Similar articles for PMID: 11857108

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1

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

Neitzel H, Neumann LM, Schindler D, Wirges A, Tönnies H, Trimborn M, Krebsova A, Richter R, Sperling K. Neitzel H, et al. Am J Hum Genet. 2002 Apr;70(4):1015-22. doi: 10.1086/339518. Epub 2002 Feb 20. Am J Hum Genet. 2002. PMID: 11857108 Free PMC article.

2

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.

Marchal JA, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, Sternberg N, Busche A, Krawitz P, Hecht J, Robinson P, Mundlos S, Graul-Neumann L, Sperling K, Trimborn M, Neitzel H. Marchal JA, et al. Cell Cycle. 2011 Sep 1;10(17):2967-77. doi: 10.4161/cc.10.17.16871. Epub 2011 Sep 1. Cell Cycle. 2011. PMID: 21857152

3

Ichthyosiform eruption in a patient with Dubowitz syndrome.

Kato T, Komatsu H, Sakakibara A, Tagami H. Kato T, et al. Pediatr Dermatol. 1995 Jun;12(2):130-3. doi: 10.1111/j.1525-1470.1995.tb00138.x. Pediatr Dermatol. 1995. PMID: 7659638

4

A new chromosome instability disorder.

Maraschio P, Peretti D, Lambiase S, Lo Curto F, Caufin D, Gargantini L, Minoli L, Zuffardi O. Maraschio P, et al. Clin Genet. 1986 Nov;30(5):353-65. doi: 10.1111/j.1399-0004.1986.tb01892.x. Clin Genet. 1986. PMID: 3802554

5

[Familial Pitt-Rogers-Danks: two new cases].

Cabrera López JC, Marti Herrero M, Fernández Burriel M, Toledo L, de Andrés-Cofiño R, Orera MA. Cabrera López JC, et al. Rev Neurol. 2001 Sep 1-15;33(5):439-43. Rev Neurol. 2001. PMID: 11727212 Free article. Review. Spanish.

6

A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.

Børglum AD, Balslev T, Haagerup A, Birkebaek N, Binderup H, Kruse TA, Hertz JM. Børglum AD, et al. Eur J Hum Genet. 2001 Oct;9(10):753-7. doi: 10.1038/sj.ejhg.5200701. Eur J Hum Genet. 2001. PMID: 11781686

7

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

Vinkler C, Leshinsky-Silver E, Michelson M, Haas D, Lerman-Sagie T, Lev D. Vinkler C, et al. Eur J Med Genet. 2014 May-Jun;57(6):288-92. doi: 10.1016/j.ejmg.2014.03.010. Epub 2014 Apr 5. Eur J Med Genet. 2014. PMID: 24709618

8

Protein-truncating mutations in ASPM cause variable reduction in brain size.

Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG. Bond J, et al. Am J Hum Genet. 2003 Nov;73(5):1170-7. doi: 10.1086/379085. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574646 Free PMC article.

9

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P. Hussain MS, et al. Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439729 Free PMC article.

10

Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?

Kondoh T, Yamamoto T, Kono Y, Matsumoto T, Sugawara H, Matsumoto N, Moriuchi H. Kondoh T, et al. Am J Med Genet. 2001 Jul 22;102(1):63-7. doi: 10.1002/1096-8628(20010722)102:1<63::aid-ajmg1415>3.0.co;2-u. Am J Med Genet. 2001. PMID: 11471174

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