ACNP - Italian Periodicals Catalogue

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Results: 1-15 |

Results: 15

A NOVEL GENE THAT ENCODES A PROTEIN WITH A PUTATIVE SRC HOMOLOGY-3 DOMAIN IS A CANDIDATE GENE FOR FAMILIAL JUVENILE NEPHRONOPHTHISIS

Authors: SAUNIER S CALADO J HEILIG R SILBERMANN F BENESSY F MORIN G KONRAD M BROYER M GUBLER MC WEISSENBACH J ANTIGNAC C

Citation: S. Saunier et al., A NOVEL GENE THAT ENCODES A PROTEIN WITH A PUTATIVE SRC HOMOLOGY-3 DOMAIN IS A CANDIDATE GENE FOR FAMILIAL JUVENILE NEPHRONOPHTHISIS, Human molecular genetics, 6(13), 1997, pp. 2317-2323

TOWARDS THE IDENTIFICATION OF A GENE FOR NEPHRONOPHTHISIS

Authors: SAUNIER S SILBERMANN F BENESSY F ANTIGNAC C

Citation: S. Saunier et al., TOWARDS THE IDENTIFICATION OF A GENE FOR NEPHRONOPHTHISIS, MS. Medecine sciences, 13(1), 1997, pp. 54-56

NEPHRONOPHTHISIS IN SENEGAL - THE FIRST 3 CASES

Authors: DIOUF B NIANG A KA MM KA EF DIOUF ML BA A DROZ D BENESSY F ANTIGNAC C DIOP TM BAO O

Citation: B. Diouf et al., NEPHRONOPHTHISIS IN SENEGAL - THE FIRST 3 CASES, Nephrologie, 18(7), 1997, pp. 299-302

FIRST PRENATAL-DIAGNOSIS OF FAMILIAR JUVENILE NEPHRONOPHTHISIS (NPH)

Authors: MORIN G BENESSY F SILBERMANN F BAUMANN C SAUNIER S CALADO J ANTIGNAC C

Citation: G. Morin et al., FIRST PRENATAL-DIAGNOSIS OF FAMILIAR JUVENILE NEPHRONOPHTHISIS (NPH), American journal of human genetics, 61(4), 1997, pp. 911-911

LARGE DELETIONS OF THE NPH1 REGION IN COGAN-SYNDROME (CS) ASSOCIATED WITH FAMILIAL JUVENILE NEPHRONOPHTHISIS (NPH)

Authors: SAUNIER S MORIN G CALADO J BENESSY F SILBERMANN F ANTIGNAC C

Citation: S. Saunier et al., LARGE DELETIONS OF THE NPH1 REGION IN COGAN-SYNDROME (CS) ASSOCIATED WITH FAMILIAL JUVENILE NEPHRONOPHTHISIS (NPH), American journal of human genetics, 61(4), 1997, pp. 2025-2025

MOLECULAR DIAGNOSIS - A SUBSTITUTE FOR RENAL BIOPSY IN NEPHRONOPHTHISIS

Authors: CALADO J SAUNIER S KONRAD M BENESSY F SILBERMANN F ECKART P NIAUDET P BROYER M ANTIGNAC C

Citation: J. Calado et al., MOLECULAR DIAGNOSIS - A SUBSTITUTE FOR RENAL BIOPSY IN NEPHRONOPHTHISIS, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1810-1810

LARGE HOMOZYGOUS DELETIONS OF THE 2Q13 REGION ARE A MAJOR CAUSE OF JUVENILE NEPHRONOPHTHISIS

Authors: KONRAD M SAUNIER S HEIDET L SILBERMANN F BENESSY F CALADO J LEPASLIER D BROYER M GUBLER MC ANTIGNAC C

Citation: M. Konrad et al., LARGE HOMOZYGOUS DELETIONS OF THE 2Q13 REGION ARE A MAJOR CAUSE OF JUVENILE NEPHRONOPHTHISIS, Human molecular genetics, 5(3), 1996, pp. 367-371

MINILECTURE-2 - LARGE HOMOZYGOUS DELETIONS OF THE 2Q13 REGION ARE A MAJOR CAUSE OF JUVENILE NEPHRONOPHTHISIS

Authors: SAUNIER S KONRAD D HEIDET L SILBERMANN F BENESSY F CALADO J BROYER M GUBLER MC ANTIGNAC C

Citation: S. Saunier et al., MINILECTURE-2 - LARGE HOMOZYGOUS DELETIONS OF THE 2Q13 REGION ARE A MAJOR CAUSE OF JUVENILE NEPHRONOPHTHISIS, Kidney international, 50(5), 1996, pp. 1795-1795

