BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

683 related articles for article (PubMed ID: 27550844)

  • 21. Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
    Begemann A; Acuña MA; Zweier M; Vincent M; Steindl K; Bachmann-Gagescu R; Hackenberg A; Abela L; Plecko B; Kroell-Seger J; Baumer A; Yamakawa K; Inoue Y; Asadollahi R; Sticht H; Zeilhofer HU; Rauch A
    Mol Med; 2019 Feb; 25(1):6. PubMed ID: 30813884
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
    Barrie ES; Cottrell CE; Gastier-Foster J; Hickey SE; Patel AD; Santoro SL; Alfaro MP
    Eur J Med Genet; 2020 Mar; 63(3):103735. PubMed ID: 31415821
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies.
    Lam Z; Wall E; Ryan G; Barber R; Kilby MD; Williams DK
    Prenat Diagn; 2023 Aug; 43(9):1247-1250. PubMed ID: 37409888
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
    Duncan AR; Polovitskaya MM; Gaitán-Peñas H; Bertelli S; VanNoy GE; Grant PE; O'Donnell-Luria A; Valivullah Z; Lovgren AK; England EM; Agolini E; Madden JA; Schmitz-Abe K; Kritzer A; Hawley P; Novelli A; Alfieri P; Colafati GS; Wieczorek D; Platzer K; Luppe J; Koch-Hogrebe M; Abou Jamra R; Neira-Fresneda J; Lehman A; Boerkoel CF; Seath K; Clarke L; ; van Ierland Y; Argilli E; Sherr EH; Maiorana A; Diel T; Hempel M; Bierhals T; Estévez R; Jentsch TJ; Pusch M; Agrawal PB
    Am J Hum Genet; 2021 Aug; 108(8):1450-1465. PubMed ID: 34186028
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.
    Panda PK; Sharawat IK; Joshi K; Dawman L; Bolia R
    Brain Dev; 2020 Oct; 42(9):646-654. PubMed ID: 32600841
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Epilepsy and mental retardation limited to females: an under-recognized disorder.
    Scheffer IE; Turner SJ; Dibbens LM; Bayly MA; Friend K; Hodgson B; Burrows L; Shaw M; Wei C; Ullmann R; Ropers HH; Szepetowski P; Haan E; Mazarib A; Afawi Z; Neufeld MY; Andrews PI; Wallace G; Kivity S; Lev D; Lerman-Sagie T; Derry CP; Korczyn AD; Gecz J; Mulley JC; Berkovic SF
    Brain; 2008 Apr; 131(Pt 4):918-27. PubMed ID: 18234694
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.
    Zhao X; Wang Y; Mei S; Kong X
    Mol Genet Genomic Med; 2020 Jun; 8(6):e1234. PubMed ID: 32314541
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
    Ewans LJ; Field M; Zhu Y; Turner G; Leffler M; Dinger ME; Cowley MJ; Buckley MF; Scheffer IE; Jackson MR; Roscioli T; Shoubridge C
    Eur J Hum Genet; 2017 Jun; 25(6):763-767. PubMed ID: 28295038
    [TBL] [Abstract][Full Text] [Related]  

  • 29.
    Lehalle D; Vabres P; Sorlin A; Bierhals T; Avila M; Carmignac V; Chevarin M; Torti E; Abe Y; Bartolomaeus T; Clayton-Smith J; Cogné B; Cusco I; Duplomb L; De Bont E; Duffourd Y; Duijkers F; Elpeleg O; Fattal A; Geneviève D; Guillen Sacoto MJ; Guimier A; Harris DJ; Hempel M; Isidor B; Jouan T; Kuentz P; Koshimizu E; Lichtenbelt K; Loik Ramey V; Maik M; Miyakate S; Murakami Y; Pasquier L; Pedro H; Simone L; Sondergaard-Schatz K; St-Onge J; Thevenon J; Valenzuela I; Abou Jamra R; van Gassen K; van Haelst MM; van Koningsbruggen S; Verdura E; Whelan Habela C; Zacher P; Rivière JB; Thauvin-Robinet C; Betschinger J; Faivre L
    J Med Genet; 2020 Dec; 57(12):808-819. PubMed ID: 32409512
    [TBL] [Abstract][Full Text] [Related]  

