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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 11"
Page 1
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 …
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
Moirangthem A, Mandal K, Saxena D, Srivastava P, Gambhir PS, Agrawal N, Shambhavi A, Nampoothiri S, Phadke SR. Moirangthem A, et al. Am J Med Genet A. 2021 Aug;185(8):2345-2355. doi: 10.1002/ajmg.a.62241. Epub 2021 May 4. Am J Med Genet A. 2021. PMID: 33942996
Overgrowth, defined as height and/or OFC +2SD, characterizes a subset of patients with syndromic intellectual disability (ID). Many of the disorders with overgrowth and ID (OGID) are rare and the full phenotypic and genotypic spectra have not been unraveled. ...The …
Overgrowth, defined as height and/or OFC +2SD, characterizes a subset of patients with syndromic intellectual disability (ID). …
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Santos M, Damásio J, Carmona S, Neto JL, Dehghani N, Guedes LC, Barbot C, Barros J, Brás J, Sequeiros J, Guerreiro R. Santos M, et al. Cells. 2022 Mar 12;11(6):981. doi: 10.3390/cells11060981. Cells. 2022. PMID: 35326432 Free PMC article.
In this study, we performed whole-exome sequencing (WES) in 19 families with HCA and presumed autosomal recessive (AR) inheritance, to identify the causal genes. ...The most frequent causal genes were associated with spastic ataxia (SACS and KIF1C) and with ataxia and neur …
In this study, we performed whole-exome sequencing (WES) in 19 families with HCA and presumed autosomal recessive (AR) inheritance, t …
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review.
Finetti M, Omenetti A, Federici S, Caorsi R, Gattorno M. Finetti M, et al. Orphanet J Rare Dis. 2016 Dec 7;11(1):167. doi: 10.1186/s13023-016-0542-8. Orphanet J Rare Dis. 2016. PMID: 27927236 Free PMC article. Review.
It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS). CLINICAL DESCRIPTION AND ETIOLOGY: The syndrome is due to autosomal dominant gain of function mutations in NLRP3, which encodes a key component of the innate immunity that …
It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS). CLINICAL DESCRIPTION AND ETIOLOGY: The syndrom …
A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome.
Tanaka Y, Morisada N, Suzuki T, Ohashi Y, Ye MJ, Nozu K, Tsuruta S, Iijima K. Tanaka Y, et al. CEN Case Rep. 2021 May;10(2):184-188. doi: 10.1007/s13730-020-00543-0. Epub 2020 Oct 13. CEN Case Rep. 2021. PMID: 33048330 Free PMC article.
The proband was an 18-year-old woman presenting with intellectual disability, renal insufficiency, and hyperuricemia. Abdominal ultrasonography did not reveal any abnormalities. The patient's father had been diagnosed with chronic kidney disease and hyperuricemia in …
The proband was an 18-year-old woman presenting with intellectual disability, renal insufficiency, and hyperuricemia. Abdomina …
Epilepsy Management in Tuberous Sclerosis Complex: Existing and Evolving Therapies and Future Considerations.
Nabavi Nouri M, Zak M, Jain P, Whitney R. Nabavi Nouri M, et al. Pediatr Neurol. 2022 Jan;126:11-19. doi: 10.1016/j.pediatrneurol.2021.09.017. Epub 2021 Sep 30. Pediatr Neurol. 2022. PMID: 34740132 Review.
Tuberous sclerosis complex (TSC) is a rare autosomal dominant condition that affects multiple body systems. Disruption of the mammalian target of rapamycin (mTOR) pathway results in abnormal cell growth, proliferation, protein synthesis, and cell differentiation and …
Tuberous sclerosis complex (TSC) is a rare autosomal dominant condition that affects multiple body systems. Disruption of the …
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, de Scliar MO, Giuliani LR, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Chaves LD, et al. Mol Neurobiol. 2023 Jul;60(7):3758-3769. doi: 10.1007/s12035-023-03311-0. Epub 2023 Mar 21. Mol Neurobiol. 2023. PMID: 36943625
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximately 1% of the population worldwide. ...Whole-exome data obtained from these 11 patients revealed the presence of dominant path …
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximat …
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
Klebe S, Stevanin G, Depienne C. Klebe S, et al. Rev Neurol (Paris). 2015 Jun-Jul;171(6-7):505-30. doi: 10.1016/j.neurol.2015.02.017. Epub 2015 May 23. Rev Neurol (Paris). 2015. PMID: 26008818 Review.
All modes of inheritance have been described, and the recent technological revolution in molecular genetics has led to the identification of 76 different spastic gait disease-loci with 59 corresponding spastic paraplegia genes. Autosomal recessive HSP are usually associate …
All modes of inheritance have been described, and the recent technological revolution in molecular genetics has led to the identification of …
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S, Nardella G, Castellana S, Micale L, Copetti M, Fusco C, Castori M. Morlino S, et al. Am J Med Genet A. 2021 Mar;185(3):955-965. doi: 10.1002/ajmg.a.62047. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369135 Review.
The associated clinical spectrum subsequently expanded to a less severe phenotype dominated by cutaneous involvement. At the moment, ARCL2A was described in a few case reports and series only. ...About 78.3% of known variants were predicted null alleles, while 11 we …
The associated clinical spectrum subsequently expanded to a less severe phenotype dominated by cutaneous involvement. At the moment, …
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S, Beyyumi E, Al Kaabi A, Hertecant J, Barakat D, Al Dhaheri NS, Al-Gazali L, Al Shamsi A. Saleh S, et al. Clin Genet. 2021 Nov;100(5):573-600. doi: 10.1111/cge.14044. Epub 2021 Aug 19. Clin Genet. 2021. PMID: 34374989
Consanguinity was documented in 139 patients with positive molecular diagnoses (139/197, 70.5%). Sixty nine (35% [69/197]) patients had autosomal dominant disorders, majority were De Novo (84%). Ninety-five (48% [95/197]) patients had autosomal recessive dise …
Consanguinity was documented in 139 patients with positive molecular diagnoses (139/197, 70.5%). Sixty nine (35% [69/197]) patients had a …
68 results