Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ursula M Smith"'
Autor:
Jose L. Badano, Sarah Blair-Reid, Ursula M Smith, Nicholas Katsanis, Andrew J. Copp, Tania Attié-Bitach, Phillip Cox, Colin A. Johnson, Simon C. Afford, Dianne Gerrelli, Deirdre Kelly, Nisha Sriram, Andrew R. Cullinane, Keith Gull, Helen R. Dawe
Publikováno v:
Human Molecular Genetics. 16:173-186
Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia, central nervous system malformations (typically, posterior occipital encephalocele), and hepatic developmental defects. Two M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::491a51b918a58ec8e32b2f5a2521387e
https://doi.org/10.1093/hmg/ddl459
https://doi.org/10.1093/hmg/ddl459
Autor:
Erin N. Goranson, Shanaz Pasha, Martine Bucourt, Lihadh Al-Gazali, Phillip Cox, Neil V. Morgan, Mark B. Consugar, Caroline A. Miller, Stacie Lilliquist, Saghira Malik Sharif, Christopher P. Bennett, Irene A. Aligianis, Brandy M McKee, Colin A. Johnson, Eamonn R. Maher, Louise J. Tee, Christopher J. Ward, Carole McKeown, Richard C. Trembath, Tania Attié-Bitach, Deirdre Kelly, Vincent H. Gattone, Ursula M Smith, Peter C. Harris, Rachaneekorn Punyashthiti, Shelly Whelan, Philip A Batman, Esther N. Maina, Vicente E. Torres, C. Geoffrey Woods, Paul Gissen
Publikováno v:
Nature Genetics. 38:191-196
Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system (most commonly occipital encephalocele), hepatic ductal dysplasia and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b79a5734ac29ef052fb4f35fae33aa08
https://doi.org/10.1038/ng1713
https://doi.org/10.1038/ng1713
Autor:
Richard C. Trembath, Louise Tee, Rashida Abbasi, Syed Qasim Mehdi, Ursula M Smith, Anthony T. Moore, Colin A. Johnson, Shanaz Pasha, Catherine Willis, Eamonn R. Maher, Shagufta Khaliq, Tim Forshew
Publikováno v:
Human Genetics. 117:452-459
Isolated (non-syndromic) congenital cataract may be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive trait. Considerable progress has been made in identifying genes and loci for dominantly inherited cataract, but the mol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aebb2ebd65b35c2f0f62f740a7f339a3
https://doi.org/10.1007/s00439-005-1309-9
https://doi.org/10.1007/s00439-005-1309-9
Autor:
Edwin M. Stone, Anuradha Ganesh, Shakeel Ahmed, Anna Rajab, Sandy Raeburn, Eleanor Rattenberry, Eyal Banin, Eamonn R. Maher, Shanaz Pasha, Darryl Y. Nishimura, Richard C. Trembath, Val C. Sheffield, Dominic R A White, Ursula M Smith, Colin A. Johnson, Fiona Macdonald
Publikováno v:
European journal of human genetics : EJHG. 15(2)
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and renal failure. In order to identify novel BBS loci we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d3f53246fd9b1c1fcd8d0dd154678be
https://pubmed.ncbi.nlm.nih.gov/17106446
https://pubmed.ncbi.nlm.nih.gov/17106446
Autor:
Férechté Encha-Razavi, Nathalie Boddaert, Laurence Faivre, Rémi Salomon, Catherine Ozilou, Colin A. Johnson, Marie-Claire Gubler, Stanislas Lyonnet, Ursula M Smith, Sophie Saunier, Lekbir Baala, Pascale de Lonlay, Bernard Foliguet, Corinne Antignac, Tania Attié-Bitach, Rana Khaddour, S. Romano, Sophie Audollent, Nicole Laurent, Michel Vekemans, Arnold Munnich
Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The association of retinal dystrophy and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd2885b02e5c32889f44bc8dc017abb
https://europepmc.org/articles/PMC1785313/
https://europepmc.org/articles/PMC1785313/
Autor:
Arnold Munnich, Phillip Cox, Camille d'Humières, Marie-Claire Gubler, Stavit A. Shalev, Ursula M Smith, Martine Le Merrer, Chantal Esculpavit, Philip A Batman, Jelena Martinovic, Colin A. Johnson, Joelle Roume, Christine Oien, Fiona Macdonald, Rana Khaddour, Rizwana Shaffiq, Tania Attié-Bitach, Férechté Encha-Razavi, Michel Vekemans, Catherine Ozilou, Géraldine Viot, Andrew R. Cullinane, Sophie Audollent, Emmanuelle Génin, Lekbir Baala, C. Geoffrey Woods, Claire Boone, Stanislas Lyonnet, Davina Clavering, Noman Kadhom, Mira Kyttälä, Christopher P. Bennett
Publikováno v:
Human Mutation. 28:523-524
Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations (typically occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77b3c9cedeb44152b9f8832956abdd64
https://doi.org/10.1002/humu.9489
https://doi.org/10.1002/humu.9489
Publikováno v:
Europe PubMed Central
Primary cilia have a broad tissue distribution and are present on most cell types in the human body. Until recently, they were considered to be redundant organelles, but progress over the past 5 years has led to an understanding of their role in norm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::188fbec1a6b059e2bc85c71447c495ff
http://europepmc.org/abstract/med/18178628
http://europepmc.org/abstract/med/18178628