Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Shzeena Dad"'
Autor:
Christine Petit, Eberhart Zrenner, Shzeena Dad, Martina Jarc-Vidmar, Maria Antonia Claveria, Alberto Auricchio, Ana Fakin, Marko Hawlina, Gaelle M. Lefèvre, Susanne Kohl, Anne Kurtenbach, Aziz El-Amraoui, Loreto Martorell Sampol, Jesus Rodriguez Jorge, Ditta Zobor, Saddek Mohand-Said, Crystel Bonnet, Ieva Sliesoraityte, Charles Marcaillou, Francesco Testa, Saba Battelino, Jaume Mora, Mélanie Letexier, José-Alain Sahel, Francesca Simonelli, Lisbeth Birk Møller, Sandra Chantot-Bastaraud, Jean-Pierre Hardelin, Isabelle Audo, Zied Riahi, Andrej Zupan, Luce Smagghe, Amrit Singh-Estivalet, Damjan Glavač, Souad Gherbi, Sandro Banfi, Sandrine Marlin
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European Journal of Human Genetics, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
International audience; Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes (USH1-3) are distinguishable based on the severity of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4afcf7a92c79aeed388ac2681d75dd57
https://hal-pasteur.archives-ouvertes.fr/pasteur-03215026/document
https://hal-pasteur.archives-ouvertes.fr/pasteur-03215026/document
Autor:
Shzeena Dad, Karen Grønskov, Vigdis Brox, Lisbeth Tranebjærg, Anne-Françoise Roux, Nanna Dahl Rendtorff, Hanne Jensen, Lisbeth Birk Møller, Øivind Nilssen, Helena Gásdal Karstensen, Thomas Rosenberg
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2016, 4 (5), pp.527-539. ⟨10.1002/mgg3.228⟩
Shzeena, D, Rendtorff, N D, Tranebjærg, L, Grønskov, K, Karstensen, H G, Brox, V, Nilssen, Ø, Roux, A-F, Rosenberg, T, Jensen, H & Møller, L B 2016, ' Usher syndrome in Denmark : mutation spectrum and some clinical observations ', Molecular Genetics & Genomic Medicine, vol. 4, no. 5, pp. 527-539 . https://doi.org/10.1002/mgg3.228
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2016, 4 (5), pp.527-539. ⟨10.1002/mgg3.228⟩
Shzeena, D, Rendtorff, N D, Tranebjærg, L, Grønskov, K, Karstensen, H G, Brox, V, Nilssen, Ø, Roux, A-F, Rosenberg, T, Jensen, H & Møller, L B 2016, ' Usher syndrome in Denmark : mutation spectrum and some clinical observations ', Molecular Genetics & Genomic Medicine, vol. 4, no. 5, pp. 527-539 . https://doi.org/10.1002/mgg3.228
Source: doi:10.1002/mgg3.228 Background: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. Methods: Mutations in 21 out of 26 investigated Danish unrelated indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5d52b77001432cbc4e7b51301d729b4
https://hal.umontpellier.fr/hal-02438014/document
https://hal.umontpellier.fr/hal-02438014/document
Autor:
Thomas Rosenberg, Lisbeth Tranebjærg, Niels Tommerup, Shzeena Dad, Lisbeth Birk Møller, Mads Bak, Erik Kann, Anders Albrechtsen, Mana M. Mehrjouy, Hanne Jensen, Nanna Dahl Rendtorff
Publikováno v:
European journal of human genetics : EJHG. 23(12)
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in some cases vestibular dysfunction. Usher syndrome is divided into three subtypes, USH1, USH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5c942279da812434bb71faa15926598
https://pubmed.ncbi.nlm.nih.gov/26559128
https://pubmed.ncbi.nlm.nih.gov/26559128
Autor:
Cornelia Brendel, Peter Huppke, Reinhard Ullmann, Lisbeth Birk Møller, Merle Hillebrand, Gudrun Nürnberg, Peter Nürnberg, Stephen G. Kaler, Orly Elpeleg, Peter Freisinger, Iris Marquardt, Callum Wilson, Shzeena Dad, Vera M. Kalscheuer, John Christodoulou, Georg Christoph Korenke, Jutta Gärtner, Gaele Pitelet, Ursula Gruber-Sedlmayr, Stefan A. Haas
Publikováno v:
The American Journal of Human Genetics
Europe PubMed Central
Europe PubMed Central
Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from four unrelated families with these biochemical findings who presented with a lethal autosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae596556c7d227d5ec290b1b4b0654c1
Autor:
Nanna Dahl Rendtorff, Niels Tommerup, Shzeena Dad, Hanne Irene Jensen, Lisbeth Birk Møller, Erik Kann, Lisbeth Tranebjærg, Mads Bak, Thomas Rosenberg, Anders Albrechtsen, Mana M. Mehrjouy
Publikováno v:
European Journal of Human Genetics. 23:1750-1750
Correction to: European Journal of Human Genetics advance online publication, 25 March 2015; doi:10.1038/ejhg.2015.54 Post online publication it was realised that one of the author’s names (Shzeena Dad) had been submitted incorrectly. This has now
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2dbcfccebef3064daca7ef701c372205
https://doi.org/10.1038/ejhg.2015.131
https://doi.org/10.1038/ejhg.2015.131