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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 24"
Page 1
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.
Mutlu-Albayrak H, Kırat E, Gürbüz G. Mutlu-Albayrak H, et al. Neurogenetics. 2020 Jan;21(1):59-66. doi: 10.1007/s10048-019-00597-y. Epub 2019 Nov 19. Neurogenetics. 2020. PMID: 31741144
Autosomal recessive ataxias (ARAs) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar tract, and/or the sensory tracts of the spinal cord. ...Patients with SACS variants demonstrated developmental delay …
Autosomal recessive ataxias (ARAs) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebell …
The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
Whitney R, Jain P, RamachandranNair R, Jones KC, Kiani H, Tarnopolsky M, Meaney B. Whitney R, et al. Epilepsia Open. 2023 Jun;8(2):623-632. doi: 10.1002/epi4.12747. Epub 2023 Apr 24. Epilepsia Open. 2023. PMID: 37067065 Free PMC article. Review.
OBJECTIVE: ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy. ...Magneti …
OBJECTIVE: ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition characteriz …
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
Sakakibara N, Nozu K, Yamamura T, Horinouchi T, Nagano C, Ye MJ, Ishiko S, Aoto Y, Rossanti R, Hamada R, Okamoto N, Shima Y, Nakanishi K, Matsuo M, Iijima K, Morisada N. Sakakibara N, et al. J Hum Genet. 2022 Jul;67(7):427-440. doi: 10.1038/s10038-022-01020-5. Epub 2022 Feb 9. J Hum Genet. 2022. PMID: 35140360
Nephronophthisis is an autosomal-recessive kidney disease that is caused by abnormalities in primary cilia. ...A total of 39 cases (41.9%) progressed to ESKD at the time of genetic analysis, whereas 58 cases (62.3%) showed extrarenal manifestations, the most common …
Nephronophthisis is an autosomal-recessive kidney disease that is caused by abnormalities in primary cilia. ...A total of 39 c …
Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience.
Elmas M, Yıldız H, Erdoğan M, Gogus B, Avcı K, Solak M. Elmas M, et al. Mol Biol Rep. 2019 Feb;46(1):287-299. doi: 10.1007/s11033-018-4470-7. Epub 2018 Nov 13. Mol Biol Rep. 2019. PMID: 30426380
Whole-exome sequencing (WES) is an ideal method for the diagnosis of autosomal recessive diseases. The aim of this study was to evaluate the diagnostic power of WES in patients with autosomal recessive inheritance and to determine the relationship betw …
Whole-exome sequencing (WES) is an ideal method for the diagnosis of autosomal recessive diseases. The aim of this study was t …
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Minardi R, Licchetta L, Baroni MC, Pippucci T, Stipa C, Mostacci B, Severi G, Toni F, Bergonzini L, Carelli V, Seri M, Tinuper P, Bisulli F. Minardi R, et al. Clin Genet. 2020 Nov;98(5):477-485. doi: 10.1111/cge.13823. Epub 2020 Sep 1. Clin Genet. 2020. PMID: 32725632
Variants were classified according to the American College of Medical Genetics and Genomics guidelines. WES disclosed 24 (likely) pathogenic variants among 18 patients in epilepsy-related genes with either autosomal dominant, recessive or X-linked inheritance …
Variants were classified according to the American College of Medical Genetics and Genomics guidelines. WES disclosed 24 (likely) pat …
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB. Heidari A, et al. Hum Mol Genet. 2015 Oct 15;24(20):5697-710. doi: 10.1093/hmg/ddv286. Epub 2015 Jul 23. Hum Mol Genet. 2015. PMID: 26206890 Free PMC article.
We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated co …
We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu …
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.
Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, Giesebrecht S, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Nöthen MM, Schumacher J, Reis A. Abou Jamra R, et al. Eur J Hum Genet. 2011 Nov;19(11):1161-6. doi: 10.1038/ejhg.2011.98. Epub 2011 Jun 1. Eur J Hum Genet. 2011. PMID: 21629298 Free PMC article.
Non-specific intellectual disability of autosomal recessive inheritance (NS-ARID) represents an important fraction of severe cognitive dysfunction disorders. To date, only 10 genes have been identified, and further 24 linked-ARID loci have been …
Non-specific intellectual disability of autosomal recessive inheritance (NS-ARID) represents an important fracti …
First case of desmosterolosis diagnosed by prenatal whole exome sequencing.
Hill C, Noureldein M, Karkhanis P, Kinning E, Vijay S, Gowda H. Hill C, et al. Am J Med Genet A. 2023 Mar;191(3):859-863. doi: 10.1002/ajmg.a.63083. Epub 2022 Dec 20. Am J Med Genet A. 2023. PMID: 36538928
Desmosterolosis is a rare autosomal recessive disorder of cholesterol biosynthesis resulting in multiple congenital abnormalities and syndromic intellectual disability. It is caused by defects in DHCR24, the gene encoding 3-beta-hydroxysterol-24 …
Desmosterolosis is a rare autosomal recessive disorder of cholesterol biosynthesis resulting in multiple congenital abnormalit …
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G. Tham E, et al. Eur J Hum Genet. 2016 Feb;24(2):198-207. doi: 10.1038/ejhg.2015.91. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966638 Free PMC article.
A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gillessen-Kaesbach et al and subsequently by Nishimura et al. ...Only three liveborn children with ALG9-CDG have been previously …
A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first de …
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Rauch A, et al. Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27. Lancet. 2012. PMID: 23020937
Our aim was to identify de-novo variants in individuals with sporadic non-syndromic intellectual disability. METHODS: In this study, we enrolled children with intellectual disability and their parents from ten centres in Germany and Switzerland. ...The …
Our aim was to identify de-novo variants in individuals with sporadic non-syndromic intellectual disability. METHODS: In this …
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