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Results: 1-20 |
Results: 20
PRENATAL-DIAGNOSIS BY FISH OF A 22Q11 DELETION IN 2 FAMILIES
Authors: PORTNOI MF JOYE N GONZALES M DEMCZUK S FERMONT L GAILLARD G BERCAU G MORLIER G TAILLEMITE JL
Citation: Mf. Portnoi et al., PRENATAL-DIAGNOSIS BY FISH OF A 22Q11 DELETION IN 2 FAMILIES, Journal of Medical Genetics, 35(2), 1998, pp. 165-168
TELOMERIC FISH ANALYSIS - THE USE OF TELOMERIC PROBES FOR THE CHARACTERIZATION OF VISIBLE CHROMOSOME REARRANGEMENTS USING FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: BIELANSKA M WANG JC LAGOUSAKOS N BIELANSKA MM DEMCZUK S EYDOUX P
Citation: M. Bielanska et al., TELOMERIC FISH ANALYSIS - THE USE OF TELOMERIC PROBES FOR THE CHARACTERIZATION OF VISIBLE CHROMOSOME REARRANGEMENTS USING FLUORESCENCE IN-SITU HYBRIDIZATION, American journal of human genetics, 61(4), 1997, pp. 672-672
ESTABLISHMENT OF A TRANSCRIPTION MAP IN THE 22Q11.2 MICRODELETION SYNDROME CRITICAL REGION
Authors: DEMCZUK S AURIAS A EYDOUX P
Citation: S. Demczuk et al., ESTABLISHMENT OF A TRANSCRIPTION MAP IN THE 22Q11.2 MICRODELETION SYNDROME CRITICAL REGION, American journal of human genetics, 61(4), 1997, pp. 1355-1355
CHARACTERIZATION OF CLONAL CHROMOSOME REARRANGEMENTS USING FISH IN A CELL-LINE DERIVED FROM OVARIAN EPITHELIAL CANCER (EOC)
Authors: WANG JC LAGOUSAKOS N BIELANSKA MM MESMASSON AM TONIN P PROVENCHER D DEMCZUK S EYDOUX P
Citation: Jc. Wang et al., CHARACTERIZATION OF CLONAL CHROMOSOME REARRANGEMENTS USING FISH IN A CELL-LINE DERIVED FROM OVARIAN EPITHELIAL CANCER (EOC), American journal of human genetics, 61(4), 1997, pp. 2139-2139
STRUCTURAL ORGANIZATION OF THE WD REPEAT PROTEIN-ENCODING GENE HIRA IN THE DIGEORGE-SYNDROME CRITICAL REGION OF HUMAN-CHROMOSOME-22
Authors: LORAIN S DEMCZUK S LAMOUR V TOTH S AURIAS A ROE BA LIPINSKI M
Citation: S. Lorain et al., STRUCTURAL ORGANIZATION OF THE WD REPEAT PROTEIN-ENCODING GENE HIRA IN THE DIGEORGE-SYNDROME CRITICAL REGION OF HUMAN-CHROMOSOME-22, PCR methods and applications, 6(1), 1996, pp. 43-50
ISOLATION OF A NOVEL GENE FROM THE DIGEORGE-SYNDROME CRITICAL REGION WITH HOMOLOGY TO DROSOPHILA GDL AND TO HUMAN LAMC1 GENES
Authors: DEMCZUK S THOMAS G AURIAS A
Citation: S. Demczuk et al., ISOLATION OF A NOVEL GENE FROM THE DIGEORGE-SYNDROME CRITICAL REGION WITH HOMOLOGY TO DROSOPHILA GDL AND TO HUMAN LAMC1 GENES, Human molecular genetics, 5(5), 1996, pp. 633-638
FAMILIAL NON-SYNDROMIC CONOTRUNCAL DEFECTS ARE NOT ASSOCIATED WITH A 22Q11 MICRODELETION
Authors: DEBRUS S BERGER G DEMEEUS A SAUER U GUILLAUMONT S VOISIN M BOZIO A DEMCZUK S AURIAS A BOUVAGNET P
Citation: S. Debrus et al., FAMILIAL NON-SYNDROMIC CONOTRUNCAL DEFECTS ARE NOT ASSOCIATED WITH A 22Q11 MICRODELETION, Human genetics, 97(2), 1996, pp. 138-144
CLONING OF A BALANCED TRANSLOCATION BREAKPOINT IN THE DIGEORGE-SYNDROME CRITICAL REGION AND ISOLATION OF A NOVEL POTENTIAL ADHESION RECEPTOR GENE IN ITS VICINITY
Authors: DEMCZUK S ALEDO R ZUCMAN J DELATTRE O DESMAZE C DAUPHINOT L JALBERT P ROULEAU GA THOMAS G AURIAS A
Citation: S. Demczuk et al., CLONING OF A BALANCED TRANSLOCATION BREAKPOINT IN THE DIGEORGE-SYNDROME CRITICAL REGION AND ISOLATION OF A NOVEL POTENTIAL ADHESION RECEPTOR GENE IN ITS VICINITY, Human molecular genetics, 4(4), 1995, pp. 551-558
INTERSTITIAL 22Q11 MICRODELETION EXCLUDING THE ADU BREAKPOINT IN A PATIENT WITH DIGEORGE-SYNDROME
Authors: LEVY A DEMCZUK S AURIAS A DEPETRIS D MATTEI MG PHILIP N
Citation: A. Levy et al., INTERSTITIAL 22Q11 MICRODELETION EXCLUDING THE ADU BREAKPOINT IN A PATIENT WITH DIGEORGE-SYNDROME, Human molecular genetics, 4(12), 1995, pp. 2417-2419
PHYSICAL MAPPING OF 30 CA REPEATS ON HUMAN-CHROMOSOME-22
Authors: DEMCZUK S DELATTRE O VIGNAL A WEISSENBACH J THOMAS G AURIAS A
Citation: S. Demczuk et al., PHYSICAL MAPPING OF 30 CA REPEATS ON HUMAN-CHROMOSOME-22, Genomics, 27(2), 1995, pp. 345-347
EXCESS OF DELETIONS OF MATERNAL ORIGIN IN THE DIGEORGE VELO-CARDIO-FACIAL SYNDROMES - A STUDY OF 22 NEW PATIENTS AND REVIEW OF THE LITERATURE/
Authors: DEMCZUK S LEVY A AUBRY M CROQUETTE MF PHILIP N PRIEUR M SAUER U BOUVAGNET P ROULEAU GA THOMAS G AURIAS A
Citation: S. Demczuk et al., EXCESS OF DELETIONS OF MATERNAL ORIGIN IN THE DIGEORGE VELO-CARDIO-FACIAL SYNDROMES - A STUDY OF 22 NEW PATIENTS AND REVIEW OF THE LITERATURE/, Human genetics, 96(1), 1995, pp. 9-13
DIGEORGE-SYNDROME AND RELATED SYNDROMES ASSOCIATED WITH 22Q11.2 DELETIONS - A REVIEW
Authors: DEMCZUK S AURIAS A
Citation: S. Demczuk et A. Aurias, DIGEORGE-SYNDROME AND RELATED SYNDROMES ASSOCIATED WITH 22Q11.2 DELETIONS - A REVIEW, Annales de genetique, 38(2), 1995, pp. 59-76
CLONING OF A BALANCED TRANSLOCATION BREAKPOINT MAPPING IN THE DIGEORGE-SYNDROME CRITICAL REGION
Authors: DEMCZUK S ZUCMAN J DESMAZE C SANSON M DELATTRE O ROULEAU GA THOMAS G AURIAS A
Citation: S. Demczuk et al., CLONING OF A BALANCED TRANSLOCATION BREAKPOINT MAPPING IN THE DIGEORGE-SYNDROME CRITICAL REGION, Cytogenetics and cell genetics, 67(4), 1994, pp. 291-291
SEARCH FOR 22Q11 DELETION AND LINKAGE STU DIES IN FAMILIAL CASES OF NON-SYNDROMAL FAMILIAL CONOTRUNCAL MALFORMATIONS
Authors: DEBRUS S ALONSO S DEMEEUS A DEMAILLE J BOUVAGNET P GUILLAUMONT S SAUER U BERGER G GENZ T BUHLMEIER K AURIAS A DEMCZUK S BOZIO A
