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 *

245 related articles for article (PubMed ID: 28832566)

  • 21. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
    Bicknell LS; Walker S; Klingseisen A; Stiff T; Leitch A; Kerzendorfer C; Martin CA; Yeyati P; Al Sanna N; Bober M; Johnson D; Wise C; Jackson AP; O'Driscoll M; Jeggo PA
    Nat Genet; 2011 Feb; 43(4):350-5. PubMed ID: 21358633
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Plk4 trans-autophosphorylation regulates centriole number by controlling betaTrCP-mediated degradation.
    Guderian G; Westendorf J; Uldschmid A; Nigg EA
    J Cell Sci; 2010 Jul; 123(Pt 13):2163-9. PubMed ID: 20516151
    [TBL] [Abstract][Full Text] [Related]  

  • 23. CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination.
    Marjanović M; Sánchez-Huertas C; Terré B; Gómez R; Scheel JF; Pacheco S; Knobel PA; Martínez-Marchal A; Aivio S; Palenzuela L; Wolfrum U; McKinnon PJ; Suja JA; Roig I; Costanzo V; Lüders J; Stracker TH
    Nat Commun; 2015 Jul; 6():7676. PubMed ID: 26158450
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
    Yadav N; Kirola L; Geetha TS; Mittal K; Kadandale J; Yogev Y; Birk OS; Gupta N; Balakrishnan P; Jana M; Gupta M; Kabra M; Thelma BK
    Ann Hum Genet; 2022 Sep; 86(5):245-256. PubMed ID: 35451063
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A case of Seckel syndrome with tricuspid atresia.
    Arslan D; Cimen D; Guvenc O; Sert A; Oktay A; Oran B
    Genet Couns; 2014; 25(2):171-5. PubMed ID: 25059015
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
    Willems M; Geneviève D; Borck G; Baumann C; Baujat G; Bieth E; Edery P; Farra C; Gerard M; Héron D; Leheup B; Le Merrer M; Lyonnet S; Martin-Coignard D; Mathieu M; Thauvin-Robinet C; Verloes A; Colleaux L; Munnich A; Cormier-Daire V
    J Med Genet; 2010 Dec; 47(12):797-802. PubMed ID: 19643772
    [TBL] [Abstract][Full Text] [Related]  

  • 27. RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
    Shamseldin H; Alazami AM; Manning M; Hashem A; Caluseiu O; Tabarki B; Esplin E; Schelley S; Innes AM; Parboosingh JS; Lamont R; ; Majewski J; Bernier FP; Alkuraya FS
    Am J Hum Genet; 2015 Dec; 97(6):862-8. PubMed ID: 26608784
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Genetics. Dwarfism, where pericentrin gains stature.
    Delaval B; Doxsey S
    Science; 2008 Feb; 319(5864):732-3. PubMed ID: 18258883
    [No Abstract]   [Full Text] [Related]  

  • 29. Novel CENPJ mutation causes Seckel syndrome.
    Al-Dosari MS; Shaheen R; Colak D; Alkuraya FS
    J Med Genet; 2010 Jun; 47(6):411-4. PubMed ID: 20522431
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Microcephalic osteodysplastic dwarfism (type II-like) in siblings.
    Verloes A; Lambrechts L; Senterre J; Lambotte C
    Clin Genet; 1987 Aug; 32(2):88-94. PubMed ID: 3652495
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
    Ravindran E; Jühlen R; Vieira-Vieira CH; Ha T; Salzberg Y; Fichtman B; Luise-Becker L; Martins N; Picker-Minh S; Bessa P; Arts P; Jackson MR; Taranath A; Kamien B; Barnett C; Li N; Tarabykin V; Stoltenburg-Didinger G; Harel A; Selbach M; Dickmanns A; Fahrenkrog B; Hu H; Scott H; Kaindl AM
    Hum Mol Genet; 2021 Nov; 30(22):2068-2081. PubMed ID: 34170319
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.
    Courtens W; Speleman F; Messiaen L; Bormans J; Van Roy N; Vamos E
    Am J Med Genet; 1997 Sep; 71(4):479-85. PubMed ID: 9286460
    [TBL] [Abstract][Full Text] [Related]  

  • 33. PLK4 trans-Autoactivation Controls Centriole Biogenesis in Space.
    Lopes CA; Jana SC; Cunha-Ferreira I; Zitouni S; Bento I; Duarte P; Gilberto S; Freixo F; Guerrero A; Francia M; Lince-Faria M; Carneiro J; Bettencourt-Dias M
    Dev Cell; 2015 Oct; 35(2):222-35. PubMed ID: 26481051
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Expression Analyses of Polo-Like Kinase 4, a Gene Product Responsible for Autosomal Recessive Microcephaly and Seckel Syndrome, during Mouse Brain Development.
    Hamada N; Iwamoto I; Noda M; Nishikawa M; Nagata KI
    Dev Neurosci; 2022; 44(6):643-650. PubMed ID: 36067731
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
    Griffith E; Walker S; Martin CA; Vagnarelli P; Stiff T; Vernay B; Al Sanna N; Saggar A; Hamel B; Earnshaw WC; Jeggo PA; Jackson AP; O'Driscoll M
    Nat Genet; 2008 Feb; 40(2):232-6. PubMed ID: 18157127
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and genetic heterogeneity of Seckel syndrome.
    Faivre L; Le Merrer M; Lyonnet S; Plauchu H; Dagoneau N; Campos-Xavier AB; Attia-Sobol J; Verloes A; Munnich A; Cormier-Daire V
    Am J Med Genet; 2002 Nov; 112(4):379-83. PubMed ID: 12376940
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
    O'Driscoll M; Dobyns WB; van Hagen JM; Jeggo PA
    Am J Hum Genet; 2007 Jul; 81(1):77-86. PubMed ID: 17564965
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Modifier Genes in Microcephaly: A Report on
    Makhdoom EUH; Waseem SS; Iqbal M; Abdullah U; Hussain G; Asif M; Budde B; Höhne W; Tinschert S; Saadi SM; Yousaf H; Ali Z; Fatima A; Kaygusuz E; Khan A; Jameel M; Khan S; Tariq M; Anjum I; Altmüller J; Thiele H; Höning S; Baig SM; Nürnberg P; Hussain MS
    Genes (Basel); 2021 May; 12(5):. PubMed ID: 34068194
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Seckel syndrome with chromosomal 18 deletion.
    Panigrahi I; Kaur S; Kulkarni K; Das R; Marwaha RK
    Indian J Pediatr; 2009 Dec; 76(12):1270-1. PubMed ID: 20012807
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
    Marakhonov AV; Konovalov FA; Makaov AK; Vasilyeva TA; Kadyshev VV; Galkina VA; Dadali EL; Kutsev SI; Zinchenko RA
    BMC Med Genomics; 2018 Feb; 11(Suppl 1):8. PubMed ID: 29504900
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.