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Results: 1-13 |
Results: 13
GOOSECOID-LIKE (GSCL), A CANDIDATE GENE FOR VELOCARDIOFACIAL SYNDROME, IS NOT ESSENTIAL FOR NORMAL MOUSE DEVELOPMENT
Authors: SAINTJORE B PUECH A HEYER J LIN QC RAINE C KUCHERLAPATI R SKOULTCHI AI
Citation: B. Saintjore et al., GOOSECOID-LIKE (GSCL), A CANDIDATE GENE FOR VELOCARDIOFACIAL SYNDROME, IS NOT ESSENTIAL FOR NORMAL MOUSE DEVELOPMENT, Human molecular genetics (Print), 7(12), 1998, pp. 1841-1849
ISOLATION AND CHARACTERIZATION OF A HUMAN GENE CONTAINING A NUCLEAR-LOCALIZATION SIGNAL FROM THE CRITICAL REGION FOR VELO-CARDIO-FACIAL SYNDROME ON 22Q11
Authors: FUNKE B PUECH A SAINTJORE B PANDITA R SKOULTCHI A MORROW B
Citation: B. Funke et al., ISOLATION AND CHARACTERIZATION OF A HUMAN GENE CONTAINING A NUCLEAR-LOCALIZATION SIGNAL FROM THE CRITICAL REGION FOR VELO-CARDIO-FACIAL SYNDROME ON 22Q11, Genomics (San Diego, Calif.), 53(2), 1998, pp. 146-154
FAMILIAL LIGAND-DEFECTIVE APOLIPOPROTEIN B-100 - SIMULTANEOUS DETECTION OF THE ARG(3500)-]GLN AND ARG(3531)-]CYS MUTATIONS IN A FRENCH POPULATION
Authors: RABES JP VARRET M SAINTJORE B ERLICH D JONDEAU G KREMPF M GIRAUDET P JUNIEN C BOILEAU C
Citation: Jp. Rabes et al., FAMILIAL LIGAND-DEFECTIVE APOLIPOPROTEIN B-100 - SIMULTANEOUS DETECTION OF THE ARG(3500)-]GLN AND ARG(3531)-]CYS MUTATIONS IN A FRENCH POPULATION, Human mutation, 10(2), 1997, pp. 160-163
CHARACTERIZATION AND MUTATION ANALYSIS OF GOOSECOID-LIKE (GSCL), A HOMEODOMAIN-CONTAINING GENE THAT MAPS TO THE CRITICAL REGION FOR VCFS DGS ON 22Q11/
Authors: FUNKE B SAINTJORE B PUECH A SIROTKIN H EDELMANN L CARLSON C RAFT S PANDITA RK KUCHERLAPATI R SKOULTCHI A MORROW BE
Citation: B. Funke et al., CHARACTERIZATION AND MUTATION ANALYSIS OF GOOSECOID-LIKE (GSCL), A HOMEODOMAIN-CONTAINING GENE THAT MAPS TO THE CRITICAL REGION FOR VCFS DGS ON 22Q11/, Genomics, 46(3), 1997, pp. 364-372
IDENTIFICATION, CHARACTERIZATION, AND PRECISE MAPPING OF A HUMAN GENEENCODING A NOVEL MEMBRANE-SPANNING PROTEIN FROM THE 22Q11 REGION DELETED IN VELO-CARDIO-FACIAL SYNDROME
Authors: SIROTKIN H MORROW B SAINTJORE B PUECH A DASGUPTA R PATANJALI SR SKOULTCHI A WEISSMAN SM KUCHERLAPATI R
Citation: H. Sirotkin et al., IDENTIFICATION, CHARACTERIZATION, AND PRECISE MAPPING OF A HUMAN GENEENCODING A NOVEL MEMBRANE-SPANNING PROTEIN FROM THE 22Q11 REGION DELETED IN VELO-CARDIO-FACIAL SYNDROME, Genomics, 42(2), 1997, pp. 245-251
COMPARATIVE MAPPING OF THE HUMAN 22Q11 CHROMOSOMAL REGION AND THE ORTHOLOGOUS REGION IN MICE REVEALS COMPLEX CHANGES IN GENE ORGANIZATION
Authors: PUECH A SAINTJORE B FUNKE B GILBERT DJ SIROTKIN H COPELAND NG JENKINS NA KUCHERLAPATI R MORROW B SKOULTCHI AI
Citation: A. Puech et al., COMPARATIVE MAPPING OF THE HUMAN 22Q11 CHROMOSOMAL REGION AND THE ORTHOLOGOUS REGION IN MICE REVEALS COMPLEX CHANGES IN GENE ORGANIZATION, Proceedings of the National Academy of Sciences of the United Statesof America, 94(26), 1997, pp. 14608-14613
