B. Saint-Jore

发表

Familial ligand‐defective apolipoprotein B‐100: Simultaneous detection of the ARG3500→GLN and ARG3531→CYS mutations in a French population

C. Junien, M. Krempf, G. Jondeau, 1997, Human mutation.

Identification of a mutation, N543H, in exon 11 of the low‐density lipoprotein receptor gene in a French family with familial hypercholesterolemia

T. Foulon, A. Hadjian, M. Bost, 1995, Human mutation.

Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method

C. Junien, B. Dastugue, C. Boileau, 1992, Human mutation.

Molecular Analysis of Apo(a) Fragmentation in Polygenic Hypercholesterolemia: Characterization of a New Plasma Fragment Pattern

P. Giral, J. Thillet, J. Chapman, 2001, Arteriosclerosis, thrombosis, and vascular biology.

Identification of the haplotype associated with the APOB‐3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation

C. Junien, C. Boileau, P. Benlian, 1993, Human mutation.

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization.

R. Kucherlapati, B. Morrow, N. Copeland, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development.

R. Kucherlapati, A. Skoultchi, A. Puech, 1998, Human molecular genetics.

Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11.

B. Morrow, B. Funke, R. Pandita, 1998, Genomics.

Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome.

R. Kucherlapati, S. Weissman, B. Morrow, 1997, Genomics.

Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region.

R. Kucherlapati, A. Skoultchi, S. Factor, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects

C. Junien, M. Krempf, C. Bonaïti‐pellié, 2000, European Journal of Human Genetics.

Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11.

R. Kucherlapati, B. Morrow, L. Edelmann, 1997, Genomics.

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.

C. Junien, M. Krempf, C. Boileau, 1999, American journal of human genetics.

Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome

R. Kucherlapati, B. Morrow, A. Wynshaw-Boris, 2006, Neurogenetics.

Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene

C. Junien, C. Boileau, B. Saint-Jore, 1993, Human Genetics.