Works matching DE "POLYDACTYLY"

Results: 419
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    Birth and death of a phantom.

    Published in:
    Annals of Clinical & Translational Neurology, 2018, v. 5, n. 1, p. 98, doi. 10.1002/acn3.495
    By:
    • Dieguez, Sebastian;
    • Kaeser, Mélanie;
    • Roux, Camille;
    • Cottet, Jérôme;
    • Annoni, Jean‐Marie;
    • Schmidlin, Eric
    Publication type:
    Article
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    Polydactyly.

    Published in:
    Bulletin of the Hospital for Joint Diseases, 2013, v. 71, n. 1, p. 17
    By:
    • Guo, Bev;
    • Lee, Steven K.;
    • Paksima, Nader
    Publication type:
    Article
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    Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.

    Published in:
    European Journal of Pediatrics, 2013, v. 172, n. 7, p. 877, doi. 10.1007/s00431-011-1552-0
    By:
    • Calinescu-Tuleasca, Ana-Maria;
    • Bottani, Armand;
    • Rougemont, Anne-Laure;
    • Birraux, Jacques;
    • Gubler, Marie-Claire;
    • Coultre, Claude;
    • Majno, Pietro;
    • Mentha, Gilles;
    • Girardin, Eric;
    • Belli, Dominique;
    • Wildhaber, Barbara
    Publication type:
    Article
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    A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

    Published in:
    2003
    By:
    • Seidel, Jörg;
    • Heller, Anita;
    • Senger, Gabriele;
    • Starke, Heike;
    • Chudoba, Ilse;
    • Kelbova, Christina;
    • Tönnies, Holger;
    • Neitzel, Heidemarie;
    • Haase, Claudia;
    • Beensen, Volkmar;
    • Zintl, Felix;
    • Claussen, Uwe;
    • Liehr, Thomas;
    • Seidel, Jörg;
    • Tönnies, Holger
    Publication type:
    journal 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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    Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 6, p. 733, doi. 10.1038/ejhg.2009.225
    By:
    • Farooq, Muhammad;
    • Troelsen, Jesper T.;
    • Boyd, Mette;
    • Eiberg, Hans;
    • Hansen, Lars;
    • Hussain, Muhammad Sajid;
    • Rehman, Shoaib ur;
    • Azhar, Aysha;
    • Ali, Amjad;
    • Bakhtiar, Syeda Marriam;
    • Tommerup, Niels;
    • Baig, Shahid Mahmood;
    • Kjaer, Klaus W.
    Publication type:
    Article
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    Mouse DCUN1D1 (SCCRO) is required for spermatogenetic individualization.

    Published in:
    PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0209995
    By:
    • Huang, Guochang;
    • Kaufman, Andrew J.;
    • Ryan, Russell J. H.;
    • Romin, Yevgeniy;
    • Huryn, Laryssa;
    • Bains, Sarina;
    • Manova-Todorova, Katia;
    • Morris, Patricia L.;
    • Hunnicutt, Gary R.;
    • Adelman, Carrie A.;
    • Petrini, John H. J.;
    • Ramanathan, Y.;
    • Singh, Bhuvanesh
    Publication type:
    Article
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    The Gouty Joseph in Giulio Romano's 'Holy Family'.

    Published in:
    International Journal of Rheumatic Diseases, 2011, v. 14, n. 3, p. e30, doi. 10.1111/j.1756-185X.2011.01622.x
    By:
    • WEISZ, George M.;
    • ALBURY, William R.;
    • LIPPI, Donatella;
    • MATUCCI-CERINIC, Marco
    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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    Sixth Sense.

    Published in:
    Radiologic Technology, 2014, v. 85, n. 4, p. 472
    Publication type:
    Article
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    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 934, doi. 10.1038/ng.2331
    By:
    • Rivière, Jean-Baptiste;
    • Mirzaa, Ghayda M;
    • O'Roak, Brian J;
    • Beddaoui, Margaret;
    • Alcantara, Diana;
    • Conway, Robert L;
    • St-Onge, Judith;
    • Schwartzentruber, Jeremy A;
    • Gripp, Karen W;
    • Nikkel, Sarah M;
    • Worthylake, Thea;
    • Sullivan, Christopher T;
    • Ward, Thomas R;
    • Butler, Hailly E;
    • Kramer, Nancy A;
    • Albrecht, Beate;
    • Armour, Christine M;
    • Armstrong, Linlea;
    • Caluseriu, Oana;
    • Cytrynbaum, Cheryl
    Publication type:
    Article
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    KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

    Published in:
    Nature Genetics, 2011, v. 43, n. 6, p. 601, doi. 10.1038/ng.826
    By:
    • Putoux, Audrey;
    • Thomas, Sophie;
    • Coene, Karlien L. M.;
    • Davis, Erica E.;
    • Alanay, Yasemin;
    • Ogur, Gönül;
    • Uz, Elif;
    • Buzas, Daniela;
    • Gomes, Céline;
    • Patrier, Sophie;
    • Bennett, Christopher L.;
    • Elkhartoufi, Nadia;
    • Frison, Marie-Hélène Saint;
    • Rigonnot, Luc;
    • Joyé, Nicole;
    • Pruvost, Solenn;
    • Utine, Gulen Eda;
    • Boduroglu, Koray;
    • Nitschke, Patrick;
    • Fertitta, Laura
    Publication type:
    Article
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    Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

    Published in:
    Nature Genetics, 2010, v. 42, n. 7, p. 619, doi. 10.1038/ng.594
    By:
    • Valente, Enza Maria;
    • Logan, Clare V;
    • Mougou-Zerelli, Soumaya;
    • Lee, Jeong Ho;
    • Silhavy, Jennifer L;
    • Brancati, Francesco;
    • Iannicelli, Miriam;
    • Travaglini, Lorena;
    • Romani, Sveva;
    • Illi, Barbara;
    • Adams, Matthew;
    • Szymanska, Katarzyna;
    • Mazzotta, Annalisa;
    • Ji Eun Lee;
    • Tolentino, Jerlyn C;
    • Swistun, Dominika;
    • Salpietro, Carmelo D;
    • Fede, Carmelo;
    • Gabriel, Stacey;
    • Russ, Carsten
    Publication type:
    Article
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    Bardet Biedl syndrome- A rare case.

    Published in:
    Indian Journal of Dermatology, Venereology & Leprology, 2024, v. 90, n. 5, p. 1, doi. 10.25259/IJDVL_668_2023
    By:
    • Shende, Aditi;
    • Rambhia, Kinjal;
    • Kapadia, Farida
    Publication type:
    Article
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