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Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63779
By:
- Wade, Emma M.;
- Morgan, Tim;
- Gimenez, Gregory;
- Jenkins, Zandra A.;
- Titheradge, Hannah;
- O'Donnell, Marie;
- Skidmore, David;
- Suri, Mohnish;
- Robertson, Stephen P.
Publication type:
Article
Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3675, doi. 10.1002/ajmg.a.62424
By:
- Wade, Emma M.;
- Jenkins, Zandra A.;
- Morgan, Tim;
- Gimenez, Gregory;
- Gibson, Hayley;
- Peng, Hui;
- Sanchez Russo, Rossana;
- Skraban, Cara M.;
- Bedoukian, Emma;
- Robertson, Stephen P.
Publication type:
Article
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1739, doi. 10.1002/ajmg.a.38267
By:
- Wade, Emma M.;
- Jenkins, Zandra A.;
- Daniel, Philip B.;
- Morgan, Tim;
- Addor, Marie C.;
- Adés, Lesley C.;
- Bertola, Debora;
- Bohring, Axel;
- Carter, Erin;
- Cho, Tae‐Joon;
- de Geus, Christa M.;
- Duba, Hans‐Christoph;
- Fletcher, Elaine;
- Hadzsiev, Kinga;
- Hennekam, Raoul C. M.;
- Kim, Chong A.;
- Krakow, Deborah;
- Morava, Eva;
- Neuhann, Teresa;
- Sillence, David
Publication type:
Article
Frontometaphyseal dysplasia and keloid formation without FLNA mutations.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1215, doi. 10.1002/ajmg.a.37044
By:
- Basart, Hanneke;
- van de Kar, Annekatrien;
- Adès, Lesley;
- Cho, Tae‐Joon;
- Carter, Erin;
- Maas, Saskia M.;
- Wilson, Louise C.;
- van der Horst, Chantal M. A. M.;
- Wade, Emma M.;
- Robertson, Stephen P.;
- Hennekam, Raoul C.
Publication type:
Article
The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis.
Published in:
Human Mutation, 2020, v. 41, n. 5, p. 865, doi. 10.1002/humu.24002
By:
- Wade, Emma M.;
- Halliday, Benjamin J.;
- Jenkins, Zandra A.;
- O'Neill, Adam C.;
- Robertson, Stephen P.
Publication type:
Article
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1886, doi. 10.1002/humu.23834
By:
- Morlino, Silvia;
- Carbone, Annalucia;
- Ritelli, Marco;
- Fusco, Carmela;
- Giambra, Vincenzo;
- Nardella, Grazia;
- Notarangelo, Angelantonio;
- Panelli, Patrizio;
- Mazzoccoli, Gianluigi;
- Zoppi, Nicoletta;
- Grammatico, Paola;
- Wade, Emma M;
- Colombi, Marina;
- Castori, Marco;
- Micale, Lucia
Publication type:
Article
Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.
Published in:
Journal of Molecular Medicine, 2020, v. 98, n. 11, p. 1639, doi. 10.1007/s00109-020-01974-z
By:
- Daniel, Steffi;
- Renwick, Marian;
- Chau, Viet Q.;
- Datta, Shyamtanu;
- Maddineni, Prabhavathi;
- Zode, Gulab;
- Wade, Emma M.;
- Robertson, Stephen P.;
- Petroll, W. Matthew;
- Hulleman, John D.
Publication type:
Article
Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.
Published in:
Genes, 2021, v. 12, n. 4, p. 528, doi. 10.3390/genes12040528
By:
- Fukushima, Kaya;
- Parthasarathy, Padmini;
- Wade, Emma M.;
- Morgan, Tim;
- Gowrishankar, Kalpana;
- Markie, David M.;
- Robertson, Stephen P.
Publication type:
Article
Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis.
Published in:
Genes, 2020, v. 11, n. 12, p. 1439, doi. 10.3390/genes11121439
By:
- Mi, Jingyi;
- Parthasarathy, Padmini;
- Halliday, Benjamin J.;
- Morgan, Tim;
- Dean, John;
- Nowaczyk, Malgorzata J. M.;
- Markie, David;
- Robertson, Stephen P.;
- Wade, Emma M.
Publication type:
Article

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