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PUBMED FOR HANDHELDS

Journal Abstract Search


131 related items for PubMed ID: 25899944

  • 21. Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
    Ben Ayed I, Bouchaala W, Bouzid A, Feki W, Souissi A, Ben Nsir S, Ben Said M, Sammouda T, Majdoub F, Kharrat I, Kamoun F, Elloumi I, Kamoun H, Tlili A, Masmoudi S, Triki C.
    Eur J Med Genet; 2021 Dec; 64(12):104373. PubMed ID: 34737153
    [Abstract] [Full Text] [Related]

  • 22. A new association between CDK5RAP2 microcephaly and congenital cataracts.
    Alfares A, Alhufayti I, Alsubaie L, Alowain M, Almass R, Alfadhel M, Kaya N, Eyaid W.
    Ann Hum Genet; 2018 May; 82(3):165-170. PubMed ID: 29271474
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  • 24. Autosomal recessive primary microcephalies (MCPH).
    Kaindl AM.
    Eur J Paediatr Neurol; 2014 Jul; 18(4):547-8. PubMed ID: 24780602
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  • 27. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
    Kumar A, Girimaji SC, Duvvari MR, Blanton SH.
    Am J Hum Genet; 2009 Feb; 84(2):286-90. PubMed ID: 19215732
    [Abstract] [Full Text] [Related]

  • 28. Novel alternatively spliced variant form of human CDK5RAP2.
    Kim T, Park JS, Lee P, Jin Y, Fu SB, Rosales JL, Lee KY.
    Cell Cycle; 2011 Mar 15; 10(6):1010-2. PubMed ID: 21346412
    [No Abstract] [Full Text] [Related]

  • 29. Species-Specific Expression of Full-Length and Alternatively Spliced Variant Forms of CDK5RAP2.
    Park JS, Lee MK, Kang S, Jin Y, Fu S, Rosales JL, Lee KY.
    PLoS One; 2015 Mar 15; 10(11):e0142577. PubMed ID: 26550838
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  • 30. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
    Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL, Deciphering Developmental Disorders Study, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y.
    Am J Hum Genet; 2017 Oct 05; 101(4):503-515. PubMed ID: 28942966
    [Abstract] [Full Text] [Related]

  • 31. Primary microcephaly: do all roads lead to Rome?
    Thornton GK, Woods CG.
    Trends Genet; 2009 Nov 05; 25(11):501-10. PubMed ID: 19850369
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  • 32. Role of insulin-like growth factors in growth, development and feeding.
    Wit JM, Walenkamp MJ.
    World Rev Nutr Diet; 2013 Nov 05; 106():60-5. PubMed ID: 23428682
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  • 34. Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
    Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL.
    Am J Hum Genet; 2019 Jan 03; 104(1):179-185. PubMed ID: 30595371
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  • 35. Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
    Tan CA, del Gaudio D, Dempsey MA, Arndt K, Botes S, Reeder A, Das S.
    Clin Genet; 2014 Apr 03; 85(4):353-8. PubMed ID: 23611254
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  • 36. Compound heterozygous ASPM mutations in Pakistani MCPH families.
    Muhammad F, Mahmood Baig S, Hansen L, Sajid Hussain M, Anjum Inayat I, Aslam M, Anver Qureshi J, Toilat M, Kirst E, Wajid M, Nürnberg P, Eiberg H, Tommerup N, Kjaer KW.
    Am J Med Genet A; 2009 May 03; 149A(5):926-30. PubMed ID: 19353628
    [Abstract] [Full Text] [Related]

  • 37. A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.
    Ghafouri-Fard S, Fardaei M, Gholami M, Miryounesi M.
    Gene; 2015 Oct 15; 571(1):149-50. PubMed ID: 26192461
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  • 38. Proteome changes in autosomal recessive primary microcephaly.
    Zaqout S, Mannaa A, Klein O, Krajewski A, Klose J, Luise-Becker L, Elsabagh A, Ferih K, Kraemer N, Ravindran E, Makridis K, Kaindl AM.
    Ann Hum Genet; 2023 Mar 15; 87(1-2):50-62. PubMed ID: 36448252
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  • 39. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
    Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS.
    Ann Neurol; 2017 Oct 15; 82(4):562-577. PubMed ID: 28892560
    [Abstract] [Full Text] [Related]

  • 40. Many roads lead to primary autosomal recessive microcephaly.
    Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P.
    Prog Neurobiol; 2010 Mar 15; 90(3):363-83. PubMed ID: 19931588
    [Abstract] [Full Text] [Related]


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