Joaquim Fernando Tomaz Rodrigues Moita Calado


AuthID: R-000-7HS

Confirmed Publications: 15



11
TITLE: Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria  Full Text
AUTHORS: Calado, J ; Soto, K; Clemente, C; Correia, P; Rueff, J ;
PUBLISHED: 2004, SOURCE: HUMAN GENETICS, VOLUME: 114, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
12
TITLE: Characterization of the NPHP1 locus: Mutational mechanism involved in deletions in familial juvenile nephronophthisis
AUTHORS: Saunier, S; Calado, J ; Benessy, F; Silbermann, F; Heilig, R; Weissenbach, J; Antignac, C;
PUBLISHED: 2000, SOURCE: American Journal of Human Genetics, VOLUME: 66, ISSUE: 3
INDEXED IN: Scopus CrossRef
IN MY: ORCID
13
TITLE: Familial juvenile nephronopahisis  Full Text
AUTHORS: Konrad, M; Saunier, S; Calado, J ; Gubler, MC; Broyer, M; Antignac, C;
PUBLISHED: 1998, SOURCE: Journal of Molecular Medicine, VOLUME: 76, ISSUE: 5
INDEXED IN: Scopus CrossRef
IN MY: ORCID
14
TITLE: A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis
AUTHORS: Saunier, S; Calado, J ; Heilig, R; Silbermann, F; Benessy, F; Morin, G; Konrad, M; Broyer, M; Gubler, MC; Weissenbach, J; Antignac, C;
PUBLISHED: 1997, SOURCE: Human Molecular Genetics, VOLUME: 6, ISSUE: 13
INDEXED IN: Scopus
IN MY: ORCID
15
TITLE: Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
AUTHORS: Konrad, M; Saunier, S; Heidet, L; Silbermann, F; Benessy, F; Calado, J ; Le Paslier, D; Broyer, M; Gubler, MC; Antignac, C;
PUBLISHED: 1996, SOURCE: Human Molecular Genetics, VOLUME: 5, ISSUE: 3
INDEXED IN: Scopus CrossRef
IN MY: ORCID
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