A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE
Open accessThe claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Fragile X syndrome is the leading inherited cause of intellectual disability.
“Fragile X syndrome (FXS), an X-linked condition first described by Martin and Bell (1), is the leading cause of inherited intellectual disability (ID).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [1]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
A Clinical and Genetic Study of 1280 Cases of Mental Defect
Haldane, J. B. S. (1938) · Nature · doi:10.1038/141575a0 · Cited by 154 · see citing works
A Clinical and Genetic Study of 1,280 Cases of Mental Defect.
(1938) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1938.01980150233022 · Cited by 64 · see citing works
Sex-linked Microphthalmia and Mental Deficiency
Roberts, J. A. (1937) · BMJ · doi:10.1136/bmj.2.4015.1213 · Cited by 27 · see citing works
Ash, W. M. (1922) · BMJ · doi:10.1136/bmj.1.3197.558 · Cited by 15 · see citing works
The Dorsal Test for Pericardial Effusion
Ewart, W. (1897) · BMJ · doi:10.1136/bmj.1.1887.558 · Cited by 2 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797 · see citing works
FMR1 and the fragile X syndrome: Human genome epidemiology review
Crawford, D. C., Acuña, J. M., & Sherman, S. L. (2001) · Genetics in Medicine · doi:10.1097/00125817-200109000-00006 · Cited by 711 · see citing works
The Pathophysiology of Fragile X Syndrome
Penagarikano, O., Mulle, J. G., & Warren, S. T. (2007) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.8.080706.092249 · Cited by 420 · see citing works
Molecular mechanisms underlying nucleotide repeat expansion disorders
Malik, I., Kelley, C. P., Wang, E. T., & Todd, P. K. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-021-00382-6 · Cited by 363 · see citing works
The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)
Bhakar, A. L., Dölen, G., & Bear, M. F. (2012) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-060909-153138 · Cited by 370 · see citing works
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63141 · Cited by 321 · see citing works
Dysregulation and restoration of translational homeostasis in fragile X syndrome
Richter, J. D., Bassell, G. J., & Klann, E. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn4001 · Cited by 275 · see citing works
The fra(X) syndrome: Neurological, electrophysiological, and neuropathological abnormalities
Wisniewski, K. E., Segan, S. M., Miezejeski, C. M., Sersen, E. A., & Rudelli, R. D. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320380267 · Cited by 261 · see citing works
Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome
Krueger, D. D., & Bear, M. F. (2011) · Annual Review of Medicine · doi:10.1146/annurev-med-061109-134644 · Cited by 259 · see citing works
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery
Lubs, H. A., Stevenson, R. E., & Schwartz, C. E. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.02.018 · Cited by 248 · see citing works
An analysis of autism in fifty males with the fragile X syndrome
Hagerman, R. J., Jackson, A. W., Levitas, A., Rimland, B., Braden, M., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230128 · Cited by 238 · see citing works
A phenotypic and molecular characterization of the <i>fmr1‐tm1Cgr</i> Fragile X mouse
Yan, Q. J., Asafo‐Adjei, P. K., Arnold, H. M., Brown, R. E., & Bauchwitz, R. P. (2004) · Genes, Brain and Behavior · doi:10.1111/j.1601-183x.2004.00087.x · Cited by 213 · see citing works
Fragile X syndrome: a review of clinical and molecular diagnoses
Ciaccio, C., Fontana, L., Milani, D., Tabano, S., Miozzo, M., & Esposito, S. (2017) · Italian Journal of Pediatrics · doi:10.1186/s13052-017-0355-y · Cited by 160 · see citing works
Parallel social information processing circuits are differentially impacted in autism
Lewis, E. M., Stein-O’Brien, G. L., Patino, A. V., Nardou, R., Grossman, C. D., Brown, M., Bangamwabo, B., Ndiaye, N., Giovinazzo, D., Dardani, I., et al. (2020) · Neuron · doi:10.1016/j.neuron.2020.10.002 · Cited by 72 · see citing works
Screening for fragile X syndrome.
Murray, Cuckle, Taylor, & Hewison (1997) · Health Technology Assessment · doi:10.3310/hta1040 · Cited by 60 · see citing works
Treatments for fragile X syndrome: A closer look at the data
Hall, S. S. (2009) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.78 · Cited by 56 · see citing works
Heads‐up: New roles for the fragile X mental retardation protein in neural stem and progenitor cells
Callan, M. A., & Zarnescu, D. C. (2011) · genesis · doi:10.1002/dvg.20745 · Cited by 39 · see citing works
Grigsby, J. (2016) · The Clinical Neuropsychologist · doi:10.1080/13854046.2016.1184652 · Cited by 34 · see citing works
Fragile sites, chromosomal lesions, tandem repeats, and disease
Mirceta, M., Shum, N., Schmidt, M. H. M., & Pearson, C. E. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.985975 · Cited by 30 · see citing works
Genetics of Autism Spectrum Disorders
Rutter, M., & Thapar, A. (2014) · Handbook of Autism and Pervasive Developmental Disorders, Fourth Edition · doi:10.1002/9781118911389.hautc17 · Cited by 31 · see citing works
Astrocytes in fragile X syndrome
Talvio, K., & Castrén, M. L. (2024) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2023.1322541 · Cited by 8 · see citing works
“FXS, first described as an X chromosome-linked syndrome (Martin and Bell, 1943) is considered the most common cause of inherited intellectual disability.”
Background
- Authors
- Martin, J. P., & Bell, J.
- Affiliations
- National Hospital for Neurology and Neurosurgery (GB)
- Venue
- Journal of Neurology, Neurosurgery & Psychiatry
- Publisher
- BMJ
- Published
- 1943-07-01
- Volume
- 6
- Issue
- 3-4
- Pages
- 154-157
- ISSN
- 0022-3050 (ISSN-L)
- PMC
- PMC1090429
- OpenAlex
- W1997557106
- Cited by
- 481
- References
- 5
- Citations by year
- 2026: 1 · 2025: 7 · 2024: 8 · 2023: 10 · 2022: 12 · 2021: 15 · 2020: 10 · 2019: 20 · 2018: 13 · 2017: 18 · 2016: 14 · 2015: 7 · 2014: 18 · 2013: 19 · 2012: 17
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Neurology Neurosurgery & Psychiatry (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Social Sciences › Psychology › Clinical Psychology › Historical Psychiatry and Medical Practices
- Keywords
- intellectual disability, sex-linked inheritance, pedigree analysis, X-linked inheritance, family history
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review