Results 31 to 40 of about 2,206,324 (288)

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. [PDF]

J Med Genet, 2023
Background Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ‘molar tooth sign’. Over 40 JS-associated genes are known, accounting for two-thirds of cases.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM.   +27 more
europepmc   +2 more sources

Capillary Hemangioma in Joubert Syndrome: A Case Report. [PDF]

Cureus, 2023
A baby girl who underwent cesarean section delivery and had a complicated postnatal course requiring neonatal intensive care unit (NICU) is followed in the pediatrics clinic for several months.
Nassim HM, Alabdulqader RA, Najmi H, Alsawadi HM, Alotaibi HA.   +4 more
europepmc   +2 more sources

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome. [PDF]

BMC Med Genomics, 2023
Background KIAA0586 , also known as Talpid3 , plays critical roles in primary cilia formation and hedgehog signaling in humans. Variants in KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), which is a clinically and ...
Shen Y, Lu C, Cheng T, Cao Z, Chen C, Ma X, Gao H, Luo M.   +7 more
europepmc   +2 more sources

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome. [PDF]

Eur J Hum Genet
Joubert syndrome (JS) is a genetically heterogeneous neurodevelopmental ciliopathy. Despite exome sequencing (ES), several patients remain undiagnosed.
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM.   +25 more
europepmc   +2 more sources

A novel non-sense variant in the OFD1 gene caused Joubert syndrome. [PDF]

Front Genet, 2022
Background: Joubert syndrome (JBS) is a rare neurodevelopmental disorder associated with progressive renal, liver, and retinal involvement that exhibits heterogeneity in both clinical manifestations and genetic etiology.
Li C, Wang X, Li F, Ding H, Liu L, Xiong Y, Yang C, Zhang Y, Wu J, Yin A.   +9 more
europepmc   +2 more sources

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses [PDF]

Balkan Med J
Background: The fetal monogenic causes of early pregnancy losses (EPLs) are mainly unknown, with only a few articles on the subject published. In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of ...
Bozhinovski G, Terzikj M, Kubelka-Sabit K, Plaseska-Karanfilska D.   +3 more
europepmc   +2 more sources

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro. [PDF]

Cell Tissue Res
Joubert syndrome (JS) is a recessively inherited congenital ataxia characterized by hypotonia, psychomotor delay, abnormal ocular movements, intellectual disability, and a peculiar cerebellar and brainstem malformation, the "molar tooth sign." Over 40 ...
De Mori R, Tardivo S, Pollara L, Giliani SC, Ali E, Giordano L, Leuzzi V, Fischetto R, Gener B, Diprima S, Morelli MJ, Monti MC, Sottile V, Valente EM.   +13 more
europepmc   +2 more sources

Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway. [PDF]

J Cell Mol Med
ABSTRACT Joubert syndrome (JS) is a rare neurodevelopmental disorder associated with mutations in genes involved in ciliary function. Germline variants in CPLANE1 have been implicated in JS. In this study, we investigated a family with three adverse pregnancies characterised by fetal malformations consistent with JS.
Hong Z, Xiang S, Chen Z, Qiu X, Zhang L, Ma L, Wang M.   +6 more
europepmc   +2 more sources

Genotype-phenotype correlates in Joubert syndrome: A review. [PDF]

Am J Med Genet C Semin Med Genet, 2022
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable organ involvement.
Gana S, Serpieri V, Valente EM.
europepmc   +2 more sources

Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome. [PDF]

Open Life Sci, 2023
Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were analyzed in a 2-month-old patient.
Wang H, Nie W, Wang C, Wang Z, Zheng Y.
europepmc   +2 more sources