(Q38032764)

27 August 2017

title

Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications (English)

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27 August 2017

Marta Barba

3

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author name string

Wanda Lattanzi

1

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27 August 2017

Nenad Bukvic

2

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27 August 2017

Gianpiero Tamburrini

4

1 reference

27 August 2017

Camilla Bernardini

5

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27 August 2017

Fabrizio Michetti

6

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27 August 2017

Concezio Di Rocco

7

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27 August 2017

publication date

8 August 2012

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27 August 2017

published in

Child's Nervous System

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27 August 2017

volume

28

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27 August 2017

issue

9

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27 August 2017

page(s)

1301-1310

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https://scigraph.springernature.com/pub.10.1007/s00381-012-1781-1

27 August 2017

exact match

0 references

cites work

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Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients

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The differential diagnosis of posterior plagiocephaly: true lambdoid synostosis versus positional molding

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Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

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Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.

21 January 2018

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IGF1R variants associated with isolated single suture craniosynostosis

21 January 2018

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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

21 January 2018

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Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

21 January 2018

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Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

21 January 2018

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Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).

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Craniosynostosis associated with partial duplication of 15q and deletion of 2q

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Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors

21 January 2018

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An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly

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Craniosynostosis and fetal exposure to sodium valproate

21 January 2018

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Clinical and genetic aspects of trigonocephaly: A study of 25 cases

21 January 2018

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Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients

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21 January 2018

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21 January 2018

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21 January 2018

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A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

21 January 2018

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Craniosynostosis: another feature of the 22q11.2 deletion syndrome.

21 January 2018

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Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome.

21 January 2018

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21 January 2018

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Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

21 January 2018

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Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region

21 January 2018

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The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted Transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1781-1

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00381-012-1781-1

Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome

21 January 2018

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CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

21 January 2018

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Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis

21 January 2018

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Effectiveness of a limited invasive scalp approach in the correction of sagittal craniosynostosis

21 January 2018

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Long-term neuropsychological development in single-suture craniosynostosis treated early.

21 January 2018

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Trigonocephaly: a new familial syndrome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00381-012-1781-1

Autosomal dominant craniosynostosis of the sutura metopica

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00381-012-1781-1

Autism and hypoplastic corpus callosum in a case of monocentric marker chromosome 15.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00381-012-1781-1

Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00381-012-1781-1

Cleft lip and palate: understanding genetic and environmental influences

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00381-012-1781-1

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00381-012-1781-1

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00381-012-1781-1

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

21 January 2018

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12 December 2020

Perspectives on RUNX genes: an update

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12 December 2020

Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families

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Nosographic identification and classification of plagiocephaly

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12 December 2020

Autosomal dominant craniosynostosis of the sutura metopica

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12 December 2020

The increase of metopic synostosis: a pan-European observation

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12 December 2020

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

1 reference

12 December 2020

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis

1 reference

12 December 2020

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

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12 December 2020

Concordant contralateral lambdoidal synostosis in dizygotic twins

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12 December 2020

Partial craniosynostosis in a patient with deletion 22q11

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12 December 2020

Familial Trigonocephaly Associated With Short Stature and Developmental Delay

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12 December 2020

Letter: Partial trisomy 15 as a result of an unbalanced 12/15 translocation in a patient with a cloverleaf skull anomaly

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12 December 2020

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit

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12 December 2020

Intercalary deletions of 9q

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12 December 2020

10.1007/S00381-012-1781-1

Identifiers

DOI

1 reference

Dimensions Publication ID

27 August 2017

1031089074

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1 reference