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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Syndrome and BBS10[original query]
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
The Journal of clinical endocrinology and metabolism 2011 Mar 96 (3): E528-35.
Feuillan Penelope P, Ng David, Han Joan C, Sapp Julie C, Wetsch Katie, Spaulding Emma, Zheng Yuqian C, Caruso Rafael C, Brooks Brian P, Johnston Jennifer J, Yanovski Jack A, Biesecker Leslie
Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.
Clinical genetics 2015 Apr 87 (4): 343-9.
Forsythe E, Sparks K, Hoskins B E, Bagkeris E, McGowan B M, Carroll P V, Huda M S B, Mujahid S, Peters C, Barrett T, Mohammed S, Beales P
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
American journal of human genetics 2014 Nov 95 (5): 509-20.
Lim Elaine T, Liu Yangfan P, Chan Yingleong, Tiinamaija Tuomi, Käräjämäki AnnMari, Madsen Erik, , Altshuler David M, Raychaudhuri Soumya, Groop Leif, Flannick Jason, Hirschhorn Joel N, Katsanis Nicholas, Daly Mark
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey.
Annals of human genetics 2020 7 85 (1): 27-36.
Gumus Evren, Tuncez Ebru, Oz Ozlem, Saka Guvenc Mer
Kidney failure in Bardet-Biedl syndrome.
Clinical genetics 2022 2 101 (4): 429-441.
Meyer Jennifer R, Krentz Anthony D, Berg Richard L, Richardson Jesse G, Pomeroy Jeremy, Hebbring Scott J, Haws Robert
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
American journal of medical genetics. Part A 2023 6 .
Sheraz Khan, Ina Ofelia Foc?a, Magdalena Budi?teanu, Cristina Stoica, Florina Nedelea, Lauren?iu Bohîl?ea, Lavinia Caba, L?cr?mioara Butnariu, Monica Pânzaru, Cristina Rusu, Claudia Jurc?, Adela Chirita-Emandi, Claudia B?nescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela B?lgr?dean, Erica E Dav
Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.
Frontiers in genetics 2024 8 15 1419025.
M Orlova, P Gundorova, V Kadnikova, A Polyak
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Orphanet journal of rare diseases 2024 4 19 (1): 149.
Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-En Yao, Tingting Yu, Guoying Chang, Xiumin Wa
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