ArticleJournal of genetic counseling2007
Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
Article in Journal of genetic counseling, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 77 citations in OpenAlex.
- Review
- "It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.Journal of community genetics · 2016Article
- EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.European journal of human genetics : EJHG · 2015Article
- Attitudes towards potentially carrying the FMR1 premutation: before vs after testing of non-carrier females with diminished ovarian reserve.Journal of genetic counseling · 2014Article
- Climbing the branches of a family tree: diagnosis of fragile X syndrome.The Journal of pediatrics · 2014Article
- Longitudinal interviews of couples diagnosed with diminished ovarian reserve undergoing fragile X premutation testing.Journal of genetic counseling · 2014Article
- The FMR1 gene, infertility, and reproductive decision-making: a review.Frontiers in genetics · 2014Review
- Newborn screening and cascade testing for FMR1 mutations.American journal of medical genetics. Part A · 2013Article
- Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve.Reproductive sciences (Thousand Oaks, Calif.) · 2012Article
- Carrier screening in preconception consultation in primary care.Journal of community genetics · 2012Article
- Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders.Progress in neurobiology · 2012Review
- Caregiver opinions about fragile X population screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
- Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.European journal of human genetics : EJHG · 2011Article
- What is the role of genetic testing in movement disorders practice?Current neurology and neuroscience reports · 2011Review
- Fragile X and autism: Intertwined at the molecular level leading to targeted treatments.Molecular autism · 2010Article
- Broad clinical involvement in a family affected by the fragile X premutation.Journal of developmental and behavioral pediatrics : JDBP · 2009Article
- A review of fragile X premutation disorders: expanding the psychiatric perspective.The Journal of clinical psychiatry · 2009Review
- Advances in the treatment of fragile X syndrome.Pediatrics · 2009Review
- Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008Article
- Fragile X syndrome.European journal of human genetics : EJHG · 2008Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 9 institutions in 1 country.
Funding
Abstract
The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.