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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 9"
Page 1
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R. Reuter MS, et al. JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. JAMA Psychiatry. 2017. PMID: 28097321
IMPORTANCE: Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. ...DESIGN, SETTING, AND PARTICIPANTS: Autozygosity mapping in families and exome sequencing of index pat …
IMPORTANCE: Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of t …
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Up to now, 9 patients have been described …
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, …
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Nagarajan B, et al. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. Epilepsia Open. 2023. PMID: 37583270 Free PMC article.
Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant-55.2%, recessive-14.2%), while the rest had X-linked inheritance. ...Seizures other than epileptic spasms were observed in 83 children (66.9%). Pre-existing epilepsy s …
Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant-55.2%, recessive-14.2%), while the …
Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.
Masri AT, Oweis L, Ali M, Hamamy H. Masri AT, et al. Clin Neurol Neurosurg. 2023 Jul;230:107799. doi: 10.1016/j.clineuro.2023.107799. Epub 2023 May 22. Clin Neurol Neurosurg. 2023. PMID: 37236004
AIMS: To report the diagnostic yield of clinical singleton whole exome sequencing (WES) performed among a group of Jordanian children presenting with global developmental delay /intellectual disability (GDD/ID), discuss the underlying identified genetic disorders an …
AIMS: To report the diagnostic yield of clinical singleton whole exome sequencing (WES) performed among a group of Jordanian children presen …
Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?
Abdul Ghani S, Burney S, Ul Hussain H, Abdul Wahid M, Mumtaz H. Abdul Ghani S, et al. Int J Surg. 2023 Sep 1;109(9):2882-2885. doi: 10.1097/JS9.0000000000000528. Int J Surg. 2023. PMID: 37352513 Free PMC article.
Alpha-mannosidosis (AM) is an autosomal recessive lysosomal storage disorder caused by reduced activity of the enzyme alpha-mannosidase. The disease is characterized by immunodeficiency, facial and skeletal abnormalities, impaired hearing, and intellectual …
Alpha-mannosidosis (AM) is an autosomal recessive lysosomal storage disorder caused by reduced activity of the enzyme alpha-ma …
Pseudoaminopterin syndrome.
Kraoua L, Capri Y, Perrin L, Benmansour A, Verloes A. Kraoua L, et al. Am J Med Genet A. 2012 Sep;158A(9):2233-8. doi: 10.1002/ajmg.a.35212. Epub 2012 Jul 18. Am J Med Genet A. 2012. PMID: 22811276
Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and growth retardation. ...
Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessiv …
Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review.
Mir YR, Kuchay RAH. Mir YR, et al. J Med Genet. 2019 Sep;56(9):567-573. doi: 10.1136/jmedgenet-2018-105821. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842223 Review.
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%-3% of the general population. ...The total number of autosomal recessive ID (ARID) genes is estimated to be very high, and most are still unknown. ...
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%-3% of the general population …
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.
Restrepo-Vera JL, Muñoz-Cabello P, Pérez-Rodon J, Rovira-Moreno E, Codina-Solà M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, García-Arumí E, Juntas-Morales R. Restrepo-Vera JL, et al. Neuromuscul Disord. 2023 Jun;33(6):463-467. doi: 10.1016/j.nmd.2023.02.010. Epub 2023 Feb 23. Neuromuscul Disord. 2023. PMID: 37119590
TANGO2-related disease is an autosomal recessive multisystem disease associated with developmental delay and infancy-onset recurrent metabolic crises with early mortality. ...We report a 40-year-old woman affected by limb-girdle weakness and mild intellectual …
TANGO2-related disease is an autosomal recessive multisystem disease associated with developmental delay and infancy-onset rec …
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE. Taşkıran EZ, et al. J Intellect Disabil Res. 2021 Jun;65(6):577-588. doi: 10.1111/jir.12835. Epub 2021 Mar 19. J Intellect Disabil Res. 2021. PMID: 33739554
BACKGROUND: Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians. ...Twenty-two (75.8%) were consanguineously married; however, only 12 (41.4%) of the detected genes caused autosomal recess …
BACKGROUND: Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clini …
Psychiatric manifestations in cerebrotendinous xanthomatosis.
Fraidakis MJ. Fraidakis MJ. Transl Psychiatry. 2013 Sep 3;3(9):e302. doi: 10.1038/tp.2013.76. Transl Psychiatry. 2013. PMID: 24002088 Free PMC article. Review.
Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with autosomal recessive inheritance and variable clinical presentation. CTX treatment consists of chenodeoxycholic acid and must b …
Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with …
119 results