Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
2006 1
2011 1
2012 2
2013 1
2014 1
2015 2
2016 2
2017 3
2018 2
2019 1
2020 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

17 results

Results by year

Filters applied: . Clear all
Page 1
Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies.
Tan AP, Mankad K. Tan AP, et al. Childs Nerv Syst. 2018 Feb;34(2):205-216. doi: 10.1007/s00381-017-3670-0. Epub 2017 Dec 2. Childs Nerv Syst. 2018. PMID: 29198073 Review.
INTRODUCTION: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutations in genes encoding fibroblast growth factor receptor 2 (FGFR2). ...
INTRODUCTION: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutations in genes encoding fibrobl …
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
Agochukwu NB, Solomon BD, Muenke M. Agochukwu NB, et al. Childs Nerv Syst. 2012 Sep;28(9):1447-63. doi: 10.1007/s00381-012-1756-2. Epub 2012 Aug 8. Childs Nerv Syst. 2012. PMID: 22872262 Free PMC article. Review.
A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis. RESULTS: Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual …
A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis. RESULTS: Patients …
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
Hibberd CE, Bowdin S, Arudchelvan Y, Forrest CR, Brakora KA, Marcucio RS, Gong SG. Hibberd CE, et al. Am J Med Genet A. 2016 Dec;170(12):3215-3221. doi: 10.1002/ajmg.a.37862. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27481450 Free PMC article.
We conducted an investigation to determine GIT symptoms in a sample of FGFR-associated craniosynostosis syndrome patients and a mouse model of CS containing a mutation (W290R) in Fgfr2. ...Based on reports of GIT malformations in children with craniosynostosis syndr …
We conducted an investigation to determine GIT symptoms in a sample of FGFR-associated craniosynostosis syndrome patients and …
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.
Agochukwu NB, Solomon BD, Gropman AL, Muenke M. Agochukwu NB, et al. Pediatr Neurol. 2012 Nov;47(5):355-61. doi: 10.1016/j.pediatrneurol.2012.07.004. Pediatr Neurol. 2012. PMID: 23044018 Free PMC article. Review.
Epilepsy, a neurologic disorder characterized by the predisposition to recurrent unprovoked seizures, is reported in more than 300 genetic syndromes. Muenke syndrome is an autosomal-dominant craniosynostosis syndrome characterized by unilateral or bilateral coronal …
Epilepsy, a neurologic disorder characterized by the predisposition to recurrent unprovoked seizures, is reported in more than 300 genetic s …
Phenotypic variability in Muenke syndrome-observations from five Danish families.
Öwall L, Kreiborg S, Dunø M, Hermann NV, Darvann TA, Hove H. Öwall L, et al. Clin Dysmorphol. 2020 Jan;29(1):1-9. doi: 10.1097/MCD.0000000000000300. Clin Dysmorphol. 2020. PMID: 31609728
Muenke syndrome is a craniosynostosis syndrome associated with the p.Pro250Arg mutation in FGFR3. ...
Muenke syndrome is a craniosynostosis syndrome associated with the p.Pro250Arg mutation in FGFR3. ...
Age at initial consultation for craniosynostosis: comparison across different patient characteristics.
Seruya M, Oh AK, Boyajian MJ, Myseros JS, Yaun AL, Keating RF, Rogers GF. Seruya M, et al. J Craniofac Surg. 2013 Jan;24(1):96-8. doi: 10.1097/SCS.0b013e318270fb83. J Craniofac Surg. 2013. PMID: 23348263
Indications included sagittal (n = 96), metopic (n = 39), unicoronal (n = 33), bicoronal (n = 24), multisutural (n = 15), bilambdoidal (n = 3), and unilambdoidal (n = 1) synostoses. Seventeen patients (8.1%) had a craniosynostosis syndrome and 5 (2.4%) had a syndrom …
Indications included sagittal (n = 96), metopic (n = 39), unicoronal (n = 33), bicoronal (n = 24), multisutural (n = 15), bilambdoidal (n = …
Intraoperative and postoperative complications in the surgical treatment of craniosynostosis: minimally invasive versus open surgical procedures.
Arts S, Delye H, van Lindert EJ. Arts S, et al. J Neurosurg Pediatr. 2018 Feb;21(2):112-118. doi: 10.3171/2017.7.PEDS17155. Epub 2017 Nov 24. J Neurosurg Pediatr. 2018. PMID: 29171801
Ninety-three patients were diagnosed with scaphocephaly, 50 with trigonocephaly, 26 with plagiocephaly, 3 with brachycephaly, 9 with a craniosynostosis syndrome, and 6 patients were suffering from nonsyndromic multisutural craniosynostosis. ...
Ninety-three patients were diagnosed with scaphocephaly, 50 with trigonocephaly, 26 with plagiocephaly, 3 with brachycephaly, 9 with a cr …
Obstructive sleep apnea-specific quality of life and behavioral problems in children with syndromic craniosynostosis.
Bannink N, Maliepaard M, Raat H, Joosten KF, Mathijssen IM. Bannink N, et al. J Dev Behav Pediatr. 2011 Apr;32(3):233-8. doi: 10.1097/DBP.0b013e318206d5e3. J Dev Behav Pediatr. 2011. PMID: 21297497
OBJECTIVE: This study aimed at evaluating the impact of syndromic craniosynostosis on quality of life, assessing the association between the presence of craniosynostosis syndrome and prevalence of behavioral problems and assessing the impact of obstructive sleep apn …
OBJECTIVE: This study aimed at evaluating the impact of syndromic craniosynostosis on quality of life, assessing the association between the …
Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.
Korakavi N, Prokop JW, Seaver LH. Korakavi N, et al. Am J Med Genet A. 2019 Apr;179(4):668-673. doi: 10.1002/ajmg.a.61070. Epub 2019 Feb 27. Am J Med Genet A. 2019. PMID: 30811827
In 2011, biallelic loss-of-function variants in the interleukin receptor 11 alpha gene IL11RA were found to be associated with a Crouzon-like craniosynostosis syndrome with associated dental anomalies (CRSDA). Since then, a total of 41 similar patients have been rep …
In 2011, biallelic loss-of-function variants in the interleukin receptor 11 alpha gene IL11RA were found to be associated with a Crouzon-lik …
17 results