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 *

128 related articles for article (PubMed ID: 30997057)

  • 1. Whole-exome sequencing reveals novel
    Lenberg JL; Pretorius DH; Rupe ES; Jones MC; Ramos GA; Andreasen TS
    Clin Case Rep; 2019 Apr; 7(4):656-660. PubMed ID: 30997057
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A patient with mosaic USP9X gene variant.
    Barili V; Dall'Asta A; Uliana V; Schera GBL; Ormitti F; Romanini E; Micalizzi A; Magliozzi M; Perrino D; Novelli A; Ghi T; Percesepe A
    Eur J Med Genet; 2022 Dec; 65(12):104638. PubMed ID: 36216272
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.
    Au PYB; Huang L; Broley S; Gallagher L; Creede E; Lahey D; Ordorica S; Mina K; Boycott KM; Baynam G; Dyment DA
    Eur J Med Genet; 2017 Jul; 60(7):359-364. PubMed ID: 28377321
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
    Heide S; Spentchian M; Valence S; Buratti J; Mach C; Lejeune E; Olin V; Massimello M; Lehalle D; Mouthon L; Whalen S; Faudet A; Mignot C; Garel C; Blondiaux E; Lefebvre M; Quenum-Miraillet G; Chantot-Bastaraud S; Milh M; Bretelle F; Portes VD; Guibaud L; Putoux A; Tsatsaris V; Spodenkiewic M; Layet V; Dard R; Mandelbrot L; Guet A; Moutton S; Gorce M; Nizon M; Vincent M; Beneteau C; Rocchisanni MA; Benachi A; Saada J; Attié-Bitach T; Guilbaud L; Maurice P; Friszer S; Jouannic JM; de Villemeur TB; Moutard ML; Keren B; Héron D
    Genet Med; 2020 Nov; 22(11):1887-1891. PubMed ID: 32565546
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.
    Qiu Y; Xin L; Wang Y; Yu Y; Zou K; Zhou Q; Chen Y; Chen S; Zhu M; Hong D
    Neurodegener Dis; 2018; 18(2-3):156-164. PubMed ID: 29966135
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability.
    Li D; March ME; Wang T; Merengwa V; Sertori Finoti L; Schrier Vergano SA; Hakonarson H; Bhoj EJ
    Am J Med Genet A; 2022 Jun; 188(6):1808-1814. PubMed ID: 35253988
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Novel Splice-Site Variant in
    Al Shibli N; Al-Maawali A; Elmanzalawy A; Al-Nabhani M; Koul R; Gabr A; Al Murshedi F
    J Pediatr Genet; 2020 Dec; 9(4):293-295. PubMed ID: 32765936
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
    Dhamija R; Graham JM; Smaoui N; Thorland E; Kirmani S
    Eur J Med Genet; 2014 Mar; 57(4):181-4. PubMed ID: 24583203
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature.
    Guadarrama-Ortiz P; Choreño-Parra JA; de la Rosa-Arredondo T
    J Med Case Rep; 2020 Feb; 14(1):28. PubMed ID: 32046774
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability.
    Rao ACA; Goel H
    Eur J Med Genet; 2020 Dec; 63(12):104092. PubMed ID: 33130023
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Beyond Isolated and Associated: A Novel Fetal MR Imaging-Based Scoring System Helps in the Prenatal Prognostication of Callosal Agenesis.
    Glatter S; Kasprian G; Bettelheim D; Ulm B; Weber M; Seidl R; Prayer D; Diogo MC
    AJNR Am J Neuroradiol; 2021 Apr; 42(4):782-786. PubMed ID: 33707281
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel Variant in the
    Agazzi C; Magliozzi M; Iacoviello O; Palladino S; Delvecchio M; Masciopinto M; Galati A; Novelli A; Causio FA; Zampino G; Ruggiero C; Fischetto R
    Mol Syndromol; 2023 Apr; 14(2):158-163. PubMed ID: 37064340
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
    Platzer K; Hüning I; Obieglo C; Schwarzmayr T; Gabriel R; Strom TM; Gillessen-Kaesbach G; Kaiser FJ
    Am J Med Genet A; 2014 Aug; 164A(8):1976-80. PubMed ID: 24798461
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Whole-Exome Sequencing Revealed Mutations of
    Jiang Y; Qian YQ; Yang MM; Zhan QT; Chen Y; Xi FF; Sagnelli M; Dong MY; Zhao BH; Luo Q
    Front Genet; 2019; 10():1201. PubMed ID: 31824579
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Agenesis of the corpus callosum. An autopsy study in fetuses.
    Kidron D; Shapira D; Ben Sira L; Malinger G; Lev D; Cioca A; Sharony R; Lerman Sagie T
    Virchows Arch; 2016 Feb; 468(2):219-30. PubMed ID: 26573426
    [TBL] [Abstract][Full Text] [Related]  

  • 17. L1CAM mutations in three fetuses diagnosed by medical exome sequencing.
    Li YT; Chen JS; Jian W; He YD; Li N; Xie YN; Wang J; Zhang VW; Huang WR; Jiang FM; Ye XQ; Chen DJ; Chen M
    Taiwan J Obstet Gynecol; 2020 May; 59(3):451-455. PubMed ID: 32416898
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
    Stevens SJ; van Essen AJ; van Ravenswaaij CM; Elias AF; Haven JA; Lelieveld SH; Pfundt R; Nillesen WM; Yntema HG; van Roozendaal K; Stegmann AP; Gilissen C; Brunner HG
    Genome Med; 2016 Dec; 8(1):131. PubMed ID: 27964749
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review.
    Sotiriadis A; Makrydimas G
    Am J Obstet Gynecol; 2012 Apr; 206(4):337.e1-5. PubMed ID: 22284958
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.
    Sagi-Dain L; Kurolap A; Ilivitzki A; Mory A; Paperna T; ; Kedar R; Gonzaga-Jauregui C; Peleg A; Baris Feldman H
    Am J Med Genet A; 2020 Jan; 182(1):205-212. PubMed ID: 31697046
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.