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1996
2025

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Year Number of Results
1996 1
2005 1
2007 1
2008 1
2009 1
2014 2
2015 1
2016 3
2017 1
2018 3
2019 1
2022 1
2024 1
2025 0

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15 results

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Page 1
If not Angelman, what is it? A review of Angelman-like syndromes.
Tan WH, Bird LM, Thibert RL, Williams CA. Tan WH, et al. Am J Med Genet A. 2014 Apr;164A(4):975-92. doi: 10.1002/ajmg.a.36416. Am J Med Genet A. 2014. PMID: 24779060 Review.
The microdeletion/microduplication syndromes are now easily identified by chromosomal microarray analysis and include Phelan-McDermid syndrome (chromosome 22q13.3 deletion), MBD5 haploinsufficiency syndrome (chromosome 2q23.1 deletion), and KANSL1 haploinsuff …
The microdeletion/microduplication syndromes are now easily identified by chromosomal microarray analysis and include Phelan-McDermid …
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR. Seltzer LE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Am J Med Genet C Semin Med Genet. 2014. PMID: 24839169 Review.
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG …
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as mo …
Does theFMR1 gene affect IVF success?
Pastore LM, Christianson MS, McGuinness B, Vaught KC, Maher JY, Kearns WG. Pastore LM, et al. Reprod Biomed Online. 2019 Apr;38(4):560-569. doi: 10.1016/j.rbmo.2018.11.009. Epub 2018 Dec 10. Reprod Biomed Online. 2019. PMID: 30711457 Free PMC article. Review.
FMR1 CGG trinucleotide repeat expansions are associated with Fragile X syndrome (full mutations) and primary ovarian insufficiency (premutation range); the effect of FMR1 on the success of fertility treatment is unclear. ...Direct implications of the repeat length on inher …
FMR1 CGG trinucleotide repeat expansions are associated with Fragile X syndrome (full mutations) and primary ovarian insufficiency (p …
Ethnic differences in metabolic syndrome in high-income countries: A systematic review and meta-analysis.
Adjei NK, Samkange-Zeeb F, Boakye D, Saleem M, Christianson L, Kebede MM, Heise TL, Brand T, Esan OB, Taylor-Robinson DC, Agyemang C, Zeeb H. Adjei NK, et al. Rev Endocr Metab Disord. 2024 Aug;25(4):727-750. doi: 10.1007/s11154-024-09879-9. Epub 2024 Apr 10. Rev Endocr Metab Disord. 2024. PMID: 38598068 Free PMC article. Review.
This review aimed to systematically quantify the differences in Metabolic Syndrome (MetS) prevalence across various ethnic groups in high-income countries by sex, and to evaluate the overall prevalence trends from 1996 to 2022. ...
This review aimed to systematically quantify the differences in Metabolic Syndrome (MetS) prevalence across various ethnic groups in …
Stress and chronic pelvic pain.
Pierce AN, Christianson JA. Pierce AN, et al. Prog Mol Biol Transl Sci. 2015;131:509-35. doi: 10.1016/bs.pmbts.2014.11.009. Epub 2015 Feb 2. Prog Mol Biol Transl Sci. 2015. PMID: 25744684 Review.
Chronic pelvic pain is the number one reason that patients suffering from irritable bowel syndrome, interstitial cystitis/painful bladder syndrome, vulvodynia, or chronic prostatitis/chronic pelvic pain syndrome seek medical attention. ...In this chapter, we …
Chronic pelvic pain is the number one reason that patients suffering from irritable bowel syndrome, interstitial cystitis/painful bla …
The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.
Sinajon P, Verbaan D, So J. Sinajon P, et al. Hum Genet. 2016 Aug;135(8):841-50. doi: 10.1007/s00439-016-1675-5. Epub 2016 May 3. Hum Genet. 2016. PMID: 27142213 Review.
Christianson syndrome (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global developmental delay and intellectual disability, developmental regression, epilepsy, microcephaly and impaired ocular movements. ...There is littl
Christianson syndrome (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global develo
Fertility preservation for pediatric patients with hemoglobinopathies: Multidisciplinary counseling needed to optimize outcomes.
Bedrick BS, Kohn TP, Pecker LH, Christianson MS. Bedrick BS, et al. Front Endocrinol (Lausanne). 2022 Oct 24;13:985525. doi: 10.3389/fendo.2022.985525. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36353243 Free PMC article. Review.
Complications of COH are more common in patients with hemoglobinopathies. Ovarian hyperstimulation syndrome creates a greater risk to patients with underlying vascular, pulmonary, and renal injury, as they may be less able to tolerate fluids shifts. ...
Complications of COH are more common in patients with hemoglobinopathies. Ovarian hyperstimulation syndrome creates a greater risk to …
Ion channels, ion channel receptors, and visceral hypersensitivity in irritable bowel syndrome.
Fuentes IM, Christianson JA. Fuentes IM, et al. Neurogastroenterol Motil. 2016 Nov;28(11):1613-1618. doi: 10.1111/nmo.12979. Neurogastroenterol Motil. 2016. PMID: 27781369 Free PMC article. Review.
It is therefore not surprising that in the setting of functional bowel disorders, such as irritable bowel syndrome (IBS), ion channels are often altered in terms of expression level and function and are a target of pharmacological intervention. ...
It is therefore not surprising that in the setting of functional bowel disorders, such as irritable bowel syndrome (IBS), ion channel …
Controlled ovarian stimulation and triggers in in vitro fertilization: protocol personalization key to optimize outcomes.
Maher JY, Christianson MS. Maher JY, et al. Minerva Endocrinol. 2018 Mar;43(1):37-49. doi: 10.23736/S0391-1977.17.02636-0. Epub 2017 Mar 21. Minerva Endocrinol. 2018. PMID: 28322538 Review.
These include a delicate balance of controlled ovarian hyperstimulation (COH) without causing ovarian hyperstimulation syndrome (OHSS), a safe oocyte retrieval, fertilization and embryo culture, endometrial growth and receptivity to promote implantation, and luteal support …
These include a delicate balance of controlled ovarian hyperstimulation (COH) without causing ovarian hyperstimulation syndrome (OHSS …
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.
Deardorff MA, Porter NJ, Christianson DW. Deardorff MA, et al. Protein Sci. 2016 Nov;25(11):1965-1976. doi: 10.1002/pro.3030. Epub 2016 Sep 16. Protein Sci. 2016. PMID: 27576763 Free PMC article. Review.
Cornelia de Lange Syndrome (CdLS) encompasses a broad spectrum of phenotypes characterized by distinctive craniofacial abnormalities, limb malformations, growth retardation, and intellectual disability. ...
Cornelia de Lange Syndrome (CdLS) encompasses a broad spectrum of phenotypes characterized by distinctive craniofacial abnormalities, …
15 results