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Quoted phrase not found in phrase index: "Bardet-Biedl syndrome 14"
Page 1
Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies.
Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L. Cai M, et al. Exp Biol Med (Maywood). 2023 May;248(10):858-865. doi: 10.1177/15353702231164933. Epub 2023 May 19. Exp Biol Med (Maywood). 2023. PMID: 37208928 Free PMC article.
Identification of the molecular etiology could provide a basis for prenatal diagnosis, consultation, and prognosis evaluation for MCDK fetuses. We used chromosome microarray analysis (CMA) and whole-exome sequencing (WES) to conduct genetic tests on MCDK fetuses and explor …
Identification of the molecular etiology could provide a basis for prenatal diagnosis, consultation, and prognosis evaluation for MCD …
Atypical patterns of inheritance.
Gropman AL, Adams DR. Gropman AL, et al. Semin Pediatr Neurol. 2007 Mar;14(1):34-45. doi: 10.1016/j.spen.2006.11.007. Semin Pediatr Neurol. 2007. PMID: 17331882 Review.
The incomplete prediction of clinical phenotype from genotype in monogenic disorders assumes other complex mechanisms are responsible. ...Specifically, this review will focus on cystic fibrosis, Huntington's disease, sensory neural deafness due to Connexin gene mutations, …
The incomplete prediction of clinical phenotype from genotype in monogenic disorders assumes other complex mechanisms are responsible …
Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generationsequencing.
Deng L, Liu Y, Yuan M, Meng M, Yang Y, Sun L. Deng L, et al. Clin Chim Acta. 2022 Mar 1;528:16-28. doi: 10.1016/j.cca.2022.01.012. Epub 2022 Jan 20. Clin Chim Acta. 2022. PMID: 35065907
BACKGROUND: Fetalhyperechogenickidneys (HEK)are associated with a wide range of etiologies and prognoses. Prenatal counselling and management can be extremely challenging, especially for isolated HEK. ...
BACKGROUND: Fetalhyperechogenickidneys (HEK)are associated with a wide range of etiologies and prognoses. Prenatal counselling and ma …
Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
Suárez-González J, Seidel V, Andrés-Zayas C, Izquierdo E, Buño I. Suárez-González J, et al. BMC Med Genomics. 2021 Mar 26;14(1):91. doi: 10.1186/s12920-021-00943-w. BMC Med Genomics. 2021. PMID: 33771153 Free PMC article.
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. ...Expression analysis using mRNA levels to assess the functional impact of the novel variant demonstrated skipping of exon 7 in the affected alleles, suggesting a trun …
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. ...Expression analysis using …
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
Rao AR, Nazir A, Imtiaz S, Paracha SA, Waryah YM, Ujjan ID, Anwar I, Iqbal A, Santoni FA, Shah I, Gul K, Baig HMA, Waryah AM, Antonarakis SE, Ansar M. Rao AR, et al. Genes (Basel). 2023 Feb 3;14(2):404. doi: 10.3390/genes14020404. Genes (Basel). 2023. PMID: 36833331 Free PMC article.
This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. ...Whole exome sequencing was conducted on one affected individual from each family. The computational functional analysis predicted the v …
This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. ...Wh …
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN). König J, et al. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1974-1983. doi: 10.2215/CJN.01280217. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146700 Free PMC article.
DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www.nephreg.de) to assess the clinical course of patients with nephronophthisis and related ciliopathies on a yearly base. ...
DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www.nephreg.de) to assess the clinical course …
Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS).
Torrefranca AB, Santiago APD, Lingao MD, Racoma MJC. Torrefranca AB, et al. Ophthalmic Genet. 2020 Dec;41(6):621-624. doi: 10.1080/13816810.2020.1810282. Epub 2020 Aug 19. Ophthalmic Genet. 2020. PMID: 32811249
PURPOSE: Bardet-Biedl syndrome (BBS) is rare in the Philippines and only limited information on the prevalent subtypes is available as yet. ...CONCLUSION: These are probably the first reported BBS5 mutations causing Bardet-Biedl syndrome …
PURPOSE: Bardet-Biedl syndrome (BBS) is rare in the Philippines and only limited information on the prevalent subtypes …
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K, Ellingford JM, Carmichael J, Brittain H, Toomes C, Inglehearn C, Johnson CA, Wheway G; Genomics England Research Consortium. Best S, et al. J Med Genet. 2022 Aug;59(8):737-747. doi: 10.1136/jmedgenet-2021-108065. Epub 2021 Oct 29. J Med Genet. 2022. PMID: 34716235 Free PMC article.
METHODS: Eighty-three prescreened probands were recruited to the 100,000 Genomes Project suspected to have congenital malformations caused by ciliopathies in the following disease categories: Bardet-Biedl syndrome (n=45), Joubert syndrome (n=14) and 'R …
METHODS: Eighty-three prescreened probands were recruited to the 100,000 Genomes Project suspected to have congenital malformations caused b …
The cause of death in Laurence-Moon-Bardet-Biedl syndrome.
Riise R. Riise R. Acta Ophthalmol Scand Suppl. 1996;(219):45-7. doi: 10.1111/j.1600-0420.1996.tb00385.x. Acta Ophthalmol Scand Suppl. 1996. PMID: 8741118
The certificates of death of 14 deceased patients with Laurence-Moon-Bardet-Biedl (LMBB) syndrome, in which retinal dystrophy is dominant feature, were review. ...It is concluded that renal involvement is characteristic of individuals with LMBB syndrome …
The certificates of death of 14 deceased patients with Laurence-Moon-Bardet-Biedl (LMBB) syndrome, in which retinal dys …
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS. Abu Safieh L, et al. J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19858128
Bardet-Biedl syndrome (BBS) is a ciliopathy with pleiotropic effect that manifests primarily as renal insufficiency, polydactyly, retinal dystrophy and obesity. The current phenotype-genotype correlation is insufficient to predict the likely causative …
Bardet-Biedl syndrome (BBS) is a ciliopathy with pleiotropic effect that manifests primarily as renal insufficiency, po …
16 results