Citation: S. Debrus et al., SEARCH FOR 22Q11 DELETION AND LINKAGE STU DIES IN FAMILIAL CASES OF NON-SYNDROMAL FAMILIAL CONOTRUNCAL MALFORMATIONS, Archives des maladies du coeur et des vaisseaux, 87(5), 1994, pp. 657-661
MOLECULAR CYTOGENETIC ANALYSIS OF A SERIES OF 23 DIGEORGE-SYNDROME PATIENTS BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: DEMCZUK S DESMAZE C AIKEM M PRIEUR M LEDEIST F SANSON M ROULEAU G THOMAS G AURIAS A
Citation: S. Demczuk et al., MOLECULAR CYTOGENETIC ANALYSIS OF A SERIES OF 23 DIGEORGE-SYNDROME PATIENTS BY FLUORESCENCE IN-SITU HYBRIDIZATION, Annales de genetique, 37(2), 1994, pp. 60-65
ISOLATION OF A ZINC-FINGER GENE CONSISTENTLY DELETED IN DIGEORGE-SYNDROME
Authors: AUBRY M DEMCZUK S DESMAZE C AIKEM M AURIAS A JULIEN JP ROULEAU GA
Citation: M. Aubry et al., ISOLATION OF A ZINC-FINGER GENE CONSISTENTLY DELETED IN DIGEORGE-SYNDROME, Human molecular genetics, 2(10), 1993, pp. 1583-1587
ISOLATION AND MAPPING OF 45 NOTI LINKING CLONES TO CHROMOSOME-22
Authors: SANSON M ZHANG FR DEMCZUK S DELATTRE O DEJONG P AURIAS A THOMAS G ROULEAU GA
Citation: M. Sanson et al., ISOLATION AND MAPPING OF 45 NOTI LINKING CLONES TO CHROMOSOME-22, Genomics, 17(3), 1993, pp. 776-779
MAPPING OF THE HUMAN ADENYLOSUCCINATE LYASE (ADSL) GENE TO CHROMOSOME22Q13.1-]Q13.2
Authors: FON EA DEMCZUK S DELATTRE O THOMAS G ROULEAU GA
Citation: Ea. Fon et al., MAPPING OF THE HUMAN ADENYLOSUCCINATE LYASE (ADSL) GENE TO CHROMOSOME22Q13.1-]Q13.2, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 201-203
ALTERATION IN A NEW GENE ENCODING A PUTATIVE MEMBRANE-ORGANIZING PROTEIN CAUSES NEUROFIBROMATOSIS TYPE-2
Authors: ROULEAU GA MEREL P LUTCHMAN M SANSON M ZUCMAN J MARINEAU C HOANGXUAN K DEMCZUK S DESMAZE C PLOUGASTEL B PULST SM LENOIR G BIJLSMA E FASHOLD R DUMANSKI J DEJONG P PARRY D ELDRIGE R AURIAS A DELATTRE O THOMAS G
Citation: Ga. Rouleau et al., ALTERATION IN A NEW GENE ENCODING A PUTATIVE MEMBRANE-ORGANIZING PROTEIN CAUSES NEUROFIBROMATOSIS TYPE-2, Nature, 363(6429), 1993, pp. 515-521
PHYSICAL MAPPING BY FISH OF THE DIGEORGE CRITICAL REGION (DGCR) - INVOLVEMENT OF THE REGION IN FAMILIAL CASES
Authors: DESMAZE C PRIEUR M AMBLARD F AIKEM M LEDEIST F DEMCZUK S ZUCMAN J PLOUGASTEL B DELATTRE O CROQUETTE MF BREVIERE GM HUON C LEMERRER M MATHIEU M SIDI D STEPHAN JL AURIAS A
Citation: C. Desmaze et al., PHYSICAL MAPPING BY FISH OF THE DIGEORGE CRITICAL REGION (DGCR) - INVOLVEMENT OF THE REGION IN FAMILIAL CASES, American journal of human genetics, 53(6), 1993, pp. 1239-1249
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