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Journal Abstract Search

126 related items for PubMed ID: 36588759

  • 1. Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220-Associated Ventriculomegaly.
    Brady LI, DeFrance B, Tarnopolsky M.
    Mol Syndromol; 2022 Dec; 13(5):419-424. PubMed ID: 36588759
    [Abstract] [Full Text] [Related]

  • 2. Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.
    Mero IL, Mørk HH, Sheng Y, Blomhoff A, Opheim GL, Erichsen A, Vigeland MD, Selmer KK.
    Hum Mol Genet; 2017 Oct 01; 26(19):3792-3796. PubMed ID: 28934391
    [Abstract] [Full Text] [Related]

  • 3. Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.
    Alstrup M, Cesca F, Krawczun-Rygmaczewska A, López-Menéndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, Østergaard E.
    Genet Med; 2024 Nov 01; 26(11):101219. PubMed ID: 39033379
    [Abstract] [Full Text] [Related]

  • 4. Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.
    Yang W, Wang S, Huo X, Yang K, Guo Z, Li Y, Ji X, Hao B, Liao S.
    Heliyon; 2024 Sep 15; 10(17):e37355. PubMed ID: 39296002
    [Abstract] [Full Text] [Related]

  • 5. Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.
    El-Dessouky SH, Issa MY, Aboulghar MM, Gaafar HM, Elarab AE, Ateya MI, Omar HH, Beetz C, Zaki MS.
    Am J Med Genet A; 2020 Dec 15; 182(12):2867-2876. PubMed ID: 32909676
    [Abstract] [Full Text] [Related]

  • 6. A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.
    Bonati MT, Baldoli C, Taurino J, Marchetti D, Larizza L, Finelli P, Iascone M.
    Genes (Basel); 2024 Sep 10; 15(9):. PubMed ID: 39336781
    [Abstract] [Full Text] [Related]

  • 7. Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly.
    Miremberg H, Birnbaum R, Trigubov D, Botvinik A, Yaron Y, Mory A, Malinger G, Haratz KK.
    Prenat Diagn; 2024 Nov 10; 44(12):1518-1521. PubMed ID: 39367534
    [Abstract] [Full Text] [Related]

  • 8. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
    Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG, DDD Study, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM.
    Hum Mol Genet; 2016 Jun 01; 25(11):2158-2167. PubMed ID: 27005418
    [Abstract] [Full Text] [Related]

  • 9. Pure Hereditary Spastic Paraplegia in a Patient With a Novel Heterozygous KIDINS220 Gene Mutation.
    Al Hussein HS, Guerra LM, Raza SA, Javalkar V, Raza M.
    Cureus; 2024 Jul 01; 16(7):e64023. PubMed ID: 39109120
    [Abstract] [Full Text] [Related]

  • 10. Kidins220 deficiency causes ventriculomegaly via SNX27-retromer-dependent AQP4 degradation.
    Del Puerto A, Pose-Utrilla J, Simón-García A, López-Menéndez C, Jiménez AJ, Porlan E, Pajuelo LSM, Cano-García G, Martí-Prado B, Sebastián-Serrano Á, Sánchez-Carralero MP, Cesca F, Schiavo G, Ferrer I, Fariñas I, Campanero MR, Iglesias T.
    Mol Psychiatry; 2021 Nov 01; 26(11):6411-6426. PubMed ID: 34002021
    [Abstract] [Full Text] [Related]

  • 11. SINO Syndrome Causative KIDINS220/ARMS Gene Regulates Adipocyte Differentiation.
    Zhang K, Sun W, Liu Y, Lv Y, Hou D, Lin Y, Xu W, Zhao J, Gai Z, Zhao S, Yuan Y.
    Front Cell Dev Biol; 2021 Nov 01; 9():619475. PubMed ID: 33763417
    [Abstract] [Full Text] [Related]

  • 12. Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
    Zhao M, Chen YJ, Wang MW, Lin XH, Dong EL, Chen WJ, Wang N, Lin X.
    Mol Diagn Ther; 2019 Dec 01; 23(6):781-789. PubMed ID: 31630374
    [Abstract] [Full Text] [Related]

  • 13. TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.
    Jacquemin V, Antoine M, Duerinckx S, Massart A, Desir J, Perazzolo C, Cassart M, Thomas D, Segers V, Lecomte S, Abramowicz M, Pirson I.
    Hum Mol Genet; 2021 Feb 04; 29(23):3757-3764. PubMed ID: 33205811
    [Abstract] [Full Text] [Related]

  • 14. Outcome of fetuses with prenatal diagnosis of isolated severe bilateral ventriculomegaly: systematic review and meta-analysis.
    Carta S, Kaelin Agten A, Belcaro C, Bhide A.
    Ultrasound Obstet Gynecol; 2018 Aug 04; 52(2):165-173. PubMed ID: 29484752
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  • 16. Role of prenatal magnetic resonance imaging in fetuses with isolated severe ventriculomegaly at neurosonography: A multicenter study.
    Di Mascio D, Khalil A, Pilu G, Rizzo G, Caulo M, Liberati M, Giancotti A, Lees C, Volpe P, Buca D, Oronzi L, D'Amico A, Tinari S, Stampalija T, Fantasia I, Pasquini L, Masini G, Brunelli R, D'Ambrosio V, Muzii L, Manganaro L, Antonelli A, Ercolani G, Ciulla S, Saccone G, Maruotti GM, Carbone L, Zullo F, Olivieri C, Ghi T, Frusca T, Dall'Asta A, Visentin S, Cosmi E, Forlani F, Galindo A, Villalain C, Herraiz I, Sileo FG, Mendez Quintero O, Salsi G, Bracalente G, Morales-Roselló J, Loscalzo G, Pellegrino M, De Santis M, Lanzone A, Parazzini C, Lanna M, Ormitti F, Toni F, Murru F, Di Maurizio M, Trincia E, Garcia R, Bennike Bjørn Petersen O, Neerup L, Sandager P, Prefumo F, Pinelli L, Mappa I, Acuti Martellucci C, Flacco ME, Manzoli L, Giangiordano I, Nappi L, Scambia G, Berghella V, D'Antonio F.
    Eur J Obstet Gynecol Reprod Biol; 2021 Dec 04; 267():105-110. PubMed ID: 34773875
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  • 19. Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3-q44 deletion in a fetus associated with ventriculomegaly on prenatal ultrasound.
    Chen CP, Ko TM, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Chen WL, Wang W.
    Taiwan J Obstet Gynecol; 2020 Jul 04; 59(4):598-603. PubMed ID: 32653137
    [Abstract] [Full Text] [Related]

  • 20. Neurodevelopmental outcome of 31 patients with borderline fetal ventriculomegaly.
    Tatlı B, Özer I, Ekici B, Kalelioğlu I, Has R, Eraslan E, Yüksel A.
    Clin Neurol Neurosurg; 2012 Sep 04; 114(7):969-71. PubMed ID: 22405543
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