91
TITLE: Frequency of 5 ' untranslated region single nucleotide polymorphisms of the alpha-Galactosidase A gene in the Portuguese population
AUTHORS: Ferreira, S; Barcelo, J; Carvalho, F ; Oliveira, JP ;
PUBLISHED: 2007, SOURCE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29
INDEXED IN: WOS
92
TITLE: Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy.
AUTHORS: Ferreira, S; Malheiro, F; Oliveira, JP ;
PUBLISHED: 2007, SOURCE: Human genetics, VOLUME: 121, ISSUE: 5
INDEXED IN: Scopus
94
TITLE: Progressive development of microalbuminuria and proteinuria in males and females with Fabry disease  Full Text
AUTHORS: Ortiz, A; Oliveira, JP ; Cianciaruso, B; Waldeka, S; D.G Warnock; Wanner, C; Registry Fabry;
PUBLISHED: 2007, SOURCE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29
95
TITLE: Relationship between chronic renal disease, blood pressure, and left ventricular hypertrophy in males and females with Fabry disease  Full Text
AUTHORS: Ortiz, A; Oliveira, JP ; Cianciaruso, B; Waldek, S; D.G Warnock; Wanner, C; Registry Fabry;
PUBLISHED: 2007, SOURCE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29
96
TITLE: Staging of Fabry disease using renal biopsies  Full Text
AUTHORS: Oliveira, JP ;
PUBLISHED: 2007, SOURCE: 7th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 29, ISSUE: SUPPL. A
INDEXED IN: Scopus WOS CrossRef: 6
97
TITLE: The Fabry registry demonstrates heterogeneity of renal progression in 833 males and females with Fabry disease
AUTHORS: Ortiz, A; Oliveira, JP ; Cianciaruso, B; Waldek, S; Wanner, C;
PUBLISHED: 2006, SOURCE: 43rd ERA-EDTA Congress in NEPHROLOGY DIALYSIS TRANSPLANTATION, VOLUME: 21
INDEXED IN: WOS
98
TITLE: Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)  Full Text
AUTHORS: Carsten Bergmann; Jan Senderek; Ellen Windelen; Fabian Küpper; Iris Middeldorf; Frank Schneider; Christian Dornia; Sabine Rudnik Schöneborn; Martin Konrad; Claus P Schmitt; Tomas Seeman; Thomas J Neuhaus; Udo Vester; Jutta Kirfel; Reinhard Büttner; Klaus Zerres; Abel E.; Ala-Mello S.; Ausserer B.; Bald M.; Beetz R.; Besbas N.; Brandis M.; Coulthard M.; Dippel J.; Druck D Garcia; Fischbach M.; Foged N.; Frishberg Y.; Gellermann J.; Gordjani N.; Häffner K.; Hennekam R.C.; Hoppe B.; Hoyer P.; John U.; Kääriäinen H.; Kemper M.J.; Koivisto P.; Krüger G.; Kuwertz-Bröcking E.; Lambert D.; Lennert T.; Li Volti S.; Mache C.; Matthijs G.; Mehls O.; Meiner V.; Misselwitz J.; Mononen T.; Müller-Wiefel D.E.; Mustonen A.; Özen S.; Oliveira, JP ; Pirson Y.; Querfeld U.; Rascher W.; Rudin C.; Santos H.G.; Schröder M.; Seyberth H.W.; Shalev S.; Shohat M.; Strehlau J.; Vierimaa O.; Völpel S.; Wilson M.; Zimmerhackl B.; ...More
PUBLISHED: 2005, SOURCE: Kidney International, VOLUME: 67, ISSUE: 3
INDEXED IN: Scopus CrossRef: 262
99
TITLE: Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease  Full Text
AUTHORS: Kosch, M; Koch, HG; Oliveira, JP ; Soares, C; Bianco, F; Breuning, F; Rasmussen, A; Schaefer, RM;
PUBLISHED: 2004, SOURCE: KIDNEY INTERNATIONAL, VOLUME: 66, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 27
100
TITLE: Formal recognition of the speciality of Medical Genetics in Portugal  Full Text
AUTHORS: Harris, R; Oliveira, JP ; Santos, HG;
PUBLISHED: 2000, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 1
Page 10 of 11. Total results: 109.