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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 28"
Page 1
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 …
Clinical implications of de Barsy syndrome.
Warner LL, Olsen DA, Smith HM. Warner LL, et al. Paediatr Anaesth. 2018 Jan;28(1):59-62. doi: 10.1111/pan.13283. Epub 2017 Nov 17. Paediatr Anaesth. 2018. PMID: 29148179
BACKGROUND: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability. ...
BACKGROUND: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophth …
Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.
Yunisova G, Tufekcioglu Z, Dogu O, Bilgic B, Kaleagasi H, Akca Kalem S, Lohmann E, Gurvit HI, Emre M, Hanagasi HA. Yunisova G, et al. Neurodegener Dis. 2019;19(5-6):218-224. doi: 10.1159/000506770. Epub 2020 Apr 29. Neurodegener Dis. 2019. PMID: 32349000
OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. ...RESULTS: All patients were diagnosed with CTX after neurological symptom development, and their m …
OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pa …
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S. Létard P, et al. Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16. Hum Mutat. 2018. PMID: 29243349 Free article.
Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard deviations or …
Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental d …
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y. Lin L, et al. Orphanet J Rare Dis. 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. Orphanet J Rare Dis. 2020. PMID: 33176815 Free PMC article.
BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one of the most common phenotypes in neurogenetic diseases. ...The most common inheritance patterns in this outbred Chinese population were au …
BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one o …
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
Echaniz-Laguna A, Altuzarra C, Verloes A, De La Banda MGG, Quijano-Roy S, Tudorache RA, Jaxybayeva A, Myrzaliyeva B, Tazir M, Vallat JM, Francou B, Urtizberea JA. Echaniz-Laguna A, et al. Neurogenetics. 2021 Oct;22(4):333-341. doi: 10.1007/s10048-021-00668-z. Epub 2021 Aug 17. Neurogenetics. 2021. PMID: 34405299
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease resulting from mutations in the NTRK1 gene encoding the neurotrophic tyrosine kinase-1 receptor. ...Mean age at diagnosis was 4.8 months (3-6), and all patients presented w …
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease resulting from mutations in the …
Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
Kalmár T, Maróti Z, Zimmermann A, Sztriha L. Kalmár T, et al. Brain Dev. 2021 Jan;43(1):144-151. doi: 10.1016/j.braindev.2020.07.015. Epub 2020 Aug 11. Brain Dev. 2021. PMID: 32798076 Free article.
ALDH18A1-related disorders have been classified into four groups, such as autosomal dominant and recessive hereditary spastic paraplegia (SPG9A and SPG9B, respectively), as well as autosomal dominant and recessive cutis laxa (ADCL3 and ARCL3A, respecti …
ALDH18A1-related disorders have been classified into four groups, such as autosomal dominant and recessive hereditary spastic …
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.
Forsythe E, Sparks K, Best S, Borrows S, Hoskins B, Sabir A, Barrett T, Williams D, Mohammed S, Goldsmith D, Milford DV, Bockenhauer D, Foggensteiner L, Beales PL. Forsythe E, et al. J Am Soc Nephrol. 2017 Mar;28(3):963-970. doi: 10.1681/ASN.2015091029. Epub 2016 Sep 22. J Am Soc Nephrol. 2017. PMID: 27659767 Free PMC article.
Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism. ...
Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformatio …
Congenital hypothyroidism. Aetiological and clinical aspects.
Mäenpää J. Mäenpää J. Arch Dis Child. 1972 Dec;47(256):914-23. doi: 10.1136/adc.47.256.914. Arch Dis Child. 1972. PMID: 4119068 Free PMC article.
Athyrosis was found in 5 boys and 16 girls (31%), maldevelopment of thyroid gland in 1 boy and 2 girls (5%), ectopic gland in 4 boys and 20 girls (36%), and dyshormonogenesis in 7 boys and 12 girls (28%). In the last-mentioned group, organic binding of iodide was defective …
Athyrosis was found in 5 boys and 16 girls (31%), maldevelopment of thyroid gland in 1 boy and 2 girls (5%), ectopic gland in 4 boys and 20 …
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 disorder, and 1 had …
RESULTS: The overall presumptive diagnostic rate for our cohort was 41% (n = 32 of 78 patients). Nineteen patients had a single autosomal …
19 results