  • 30. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
    Palmer EE; Carroll R; Shaw M; Kumar R; Minoche AE; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Nawaz U; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; Demeer B; Andrieux J; Albarazi SH; Bye A; Sachdev R; Kirk EP; Cowley MJ; Field M; Gecz J
    Am J Hum Genet; 2020 Dec; 107(6):1157-1169. PubMed ID: 33159883
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
    Smogavec M; Cleall A; Hoyer J; Lederer D; Nassogne MC; Palmer EE; Deprez M; Benoit V; Maystadt I; Noakes C; Leal A; Shaw M; Gecz J; Raymond L; Reis A; Shears D; Brockmann K; Zweier C
    J Med Genet; 2016 Dec; 53(12):820-827. PubMed ID: 27439707
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
    Heussinger N; Saake M; Mennecke A; Dörr HG; Trollmann R
    Pediatr Neurol; 2017 Feb; 67():45-52. PubMed ID: 28065824
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
    Hynes K; Tarpey P; Dibbens LM; Bayly MA; Berkovic SF; Smith R; Raisi ZA; Turner SJ; Brown NJ; Desai TD; Haan E; Turner G; Christodoulou J; Leonard H; Gill D; Stratton MR; Gecz J; Scheffer IE
    J Med Genet; 2010 Mar; 47(3):211-6. PubMed ID: 19752159
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
    Moortgat S; Berland S; Aukrust I; Maystadt I; Baker L; Benoit V; Caro-Llopis A; Cooper NS; Debray FG; Faivre L; Gardeitchik T; Haukanes BI; Houge G; Kivuva E; Martinez F; Mehta SG; Nassogne MC; Powell-Hamilton N; Pfundt R; Rosello M; Prescott T; Vasudevan P; van Loon B; Verellen-Dumoulin C; Verloes A; Lippe CV; Wakeling E; Wilkie AOM; Wilson L; Yuen A; Study D; Low KJ; Newbury-Ecob RA
    Eur J Hum Genet; 2018 Jan; 26(1):64-74. PubMed ID: 29180823
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
    Frints SGM; Ozanturk A; Rodríguez Criado G; Grasshoff U; de Hoon B; Field M; Manouvrier-Hanu S; E Hickey S; Kammoun M; Gripp KW; Bauer C; Schroeder C; Toutain A; Mihalic Mosher T; Kelly BJ; White P; Dufke A; Rentmeester E; Moon S; Koboldt DC; van Roozendaal KEP; Hu H; Haas SA; Ropers HH; Murray L; Haan E; Shaw M; Carroll R; Friend K; Liebelt J; Hobson L; De Rademaeker M; Geraedts J; Fryns JP; Vermeesch J; Raynaud M; Riess O; Gribnau J; Katsanis N; Devriendt K; Bauer P; Gecz J; Golzio C; Gontan C; Kalscheuer VM
    Mol Psychiatry; 2019 Nov; 24(11):1748-1768. PubMed ID: 29728705
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
    Frints SGM; Hennig F; Colombo R; Jacquemont S; Terhal P; Zimmerman HH; Hunt D; Mendelsohn BA; Kordaß U; Webster R; Sinnema M; Abdul-Rahman O; Suckow V; Fernández-Jaén A; van Roozendaal K; Stevens SJC; Macville MVE; Al-Nasiry S; van Gassen K; Utzig N; Koudijs SM; McGregor L; Maas SM; Baralle D; Dixit A; Wieacker P; Lee M; Lee AS; Engle EC; Houge G; Gradek GA; Douglas AGL; Longman C; Joss S; Velasco D; Hennekam RC; Hirata H; Kalscheuer VM
    Hum Mutat; 2019 Dec; 40(12):2270-2285. PubMed ID: 31206972
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
    Symonds JD; Joss S; Metcalfe KA; Somarathi S; Cruden J; Devlin AM; Donaldson A; DiDonato N; Fitzpatrick D; Kaiser FJ; Lampe AK; Lees MM; McLellan A; Montgomery T; Mundada V; Nairn L; Sarkar A; Schallner J; Pozojevic J; Parenti I; Tan J; Turnpenny P; Whitehouse WP; ; Zuberi SM
    Epilepsia; 2017 Apr; 58(4):565-575. PubMed ID: 28166369
    [TBL] [Abstract][Full Text] [Related]  

  • 39. X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.
    Sikora J; Leddy J; Gulinello M; Walkley SU
    Dis Model Mech; 2016 Jan; 9(1):13-23. PubMed ID: 26515654
    [TBL] [Abstract][Full Text] [Related]  

  • 40. MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.
    Yang JH; Liu ZG; Liu CL; Zhang MR; Jia YL; Zhai QX; He MF; He N; Qiao JD
    Seizure; 2024 Mar; 116():30-36. PubMed ID: 36894399
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 35.