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Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D. Miroševič Š, et al. Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564. Int J Mol Sci. 2022. PMID: 36293418 Free PMC article. Review.
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the present study is to systematically review the available data on the prevalence of clinical manifestat …
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and de …
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). Seizures mainly started in the first two years of life (median 22.5 months). …
Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound inte …
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 …
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.
Ng SY, Luk HM, Hau EW, Cheng SS, Yu KP, Ho S, Mok MT, Lo IF. Ng SY, et al. Eur J Med Genet. 2022 Oct;65(10):104573. doi: 10.1016/j.ejmg.2022.104573. Epub 2022 Jul 31. Eur J Med Genet. 2022. PMID: 35918040
Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder with autosomal dominant inheritance. We performed mutation analyses on 123 Chinese patients with "definite TSC" according to the latest diagnostic criteria. Pathogenic / likely-pathogenic va …
Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder with autosomal dominant inheritance. We performed …
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies.
Mishra S, Girisha KM, Shukla A. Mishra S, et al. Clin Dysmorphol. 2021 Jan;30(1):1-5. doi: 10.1097/MCD.0000000000000360. Clin Dysmorphol. 2021. PMID: 33229923 Free PMC article.
Pathogenic variants in PURA are known to cause mental retardation, autosomal dominant 31, characterized by psychomotor delay, absent or poor speech, hypotonia, feeding difficulties, seizures or 'seizure-like' movements, and dysmorphism. ...
Pathogenic variants in PURA are known to cause mental retardation, autosomal dominant 31, characterized by psychomotor delay, …
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.
Tafazoli A, Eshraghi P, Pantaleoni F, Vakili R, Moghaddassian M, Ghahraman M, Muto V, Paolacci S, Golyan FF, Abbaszadegan MR. Tafazoli A, et al. Adv Med Sci. 2018 Mar;63(1):87-93. doi: 10.1016/j.advms.2017.07.001. Epub 2017 Sep 26. Adv Med Sci. 2018. PMID: 28957739
PURPOSE: Noonan Syndrome (NS) is an autosomal dominant disorder with many variable and heterogeneous conditions. ...Following genotype, phenotype correlation, a new pattern of the presence of intellectual disability in two patients was registered. CONC …
PURPOSE: Noonan Syndrome (NS) is an autosomal dominant disorder with many variable and heterogeneous conditions. ...Following …
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
Prasad A, Sdano MA, Vanzo RJ, Mowery-Rushton PA, Serrano MA, Hensel CH, Wassman ER. Prasad A, et al. BMC Med Genet. 2018 Mar 20;19(1):46. doi: 10.1186/s12881-018-0555-3. BMC Med Genet. 2018. PMID: 29554876 Free PMC article.
These patients were referred to our clinical laboratory for a variety of neurodevelopmental conditions including autism spectrum disorder, developmental delay, epilepsy, intellectual disability and microcephaly. RESULTS: In 11.3% (6/53) of cases, the analysis of hom …
These patients were referred to our clinical laboratory for a variety of neurodevelopmental conditions including autism spectrum disorder, d …