F. Bergametti

发表

A genomic approach of the hepatitis C virus generates a protein interaction map.

P. Legrain, L. Daviet, M. Flajolet, 2000, Gene.

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

E. Génin, D. Hervé, I. Callebaut, 2017, European Journal of Human Genetics.

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

F. Brunelle, S. Lyonnet, D. Hervé, 2017, Journal of Medical Genetics.

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.

S. Roman, H. Chabriat, C. Sainte-Rose, 2014, American journal of human genetics.

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.

S. Gazal, G. Steinberg, A. Gore, 2011, American journal of human genetics.

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas

F. Chapon, M. Orth, H. Fournier, 2013, Molecular Syndromology.

Genetics of cavernous angiomas

E. Tournier-Lasserve, P. Labauge, C. Denier, 2007, The Lancet Neurology.

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Edward R. Smith, D. Nickerson, M. Bamshad, 2019, Genetics in Medicine.

The proapoptotic effect of hepatitis B virus HBx protein correlates with its transactivation activity in stably transfected cell lines

A. Sarasin, B. Luber, P. Tiollais, 1999, Oncogene.

UVDDB p127-binding modulates activities and intracellular distribution of Hepatitis B virus X protein

C. Transy, D. Sitterlin, F. Bergametti, 2000, Oncogene.

Genotype–phenotype correlations in cerebral cavernous malformations patients

E. Vicaut, L. Brunereau, J. Maciazek, 2006, Annals of neurology.

Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations

A. Nouet, F. Viallet, D. Hervé, 2020, Journal of Medical Genetics.

Tissue-specific pattern of variant transcripts of the human gonadotropin-releasing hormone receptor gene.

R. Counis, F. Bergametti, M. Kottler, 1999, European journal of endocrinology.

Expression of gonadotropin-releasing hormone (GnRH) receptor gene is altered by GnRH agonist desensitization in a manner similar to that of gonadotropin beta-subunit genes in normal and castrated rat pituitary.

R. Counis, F. Bergametti, M. Kottler, 1995, Endocrinology.

Correct binding of viral X protein to UVDDB-p127 cellular protein is critical for efficient infection by hepatitis B viruses

B. Tennant, P. Tiollais, C. Transy, 2000, Oncogene.

Interaction of Hepatitis B Virus X Protein with Damaged DNA-Binding Protein p127: Structural Analysis and Identification of Antagonists

Julie Bianchi, C. Transy, F. Bergametti, 2002, Journal of Biomedical Science.

Turnover of Hepatitis B Virus X Protein Is Regulated by Damaged DNA-Binding Complex

C. Transy, D. Sitterlin, F. Bergametti, 2002, Journal of Virology.

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.

M. Clanet, B. Echenne, B. Irthum, 2005, American journal of human genetics.

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

M. Dichgans, M. Amador, H. Chabriat, 2015, Brain : a journal of neurology.

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM

E. Tournier-Lasserve, X. Ayrignac, F. Riant, 2010, The FEBS journal.

End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy

G. Marenne, C. Aloui, H. Chabriat, 2021, Annals of neurology.

Disruption of a miR‐29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy

H. Chabriat, H. Hosseini, F. Chapon, 2016, Annals of neurology.

Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.

M. Didic, E. Jouvent, D. Hervé, 2021, Brain : a journal of neurology.

Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.

O. Lambotte, M. Tardieu, E. Tournier-Lasserve, 2015, Revue neurologique (Paris).

Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.

O. Lambotte, M. Tardieu, E. Tournier-Lasserve, 2015, Revue neurologique.

Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

C. Aloui, J. Balligand, B. Villoutreix, 2023, Human Genomics.

MULTIPLE DURAL LESIONS MIMICKING MENINGIOMAS IN PATIENTS WITH CCM3/PDCD10 MUTATIONS

M. Clanet, J. Neau, B. Fontaine, 2009, Neurology.

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy

C. Aloui, D. Vidaud, L. Grangeon, 2019, Stroke.

Interaction of hepatitis B virus X protein with damaged DNA-binding protein p127: structural analysis and identification of antagonists.

Julie Bianchi, C. Transy, F. Bergametti, 2002, Journal of Biomedical Sciences.

Can whole-exome sequencing data be used for linkage analysis?

Marie-Claude Babron, Steven Gazal, Elisabeth Tournier-Lasserve, 2015, European Journal of Human Genetics.

Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia

J. Soulier, S. Demeret, A. Philippi, 2023, Journal of neurology, neurosurgery, and psychiatry.

Cerebral Cavernous Malformations Arise Independent of the Heart of Glass Receptor

Wei Pan, E. Tournier-Lasserve, M. Kahn, 2014, Stroke.

[Recent data on the gonadoliberin receptor and the neuropeptide control mechanisms for gene expression of gonadotropin hormones].

G. Garrel, R. Counis, F. Bergametti, 1993, Contraception, fertilite, sexualite.

MULTIPLE DURAL LESIONS MIMICKING MENINGIOMAS IN PATIENTS WITH CCM3/PDCD10 MUTATIONS

M. Versino, G. Corazza, J. Neau, 2009, Neurology.