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   Articles with "biedl syndrome" as a keyword



Atypical phenotype of a patient with Bardet–Biedl syndrome type 4

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recommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1869

Abstract: Bardet–Biedl syndrome (BBS) is a multisystemic disorder characterized by rod–cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. There is a large clinical and also genetic… read more here.

Keywords: bardet biedl; atypical phenotype; phenotype patient; biedl syndrome ... See more keywords

Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome

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recommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.521

Abstract: Bardet‐Biedl syndrome (BBS) is an autosomal recessive pleiotropic disorder of the primary cilia that leads to severe visual loss in the teenage years. Approximately 80% of BBS cases are explained by mutations in one of… read more here.

Keywords: insertion novel; bardet biedl; novel mutational; biedl syndrome ... See more keywords
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Ciliopathy: Bardet-Biedl Syndrome.

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recommendations! Published in 2018 at "Advances in experimental medicine and biology"

DOI: 10.1007/978-3-319-95046-4_33

Abstract: Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly,… read more here.

Keywords: bardet biedl; ciliopathy bardet; age; biedl syndrome ... See more keywords

Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant

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recommendations! Published in 2020 at "American Journal of Ophthalmology Case Reports"

DOI: 10.1016/j.ajoc.2020.100914

Abstract: Purpose To present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations. Observations Sequencing analysis revealed a p.Met390Arg pathogenic variant in… read more here.

Keywords: bbs; bardet biedl; analysis; biedl syndrome ... See more keywords

Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support.

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recommendations! Published in 2020 at "European journal of medical genetics"

DOI: 10.1016/j.ejmg.2020.103856

Abstract: This study aimed to explore the parental experiences of having a child with Bardet-Biedl syndrome (BBS) and how parents managed to cope with this situation. Five parents of children with BBS (0-18 years old) participated… read more here.

Keywords: bardet biedl; study; biedl syndrome; child bardet ... See more keywords

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant.

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recommendations! Published in 2019 at "Stem cell research"

DOI: 10.1016/j.scr.2019.101594

Abstract: Bardet-Biedl syndrome (BBS), an autosomal recessive disease, is associated with non-functional primary cilia. BBS5 is part of the protein complex termed the BBSome. The BBSome associates with intra flagellar transport (IFT) particles and mediates trafficking… read more here.

Keywords: bardet biedl; biedl syndrome; stem cell; induced pluripotent ... See more keywords

Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)

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recommendations! Published in 2022 at "ACS Omega"

DOI: 10.1021/acsomega.2c04522

Abstract: Bardet-Biedl Syndrome (BBS) is a rare inherited disorder resulting in multiple organ dysfunctions, whose cardinal clinical features include cognitive impairment, obesity, and renal dysfunction. Although it is highly heterogeneous at genetic levels, BBS10 is one… read more here.

Keywords: bardet biedl; missense variants; bbs10; biedl syndrome ... See more keywords

A novel BBS10 mutation identified in a patient with Bardet–Biedl syndrome with a violent emotional outbreak

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recommendations! Published in 2017 at "Human Genome Variation"

DOI: 10.1038/hgv.2017.33

Abstract: We report a 10-year-old girl with Bardet–Biedl syndrome caused by a novel mutation in the Bardet–Biedl syndrome 10 (BBS10) gene. She had multiple malformations, including a dysmorphic face, postaxial polydactyly, polycystic kidney and amblyopia. She… read more here.

Keywords: bardet biedl; bbs10; mutation; biedl syndrome ... See more keywords

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

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recommendations! Published in 2019 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-019-0347-z

Abstract: Studies of ciliopathies have served in elucidating much of our knowledge of structure and function of primary cilia. We report humans with Bardet-Biedl syndrome who display intellectual disability, retinitis pigmentosa, obesity, short stature and brachydactyly,… read more here.

Keywords: bardet biedl; biedl syndrome; scaper; primary cilia ... See more keywords

Idiopathic intracranial hypertension in a child with Bardet-Biedl syndrome.

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recommendations! Published in 2022 at "Ophthalmic genetics"

DOI: 10.1080/13816810.2022.2050767

Abstract: BACKGROUND Bardet-Biedl syndrome (BBS) is known to be associated with hydrocephalus, but not with idiopathic intracranial hypertension (IIH). Case presentation: We describe such a case and propose the pathogenesis. We also discuss the challenges of… read more here.

Keywords: idiopathic intracranial; biedl syndrome; intracranial hypertension; bardet biedl ... See more keywords

Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature

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recommendations! Published in 2024 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2024.2411257

Abstract: ABSTRACT Introduction Bardet-Biedl Syndrome (BBS) is a ciliopathy causing developmental defects and progressive retinal dystrophy, whereas choroidal coloboma is a developmental defect causing structural deficiency in the posterior retina. Both are rarely reported together. Methods… read more here.

Keywords: chorioretinal coloboma; biedl syndrome; review; coloboma ... See more keywords