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Items: 1 to 20 of 100

1.

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.

2.

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
3.

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. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29.

4.

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.

5.

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.

6.

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A.

Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3.

7.

Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.

Li FF, Wang XD, Zhu MW, Lou ZH, Zhang Q, Zhu CY, Feng HL, Lin ZG, Liu SL.

Metab Brain Dis. 2015 Dec;30(6):1387-94. doi: 10.1007/s11011-015-9712-y. Epub 2015 Aug 1.

PMID:
26231886
8.

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.

Unal S, Alanay Y, Cetin M, Boduroglu K, Utine E, Cormier-Daire V, Huber C, Ozsurekci Y, Kilic E, Simsek Kiper OP, Gumruk F.

Pediatr Blood Cancer. 2014 Feb;61(2):302-5. doi: 10.1002/pbc.24783. Epub 2013 Sep 17.

PMID:
24106199
9.

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.

10.

[Differential diagnostic considerations in microcephalic dwarfism].

Kraft CN, Diedrich O, Wagner U, Schmitt O.

Z Orthop Ihre Grenzgeb. 2000 Mar-Apr;138(2):126-30. German.

PMID:
10820877
11.

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
12.

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP.

Am J Med Genet A. 2012 Nov;158A(11):2719-25. doi: 10.1002/ajmg.a.35447. Epub 2012 Jul 20.

PMID:
22821869
13.

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

Abdel-Salam GM, Abdel-Hamid MS, Issa M, Magdy A, El-Kotoury A, Amr K.

Am J Med Genet A. 2012 Jun;158A(6):1455-61. doi: 10.1002/ajmg.a.35356. Epub 2012 May 11.

PMID:
22581640
14.

A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.

Pachajoa H, Ruiz-Botero F, Isaza C.

J Med Case Rep. 2014 Jun 13;8:191. doi: 10.1186/1752-1947-8-191.

15.
16.

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N.

Am J Med Genet A. 2011 Nov;155A(11):2885-96. doi: 10.1002/ajmg.a.34299. Epub 2011 Oct 11.

PMID:
21990275
17.

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
18.

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA.

Clin Genet. 2012 Aug;82(2):140-6. doi: 10.1111/j.1399-0004.2011.01756.x. Epub 2011 Aug 28.

19.

The smallest of the small.

Hall JG.

Gene. 2013 Oct 1;528(1):55-7. doi: 10.1016/j.gene.2013.03.081. Epub 2013 Apr 10.

PMID:
23583796
20.

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

Dieks JK, Baumer A, Wilichowski E, Rauch A, Sigler M.

Eur J Pediatr. 2014 Sep;173(9):1253-6. doi: 10.1007/s00431-014-2368-5. Epub 2014 Jun 29.

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