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2003 1
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Page 1
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 …
Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.
Shang S, Mei Y, Wang T, Zheng X, Chen K, Xiong S, Dong Y, Chang Y, Wu X, Kong X, Tan M, Wu L, Zhang Y, Xiao Y, Xie Y, Cai G, Chen X, Li Q. Shang S, et al. Clin Nephrol. 2022 Jun;97(6):328-338. doi: 10.5414/CN110476. Clin Nephrol. 2022. PMID: 35142283
Deletions involving the TSC2 and PKD1 genes lead to tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD), which is known as TSC2-PKD1 contiguous gene deletion syndrome (PKDTS). ...We found that many PKDTS patients have the follow …
Deletions involving the TSC2 and PKD1 genes lead to tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney …
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
Gardella E, Møller RS. Gardella E, et al. Epilepsia. 2019 Dec;60 Suppl 3:S77-S85. doi: 10.1111/epi.16319. Epilepsia. 2019. PMID: 31904124
Electroencephalograms (EEGs) show progressive background deterioration and multifocal abnormalities, predominant in the posterior regions. (2) Sporadic and familial patients with mild-to-moderate intellectual disability, discrete neurological signs, and treatable ep …
Electroencephalograms (EEGs) show progressive background deterioration and multifocal abnormalities, predominant in the posterior regions. ( …
Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.
Ricciardello A, Tomaiuolo P, Persico AM. Ricciardello A, et al. Am J Med Genet A. 2021 Jul;185(7):2211-2233. doi: 10.1002/ajmg.a.62222. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949759 Free PMC article. Review.
Phelan-McDermid syndrome (PMS, OMIM #606232), also known as chromosome 22q13 deletion syndrome, is a rare genetic disorder characterized by intellectual disability, hypotonia, delayed or absent speech, motor impairment, autism spectrum disorder, behavioral anomalies …
Phelan-McDermid syndrome (PMS, OMIM #606232), also known as chromosome 22q13 deletion syndrome, is a rare genetic disorder characterized by …
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 …
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
Sheth H, Pancholi D, Bhavsar R, Mannan AU, Ganapathy A, Chowdhury M, Shah S, Solanki D, Sheth F, Sheth J. Sheth H, et al. Neurol India. 2021 Nov-Dec;69(6):1729-1736. doi: 10.4103/0028-3886.333475. Neurol India. 2021. PMID: 34979677 Free article.
MATERIALS AND METHODS: A cohort of 19 idiopathic patients with neurological phenotypes, primarily intellectual disability and developmental delay, were recruited. CES covering 4620 genes was performed on all patients. ...Fifteen variants were reported previously and …
MATERIALS AND METHODS: A cohort of 19 idiopathic patients with neurological phenotypes, primarily intellectual disability and …
Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
Nguyen DB, Khirani S, Griffon L, Baujat G, Michot C, Marzin P, Rondeau S, Luscan R, Couloigner V, Pejin Z, Zerah M, Cormier-Daire V, Fauroux B. Nguyen DB, et al. Am J Med Genet A. 2021 Jul;185(7):2108-2118. doi: 10.1002/ajmg.a.62236. Epub 2021 Apr 28. Am J Med Genet A. 2021. PMID: 33908178
Polygraphic data, clinical management, and patients' outcome were analyzed. Thirty-one patients were included (8 SEDC, 3 MD, 4 SEMD, 1 ADO, 4 GD, 3 AD, and 8 SCD). Sixteen patients had obstructive sleep apnea (OSA): 11 patients (2 with SEDC, 1 with SEMD, 1 wi …
Polygraphic data, clinical management, and patients' outcome were analyzed. Thirty-one patients were included (8 SEDC, 3 MD, 4 SEMD, 1 …
Neuropsychiatric Manifestations of Tuberous Sclerosis and Management Options: A Narrative Review.
Gupta P, Spoorthy MS, Raikar PR. Gupta P, et al. Prim Care Companion CNS Disord. 2024 Jan 4;26(1):22nr03481. doi: 10.4088/PCC.22nr03481. Prim Care Companion CNS Disord. 2024. PMID: 38198710 Free article. Review.
Observation: Ninety percent of individuals with tuberous sclerosis have associated neuropsychiatric manifestations including attention-deficit/hyperactivity disorder, autism spectrum disorder, and intellectual disability, which are typically underidentified and unde …
Observation: Ninety percent of individuals with tuberous sclerosis have associated neuropsychiatric manifestations including attention-defic …
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
Diomedi M, Gan-Or Z, Placidi F, Dion PA, Szuto A, Bengala M, Rouleau GA, Gigli GL. Diomedi M, et al. Eur J Med Genet. 2016 Nov;59(11):564-568. doi: 10.1016/j.ejmg.2016.10.003. Epub 2016 Oct 8. Eur J Med Genet. 2016. PMID: 27725288
Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) was initially described in the early 90s as a sporadic clinical condition, characterized by seizures, motor and intellectual impairment with variable clinical presentation, and without a known genetic cause …
Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) was initially described in the early 90s as a sporadic clinical condition …
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. ...
Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder with autosomal dominant inheritance. We performed …
15 results