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Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 155, doi. 10.1186/s13023-014-0190-9
By:
- Almoguera, Berta;
- Sijie He;
- Corton, Marta;
- Fernandez-San Jose, Patricia;
- Blanco-Kelly, Fiona;
- López-Molina, Maria Isabel;
- García-Sandoval, Blanca;
- del Val, Javier;
- Yiran Guo;
- Lifeng Tian;
- Xuanzhu Liu;
- Liping Guan;
- Torres, Rosa J.;
- Puig, Juan G.;
- Hakonarson, Hakon;
- Xun Xu;
- Keating, Brendan;
- Ayuso, Carmen
Publication type:
Article
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Published in:
2014
By:
- Almoguera, Berta;
- He, Sijie;
- Corton, Marta;
- Fernandez-San Jose, Patricia;
- Blanco-Kelly, Fiona;
- López-Molina, Maria Isabel;
- García-Sandoval, Blanca;
- Del Val, Javier;
- Guo, Yiran;
- Tian, Lifeng;
- Liu, Xuanzhu;
- Guan, Liping;
- Torres, Rosa J;
- Puig, Juan G;
- Hakonarson, Hakon;
- Xu, Xun;
- Keating, Brendan;
- Ayuso, Carmen
Publication type:
journal article
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Published in:
PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133624
By:
- Almoguera, Berta;
- Li, Jiankang;
- Fernandez-San Jose, Patricia;
- Liu, Yichuan;
- March, Michael;
- Pellegrino, Renata;
- Golhar, Ryan;
- Corton, Marta;
- Blanco-Kelly, Fiona;
- López-Molina, Maria Isabel;
- García-Sandoval, Blanca;
- Guo, Yiran;
- Tian, Lifeng;
- Liu, Xuanzhu;
- Guan, Liping;
- Zhang, Jianguo;
- Keating, Brendan;
- Xu, Xun;
- Hakonarson, Hakon;
- Ayuso, Carmen
Publication type:
Article
Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients.
Published in:
JAMA Ophthalmology, 2015, v. 133, n. 2, p. 157, doi. 10.1001/jamaophthalmol.2014.4498
By:
- Blanco-Kelly, Fiona;
- Jaijo, Teresa;
- Aller, Elena;
- Avila-Fernandez, Almudena;
- López-Molina, María Isabel;
- Giménez, Ascensión;
- García-Sandoval, Blanca;
- Millán, José M.;
- Ayuso, Carmen
Publication type:
Article
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy.
Published in:
JAMA Ophthalmology, 2015, v. 133, n. 2, p. 133, doi. 10.1001/jamaophthalmol.2014.4266
By:
- Riveiro-Álvarez, Rosa;
- Yajing (Angela) Xie;
- López-Martínez, Miguel-Ángel;
- Gambin, Tomasz;
- Pérez-Carro, Raquel;
- Ávila-Fernández, Almudena;
- López-Molina, María-Isabel;
- Zernant, Jana;
- Jhangiani, Shalini;
- Muzny, Donna;
- Bo Yuan;
- Boerwinkle, Eric;
- Gibbs, Richard;
- Lupski, James R.;
- Ayuso, Carmen;
- Allikmets, Rando
Publication type:
Article
Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients.
Published in:
BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/517570
By:
- Kamenarova, Kunka;
- Corton, Marta;
- García-Sandoval, Blanca;
- Jose, Patricia Fernández-San;
- Panchev, Valentin;
- Ávila-Fernández, Almudena;
- López-Molina, Maria Isabel;
- Chakarova, Christina;
- Ayuso, Carmen;
- Bhattacharya, Shomi S.
Publication type:
Article

Found: 6

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients.

New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy.

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients.