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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 1, 2023. (Total: 217488Documents)
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Records 1 - 11 (of 11 Records)

Query Trace: Bardet-Biedl Syndrome and BBS1[original query]
Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 2004 May 28 (5): 680-4.
Fan Y, Rahman P, Peddle L, Hefferton D, Gladney N, Moore SJ, Green JS, Parfrey PS, Davidson WS
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.
Diabetes 2006 Oct 55 (10): 2876-82.
Benzinou Michael, Walley Andrew, Lobbens Stephan, Charles Marie-Aline, Jouret Béatrice, Fumeron Frédéric, Balkau Beverley, Meyre David, Froguel Philip
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
Human mutation 2009 Jul 30 (7): E737-46.
Bin Jenea, Madhavan Jagadeesan, Ferrini Walter, Mok Calvin A, Billingsley Gail, Héon Eli
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
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Archives of ophthalmology (Chicago, Ill. : 1960) 2012 Nov 130 (11): 1425-32.
Estrada-Cuzcano Alejandro, Koenekoop Robert K, Senechal Audrey, De Baere Elfride B W, de Ravel Thomy, Banfi Sandro, Kohl Susanne, Ayuso Carmen, Sharon Dror, Hoyng Carel B, Hamel Christian P, Leroy Bart P, Ziviello Carmela, Lopez Irma, Bazinet Alexandre, Wissinger Bernd, Sliesoraityte Ieva, Avila-Fernandez Almudena, Littink Karin W, Vingolo Enzo M, Signorini Sabrina, Banin Eyal, Mizrahi-Meissonnier Liliana, Zrenner Eberhard, Kellner Ulrich, Collin Rob W J, den Hollander Anneke I, Cremers Frans P M, Klevering B Jero
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
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
American journal of human genetics 2016 Aug 99 (2): 318-36.
Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clinical genetics 2020 Nov .
Delvallée Clarisse, Nicaise Samuel, Antin Manuela, Leuvrey Anne-Sophie, Nourisson Elsa, Leitch Carmen C, Kellaris Georgios, Stoetzel Corinne, Geoffroy Véronique, Scheidecker Sophie, Keren Boris, Depienne Christel, Klar Joakim, Dahl Niklas, Deleuze Jean-François, Génin Emmanuelle, Redon Richard, Demurger Florence, Devriendt Koenraad, Mathieu-Dramard Michèle, Poitou-Bernert Christine, Odent Sylvie, Katsanis Nicholas, Mandel Jean-Louis, Davis Erica E, Dollfus Hélène, Muller Je
A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.
Clinical ophthalmology (Auckland, N.Z.) 2021 15 3757-3764.
Guardiola Gabriel A, Ramos Fabiola, Izquierdo Natalio J, Oliver Armando
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
NPJ genomic medicine 2022 7 7 (1): 41.
Perea-Romero Irene, Solarat Carlos, Blanco-Kelly Fiona, Sanchez-Navarro Iker, Bea-Mascato Brais, Martin-Salazar Eduardo, Lorda-Sanchez Isabel, Swafiri Saoud Tahsin, Avila-Fernandez Almudena, Martin-Merida Inmaculada, Trujillo-Tiebas Maria Jose, Carreño Ester, Jimenez-Rolando Belen, Garcia-Sandoval Blanca, Minguez Pablo, Corton Marta, Valverde Diana, Ayuso Carm
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.
European journal of human genetics : EJHG 2022 12 .
Belanger Deloge Raymond, Zhao Xiaonan, Luna Pamela N, Shaw Chad A, Rosenfeld Jill A, Scott Daryl
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