(1):78-84. PubMed ID: 30513135
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.
    Agolini E; Dentici ML; Bellacchio E; Alesi V; Radio FC; Torella A; Musacchia F; Tartaglia M; Dallapiccola B; Nigro V; Digilio MC; Novelli A
    Clin Genet; 2018 Mar; 93(3):675-681. PubMed ID: 28902392
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Further delineation of the phenotype caused by loss of function mutations in PRMT7.
    Valenzuela I; Segura-Puimedon M; Rodríguez-Santiago B; Fernández-Alvarez P; Vendrell T; Armengol L; Tizzano E
    Eur J Med Genet; 2019 Mar; 62(3):182-185. PubMed ID: 30006058
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
    Kernohan KD; McBride A; Xi Y; Martin N; Schwartzentruber J; Dyment DA; Majewski J; Blaser S; ; Boycott KM; Chitayat D
    Clin Genet; 2017 May; 91(5):708-716. PubMed ID: 27718516
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
    Cali E; Suri M; Scala M; Ferla MP; Alavi S; Faqeih EA; Bijlsma EK; Wigby KM; Baralle D; Mehrjardi MYV; Schwab J; Platzer K; Steindl K; Hashem M; Jones M; Niyazov DM; Jacober J; Littlejohn RO; Weis D; Zadeh N; Rodan L; Goldenberg A; Lecoquierre F; Dutra-Clarke M; Horvath G; Young D; Orenstein N; Bawazeer S; Vulto-van Silfhout AT; Herenger Y; Dehghani M; Seyedhassani SM; Bahreini A; Nasab ME; Ercan-Sencicek AG; Firoozfar Z; Movahedinia M; Efthymiou S; Striano P; Karimiani EG; Salpietro V; Taylor JC; Redman M; Stegmann APA; Laner A; Abdel-Salam G; Li M; Bengala M; Müller AJ; Digilio MC; Rauch A; Gunel M; Titheradge H; Schweitzer DN; Kraus A; Valenzuela I; McLean SD; Phornphutkul C; Salih M; Begtrup A; Schnur RE; Torti E; Haack TB; Prada CE; Alkuraya FS; Houlden H; Maroofian R
    Genet Med; 2023 Jan; 25(1):135-142. PubMed ID: 36399134
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.
    Rodari G; Villa R; Porro M; Gangi S; Iascone M; Elli F; Giacchetti F; Profka E; Collini V; Dall'Antonia A; Arosio M; Mantovani G; Bedeschi MF; Giavoli C
    Eur J Hum Genet; 2023 Feb; 31(2):195-201. PubMed ID: 36348013
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability.
    Poquérusse J; Whitford W; Taylor J; Alburaiky S; Snell RG; Lehnert K; Jacobsen JC
    J Hum Genet; 2022 Jan; 67(1):19-26. PubMed ID: 34244600
    [TBL] [Abstract][Full Text] [Related]  

  • 8. PRMT7 as a unique member of the protein arginine methyltransferase family: A review.
    Jain K; Clarke SG
    Arch Biochem Biophys; 2019 Apr; 665():36-45. PubMed ID: 30802433
    [TBL] [Abstract][Full Text] [Related]  

  • 9. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
    DeSanto C; D'Aco K; Araujo GC; Shannon N; ; Vernon H; Rahrig A; Monaghan KG; Niu Z; Vitazka P; Dodd J; Tang S; Manwaring L; Martir-Negron A; Schnur RE; Juusola J; Schroeder A; Pan V; Helbig KL; Friedman B; Shinawi M
    J Med Genet; 2015 Nov; 52(11):754-61. PubMed ID: 26264232
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3.
    Ono H; Kurosawa K; Wakamatsu N; Masuda S
    Congenit Anom (Kyoto); 2017 Jul; 57(4):118-121. PubMed ID: 28039919
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
    Remerand G; Boespflug-Tanguy O; Tonduti D; Touraine R; Rodriguez D; Curie A; Perreton N; Des Portes V; Sarret C;
    Dev Med Child Neurol; 2019 Dec; 61(12):1439-1447. PubMed ID: 31410843
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation in the GATAD2B gene associated with severe intellectual disability.
    Ueda K; Yanagi K; Kaname T; Okamoto N
    Brain Dev; 2019 Mar; 41(3):276-279. PubMed ID: 30482549
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.
    Yi Z; Song Z; Li F; Yang C; Xue J; Li L; Zhang M; Zhang Y
    Int J Dev Neurosci; 2022 May; 82(3):271-276. PubMed ID: 35080253
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Protein arginine methyltransferase 7 has a novel homodimer-like structure formed by tandem repeats.
    Hasegawa M; Toma-Fukai S; Kim JD; Fukamizu A; Shimizu T
    FEBS Lett; 2014 May; 588(10):1942-8. PubMed ID: 24726727
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome.
    Yang C; Hou M; Li Y; Sun D; Guo Y; Liu P; Liu Y; Song J; Zhang N; Wei W; Chen Z
    Int J Dev Neurosci; 2018 Aug; 68():83-88. PubMed ID: 29758347
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Methylation determines the extracellular calcium sensitivity of the leak channel NALCN in hippocampal dentate granule cells.
    Lee SY; Vuong TA; Wen X; Jeong HJ; So HK; Kwon I; Kang JS; Cho H
    Exp Mol Med; 2019 Oct; 51(10):1-14. PubMed ID: 31601786
    [TBL] [Abstract][Full Text] [Related]  

  • 17. PRMT7 is a member of the protein arginine methyltransferase family with a distinct substrate specificity.
    Miranda TB; Miranda M; Frankel A; Clarke S
    J Biol Chem; 2004 May; 279(22):22902-7. PubMed ID: 15044439
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.
    Salah A; Almannai M; Al Ojaimi M; Radefeldt M; Gulati N; Iqbal M; Alawbathani S; Al-Ali R; Beetz C; El-Hattab AW
    Clin Genet; 2022 May; 101(5-6):565-570. PubMed ID: 35229282
    [TBL] [Abstract][Full Text] [Related]  

  • 19. De novo duplication of chromosome 13(q32-q34) in a child with developmental delay.
    Milani D; D'Arrigo S; Guerneri S; Selicorni A; Riva D; Pantaleoni C
    J Child Neurol; 2006 Dec; 21(12):1084-5. PubMed ID: 17156706
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.
    Nowaczyk MJ; Carter MT; Xu J; Huggins M; Raca G; Das S; Martin CL; Schwartz S; Rosenfield R; Waggoner DJ
    Am J Med Genet A; 2008 Feb; 146A(3):354-60. PubMed ID: 18203180
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.