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
2011 1
2012 5
2013 1
2014 2
2015 3
2016 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Page 1
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
Ferreira CR, Ziegler SG, Gupta A, Groden C, Hsu KS, Gahl WA. Ferreira CR, et al. Am J Med Genet A. 2016 May;170A(5):1308-11. doi: 10.1002/ajmg.a.37574. Epub 2016 Feb 9. Am J Med Genet A. 2016. PMID: 26857895 Free PMC article.
It appears that the recognition of hypophosphatemia later in life in some GACI patients is a consequence of having survived the first few months of life, and not the cause of their survival per se. Here, we report the long-term follow-up of a GACI patient who was phosphate …
It appears that the recognition of hypophosphatemia later in life in some GACI patients is a consequence of having survived the first few mo …
Global implementation of genomic medicine: We are not alone.
Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC, Bleyl S, Chakravarti A, Chantratita W, Chisholm RL, Dissanayake VH, Dunn M, Dzau VJ, Han BG, Hubbard T, Kolbe A, Korf B, Kubo M, Lasko P, Leego E, Mahasirimongkol S, Majumdar PP, Matthijs G, McLeod HL, Metspalu A, Meulien P, Miyano S, Naparstek Y, O'Rourke PP, Patrinos GP, Rehm HL, Relling MV, Rennert G, Rodriguez LL, Roden DM, Shuldiner AR, Sinha S, Tan P, Ulfendahl M, Ward R, Williams MS, Wong JE, Green ED, Ginsburg GS. Manolio TA, et al. Sci Transl Med. 2015 Jun 3;7(290):290ps13. doi: 10.1126/scitranslmed.aab0194. Sci Transl Med. 2015. PMID: 26041702 Free PMC article. Review.
National Human Genome Research Institute and the National Academy of Medicine recently brought together 25 of these groups to compare projects, to examine the current state of implementation and desired near-term capabilities, and to identify opportunities for collaboratio …
National Human Genome Research Institute and the National Academy of Medicine recently brought together 25 of these groups to compare projec …
Case definition and classification of leukodystrophies and leukoencephalopathies.
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Vanderver A, et al. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
OBJECTIVE: An approved definition of the term leukodystrophy does not currently exist. The lack of a precise case definition hampers efforts to study the epidemiology and the relevance of genetic white matter disorders to public health. ...
OBJECTIVE: An approved definition of the term leukodystrophy does not currently exist. The lack of a precise case definition hampers …
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. Keppler-Noreuil KM, et al. Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31. Am J Med Genet A. 2015. PMID: 25557259 Free PMC article.
Participants in the workshop included a group of researchers from several institutions who have been studying these disorders and have published their findings, as well as representatives from patient-advocacy and support groups. The umbrella term of "PIK3CA-Related Overgr …
Participants in the workshop included a group of researchers from several institutions who have been studying these disorders and have publi …
High sensitivity C-reactive protein (Hs-CRP) remains highly stable in long-term archived human serum.
Doumatey AP, Zhou J, Adeyemo A, Rotimi C. Doumatey AP, et al. Clin Biochem. 2014 Mar;47(4-5):315-8. doi: 10.1016/j.clinbiochem.2013.12.014. Epub 2013 Dec 27. Clin Biochem. 2014. PMID: 24373927 Free PMC article.
In addition, the data also suggest that the time elapsed between collection and Hs-CRP measurement does not affect Hs-CRP stability over time when samples are kept under the appropriate conditions. CONCLUSIONS: Long-term storage at -80C for up to 11years did not significan …
In addition, the data also suggest that the time elapsed between collection and Hs-CRP measurement does not affect Hs-CRP stability over tim …
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 rarely occurs in individuals with Muenke syndrome, and little detail is reported on types of epilepsy, patient characteristics, and long-term outcomes. We present seven patients with Muenke syndrome and seizures. ...
Epilepsy rarely occurs in individuals with Muenke syndrome, and little detail is reported on types of epilepsy, patient characteristics, and …
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.
The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses. METHODS: A comprehensive literature review was done with respect to t …
The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and l …
Neurocognitive phenotype of isolated methylmalonic acidemia.
O'Shea CJ, Sloan JL, Wiggs EA, Pao M, Gropman A, Baker EH, Manoli I, Venditti CP, Snow J. O'Shea CJ, et al. Pediatrics. 2012 Jun;129(6):e1541-51. doi: 10.1542/peds.2011-1715. Epub 2012 May 21. Pediatrics. 2012. PMID: 22614770 Free PMC article. Clinical Trial.
OBJECTIVE: Methylmalonic acidemia (MMA) is a metabolic disorder with a poorly defined long-term neurocognitive phenotype. We studied the neuropsychological outcomes of patients and examined clinical covariates that influenced cognition. ...
OBJECTIVE: Methylmalonic acidemia (MMA) is a metabolic disorder with a poorly defined long-term neurocognitive phenotype. We studied …
HLA class II locus and susceptibility to podoconiosis.
Tekola Ayele F, Adeyemo A, Finan C, Hailu E, Sinnott P, Burlinson ND, Aseffa A, Rotimi CN, Newport MJ, Davey G. Tekola Ayele F, et al. N Engl J Med. 2012 Mar 29;366(13):1200-8. doi: 10.1056/NEJMoa1108448. N Engl J Med. 2012. PMID: 22455414 Free PMC article.
BACKGROUND: Podoconiosis is a tropical lymphedema resulting from long-term barefoot exposure to red-clay soil derived from volcanic rock. ...
BACKGROUND: Podoconiosis is a tropical lymphedema resulting from long-term barefoot exposure to red-clay soil derived from volcanic r …
Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery.
Sénac JS, Chandler RJ, Sysol JR, Li L, Venditti CP. Sénac JS, et al. Gene Ther. 2012 Apr;19(4):385-91. doi: 10.1038/gt.2011.108. Epub 2011 Jul 21. Gene Ther. 2012. PMID: 21776024 Free PMC article.
Methylmalonic acidemia (MMA), an inherited metabolic disorder caused by deficient activity of methylmalonyl-CoA mutase, carries a poor prognosis for long-term survival. While administration of a recombinant adeno-associated virus serotype 8 vector (rAAV8) can rescue Mut(-/ …
Methylmalonic acidemia (MMA), an inherited metabolic disorder caused by deficient activity of methylmalonyl-CoA mutase, carries a poor progn …