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Author/Creator Gardie, Betty

3. Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases. Issue 1 (22nd October 2013)

Authors:
Bento, Celeste; Percy, Melanie J.; Gardie, Betty; Maia, Tabita Magalhães; van, Richard; Perrotta, Silverio; Della Ragione, Fulvio; Almeida, Helena; Rossi, Cedric; Girodon, François; Åström, Maria; Neumann, Drorit; Schnittger, Susanne; Landin, Britta; Minkov, Milen; Randi, Maria Luigia; Richard, S...
Journal:
Human mutation
Issue:
Volume 35:Issue 1(2014:Jan.)
Page Start:
15
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma. Issue 11 (29th January 2020)

Authors:
Buffet, Alexandre; Calsina, Bruna; Flores, Shahida; Giraud, Sophie; Lenglet, Marion; Romanet, Pauline; Deflorenne, Elisa; Aller, Javier; Bourdeau, Isabelle; Bressac-de Paillerets, Brigitte; Calatayud, María; Dehais, Caroline; De Mones Del Pujol, Erwan; Elenkova, Atanaska; Herman, Philippe; Kameni...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 11(2020)
Page Start:
752
Record Type:
Journal Article
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5. Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review. (30th September 2022)

Authors:
van Dijk, Myrthe J.; van Oirschot, Brigitte A.; Stam‐Slob, Manon C.; Waanders, Esmé; van der Zwaag, Bert; van Beers, Eduard J.; Jans, Judith J. M.; van der Linden, Peter Willem; Torregrosa Diaz, Jose M.; Gardie, Betty; Girodon, François; Schots, Rik; Thielen, Noortje; van Wijk, Richard
Journal:
British journal of haematology
Issue:
Volume 200:Number 2(2023)
Page Start:
249
Record Type:
Journal Article
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7. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. Issue 4 (12th March 2011)

Authors:
Gardie, Betty; Remenieras, Audrey; Kattygnarath, Darouna; Bombled, Johny; Lefèvre, Sandrine; Perrier-Trudova, Victoria; Rustin, Pierre; Barrois, Michel; Slama, Abdelhamid; Avril, Marie-Françoise; Bessis, Didier; Caron, Olivier; Caux, Frédéric; Collignon, Patrick; Coupier, Isabelle; Cremin, Carol;...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 4(2011)
Page Start:
226
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