Works matching DE "LAURENCE-Moon-Biedl syndrome"

Results: 417
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    Urine concentrating defect as presenting sign of progressive renal failure in Bardet–Biedl syndrome patients.

    Published in:
    Clinical Kidney Journal, 2021, v. 14, n. 6, p. 1545, doi. 10.1093/ckj/sfaa182
    By:
    • Zacchia, Miriam;
    • Blanco, Francesca Del Vecchio;
    • Torella, Annalaura;
    • Raucci, Raffaele;
    • Blasio, Giancarlo;
    • Onore, Maria Elena;
    • Marchese, Emanuela;
    • Trepiccione, Francesco;
    • Vitagliano, Caterina;
    • Iorio, Valentina Di;
    • Alessandra, Perna;
    • Simonelli, Francesca;
    • Nigro, Vincenzo;
    • Capasso, Giovambattista;
    • Viggiano, Davide
    Publication type:
    Article
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    Syndromic Retinitis Pigmentosa: A 15-Patient Study.

    Published in:
    Genes, 2024, v. 15, n. 4, p. 516, doi. 10.3390/genes15040516
    By:
    • Holanda, Ianne Pessoa;
    • Rim, Priscila Hae Hyun;
    • Guaragna, Mara Sanches;
    • Gil-da-Silva-Lopes, Vera Lúcia;
    • Steiner, Carlos Eduardo
    Publication type:
    Article
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    Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome.

    Published in:
    Genes, 2023, v. 14, n. 5, p. 1113, doi. 10.3390/genes14051113
    By:
    • Nawaz, Hamed;
    • Mujahid;
    • Khan, Sher Alam;
    • Bibi, Farhana;
    • Waqas, Ahmed;
    • Bari, Abdul;
    • Fardous;
    • Khan, Niamatullah;
    • Muhammad, Nazif;
    • Khan, Amjad;
    • Paracha, Sohail Aziz;
    • Alam, Qamre;
    • Kamal, Mohammad Azhar;
    • Rafeeq, Misbahuddin M.;
    • Muhammad, Noor;
    • Haq, Fayaz Ul;
    • Khan, Shazia;
    • Mahmood, Arif;
    • Khan, Saadullah;
    • Umair, Muhammad
    Publication type:
    Article
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    Proteomic and Transcriptomic Landscapes of Alström and Bardet–Biedl Syndromes.

    Published in:
    Genes, 2022, v. 13, n. 12, p. 2370, doi. 10.3390/genes13122370
    By:
    • Smyczynska, Urszula;
    • Stanczak, Marcin;
    • Kuljanin, Miljan;
    • Włodarczyk, Aneta;
    • Stoczynska-Fidelus, Ewelina;
    • Taha, Joanna;
    • Pawlik, Bartłomiej;
    • Borowiec, Maciej;
    • Mancias, Joseph D.;
    • Mlynarski, Wojciech;
    • Rieske, Piotr;
    • Fendler, Wojciech;
    • Zmysłowska, Agnieszka
    Publication type:
    Article
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    A Case of Hydrometrocolpos and Polydactyly.

    Published in:
    Clinical Medicine Insights: Pediatrics, 2015, n. 9, p. 7, doi. 10.4137/CMPed.S20787
    By:
    • Sharma, Deepak;
    • Murki, Srinivas;
    • Pratap, Oleti Tejo;
    • Irfan, G. M.;
    • Kolar, Geeta
    Publication type:
    Article
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    Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

    Published in:
    European Journal of Human Genetics, 2007, v. 15, n. 2, p. 173, doi. 10.1038/sj.ejhg.5201736
    By:
    • White, Dominic R. A.;
    • Ganesh, Anuradha;
    • Nishimura, Darryl;
    • Rattenberry, Eleanor;
    • Ahmed, Shakeel;
    • Smith, Ursula M.;
    • Pasha, Shanaz;
    • Raeburn, Sandy;
    • Trembath, Richard C.;
    • Rajab, Anna;
    • Macdonald, Fiona;
    • Banin, Eyal;
    • Stone, Edwin M.;
    • Johnson, Colin A.;
    • Sheffield, Val C.;
    • Maher, Eamonn R.
    Publication type:
    Article
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    Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