COMPARATIVE MAPPING OF THE HUMAN AND MOUSE VCFS DGS SYNTENIC REGION DISCLOSES THE PRESENCE OF A LARGE INTERNAL REARRANGEMENT/
Authors: SKOULTCHI AI PUECH A SAINTJORE B FUNKE B COPELAND N JENKINS N PANDITA R CARLSON C SIROTKIN H KUCHERLAPATI R MORROW BE
Citation: Ai. Skoultchi et al., COMPARATIVE MAPPING OF THE HUMAN AND MOUSE VCFS DGS SYNTENIC REGION DISCLOSES THE PRESENCE OF A LARGE INTERNAL REARRANGEMENT/, American journal of human genetics, 61(4), 1997, pp. 296-296
EMBRYONIC EXPRESSION OF SEVERAL GENES COMMONLY DELETED IN VCF DGS SYNDROME/
Authors: SAINTJORE B PUECH A FUNKE B SIROTKIN H MORROW BE KUCHERLAPATI R SKOULTCHI AI
Citation: B. Saintjore et al., EMBRYONIC EXPRESSION OF SEVERAL GENES COMMONLY DELETED IN VCF DGS SYNDROME/, American journal of human genetics, 61(4), 1997, pp. 925-925
A NEW GOOSECOID GENE FAMILY MEMBER IS IN THE VCFS DGS CRITICAL REGION/
Authors: FUNKE B SAINTJORE B PUECH A SIROTKIN H RAFT S CARLSON C PANDITA RK KUCHERLAPATI R SKOULTCHI A MORROW BE
Citation: B. Funke et al., A NEW GOOSECOID GENE FAMILY MEMBER IS IN THE VCFS DGS CRITICAL REGION/, American journal of human genetics, 61(4), 1997, pp. 981-981
FUNCTIONAL-ANALYSIS OF 2 GENES IN THE VELO-CARDIO-FACIAL SYNDROME COMMONLY DELETED REGION
Authors: PUECH A SIROTKIN H SAINTJORE B KUCHERLAPATI R SKOULTCHI AI
Citation: A. Puech et al., FUNCTIONAL-ANALYSIS OF 2 GENES IN THE VELO-CARDIO-FACIAL SYNDROME COMMONLY DELETED REGION, American journal of human genetics, 61(4), 1997, pp. 2216-2216
IDENTIFICATION OF A MUTATION, N543H, IN EXON-11 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN A FRENCH FAMILY WITH FAMILIAL HYPERCHOLESTEROLEMIA
Authors: TRICOTGUERBER F SAINTJORE B VALENTI K FOULON T BOST M HADJIAN AJ
Citation: F. Tricotguerber et al., IDENTIFICATION OF A MUTATION, N543H, IN EXON-11 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN A FRENCH FAMILY WITH FAMILIAL HYPERCHOLESTEROLEMIA, Human mutation, 6(1), 1995, pp. 87-88
TOWARDS THE IDENTIFICATION OF A 3RD GENE INVOLVED IN FAMILIAL TYPE IIA HYPERCHOLESTEROLEMIA BY EXCLUSION MAPPING IN 2 FAMILIES
Authors: VARRET M RABES JP SAINTJORE B MARINONI JC KREMPF M EHRLICH D BONAITI C JUNIEN C BOILEAU C
Citation: M. Varret et al., TOWARDS THE IDENTIFICATION OF A 3RD GENE INVOLVED IN FAMILIAL TYPE IIA HYPERCHOLESTEROLEMIA BY EXCLUSION MAPPING IN 2 FAMILIES, American journal of human genetics, 57(4), 1995, pp. 1901-1901
IDENTIFICATION OF THE HAPLOTYPE ASSOCIATED WITH THE APO-B-3500 MUTATION IN A FRENCH HYPERCHOLESTEROLEMIC SUBJECT - FURTHER SUPPORT FOR A UNIQUE EUROPEAN ANCESTRAL MUTATION
Authors: LOUX N SAINTJORE B COLLOD G BENLIAN P CAMBOU JP DENAT M JUNIEN C BOILEAU C
Citation: N. Loux et al., IDENTIFICATION OF THE HAPLOTYPE ASSOCIATED WITH THE APO-B-3500 MUTATION IN A FRENCH HYPERCHOLESTEROLEMIC SUBJECT - FURTHER SUPPORT FOR A UNIQUE EUROPEAN ANCESTRAL MUTATION, Human mutation, 2(2), 1993, pp. 145-147
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