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
1985 2
1988 1
1990 1
1991 1
1992 1
1993 4
1994 2
1995 6
1996 3
1997 4
1998 6
1999 3
2000 3
2001 2
2002 1
2003 1
2004 3
2005 5
2006 2
2007 3
2008 3
2009 7
2010 8
2011 6
2012 7
2013 2
2014 2
2015 6
2016 8
2017 9
2018 6
2019 4
2020 4
2021 11
2022 3
2023 7
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

138 results

Results by year

Filters applied: . Clear all
Page 1
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E. Goldmuntz E. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. Am J Med Genet C Semin Med Genet. 2020. PMID: 32049433 Review.
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodeficiency, recu …
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common fe …
Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R. Gavril EC, et al. Genes (Basel). 2023 Feb 11;14(2):465. doi: 10.3390/genes14020465. Genes (Basel). 2023. PMID: 36833393 Free PMC article. Review.
MATERIALS AND METHODS: In this study we analyzed nine newly diagnosed cases with 2q37 deletion (3 male/6 female, aged between 2 and 30 years old), and followed up at the Iasi Regional Medical Genetics Centre. ...Two cases had obesity, one case had craniosynostosis, …
MATERIALS AND METHODS: In this study we analyzed nine newly diagnosed cases with 2q37 deletion (3 male/6 female, aged between 2 and 3 …
Clinical genetics of craniosynostosis.
Wilkie AOM, Johnson D, Wall SA. Wilkie AOM, et al. Curr Opin Pediatr. 2017 Dec;29(6):622-628. doi: 10.1097/MOP.0000000000000542. Curr Opin Pediatr. 2017. PMID: 28914635 Free PMC article. Review.
This review will scope out how recent genetic discoveries from next-generation sequencing have impacted on the clinical genetic evaluation of craniosynostosis. RECENT FINDINGS: Survey of a 13-year birth cohort of patients treated at a single craniofacial unit demonstrates …
This review will scope out how recent genetic discoveries from next-generation sequencing have impacted on the clinical genetic evaluation o …
The State of Technology in Craniosynostosis.
Safran T, Viezel-Mathieu A, Beland B, Azzi AJ, Galli R, Gilardino M. Safran T, et al. J Craniofac Surg. 2018 Jun;29(4):904-907. doi: 10.1097/SCS.0000000000004399. J Craniofac Surg. 2018. PMID: 29498975 Review.
Technologies used for the management of craniofacial conditions, specifically in craniosynostosis, have been advancing dramatically. This article highlights the most recent technological advances in craniosynostosis surgery through a systematic review of the literat …
Technologies used for the management of craniofacial conditions, specifically in craniosynostosis, have been advancing dramatically. …
A review of the management of single-suture craniosynostosis, past, present, and future.
Proctor MR, Meara JG. Proctor MR, et al. J Neurosurg Pediatr. 2019 Dec 1;24(6):622-631. doi: 10.3171/2019.7.PEDS18585. J Neurosurg Pediatr. 2019. PMID: 31786542 Review.
BACKGROUND: Craniosynostosis is a condition in which 2 or more of the skull bones fuse prematurely. ...METHODS: In this review article, the authors, who are the leaders of a craniofacial team at a major academic pediatric hospital, focus on single-suture craniosynostosi …
BACKGROUND: Craniosynostosis is a condition in which 2 or more of the skull bones fuse prematurely. ...METHODS: In this review articl …
Minimally invasive approaches to craniosynostosis.
Pendharkar AV, Shahin MN, Cavallo C, Zhao X, Ho AL, Sussman ES, Grant GA. Pendharkar AV, et al. J Neurosurg Sci. 2018 Dec;62(6):745-764. doi: 10.23736/S0390-5616.18.04483-1. Epub 2018 May 22. J Neurosurg Sci. 2018. PMID: 29790726 Review.
Craniosynostosis (CS) is defined as the premature fusion of one or more calvarial sutures. ...
Craniosynostosis (CS) is defined as the premature fusion of one or more calvarial sutures. ...
Neurosurgical aspects of Noonan syndrome.
Saragosti E, Fattal-Valevski A, Levin D, Hausman-Kedem M, Constantini S, Mecica N, Zarour S, Roth J. Saragosti E, et al. Childs Nerv Syst. 2023 Apr;39(4):849-856. doi: 10.1007/s00381-023-05888-2. Epub 2023 Feb 27. Childs Nerv Syst. 2023. PMID: 36847963 Review.
Though rare, several neurosurgical manifestations have been associated with NS, such as Chiari malformation (CM-I), syringomyelia, brain tumors, moyamoya, and craniosynostosis. We describe our experience in treating children with NS and various neurosurgical conditions, an …
Though rare, several neurosurgical manifestations have been associated with NS, such as Chiari malformation (CM-I), syringomyelia, brain tum …
Teratogen update: methotrexate.
Hyoun SC, Običan SG, Scialli AR. Hyoun SC, et al. Birth Defects Res A Clin Mol Teratol. 2012 Apr;94(4):187-207. doi: 10.1002/bdra.23003. Epub 2012 Mar 20. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22434686 Review.
This syndrome may be associated with exposures between 6 and 8 weeks after conception and dose levels of 10 mg/week or greater. More recent case reports of methotrexate exposure for the misdiagnosis of ectopic pregnancy involve treatment before 6 weeks after concept …
This syndrome may be associated with exposures between 6 and 8 weeks after conception and dose levels of 10 mg/week or greater. More …
Genetics of craniofacial malformations.
Schmetz A, Amiel J, Wieczorek D. Schmetz A, et al. Semin Fetal Neonatal Med. 2021 Dec;26(6):101290. doi: 10.1016/j.siny.2021.101290. Epub 2021 Sep 17. Semin Fetal Neonatal Med. 2021. PMID: 34561177 Review.
In this review we have chosen craniofacial malformation syndromes which are of relevance for the pediatrician, especially neonatologist: different types of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence and Treacher Collins syndrome. ...
In this review we have chosen craniofacial malformation syndromes which are of relevance for the pediatrician, especially neonatologist: dif …
Syndromes with supernumerary teeth.
Lubinsky M, Kantaputra PN. Lubinsky M, et al. Am J Med Genet A. 2016 Oct;170(10):2611-6. doi: 10.1002/ajmg.a.37763. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250821 Review.
However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. ...There is also suggestive evidence of an association with two …
However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better d …
138 results