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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 39"
Page 1
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.
Bounakis N, Karampalis C, Sharp H, Tsirikos AI. Bounakis N, et al. J Med Case Rep. 2015 Jan 18;9:10. doi: 10.1186/1752-1947-9-10. J Med Case Rep. 2015. PMID: 25596810 Free PMC article. Review.
INTRODUCTION: Rubinstein-Taybi syndrome is an autosomal dominant disorder resulting in congenital craniofacial deformities, and divided into types 1 and 2. ...CASE PRESENTATION: We present a 14-year-old British Caucasian girl with Rubinstein-Taybi type 2 syndrome wh …
INTRODUCTION: Rubinstein-Taybi syndrome is an autosomal dominant disorder resulting in congenital craniofacial deformities, an …
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature.
Al Tuwaijri A, Alfadhel M. Al Tuwaijri A, et al. J Pediatr Endocrinol Metab. 2019 Apr 24;32(4):409-413. doi: 10.1515/jpem-2018-0505. J Pediatr Endocrinol Metab. 2019. PMID: 30796847 Review.
Case presentation Over the last decade, terminal and interstitial submicroscopic deletions of copy number variants (CNVs) in 2p25.3 and single nucleotide variants (SNVs) in myelin transcription factor 1 like (MYT1L) were detected by genome-wide array analysis and whole exome sequ …
Case presentation Over the last decade, terminal and interstitial submicroscopic deletions of copy number variants (CNVs) in 2p25.3 and sing …
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A. Pavinato L, et al. J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323470 Free PMC article.
Mutations in TLK2 were recently associated with 'Mental Retardation Autosomal Dominant 57' (MRD57, MIM# 618050), a neurodevelopmental disorder characterised by a highly variable phenotype, including mild-to-moderate intellectual disability, behavioural …
Mutations in TLK2 were recently associated with 'Mental Retardation Autosomal Dominant 57' (MRD57, MIM# 618050), a neurodevelo …
Right Ventricle Involvement by Glycogen Storage Cardiomyopathy (PRKAG2): Standard and Advanced Echocardiography Analyses.
Pena JLB, Melo FJ, Santos WC, Moura ICG, Nakashima GP, Freitas NC, Sternick EB. Pena JLB, et al. Arq Bras Cardiol. 2022 Dec;119(6):902-909. doi: 10.36660/abc.20210801. Arq Bras Cardiol. 2022. PMID: 36417616 Free PMC article. English, Portuguese.
BACKGROUND: PRKAG2 syndrome is a rare, early-onset autosomal dominant inherited disease. We aimed to describe the right ventricle (RV) echocardiographic findings using two and three-dimensional (2D and 3D) modalities including myocardial deformation indices in this …
BACKGROUND: PRKAG2 syndrome is a rare, early-onset autosomal dominant inherited disease. We aimed to describe the right ventri …
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
López M, Seidel V, Santibáñez P, Cervera-Acedo C, Castro-de Castro P, Domínguez-Garrido E. López M, et al. BMC Med Genet. 2016 Dec 13;17(1):97. doi: 10.1186/s12881-016-0361-8. BMC Med Genet. 2016. PMID: 27964710 Free PMC article.
BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. ...A novel …
BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characteriz …
Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.
Robert A, Leroy V, Riquet A, Gogneaux L, Boutry N, Avni FE. Robert A, et al. Radiol Med. 2016 May;121(5):402-8. doi: 10.1007/s11547-015-0572-7. Epub 2015 Jul 29. Radiol Med. 2016. PMID: 26219723
Lesions encompass mainly angiomyolipoma and cysts. The disease can be associated with autosomal dominant polycystic kidney disease leading to the contiguous gene syndrome (CGS) The objectives of the present study were to review the US appearances of the renal involv …
Lesions encompass mainly angiomyolipoma and cysts. The disease can be associated with autosomal dominant polycystic kidney dis …
Congenital and inherited ophthalmologic abnormalities.
Arora P, Tullu MS, Muranjan MN, Kerkar SP, Girisha KM, Bharucha BA. Arora P, et al. Indian J Pediatr. 2003 Jul;70(7):549-52. doi: 10.1007/BF02723156. Indian J Pediatr. 2003. PMID: 12940376
Mucopolysaccharidoses (21.4%), Wilson disease (19.64%), oculocutaneous albinism (16.07%) and lipid storage disorders (14.29%) were the most common inborn errors of metabolism associated with ophthalmologic abnormalities. Of the 39 cases with Mendelian inheritance of disord …
Mucopolysaccharidoses (21.4%), Wilson disease (19.64%), oculocutaneous albinism (16.07%) and lipid storage disorders (14.29%) were the most …
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.
Elson E, Perveen R, Donnai D, Wall S, Black GC. Elson E, et al. J Med Genet. 2002 Nov;39(11):804-6. doi: 10.1136/jmg.39.11.804. J Med Genet. 2002. PMID: 12414818 Free PMC article.
The condition overlaps with Greig cephalopolysyndactyly syndrome (GCPS), an autosomal dominant disorder that results from mutations in the GLI3 gene. ...
The condition overlaps with Greig cephalopolysyndactyly syndrome (GCPS), an autosomal dominant disorder that results from muta …
Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.
Phillips CI, Newton M, Duvall J, Holloway S, Levy AM. Phillips CI, et al. Br J Ophthalmol. 1986 Apr;70(4):305-13. doi: 10.1136/bjo.70.4.305. Br J Ophthalmol. 1986. PMID: 3964631 Free PMC article.
Given Norrie's disease, we have calculated a mutation rate of 3.9 per million chromosomes in the Scottish population--remarkably similar to the mutation rates calculated for many dominant diseases. A diagnosis of autosomal recessive non-attachment of retina implies …
Given Norrie's disease, we have calculated a mutation rate of 3.9 per million chromosomes in the Scottish population--remarkably similar to …