skip to main content
Idioma:
Resultados 1 2 3 next page
Mostrar Somente
Refinado por: assunto: Bardet-Biedl Syndrome remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results
Material Type:
Artigo 		Adicionar ao Meu Espaço

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results

Forsythe, Elizabeth ; Haws, Robert M ; Argente, Jesús ; Beales, Philip ; Martos-Moreno, Gabriel Á ; Dollfus, Hélène ; Chirila, Costel ; Gnanasakthy, Ari ; Buckley, Brieana C ; Mallya, Usha G ; Clément, Karine ; Haqq, Andrea M

Orphanet journal of rare diseases, 2023-01, Vol.18 (1), p.12-12, Article 12 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
2
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
Material Type:
Artigo 		Adicionar ao Meu Espaço

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Phillips, Helen M ; Dollfus, Hélène ; Leroux, Michel R ; Chapple, J Paul ; Jagger, Daniel J ; Ross, Alison J ; Katsanis, Nicholas ; Forge, Andrew ; Hill, Josephine ; Kemp, David T ; Eliot, Marie-Madeleine ; Lupski, James R ; Leitch, Carmen C ; Murdoch, Jennifer N ; Beales, Philip L ; Fisher, Shannon ; Tan, Perciliz L ; Henderson, Deborah J ; Tada, Masazumi ; Eichers, Erica R ; May-Simera, Helen ; Munro, Peter M ; Copp, Andrew J ; Kai, Masatake

Nature genetics, 2005-10, Vol.37 (10), p.1135-1140 [Periódico revisado por pares]

London: Nature Publishing Group

Texto completo disponível

Citações Citado por
3
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort

Sathya Priya, C. ; Sen, P. ; Umashankar, V. ; Gupta, N. ; Kabra, M. ; Kumaramanickavel, G. ; Stoetzel, C. ; Dollfus, H. ; Sripriya, S.

Clinical genetics, 2015-02, Vol.87 (2), p.161-166 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
4
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations

Schaefer, E. ; Lauer, J. ; Durand, M. ; Pelletier, V. ; Obringer, C. ; Claussmann, A. ; Braun, J.-J. ; Redin, C. ; Mathis, C. ; Muller, J. ; Schmidt-Mutter, C. ; Flori, E. ; Marion, V. ; Stoetzel, C. ; Dollfus, H.

Clinical genetics, 2014-05, Vol.85 (5), p.476-481 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
5
In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies
In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies
Material Type:
Artigo 		Adicionar ao Meu Espaço

In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies

Brun, Agnès ; Yu, Xiangxiang ; Obringer, Cathy ; Ajoy, Daniel ; Haser, Elodie ; Stoetzel, Corinne ; Roux, Michel J. ; Messaddeq, Nadia ; Dollfus, Hélène ; Marion, Vincent

Experimental eye research, 2019-09, Vol.186, p.107721, Article 107721 [Periódico revisado por pares]

England: Elsevier Ltd

Texto completo disponível

Citações Citado por
6
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome

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, Jean

Clinical genetics, 2021-02, Vol.99 (2), p.318-324 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
7
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

M'hamdi, O. ; Redin, C. ; Stoetzel, C. ; Ouertani, I. ; Chaabouni, M. ; Maazoul, F. ; M'rad, R. ; Mandel, J.L. ; Dollfus, H. ; Muller, J. ; Chaabouni, H.

Clinical genetics, 2014-02, Vol.85 (2), p.172-177 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
8
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Material Type:
Artigo 		Adicionar ao Meu Espaço

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Alan Lewis, Richard ; Rossillion, Béatrice ; Holder, Susan ; Elcioglu, Nursel H ; Davis, Erica E ; Vicaire, Serge ; Muller, Jean ; Hamel, Christian ; Leheup, Bruno ; Beales, Philip L ; Odent, Sylvie ; Lacombe, Didier ; Amati-Bonneau, Patrizia ; Stoetzel, Corinne ; Mandel, Jean-Louis ; Holder, Muriel ; Laurier, Virginie ; Sarda, Pierre ; Corbani, Sandra ; Leitch, Carmen C ; Salem, Nabiha ; Badano, José L ; Sigaudy, Sabine ; Bonneau, Dominique ; Verloes, Alain ; Jalk, Nadine ; Silva, Eduardo D ; Rix, Suzanne ; Chouery, Eliane ; Katsanis, Nicholas ; Brooks, Alice S ; de Ravel, Thomy J L ; Poch, Olivier ; Dollfus, Hélène ; Mégarbané, André

Nature genetics, 2006-05, Vol.38 (5), p.521-524 [Periódico revisado por pares]

London: Nature Publishing Group

Texto completo disponível

Citações Citado por
9
Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes
Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

Mary, Laura ; Chennen, Kirsley ; Stoetzel, Corinne ; Antin, Manuela ; Leuvrey, Anne ; Nourisson, Elsa ; Alanio‐Detton, Elisabeth ; Antal, Maria C. ; Attié‐Bitach, Tania ; Bouvagnet, Patrice ; Bouvier, Raymonde ; Buenerd, Annie ; Clémenson, Alix ; Devisme, Louise ; Gasser, Bernard ; Gilbert‐Dussardier, Brigitte ; Guimiot, Fabien ; Khau Van Kien, Philippe ; Leroy, Brigitte ; Loget, Philippe ; Martinovic, Jelena ; Pelluard, Fanny ; Perez, Marie‐Josée ; Petit, Florence ; Pinson, Lucile ; Rooryck‐Thambo, Caroline ; Poch, Olivier ; Dollfus, Hélène ; Schaefer, Elise ; Muller, Jean

Clinical genetics, 2019-03, Vol.95 (3), p.384-397 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
10
Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet-Biedl Syndrome
Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet-Biedl Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet-Biedl Syndrome

Dormegny, Léa ; Velizarova, Reana ; Schroder, Carmen M ; Kilic-Huck, Ulker ; Comtet, Henri ; Dollfus, Hélène ; Bourgin, Patrice ; Ruppert, Elisabeth

Nature and science of sleep, 2021-01, Vol.13, p.1913-1919 [Periódico revisado por pares]

New Zealand: Dove Medical Press Limited

Texto completo disponível

Citações Citado por
Resultados 1 2 3 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Revistas revisadas por pares (20)

Data de Publicação 

De até
Refinar
  1. Antes de2006  (6)
  2. 2006Até2007  (4)
  3. 2008Até2011  (2)
  4. 2012Até2015  (4)
  5. Após 2015  (7)
  6. Mais opções open sub menu

Idioma 

  1. Inglês  (19)
  2. Francês  (4)
  3. Japonês  (4)
  4. Mais opções open sub menu

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.