Saint-Jore B - Search Results

1

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

Funke B, Saint-Jore B, Puech A, Sirotkin H, Edelmann L, Carlson C, Raft S, Pandita RK, Kucherlapati R, Skoultchi A, Morrow BE. Funke B, et al. Among authors: saint jore b. Genomics. 1997 Dec 15;46(3):364-72. doi: 10.1006/geno.1997.5046. Genomics. 1997. PMID: 9441739

2

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.

Sirotkin H, Morrow B, Saint-Jore B, Puech A, Das Gupta R, Patanjali SR, Skoultchi A, Weissman SM, Kucherlapati R. Sirotkin H, et al. Among authors: saint jore b. Genomics. 1997 Jun 1;42(2):245-51. doi: 10.1006/geno.1997.4734. Genomics. 1997. PMID: 9192844 Free article.

3

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

Puech A, Saint-Jore B, Funke B, Gilbert DJ, Sirotkin H, Copeland NG, Jenkins NA, Kucherlapati R, Morrow B, Skoultchi AI. Puech A, et al. Among authors: saint jore b. Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14608-13. doi: 10.1073/pnas.94.26.14608. Proc Natl Acad Sci U S A. 1997. PMID: 9405660 Free PMC article.

4

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

Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A, Morrow B. Funke B, et al. Among authors: saint jore b. Genomics. 1998 Oct 15;53(2):146-54. doi: 10.1006/geno.1998.5488. Genomics. 1998. PMID: 9790763

5

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

Saint-Jore B, Puech A, Heyer J, Lin Q, Raine C, Kucherlapati R, Skoultchi AI. Saint-Jore B, et al. Hum Mol Genet. 1998 Nov;7(12):1841-9. doi: 10.1093/hmg/7.12.1841. Hum Mol Genet. 1998. PMID: 9811927

6

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

Puech A, Saint-Jore B, Merscher S, Russell RG, Cherif D, Sirotkin H, Xu H, Factor S, Kucherlapati R, Skoultchi AI. Puech A, et al. Among authors: saint jore b. Proc Natl Acad Sci U S A. 2000 Aug 29;97(18):10090-5. doi: 10.1073/pnas.97.18.10090. Proc Natl Acad Sci U S A. 2000. PMID: 10963672 Free PMC article.

7

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

Long JM, LaPorte P, Merscher S, Funke B, Saint-Jore B, Puech A, Kucherlapati R, Morrow BE, Skoultchi AI, Wynshaw-Boris A. Long JM, et al. Among authors: saint jore b. Neurogenetics. 2006 Nov;7(4):247-57. doi: 10.1007/s10048-006-0054-0. Epub 2006 Aug 10. Neurogenetics. 2006. PMID: 16900388

8

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

Saint-Jore B, Loux N, Junien C, Boileau C. Saint-Jore B, et al. Hum Genet. 1993 Jun;91(5):511-2. doi: 10.1007/BF00217783. Hum Genet. 1993. PMID: 8100212

9

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

Loux N, Saint-Jore B, Collod G, Dairou F, Benlian P, Truffert J, Dastugue B, Douste-Blazy P, de Gennes JL, Junien C, et al. Loux N, et al. Hum Mutat. 1992;1(4):325-32. doi: 10.1002/humu.1380010411. Hum Mutat. 1992. PMID: 1301940

10

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

Loux N, Saint-Jore B, Collod G, Benlian P, Cambou JP, Denat M, Junien C, Boileau C. Loux N, et al. Hum Mutat. 1993;2(2):145-7. doi: 10.1002/humu.1380020216. Hum Mutat. 1993. PMID: 8318993 No abstract available.

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