    Published in:
    European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1195, doi. 10.1038/sj.ejhg.5201688
    By:
    • Laurier, Virginie;
    • Stoetzel, Corinne;
    • Muller, Jean;
    • Thibault, Christelle;
    • Corbani, Sandra;
    • Jalkh, Nadine;
    • Salem, Nabiha;
    • Chouery, Eliane;
    • Poch, Olivier;
    • Licaire, Serge;
    • Danse, Jean-Marc;
    • Amati-Bonneau, Patricia;
    • Bonneau, Dominique;
    • Mégarbané, André;
    • Mandel, Jean-Louis;
    • Dollfus, Hélène
    Publication type:
    Article
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    Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372
    By:
    • Hichri, Haifa;
    • Stoetzel, Corinne;
    • Laurier, Virginie;
    • Caron, Solenne;
    • Sigaudy, Sabine;
    • Sarda, Pierre;
    • Hamel, Christian;
    • Martin-Coignard, Dominique;
    • Gilles, Morin;
    • Leheup, Bruno;
    • Holder, Mureille;
    • Kaplan, Josseline;
    • Bitoun, Pierre;
    • Lacombe, Didier;
    • Verloes, Alain;
    • Bonneau, Dominique;
    • Perrin-Schmitt, Fabienne;
    • Brandt, Christian;
    • Besancon, Anne-Françoise;
    • Mandel, Jean-Louis
    Publication type:
    Article
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    BARDET-BIEDL SYNDROME - CASE PRESENTATION.

    Published in:
    Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 3, p. 289, doi. 10.37897/rjp.2015.3.11
    By:
    • Iurian, Sorin Ioan;
    • Arts, Heleen;
    • Brunner, Han;
    • Fintina, Dana
    Publication type:
    Article
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    BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

    Published in:
    Nature Genetics, 2006, v. 38, n. 5, p. 521, doi. 10.1038/ng1771
    By:
    • Stoetzel, Corinne;
    • Laurier, Virginie;
    • Davis, Erica E.;
    • Muller, Jean;
    • Rix, Suzanne;
    • Badano, José L;
    • Leitch, Carmen C.;
    • Salem, Nabiha;
    • Chouery, Eliane;
    • Corbani, Sandra;
    • Jalk, Nadine;
    • Vicaire, Serge;
    • Sarda, Pierre;
    • Hamel, Christian;
    • Lacombe, Didier;
    • Holder, Muriel;
    • Odent, Sylvie;
    • Holder, Susan;
    • Brooks, Alice S.;
    • Elcioglu, Nursel H.
    Publication type:
    Article
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    Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

    Published in:
    Nature Genetics, 2005, v. 37, n. 10, p. 1135, doi. 10.1038/ng1644
    By:
    • Ross, Alison J.;
    • May-Simera, Helen;
    • Eichers, Erica R.;
    • Kai, Masatake;
    • Hill, Josephine;
    • Jagger, Daniel J.;
    • Leitch, Carmen C.;
    • Chapple, J. Paul;
    • Munro, Peter M.;
    • Fisher, Shannon;
    • Tan, Perciliz L.;
    • Phillips, Helen M.;
    • Leroux, Michel R.;
    • Henderson, Deborah J.;
    • Murdoch, Jennifer N.;
    • Copp, Andrew J.;
    • Eliot, Marie-Madeleine;
    • Lupski, James R.;
    • Kemp, David T.;
    • Dollfus, Hélène
    Publication type:
    Article
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    Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

    Published in:
    Nature Genetics, 2002, v. 31, n. 4, p. 435, doi. 10.1038/ng935
    By:
    • Mykytyn, Kirk;
    • Nishimura, Darryl Y.;
    • Searby, Charles C.;
    • Shastri, Mythreyi;
    • Yen, Hsan-jan;
    • Beck, John S.;
    • Braun, Terry;
    • Streb, Luan M.;
    • Cornier, Alberto S.;
    • Cox, Gerald F.;
    • Fulton, Anne B.;
    • Carmi, Rivka;
    • Lüleci, Güven;
    • Chandrasekharappa, Settara C.;
    • Collins, Francis S.;
    • Jacobson, Samuel G.;
    • Heckenlively, John R.;
    • Weleber, Richard G.;
    • Stone, Edwin M.;
    • Sheffield, Val C.
    Publication type:
    Article
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    Mutations in MKKS cause Bardet-Biedl syndrome.

    Published in:
    Nature Genetics, 2000, v. 26, n. 1, p. 15, doi. 10.1038/79116
    By:
    • Slavotinek, Anne M.;
    • Stone, Edwin M.;
    • Mykytyn, Kirk;
    • Heckenlively, John R.;
    • Green, Jane S.;
    • Heon, Elise;
    • Musarella, Maria A.;
    • Parfrey, Patrick S.;
    • Sheffield, Val C.;
    • Biesecker, Leslie G.
    Publication type:
    Article
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