Boston type craniosynostosis: report of a second mutation in MSX2. (Q55057321)

16 June 2018

title

Boston type craniosynostosis: report of a second mutation in MSX2. (English)

1 reference

16 June 2018

0 references

Joyce M G Florisson

1 reference

16 June 2018

Annemieke J M H Verkerk

1 reference

16 June 2018

Daphne Huigh

1 reference

16 June 2018

A Jeannette M Hoogeboom

1 reference

16 June 2018

Sigrid Swagemakers

1 reference

16 June 2018

Andreas Kremer

1 reference

16 June 2018

Daphne Heijsman

1 reference

16 June 2018

Maarten H Lequin

1 reference

16 June 2018

Irene M J Mathijssen

1 reference

16 June 2018

Peter J van der Spek

1 reference

16 June 2018

language of work or name

English

0 references

publication date

15 August 2013

1 reference

16 June 2018

American Journal of Medical Genetics

published in

1 reference

16 June 2018

volume

161A

1 reference

16 June 2018

issue

1 reference

16 June 2018

page(s)

2626-2633

1 reference

16 June 2018

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Buschke-Ollendorff syndrome: A manifestation of a heterozygous nonsense mutation in the LEMD3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Allegro, a new computer program for multipoint linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Buschke-Ollendorff syndrome: a 32-month-old boy with elastomas and craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Newly recognized autosomal dominant disorder with craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

Osteopoikilosis: what does the rheumatologist must know about it?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

A novel mutation in theMSX2 gene in a family with foramina parietalia permagna (FPP)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36126

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36126

1 reference

16 June 2018

1 reference

16 June 2018