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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1979 1
1986 1
1988 1
1990 1
1991 2
1993 2
1994 1
1995 1
1996 2
1998 1
1999 1
2000 1
2001 1
2003 1
2005 2
2006 4
2010 1
2011 2
2012 1
2013 2
2014 3
2015 6
2016 5
2017 6
2018 5
2019 5
2020 4
2021 5
2022 6
2023 12
2024 6

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82 results

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Page 1
Tuberous sclerosis: a review of the past, present, and future.
Uysal SP, Şahin M. Uysal SP, et al. Turk J Med Sci. 2020 Nov 3;50(SI-2):1665-1676. doi: 10.3906/sag-2002-133. Turk J Med Sci. 2020. PMID: 32222129 Free PMC article. Review.
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in several organs. ...TSC associated neuropsychiatric disorders (TAND), including intellectual disability, mood disor …
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue d …
KBG syndrome.
Morel Swols D, Foster J 2nd, Tekin M. Morel Swols D, et al. Orphanet J Rare Dis. 2017 Dec 19;12(1):183. doi: 10.1186/s13023-017-0736-8. Orphanet J Rare Dis. 2017. PMID: 29258554 Free PMC article. Review.
CLINICAL DESCRIPTION: KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings including short stature, delayed bone age, and costover …
CLINICAL DESCRIPTION: KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as tria …
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP. Jones AC, et al. Am J Hum Genet. 1999 May;64(5):1305-15. doi: 10.1086/302381. Am J Hum Genet. 1999. PMID: 10205261 Free PMC article. Review.
Tuberous sclerosis (TSC [MIM 191090 and MIM 191100]) is an autosomal dominant disorder characterized by hamartomas in many organs. ...In contrast, all TSC1 mutations were predicted to be truncating, consistent with a structural or adapter role for the encoded protei …
Tuberous sclerosis (TSC [MIM 191090 and MIM 191100]) is an autosomal dominant disorder characterized by hamartomas in many org …
Alzheimer's disease associated with Down syndrome: a genetic form of dementia.
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona-Iragui M. Fortea J, et al. Lancet Neurol. 2021 Nov;20(11):930-942. doi: 10.1016/S1474-4422(21)00245-3. Lancet Neurol. 2021. PMID: 34687637 Free PMC article. Review.
Diagnosis of dementia remains a clinical challenge because of the lack of validated diagnostic criteria in this population, and because symptoms are overshadowed by the intellectual disability associated with Down syndrome. In people with Down syndrome, fluid and im …
Diagnosis of dementia remains a clinical challenge because of the lack of validated diagnostic criteria in this population, and because symp …
Tuberous sclerosis complex.
Islam MP, Roach ES. Islam MP, et al. Handb Clin Neurol. 2015;132:97-109. doi: 10.1016/B978-0-444-62702-5.00006-8. Handb Clin Neurol. 2015. PMID: 26564073 Review.
Most individuals have seizures, commonly including infantile spasms, and there is variable intellectual disability and autism. Neonates can present with cardiac failure due to intracardiac rhabdomyomas. ...Pulmonary involvement occurs predominantly in women and carr …
Most individuals have seizures, commonly including infantile spasms, and there is variable intellectual disability and autism. …
Genetics of recessive cognitive disorders.
Musante L, Ropers HH. Musante L, et al. Trends Genet. 2014 Jan;30(1):32-9. doi: 10.1016/j.tig.2013.09.008. Epub 2013 Oct 28. Trends Genet. 2014. PMID: 24176302 Review.
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often d …
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease …
Parkinson's disease - genetic cause.
Cherian A, K P D, Vijayaraghavan A. Cherian A, et al. Curr Opin Neurol. 2023 Aug 1;36(4):292-301. doi: 10.1097/WCO.0000000000001167. Epub 2023 May 24. Curr Opin Neurol. 2023. PMID: 37366140 Review.
About 5-10% of all patients suffer from a monogenic form of Parkinson's disease. RECENT FINDINGS: Mutations in autosomal dominant genes (e.g. SNCA, LRRK2, VPS35) or autosomal recessive genes (e.g. ...X-linked parkinsonism manifests at a young age accompanied …
About 5-10% of all patients suffer from a monogenic form of Parkinson's disease. RECENT FINDINGS: Mutations in autosomal dominant
Genetics of retinoblastoma.
Vogel F. Vogel F. Hum Genet. 1979 Nov 1;52(1):1-54. doi: 10.1007/BF00284597. Hum Genet. 1979. PMID: 393614 Review.
The genetic basis of retinoblastoma is reviewed and the following conclusions are drawn: 1) The mode of inheritance of the hereditary variety of retinoblastoma (R) is autosomal dominant with about 90% penetrance. 2) About 68% of inherited cases are bilateral, …
The genetic basis of retinoblastoma is reviewed and the following conclusions are drawn: 1) The mode of inheritance of the hereditary …
Familial adult myoclonic epilepsy: A new expansion repeats disorder.
Lagorio I, Zara F, Striano S, Striano P. Lagorio I, et al. Seizure. 2019 Apr;67:73-77. doi: 10.1016/j.seizure.2019.03.009. Epub 2019 Mar 19. Seizure. 2019. PMID: 30928698 Free article. Review.
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant autosomal dominant condition featuring cortical hand tremors, myoclonic jerks, and occasional/rare convulsive seizures. ...FAM …
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant …
Key role of Rho GTPases in motor disorders associated with neurodevelopmental pathologies.
Bloch-Gallego E, Anderson DI. Bloch-Gallego E, et al. Mol Psychiatry. 2023 Jan;28(1):118-126. doi: 10.1038/s41380-022-01702-8. Epub 2022 Aug 2. Mol Psychiatry. 2023. PMID: 35918397 Review.
Whole exome sequencing (WES) and de novo examination of mutations, including SNP (Single Nucleotide Polymorphism) in genes coding for the molecules of their signaling cascade, has allowed the recent discovery of dominant autosomic mutations and duplication or deleti …
Whole exome sequencing (WES) and de novo examination of mutations, including SNP (Single Nucleotide Polymorphism) in genes coding for the mo …
82 results