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Quoted phrase not found in phrase index: "Intellectual developmental disorder, autosomal recessive 76"
Page 1
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. ...It is characterized by mild to profound global developmental delay/ …
Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disor …
Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.
Hu P, Yuan L, Deng H. Hu P, et al. Mutat Res Rev Mutat Res. 2018 Oct-Dec;778:45-50. doi: 10.1016/j.mrrev.2018.09.002. Epub 2018 Sep 12. Mutat Res Rev Mutat Res. 2018. PMID: 30454682 Review.
Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defective alpha-dystroglycan glycosylation, later termed muscular dystrophy-dystroglycanopathies (MDDGs). MDDGs are characterized by a …
Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated …
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.
Autosomal recessive HSP are usually associated with diverse additional features (referred to as complicated forms), contrary to autosomal dominant HSP, which are mostly pure. ...In addition, the introduction of next generation sequencing in clinical practice …
Autosomal recessive HSP are usually associated with diverse additional features (referred to as complicated forms), contrary t …
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome.
Abusrair AH, Bohlega S, Al-Semari A, Al-Ajlan FS, Al-Ahmadi K, Mohamed B, AlDakheel A. Abusrair AH, et al. AJNR Am J Neuroradiol. 2018 Dec;39(12):2256-2262. doi: 10.3174/ajnr.A5879. Epub 2018 Nov 8. AJNR Am J Neuroradiol. 2018. PMID: 30409855 Free PMC article.
BACKGROUND AND PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, and progressive extrapyramidal signs. ...RESULTS: All patients had abnormal MR imaging findings. The most comm …
BACKGROUND AND PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal recessive disorder characterized by hypogonadism, …
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 …
Bardet Biedl syndrome in South Africa: A single founder mutation.
Fieggen K, Milligan C, Henderson B, Esterhuizen AI. Fieggen K, et al. S Afr Med J. 2016 May 25;106(6 Suppl 1):S72-4. doi: 10.7196/SAMJ.2016.v106i6.11000. S Afr Med J. 2016. PMID: 27245532
BACKGROUND: Bardet Biedl syndrome (BBS) is a multisystem disorder characterised by obesity, polydactyly, intellectual disability and loss of vision due to a progressive retinopathy. Although typically a highly heterogeneous autosomal recessive d …
BACKGROUND: Bardet Biedl syndrome (BBS) is a multisystem disorder characterised by obesity, polydactyly, intellectual disab …
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.
Nowaczyk MJ, Tan M, Hamid JS, Allanson JE. Nowaczyk MJ, et al. Am J Med Genet A. 2012 May;158A(5):1020-8. doi: 10.1002/ajmg.a.35285. Epub 2012 Mar 21. Am J Med Genet A. 2012. PMID: 22438180
Smith-Lemli-Opitz syndrome (SLOS), is an autosomal recessive condition caused by cholesterol synthesis deficiency which results in a wide phenotypic spectrum which includes multiple malformations, distinctive facial appearance, and intellectual disability …
Smith-Lemli-Opitz syndrome (SLOS), is an autosomal recessive condition caused by cholesterol synthesis deficiency which result …
Clinical whole exome sequencing in child neurology practice.
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Srivastava S, et al. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30. Ann Neurol. 2014. PMID: 25131622
RESULTS: The overall presumptive diagnostic rate for our cohort was 41% (n = 32 of 78 patients). Nineteen patients had a single autosomal dominant (AD) disorder, 11 had a single autosomal recessive (AR) disorder, 1 had an X-linked dominant di …
RESULTS: The overall presumptive diagnostic rate for our cohort was 41% (n = 32 of 78 patients). Nineteen patients had a single autosomal …
Autosomal-recessive omodysplasia: prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones.
Borochowitz Z, Sabo E, Misselevitch I, Boss JH. Borochowitz Z, et al. Am J Med Genet. 1998 Mar 19;76(3):238-44. doi: 10.1002/(sici)1096-8628(19980319)76:3<238::aid-ajmg7>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9508243
Based on the clinical and postmortem radiological findings, autosomal-recessive omodysplasia was diagnosed. The physeal plates of the long tubular bones were assessed by computer-assisted image analysis. ...We propose that a genetic, functional deficiency of the phy …
Based on the clinical and postmortem radiological findings, autosomal-recessive omodysplasia was diagnosed. The physeal plates …
Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.
Müller vom Hagen J, Karle KN, Schüle R, Krägeloh-Mann I, Schöls L. Müller vom Hagen J, et al. Eur J Neurol. 2014 Jul;21(7):983-8. doi: 10.1111/ene.12423. Epub 2014 Apr 2. Eur J Neurol. 2014. PMID: 24698313
METHODS: Seventy-six index patients presenting with adult-onset lower limb spasticity of unknown cause consistent with autosomal recessive inheritance were included in this study. Screening included serum levels of very long chain fatty acids for X-linked adrenoleuk …
METHODS: Seventy-six index patients presenting with adult-onset lower limb spasticity of unknown cause consistent with autosomal r …
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