Literature DB >> 16642368

A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly.

Michella Ghassibé1, Vincent Bernier, Laurence M Boon, Miikka Vikkula.   

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Year:  2006        PMID： 16642368     DOI： 10.1007/s00431-006-0138-8

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  7 in total

1.  Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.

Authors:  Sixto Garcia-Miñaur; Lampros A Mavrogiannis; Sahan V Rannan-Eliya; Michael A Hendry; William A Liston; Mary E M Porteous; Andrew O M Wilkie
Journal:  Eur J Hum Genet       Date:  2003-11       Impact factor: 4.246

2.  Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family.

Authors:  S Preis; V Engelbrecht; H G Lenard
Journal:  Acta Paediatr       Date:  1995-06       Impact factor: 2.299

3.  Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.

Authors:  A O Wilkie; Z Tang; N Elanko; S Walsh; S R Twigg; J A Hurst; S A Wall; K H Chrzanowska; R E Maxson
Journal:  Nat Genet       Date:  2000-04       Impact factor: 38.330

4.  Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

Authors:  L A Mavrogiannis; I Antonopoulou; A Baxová; S Kutílek; C A Kim; S M Sugayama; A Salamanca; S A Wall; G M Morriss-Kay; A O Wilkie
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330

5.  Enlarged parietal foramina: association with cerebral venous and cortical anomalies.

Authors:  A T Reddy; G L Hedlund; A K Percy
Journal:  Neurology       Date:  2000-03-14       Impact factor: 9.910

6.  Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Authors:  Lampros A Mavrogiannis; Indira B Taylor; Sally J Davies; Feliciano J Ramos; José L Olivares; Andrew O M Wilkie
Journal:  Eur J Hum Genet       Date:  2006-02       Impact factor: 4.246

7.  Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.

Authors:  W Wuyts; W Reardon; S Preis; T Homfray; A Rasore-Quartino; H Christians; P J Willems; W Van Hul
Journal:  Hum Mol Genet       Date:  2000-05-01       Impact factor: 6.150
  7 in total
  1 in total

Review 1.  Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment.

Authors:  Christoph J Griessenauer; Philip Veith; Martin M Mortazavi; Carrie Stewart; Angela Grochowsky; Marios Loukas; R Shane Tubbs
Journal:  Childs Nerv Syst       Date:  2012-12-04       Impact factor: 1.475
  1 in total

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