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Journal Abstract Search

149 related items for PubMed ID: 28901661

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  • 3. A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
    Szczepanski S, Hussain MS, Sur I, Altmüller J, Thiele H, Abdullah U, Waseem SS, Moawia A, Nürnberg G, Noegel AA, Baig SM, Nürnberg P.
    Hum Genet; 2016 Feb; 135(2):157-70. PubMed ID: 26621532
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  • 4. A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.
    Fellows BJ, Tolezano GC, Pires SF, Ruegg MSG, Knapp KM, Krepischi ACV, Bicknell LS.
    Am J Med Genet A; 2024 Mar; 194(3):e63468. PubMed ID: 37937525
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  • 6. What primary microcephaly can tell us about brain growth.
    Cox J, Jackson AP, Bond J, Woods CG.
    Trends Mol Med; 2006 Aug; 12(8):358-66. PubMed ID: 16829198
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  • 11. Kinetochore Malfunction in Human Pathologies.
    de Wolf B, Kops GJPL.
    Adv Exp Med Biol; 2017 Aug; 1002():69-91. PubMed ID: 28600783
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  • 12. Molecular and cellular basis of autosomal recessive primary microcephaly.
    Barbelanne M, Tsang WY.
    Biomed Res Int; 2014 Aug; 2014():547986. PubMed ID: 25548773
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  • 13. Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
    Naveed M, Kazmi SK, Amin M, Asif Z, Islam U, Shahid K, Tehreem S.
    Genet Res (Camb); 2018 Aug 08; 100():e7. PubMed ID: 30086807
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  • 16. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
    Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME.
    Am J Hum Genet; 2010 Jul 09; 87(1):40-51. PubMed ID: 20598275
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  • 19. Molecular genetics of human primary microcephaly: an overview.
    Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, Pushparaj P, Ahmed F, Algahtani HA, Al-Qahtani MH, Saleh Jamal H.
    BMC Med Genomics; 2015 Jul 09; 8 Suppl 1(Suppl 1):S4. PubMed ID: 25951892
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  • 20. PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation.
    Miyamoto T, Akutsu SN, Fukumitsu A, Morino H, Masatsuna Y, Hosoba K, Kawakami H, Yamamoto T, Shimizu K, Ohashi H, Matsuura S.
    Hum Mol Genet; 2017 Nov 15; 26(22):4429-4440. PubMed ID: 28973348
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