Physiopathologie des maladies neuromusculaires
Chef d'équipe : Jocelyn LAPORTE
Département : Médecine translationnelle et neurogénétique
Valérie BIANCALANA
Chercheuse
valerie.biancalana@igbmc.fr
Équipe(s)
Sous-groupe(s)
Bases génétiques des myopathies
Responsable : Valérie BIANCALANA
Publications
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2004
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Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes
- Elisabeth Flori
- Valérie Biancalana
- Françoise Girard-Lemaire
- Romain Favre
- Jean Flori
- Berenice Doray
- Jean-Louis Mandel
European Journal of Human Genetics ; Volume: 12 ; Page: 181-186
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118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)
- E. Bertini
- Valérie Biancalana
- A. Bolino
- A. Buj Bello
- M. Clague
- P. Guicheney
- H. Jungbluth
- W. Kress
- A. Musaro
- H. Nandurkar
- L. Pirola
- N. Romero
- J. Senderek
- U. Suter
- C. Sewry
- H. Tronchere
- C. Wallgren-Pettersson
- M.J. Wishart
- Jocelyn Laporte
Neuromuscular Disorders ; Volume: 14 ; Page: 387-396
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2003
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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
- Valérie Biancalana
- Olivier Caron
- Sabina Gallati
- Frank Baas
- Wolfram Kress
- Giuseppe Novelli
- Maria d'Apice
- Clotilde Lagier-Tourenne
- Anna Buj-Bello
- Norma Romero
- Jean-Louis Mandel
Human Genetics ; Volume: 112 ; Page: 135-142
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Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
- Sarah L. Nolin
- W. Ted Brown
- Anne Glicksman
- George E. Houck
- Alice D. Gargano
- Amy Sullivan
- Valérie Biancalana
- Karen Bröndum-Nielsen
- Helle Hjalgrim
- Elke Holinski-Feder
- Frank Kooy
- John Longshore
- James Macpherson
- Jean-Louis Mandel
- Gert Matthijs
- François Rousseau
- Peter Steinbach
- Marja-Leena Väisänen
- Harriet von Koskull
- Stephanie L. Sherman
American Journal of Human Genetics ; Volume: 72 ; Page: 454-464
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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
- Valérie Biancalana
- Olivier Caron
- Sabina Gallati
- Frank Baas
- Wolfram Kress
- Giuseppe Novelli
- Maria Rosaria d'Apice
- Clotilde Lagier-Tourenne
- Anna Buj-Bello
- Norma B. Romero
- Jean-Louis Mandel
Human Genetics ; Volume: 112 ; Page: 135-142
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2002
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Genotype–phenotype correlations in X-linked myotubular myopathy
- Meriel Mcentagart
- Gretchen Parsons
- Anna Buj-Bello
- Valérie Biancalana
- Iain Fenton
- Mark Little
- Michael Krawczak
- Nick Thomas
- Gail Herman
- Angus Clarke
- Carina Wallgren-Pettersson
Neuromuscular Disorders ; Volume: 12 ; Page: 939-946
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Genotype–phenotype correlations in X-linked myotubular myopathy
- Meriel Mcentagart
- Gretchen Parsons
- Anna Buj-Bello
- Valérie Biancalana
- Iain Fenton
- Mark Little
- Michael Krawczak
- Nick Thomas
- Gail Herman
- Angus Clarke
- Carina Wallgren-Pettersson
Neuromuscular Disorders ; Volume: 12 ; Page: 939-946
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2001
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Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia
- Marie C. Vincent
- Valérie Biancalana
- Danièle Ginisty
- Jean-Louis Mandel
- Patrick Calvas
European Journal of Human Genetics ; Volume: 9 ; Page: 355-363
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Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation.
- F Giraudeau
- L Taine
- V Biancalana
- B Delobel
- H Journel
- C Missirian
- D Lacombe
- D Bonneau
- P Parent
- D Aubert
- Y Hauck
- M F Croquette
- A Toutain
- M G Mattei
- H A Loiseau
- A David
- Gilles Vergnaud
Journal of Medical Genetics ; Volume: 38 ; Page: 121-5
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2000
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MTM1 mutations in X-linked myotubular myopathy
- Jocelyn Laporte
- Valérie Biancalana
- Stephan Tanner
- Wolfram Kress
- Vreni Schneider
- Carina Wallgren-Pettersson
- Franziska Herger
- Anna Buj-Bello
- François Blondeau
- Sabina Liechti-Gallati
- Jean-Louis Mandel
Human Mutation ; Volume: 15 ; Page: 393-409
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