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Quoted phrase not found in phrase index: "Intellectual developmental disorder, autosomal recessive 74"
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 …
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 …
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease.
Srinath A, Shneider BL. Srinath A, et al. J Pediatr Gastroenterol Nutr. 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7. J Pediatr Gastroenterol Nutr. 2012. PMID: 22197937 Free PMC article. Review.
OBJECTIVES: The published natural history of congenital hepatic fibrosis (CHF) was examined to inform clinical decision making in autosomal recessive polycystic kidney disease (ARPKD). METHODS: A systematic literature search of the data on CHF, ARPKD, Caroli disease …
OBJECTIVES: The published natural history of congenital hepatic fibrosis (CHF) was examined to inform clinical decision making in autosom …
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 …
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.
Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F. Bohlega S, et al. Parkinsonism Relat Disord. 2019 Dec;69:99-103. doi: 10.1016/j.parkreldis.2019.10.007. Epub 2019 Oct 13. Parkinsonism Relat Disord. 2019. PMID: 31726291
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disease with characteristic neuro-endocrine manifestations. ...Dystonia was the most common neurological manifestation (67%), followed by intellectual disability (45%) and sensor …
BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disease with characteristic neuro-endocrine manifest …
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.
Touati A, Nouri S, Halleb Y, Kmiha S, Mathlouthi J, Tej A, Mahdhaoui N, Ben Ahmed A, Saad A, Bensignor C, H'mida Ben Brahim D. Touati A, et al. Arch Pediatr. 2019 Feb;26(2):102-107. doi: 10.1016/j.arcped.2018.11.012. Epub 2019 Jan 10. Arch Pediatr. 2019. PMID: 30638765 Review.
BACKGROUND AND OBJECTIVES: Sanjad-Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almost exclusively in people of Arab origin. ...Reviewing the literature, we suggest a scoring system that assigns one point each for major crite …
BACKGROUND AND OBJECTIVES: Sanjad-Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almos …
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 …
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Matern D, et al. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. Pediatrics. 2003. PMID: 12837870 Review.
OBJECTIVE: 2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a recently described autosomal recessive disorder of L-isoleucine metabolism. Only 4 affected individuals in 2 families h …
OBJECTIVE: 2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a …
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
Pop A, Smith DEC, Kirby T, Walters D, Gibson KM, Mahmoudi S, van Dooren SJM, Kanhai WA, Fernandez-Ojeda MR, Wever EJM, Koster J, Waterham HR, Grob B, Roos B, Wamelink MMC, Chen J, Natesan S, Salomons GS. Pop A, et al. Mol Genet Metab. 2020 Jul;130(3):172-178. doi: 10.1016/j.ymgme.2020.04.004. Epub 2020 May 4. Mol Genet Metab. 2020. PMID: 32402538 Free article.
Deficiency of succinate semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5a1 (ALDH5A1), OMIM 271980, 610045), the second enzyme of GABA degradation, represents a rare autosomal-recessively inherited disorder which manifests metabolically as gamma-hyd …
Deficiency of succinate semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5a1 (ALDH5A1), OMIM 271980, 610045), the second enzyme of …
Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies.
Adams HR, Kwon J, Marshall FJ, de Blieck EA, Pearce DA, Mink JW. Adams HR, et al. J Child Neurol. 2007 May;22(5):621-7. doi: 10.1177/0883073807302603. J Child Neurol. 2007. PMID: 17690071 Free PMC article.
Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a progressive and fatal autosomal-recessive inherited lysosomal storage disorder of childhood. ...Results thus far indicate significant impairment in domains of auditory attention, memory, estimated …
Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a progressive and fatal autosomal-recessive inherited lysosomal st …
15 results