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Items: 1 to 20 of 22

1.

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 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006.

2.

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 17;10:114. doi: 10.1186/s13023-015-0322-x. Review.

3.

Primordial dwarfism: overview of clinical and genetic aspects.

Khetarpal P, Das S, Panigrahi I, Munshi A.

Mol Genet Genomics. 2016 Feb;291(1):1-15. doi: 10.1007/s00438-015-1110-y. Epub 2015 Sep 1. Review.

PMID:
26323792
4.

Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6.

Balasov M, Akhmetova K, Chesnokov I.

Am J Med Genet A. 2015 Nov;167A(11):2533-40. doi: 10.1002/ajmg.a.37214. Epub 2015 Jul 2.

PMID:
26139588
5.

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. doi: 10.1002/ajmg.a.36906.

PMID:
25691413
6.

A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.

Zhang W, Sankaran S, Gozani O, Song J.

ACS Chem Biol. 2015 May 15;10(5):1176-80. doi: 10.1021/cb5009684. Epub 2015 Feb 24.

7.

Molecular and cellular basis of autosomal recessive primary microcephaly.

Barbelanne M, Tsang WY.

Biomed Res Int. 2014;2014:547986. doi: 10.1155/2014/547986. Epub 2014 Dec 8. Review.

8.

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.

PMID:
25059018
9.

A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation.

Bleichert F, Balasov M, Chesnokov I, Nogales E, Botchan MR, Berger JM.

Elife. 2013 Oct 8;2:e00882. doi: 10.7554/eLife.00882.

10.

Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.

Kerzendorfer C, Colnaghi R, Abramowicz I, Carpenter G, O'Driscoll M.

DNA Repair (Amst). 2013 Aug;12(8):637-44. doi: 10.1016/j.dnarep.2013.04.016. Epub 2013 May 23.

PMID:
23706772
11.

The origin recognition complex in human diseases.

Shen Z.

Biosci Rep. 2013 Jun 11;33(3). pii: e00044. doi: 10.1042/BSR20130036. Review.

12.

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.

Stiff T, Alagoz M, Alcantara D, Outwin E, Brunner HG, Bongers EM, O'Driscoll M, Jeggo PA.

PLoS Genet. 2013;9(3):e1003360. doi: 10.1371/journal.pgen.1003360. Epub 2013 Mar 14.

13.

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AM, O'Driscoll M, Jeggo PA.

PLoS Genet. 2012;8(11):e1002945. doi: 10.1371/journal.pgen.1002945. Epub 2012 Nov 8.

14.

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, 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, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM.

Am J Med Genet A. 2012 Nov;158A(11):2733-42. doi: 10.1002/ajmg.a.35681. Epub 2012 Sep 28.

PMID:
23023959
15.

Dormant origins, the licensing checkpoint, and the response to replicative stresses.

McIntosh D, Blow JJ.

Cold Spring Harb Perspect Biol. 2012 Oct 1;4(10). pii: a012955. doi: 10.1101/cshperspect.a012955. Review.

16.

Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.

Hossain M, Stillman B.

Genes Dev. 2012 Aug 15;26(16):1797-810. doi: 10.1101/gad.197178.112. Epub 2012 Aug 1.

17.

The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome.

Kuo AJ, Song J, Cheung P, Ishibe-Murakami S, Yamazoe S, Chen JK, Patel DJ, Gozani O.

Nature. 2012 Mar 7;484(7392):115-9. doi: 10.1038/nature10956.

18.

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. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15.

19.

Mechanisms and pathways of growth failure in primordial dwarfism.

Klingseisen A, Jackson AP.

Genes Dev. 2011 Oct 1;25(19):2011-24. doi: 10.1101/gad.169037. Review.

20.

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 27;43(4):350-5. doi: 10.1038/ng.776.

PMID:
21358633
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