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Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report.
Michelen-Gómez E, Guardiola-Dávila G, Izquierdo NJ. Michelen-Gómez E, et al. P R Health Sci J. 2021 Sep;40(3):151-154. P R Health Sci J. 2021. PMID: 34792930
Clinical and ophthalmic examination revealed retinal dystrophy, polydactyly, and very mild learning disabilities. No additional systemic complications commonly observed in patients with the BBS were present. Allele-specific testing and DNA sequencing revealed compound hete …
Clinical and ophthalmic examination revealed retinal dystrophy, polydactyly, and very mild learning disabilities. No additional systemic com …
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR. Katsanis N, et al. Am J Hum Genet. 1999 Dec;65(6):1672-9. doi: 10.1086/302684. Am J Hum Genet. 1999. PMID: 10577921 Free PMC article.
Loss of identity by descent in two consanguineous pedigrees was also observed in the region, potentially refining the region to 1.8 Mb between D11S1883 and D11S4944. ...
Loss of identity by descent in two consanguineous pedigrees was also observed in the region, potentially refining the region to 1.8 M …
Definable somatic disorders in overweight children and adolescents.
Reinehr T, Hinney A, de Sousa G, Austrup F, Hebebrand J, Andler W. Reinehr T, et al. J Pediatr. 2007 Jun;150(6):618-22, 622.e1-5. doi: 10.1016/j.jpeds.2007.01.042. J Pediatr. 2007. PMID: 17517246
RESULTS: Endocrine or syndromal disorders were diagnosed in 13 children (<1%; 4 with hypothyroidism, 1 with Cushing's syndrome, 1 with growth hormone deficiency, 2 with pseudohypoparathyroidism, 1 with pseudopseudohypoparathyroidism, 2 with Prader-Willi syndrome, 1 with Bar …
RESULTS: Endocrine or syndromal disorders were diagnosed in 13 children (<1%; 4 with hypothyroidism, 1 with Cushing's syndrome, 1 with gr …
Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval.
Fan Y, Green JS, Ross AJ, Beales PL, Parfrey PS, Davidson WS. Fan Y, et al. Hum Genet. 2005 Jan;116(1-2):62-71. doi: 10.1007/s00439-004-1184-9. Epub 2004 Oct 23. Hum Genet. 2005. PMID: 15517396
A linkage disequilibrium (LD) study involving six Newfoundland families predicted a critical interval for Bardet-Biedl syndrome 1 (BBS1) (Young et al. in Am J Hum Genet 65:1680-1687, 1999), but the subsequent identification of BBS1 revealed that …
A linkage disequilibrium (LD) study involving six Newfoundland families predicted a critical interval for Bardet-Biedl …