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 *

157 related articles for article (PubMed ID: 23706772)

  • 21. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
    de Munnik SA; Bicknell LS; Aftimos S; Al-Aama JY; van Bever Y; Bober MB; Clayton-Smith J; Edrees AY; Feingold M; Fryer A; van Hagen JM; Hennekam RC; Jansweijer MC; Johnson D; Kant SG; Opitz JM; Ramadevi AR; Reardon W; Ross A; Sarda P; Schrander-Stumpel CT; Schoots J; Temple IK; Terhal PA; Toutain A; Wise CA; Wright M; Skidmore DL; Samuels ME; Hoefsloot LH; Knoers NV; Brunner HG; Jackson AP; Bongers EM
    Eur J Hum Genet; 2012 Jun; 20(6):598-606. PubMed ID: 22333897
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Meier-Gorlin syndrome.
    de Munnik SA; Hoefsloot EH; Roukema J; Schoots J; Knoers NV; Brunner HG; Jackson AP; Bongers EM
    Orphanet J Rare Dis; 2015 Sep; 10():114. PubMed ID: 26381604
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome).
    Boles RG; Teebi AS; Schwartz D; Harper JF
    Clin Dysmorphol; 1994 Jul; 3(3):207-14. PubMed ID: 7981855
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage - coincidental finding or new feature of known syndrome?
    Vojtková J; Čiljaková M; Jeseňák M; Bánovčin P
    Endokrynol Pol; 2019; 70(5):457-459. PubMed ID: 31274184
    [No Abstract]   [Full Text] [Related]  

  • 25. Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast.
    Sanchez JC; Kwan EX; Pohl TJ; Amemiya HM; Raghuraman MK; Brewer BJ
    PLoS Genet; 2017 Oct; 13(10):e1007041. PubMed ID: 29036220
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Humanized
    Balasov M; Akhmetova K; Chesnokov I
    Genetics; 2020 Dec; 216(4):995-1007. PubMed ID: 33037049
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Left cerebral hemisphere and ventricular system abnormalities in a Mexican Meier Gorlin syndrome patient: widening the clinical spectrum.
    Martínez-Barrera LE; García-Delgado C; Manzano-Sierra C; Morán-Barroso VF
    Genet Couns; 2014; 25(2):189-95. PubMed ID: 25059018
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
    McQuaid ME; Ahmed K; Tran S; Rousseau J; Shaheen R; Kernohan KD; Yuki KE; Grover P; Dreseris ES; Ahmed S; Dupuis L; Stimec J; Shago M; Al-Hassnan ZN; Tremblay R; Maass PG; Wilson MD; Grunebaum E; Boycott KM; Boisvert FM; Maddirevula S; Faqeih EA; Almanjomi F; Khan ZU; Alkuraya FS; Campeau PM; Kannu P; Campos EI; Wurtele H
    JCI Insight; 2022 May; 7(10):. PubMed ID: 35603789
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.
    Hu X; Wu D; Li Y; Wei L; Li X; Qin M; Li H; Li M; Chen S; Gong C; Shen Y
    BMC Med Genomics; 2020 Dec; 13(1):181. PubMed ID: 33276791
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The origin recognition complex in human diseases.
    Shen Z
    Biosci Rep; 2013 Jun; 33(3):. PubMed ID: 23662735
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.
    Shalev SA; Khayat M; Etty DS; Elpeleg O
    Am J Med Genet A; 2015 Mar; 167A(3):607-11. PubMed ID: 25691413
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Meier-Gorlin syndrome.
    Feingold M
    Am J Med Genet; 2002 May; 109(4):338. PubMed ID: 11992493
    [No Abstract]   [Full Text] [Related]  

  • 33. A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.
    Knapp KM; Fellows B; Aggarwal S; Dalal A; Bicknell LS
    Eur J Med Genet; 2021 Apr; 64(4):104182. PubMed ID: 33639314
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant.
    Mehrjoo Y; Campeau PM; Al Abdi L; Aldowaish A; Abouyousef O; Alkuraya FS; Codina-Solà M; Cueto-González AM; Wurtele H
    Clin Genet; 2024 Sep; 106(3):342-346. PubMed ID: 38773883
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
    Okamoto N; Ohmachi K; Shimada S; Shimojima K; Yamamoto T
    Am J Med Genet A; 2013 Jun; 161A(6):1465-9. PubMed ID: 23637096
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs.
    Loeys BL; Lemmerling MM; Van Mol CE; Leroy JG
    Am J Med Genet; 1999 May; 84(1):61-7. PubMed ID: 10213048
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
    Nielsen-Dandoroff E; Ruegg MSG; Bicknell LS
    Eur J Hum Genet; 2023 Aug; 31(8):859-868. PubMed ID: 37059840
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Cdt1 variants reveal unanticipated aspects of interactions with cyclin/CDK and MCM important for normal genome replication.
    Pozo PN; Matson JP; Cole Y; Kedziora KM; Grant GD; Temple B; Cook JG
    Mol Biol Cell; 2018 Dec; 29(25):2989-3002. PubMed ID: 30281379
    [TBL] [Abstract][Full Text] [Related]  

  • 39. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
    Burrage LC; Charng WL; Eldomery MK; Willer JR; Davis EE; Lugtenberg D; Zhu W; Leduc MS; Akdemir ZC; Azamian M; Zapata G; Hernandez PP; Schoots J; de Munnik SA; Roepman R; Pearring JN; Jhangiani S; Katsanis N; Vissers LE; Brunner HG; Beaudet AL; Rosenfeld JA; Muzny DM; Gibbs RA; Eng CM; Xia F; Lalani SR; Lupski JR; Bongers EM; Yang Y
    Am J Hum Genet; 2015 Dec; 97(6):904-13. PubMed ID: 26637980
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.
    Ting CY; Bhatia NS; Lim JY; Goh CJ; Vasanwala RF; Ong CC; Seow WT; Yeow VK; Ting TW; Ng IS; Jamuar SS
    Eur J Med Genet; 2020 Feb; 63(2):103652. PubMed ID: 30986546
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.