BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

119 related articles for article (PubMed ID: 34653680)

  • 21. PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
    Ohba C; Okamoto N; Murakami Y; Suzuki Y; Tsurusaki Y; Nakashima M; Miyake N; Tanaka F; Kinoshita T; Matsumoto N; Saitsu H
    Neurogenetics; 2014 May; 15(2):85-92. PubMed ID: 24253414
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.
    Fattal-Valevski A; Ben Sira L; Lerman-Sagie T; Strausberg R; Bloch-Mimouni A; Edvardson S; Kaufman R; Chernuha V; Schneebaum Sender N; Heimer G; Ben Zeev B
    Eur J Paediatr Neurol; 2021 May; 32():40-45. PubMed ID: 33756211
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
    [TBL] [Abstract][Full Text] [Related]  

  • 24. BRAT1 mutations present with a spectrum of clinical severity.
    Srivastava S; Olson HE; Cohen JS; Gubbels CS; Lincoln S; Davis BT; Shahmirzadi L; Gupta S; Picker J; Yu TW; Miller DT; Soul JS; Poretti A; Naidu S
    Am J Med Genet A; 2016 Sep; 170(9):2265-73. PubMed ID: 27282546
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Clinical phenotypes of TBC1D24 gene related epilepsy].
    Zhang J; Zhang YH; Chen JY; Zhang LP; Zeng Q; Tian XJ; Yang ZX; Wu Y; Yang XL; Wu XR
    Zhonghua Er Ke Za Zhi; 2018 Sep; 56(9):667-673. PubMed ID: 30180405
    [No Abstract]   [Full Text] [Related]  

  • 26. Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.
    Takanashi J; Okamoto N; Yamamoto Y; Hayashi S; Arai H; Takahashi Y; Maruyama K; Mizuno S; Shimakawa S; Ono H; Oyanagi R; Kubo S; Barkovich AJ; Inazawa J
    Am J Med Genet A; 2012 Dec; 158A(12):3112-8. PubMed ID: 23165780
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
    Myers KA; Mandelstam SA; Ramantani G; Rushing EJ; de Vries BB; Koolen DA; Scheffer IE
    Epilepsia; 2017 Jun; 58(6):1085-1094. PubMed ID: 28440867
    [TBL] [Abstract][Full Text] [Related]  

  • 28. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
    Cai S; Li J; Wu Y; Jiang Y
    J Hum Genet; 2020 Jul; 65(7):601-608. PubMed ID: 32203252
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
    Bramswig NC; Lüdecke HJ; Hamdan FF; Altmüller J; Beleggia F; Elcioglu NH; Freyer C; Gerkes EH; Demirkol YK; Knupp KG; Kuechler A; Li Y; Lowenstein DH; Michaud JL; Park K; Stegmann APA; Veenstra-Knol HE; Wieland T; Wollnik B; Engels H; Strom TM; Kleefstra T; Wieczorek D
    Hum Genet; 2017 Jul; 136(7):821-834. PubMed ID: 28393272
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
    Masurel-Paulet A; Piton A; Chancenotte S; Redin C; Thauvin-Robinet C; Henrenger Y; Minot D; Creppy A; Ruffier-Bourdet M; Thevenon J; Kuentz P; Lehalle D; Curie A; Blanchard G; Ghosn E; Bonnet M; Archimbaud-Devilliers M; Huet F; Perret O; Philip N; Mandel JL; Faivre L
    Am J Med Genet A; 2016 Aug; 170(8):2103-10. PubMed ID: 27256868
    [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. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
    Rech ME; McCarthy JM; Chen CA; Edmond JC; Shah VS; Bosch DGM; Berry GT; Williams L; Madan-Khetarpal S; Niyazov D; Shaw-Smith C; Kovar EM; Lupo PJ; Schaaf CP
    Am J Med Genet A; 2020 Jun; 182(6):1426-1437. PubMed ID: 32275123
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome.
    Park JS; Kim MJ; Kim SY; Lim BC; Kim KJ; Seong MW; Lee JS; Chae JH
    Brain Dev; 2020 Oct; 42(9):680-685. PubMed ID: 32713659
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
    Le Ber I; Clot F; Vercueil L; Camuzat A; Viémont M; Benamar N; De Liège P; Ouvrard-Hernandez AM; Pollak P; Stevanin G; Brice A; Dürr A
    Neurology; 2006 Nov; 67(10):1769-73. PubMed ID: 17130408
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The Elp2 subunit of elongator and elongating RNA polymerase II holoenzyme is a WD40 repeat protein.
    Fellows J; Erdjument-Bromage H; Tempst P; Svejstrup JQ
    J Biol Chem; 2000 Apr; 275(17):12896-9. PubMed ID: 10777588
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
    Megahed H; Nicouleau M; Barcia G; Medina-Cano D; Siquier-Pernet K; Bole-Feysot C; Parisot M; Masson C; Nitschké P; Rio M; Bahi-Buisson N; Desguerre I; Munnich A; Boddaert N; Colleaux L; Cantagrel V
    Orphanet J Rare Dis; 2016 May; 11(1):57. PubMed ID: 27146152
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Arabidopsis Elongator subunit 2 positively contributes to resistance to the necrotrophic fungal pathogens Botrytis cinerea and Alternaria brassicicola.
    Wang C; Ding Y; Yao J; Zhang Y; Sun Y; Colee J; Mou Z
    Plant J; 2015 Sep; 83(6):1019-33. PubMed ID: 26216741
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.