PubMed for id: 1890333381

Year	Number of Results
1993	2
1995	1
1997	1
2001	1
2002	2
2003	1
2008	1
2014	1
2020	1
2021	2
2023	1
2024	0

1

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Zacchia M, Blanco FDV, Trepiccione F, Blasio G, Torella A, Melluso A, Capolongo G, Pollastro RM, Piluso G, Di Iorio V, Simonelli F, Viggiano D, Perna A, Nigro V, Capasso G. Zacchia M, et al. J Nephrol. 2021 Dec;34(6):1855-1874. doi: 10.1007/s40620-021-01048-4. Epub 2021 May 8. J Nephrol. 2021. PMID: 33964006 Free PMC article.

2

BBS4 protein has basal body/ciliary localization in sensory organs but extra-ciliary localization in oligodendrocytes during human development.

Bénardais K, Delfino G, Samama B, Devys D, Antal MC, Ghandour MS, Boehm N. Bénardais K, et al. Cell Tissue Res. 2021 Jul;385(1):37-48. doi: 10.1007/s00441-021-03440-9. Epub 2021 Apr 16. Cell Tissue Res. 2021. PMID: 33860840

3

Dlec1 is required for spermatogenesis and male fertility in mice.

Okitsu Y, Nagano M, Yamagata T, Ito C, Toshimori K, Dohra H, Fujii W, Yogo K. Okitsu Y, et al. Sci Rep. 2020 Nov 3;10(1):18883. doi: 10.1038/s41598-020-75957-y. Sci Rep. 2020. PMID: 33144677 Free PMC article.

4

Congenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Gunay-Aygun M, Gahl WA, Heller T. Gunay-Aygun M, et al. 2008 Dec 9 [updated 2014 Apr 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Dec 9 [updated 2014 Apr 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301743 Free Books & Documents. Review.

5

Bardet-Biedl Syndrome Overview.

Forsyth R, Gunay-Aygun M. Forsyth R, et al. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301537 Free Books & Documents. Review.

6

The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene.

Riise R, Tornqvist K, Wright AF, Mykytyn K, Sheffield VC. Riise R, et al. Arch Ophthalmol. 2002 Oct;120(10):1364-7. doi: 10.1001/archopht.120.10.1364. Arch Ophthalmol. 2002. PMID: 12365916

7

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR. Katsanis N, et al. Am J Hum Genet. 2002 Jul;71(1):22-9. doi: 10.1086/341031. Epub 2002 May 15. Am J Hum Genet. 2002. PMID: 12016587 Free PMC article.

8

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC. Mykytyn K, et al. Nat Genet. 2001 Jun;28(2):188-91. doi: 10.1038/88925. Nat Genet. 2001. PMID: 11381270

9

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF. Bruford EA, et al. Genomics. 1997 Apr 1;41(1):93-9. doi: 10.1006/geno.1997.4613. Genomics. 1997. PMID: 9126487

10

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC. Carmi R, et al. Hum Mol Genet. 1995 Jan;4(1):9-13. doi: 10.1093/hmg/4.1.9. Hum Mol Genet. 1995. PMID: 7711739

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