Maria do Rosário Neto dos Santos
AuthID: R-00H-H5E
101
TITLE: The ABCA4 2588G > Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean Michael Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D’urso; Roser Gonzalez Duarte; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean Michael Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D’urso; Roser Gonzalez Duarte; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID102
TITLE: The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
103
TITLE: TATA box polymorphism in the UDP-glucuronosyltransferase-1 gene promoter and neonatal hyperbilirubinemia
AUTHORS: Alexandrino, AM; Carvalho, C; Costa, E ; Vieira, E; Oliveira, P ; Duarte, C; Barbot, J; dos Santos, R; Areias, A;
PUBLISHED: 2001, SOURCE: PRENATAL AND NEONATAL MEDICINE, VOLUME: 6, ISSUE: 2
AUTHORS: Alexandrino, AM; Carvalho, C; Costa, E ; Vieira, E; Oliveira, P ; Duarte, C; Barbot, J; dos Santos, R; Areias, A;
PUBLISHED: 2001, SOURCE: PRENATAL AND NEONATAL MEDICINE, VOLUME: 6, ISSUE: 2
INDEXED IN: Scopus 
WOS
Scopus WOS IN MY: ORCID
ORCID104
TITLE: Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy
AUTHORS: Dos Santos, MR; Vieira, EM; Lima, MR;
PUBLISHED: 2001, SOURCE: GENETIC COUNSELING, VOLUME: 12, ISSUE: 3
AUTHORS: Dos Santos, MR; Vieira, EM; Lima, MR;
PUBLISHED: 2001, SOURCE: GENETIC COUNSELING, VOLUME: 12, ISSUE: 3
INDEXED IN: Scopus WOS
Scopus WOS IN MY: ORCID
ORCID105
TITLE: Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia
AUTHORS: Costa, E ; Cabeda, JM ; Vieira, E; Pinto, R; Pereira, SA; Ferraz, L; Santos, R; Barbot, J;
PUBLISHED: 2000, SOURCE: BLOOD, VOLUME: 95, ISSUE: 4
AUTHORS: Costa, E ; Cabeda, JM ; Vieira, E; Pinto, R; Pereira, SA; Ferraz, L; Santos, R; Barbot, J;
PUBLISHED: 2000, SOURCE: BLOOD, VOLUME: 95, ISSUE: 4
INDEXED IN: Scopus WOS
Scopus WOS IN MY: ORCID
ORCID106
TITLE: Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia
AUTHORS: Elı́sio Costa; José Manuel Cabeda; Emilia Vieira; Rui Pinto; Susana Aires Pereira; Leonor Ferraz; Rosário Santos; José Barbot;
PUBLISHED: 2000, SOURCE: Blood, VOLUME: 95, ISSUE: 4
AUTHORS: Elı́sio Costa; José Manuel Cabeda; Emilia Vieira; Rui Pinto; Susana Aires Pereira; Leonor Ferraz; Rosário Santos; José Barbot;
PUBLISHED: 2000, SOURCE: Blood, VOLUME: 95, ISSUE: 4
107
TITLE: Analysis of FMR1 and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: evidence for a "protector" haplotype Full Text
AUTHORS: Peixoto, A; dos Santos, MR; Seruca, R ; Amorim, Antonio ; Castedo, S ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6, ISSUE: 5
AUTHORS: Peixoto, A; dos Santos, MR; Seruca, R ; Amorim, Antonio ; Castedo, S ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6, ISSUE: 5
108
TITLE: Congenital valvular pulmonary stenosis [Estenose valvular pulmonar congenita familiar]
AUTHORS: Roenca, EP; Mota, CR; Santos, R; Alvares, S;
PUBLISHED: 1998, SOURCE: Nascer e Crescer, VOLUME: 7, ISSUE: 4
AUTHORS: Roenca, EP; Mota, CR; Santos, R; Alvares, S;
PUBLISHED: 1998, SOURCE: Nascer e Crescer, VOLUME: 7, ISSUE: 4
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID109
TITLE: Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online. Full Text
AUTHORS: dos Santos, MR; Jorge, P ; Ribeiro, EM; Pires, MM ; Guimaraes, A;
PUBLISHED: 1998, SOURCE: Human mutation, VOLUME: 12, ISSUE: 3
AUTHORS: dos Santos, MR; Jorge, P ; Ribeiro, EM; Pires, MM ; Guimaraes, A;
PUBLISHED: 1998, SOURCE: Human mutation, VOLUME: 12, ISSUE: 3
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID110
TITLE: TYPE-1 GAUCHER DISEASE - MOLECULAR, BIOCHEMICAL, AND CLINICAL CHARACTERIZATION OF PATIENTS FROM NORTHERN PORTUGAL
AUTHORS: AMARAL, O; LACERDA, L; SANTOS, R; PINTO, RA; AERTS, H; MIRANDA, MCS ;
PUBLISHED: 1993, SOURCE: BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY, VOLUME: 49, ISSUE: 1
AUTHORS: AMARAL, O; LACERDA, L; SANTOS, R; PINTO, RA; AERTS, H; MIRANDA, MCS ;
PUBLISHED: 1993, SOURCE: BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY, VOLUME: 49, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS IN MY: ORCID
ORCID