PHYSICAL MAP OF THE NEPHRONOPHTHISIS REGION - EXCLUSION OF PAX8 AS A POSSIBLE CANDIDATE GENE

Authors: KONRAD M SAUNIER S SILBERMANN F BENESSY F GUBLER MC ANTIGNAC C

Citation: M. Konrad et al., PHYSICAL MAP OF THE NEPHRONOPHTHISIS REGION - EXCLUSION OF PAX8 AS A POSSIBLE CANDIDATE GENE, Journal of the American Society of Nephrology, 6(3), 1995, pp. 699-699

SPLICE-MEDIATED INSERTION OF AN ALU SEQUENCE IN THE COL4A3 MESSENGER-RNA CAUSING AUTOSOMAL RECESSIVE ALPORT SYNDROME

Authors: KNEBELMANN B FORESTIER L DROUOT L QUINONES S CHUET C BENESSY F SAUS J ANTIGNAC C

Citation: B. Knebelmann et al., SPLICE-MEDIATED INSERTION OF AN ALU SEQUENCE IN THE COL4A3 MESSENGER-RNA CAUSING AUTOSOMAL RECESSIVE ALPORT SYNDROME, Human molecular genetics, 4(4), 1995, pp. 675-679

A 11 MB YAC-BASED CONTIG SPANNING THE FAMILIAL JUVENILE NEPHRONOPHTHISIS REGION (NPH1) LOCATED ON CHROMOSOME 2Q

Authors: KONRAD M SAUNIER S SILBERMANN F BENESSY F LEPASLIER D WEISSENBACH J BROYER M GUBLER MC ANTIGNAC C

Citation: M. Konrad et al., A 11 MB YAC-BASED CONTIG SPANNING THE FAMILIAL JUVENILE NEPHRONOPHTHISIS REGION (NPH1) LOCATED ON CHROMOSOME 2Q, Genomics, 30(3), 1995, pp. 514-520

A 11 MB YAC BASED CONTIG SPANNING THE FAMILIAL JUVENILE NEPHRONOPHTHISIS REGION (NPH1) LOCATED ON CHROMOSOME 2Q

Authors: KONRAD M SAUNIER S SILBERMANN F BENESSY F GUBLER MC ANTIGNAC C

Citation: M. Konrad et al., A 11 MB YAC BASED CONTIG SPANNING THE FAMILIAL JUVENILE NEPHRONOPHTHISIS REGION (NPH1) LOCATED ON CHROMOSOME 2Q, American journal of human genetics, 57(4), 1995, pp. 1519-1519

LINKAGE ANALYSIS IN FAMILIAL INTERSTITIAL NEPHRITIS

Authors: SAUNIER S BENESSY F CHEVET D SIMON P SILBERMANN F KONRAD M HABIB R ANTIGNAC C

Citation: S. Saunier et al., LINKAGE ANALYSIS IN FAMILIAL INTERSTITIAL NEPHRITIS, Journal of the American Society of Nephrology, 5(3), 1994, pp. 652-652

REFINED MAPPING OF A GENE (NPH1) CAUSING FAMILIAL JUVENILE NEPHRONOPHTHISIS AND EVIDENCE FOR GENETIC-HETEROGENEITY

Authors: MEDHIOUB M CHERIF D BENESSY F SILBERMANN F GUBLER MC LEPASLIER D COHEN D WEISSENBACH J BECKMANN J ANTIGNAC C

Citation: M. Medhioub et al., REFINED MAPPING OF A GENE (NPH1) CAUSING FAMILIAL JUVENILE NEPHRONOPHTHISIS AND EVIDENCE FOR GENETIC-HETEROGENEITY, Genomics, 22(2), 1994, pp. 296-301

FURTHER EVIDENCE FOR A LOCUS FOR FAMILIAL JUVENILE NEPHRONOPHTHISIS (NPH) ON CHROMOSOME-2P AND EVIDENCE FOR GENETIC HETEROGENITY

Authors: ANTIGNAC C MEDHIOUB M BENESSY F BECKMANN J SCHROEDER C WEISSENBACH J COHEN D HABIB R

Citation: C. Antignac et al., FURTHER EVIDENCE FOR A LOCUS FOR FAMILIAL JUVENILE NEPHRONOPHTHISIS (NPH) ON CHROMOSOME-2P AND EVIDENCE FOR GENETIC HETEROGENITY, American journal of human genetics, 53(3), 1993, pp. 968-968

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