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Results: 1-25 |
Results: 25
HIGH-LEVEL TRISOMY-8 MOSAICISM IN PERIPHERAL-BLOOD LYMPHOCYTES FROM AROTHMUND-THOMSON-SYNDROME PATIENT
Authors: CASTORINA P MIOZZO M MODIANO P FURHMANCONTI AM CROQUETTE MF LARIZZA L
Citation: P. Castorina et al., HIGH-LEVEL TRISOMY-8 MOSAICISM IN PERIPHERAL-BLOOD LYMPHOCYTES FROM AROTHMUND-THOMSON-SYNDROME PATIENT, European journal of human genetics, 6, 1998, pp. 2062-2062
ANALYSIS OF A DEVELOPMENTAL GENE DELETED IN PATIENTS WITH WOLF-HIRSCHHORN-SYNDROME
Authors: STEC I DENDUNNEN JT WRIGHT TJ DEBOER PAJ VANHAERINGEN A MOORMAN AFM ALTHERR MR DONNAI D CROQUETTE MF TOUTAIN A VANOMMEN GJB
Citation: I. Stec et al., ANALYSIS OF A DEVELOPMENTAL GENE DELETED IN PATIENTS WITH WOLF-HIRSCHHORN-SYNDROME, European journal of human genetics, 6, 1998, pp. 6040-6040
UNUSUAL MECHANISM IN PRADER-WILLI-SYNDROME - CONSEQUENCES FOR GENETIC-COUNSELING
Authors: KLOSOWSKI S DELOBEL B MORISOT C KONGOLO G BIANCALANA V THELLIEZ P DJEBARA A CROQUETTE MF DEROUBAIX P
Citation: S. Klosowski et al., UNUSUAL MECHANISM IN PRADER-WILLI-SYNDROME - CONSEQUENCES FOR GENETIC-COUNSELING, Archives de pediatrie, 5(8), 1998, pp. 934-935
Y-AUTOSOME TRANSLOCATION AND INFERTILITY - USEFULNESS OF MOLECULAR, CYTOGENETIC AND MEIOTIC STUDIES
Authors: DELOBEL B DJLELATI R GABRIELROBEZ O CROQUETTE MF ROUSSEAUXPREVOST R ROUSSEAUX J RIGOT JM RUMPLER Y
Citation: B. Delobel et al., Y-AUTOSOME TRANSLOCATION AND INFERTILITY - USEFULNESS OF MOLECULAR, CYTOGENETIC AND MEIOTIC STUDIES, Human genetics, 102(1), 1998, pp. 98-102
GENOTYPE-PHENOTYPE RELATIONSHIP IN FEMALE CARRIERS OF THE PREMUTATIONAND FULL MUTATION OF FMR-1
Authors: FRANKE P LEBOYER M GANSICKE M WEIFFENBACH O BIANCALANA V CORNILLETLEFEBRE P CROQUETTE MF FROSTER U SCHWAB SG POUSTKA F HAUTZINGER M MAIER W
Citation: P. Franke et al., GENOTYPE-PHENOTYPE RELATIONSHIP IN FEMALE CARRIERS OF THE PREMUTATIONAND FULL MUTATION OF FMR-1, Psychiatry research, 80(2), 1998, pp. 113-127
GENOTYPE-PHENOTYPE RELATIONSHIP IN FEMALE PRE-MUTATION AND FULL MUTATION FRA-X CARRIERS
Authors: FRANKE P LEBOYER M WEIFFENBACH O BIANCALANA V CORNILLETLEFEBRE P CROQUETTE MF FROSTER U SCHWAB SG POUSTKA F MAIER W
Citation: P. Franke et al., GENOTYPE-PHENOTYPE RELATIONSHIP IN FEMALE PRE-MUTATION AND FULL MUTATION FRA-X CARRIERS, American journal of medical genetics, 81(6), 1998, pp. 552-552
IDENTIFICATION AND MOLECULAR CHARACTERIZATION OF A SMALL 11Q23.3 DE-NOVO DUPLICATION IN A PATIENT WITH RETT-SYNDROME MANIFESTATIONS
Authors: DELOBEL B DELANNOY V PINI G ZAPELLA M TARDIEU M VALLEE L CROQUETTE MF
Citation: B. Delobel et al., IDENTIFICATION AND MOLECULAR CHARACTERIZATION OF A SMALL 11Q23.3 DE-NOVO DUPLICATION IN A PATIENT WITH RETT-SYNDROME MANIFESTATIONS, American journal of medical genetics, 80(3), 1998, pp. 273-280
SEVERE PHENOTYPE RESULTING FROM AN ACTIVE RING X-CHROMOSOME IN A FEMALE WITH A COMPLEX KARYOTYPE - CHARACTERIZATION AND REPLICATION STUDY
Authors: STAVROPOULOU C MIGNON C DELOBEL B MONCLA A DEPETRIS D CROQUETTE MF MATTEI MG
Citation: C. Stavropoulou et al., SEVERE PHENOTYPE RESULTING FROM AN ACTIVE RING X-CHROMOSOME IN A FEMALE WITH A COMPLEX KARYOTYPE - CHARACTERIZATION AND REPLICATION STUDY, Journal of Medical Genetics, 35(11), 1998, pp. 932-938
HOMOLOGOUS T-CELL AND B-CELL IMMORTALIZED IN-VITRO BY THE EPSTEIN-BARR-VIRUS EXHIBIT DIFFERENTIAL GENETIC AND FUNCTIONAL FEATURES
Authors: MONTPELLIER C CREPIEUX P QUATANNENS B DELOBEL B CROQUETTE MF STEHELIN D AURIAULT C GROUX H COLL J
Citation: C. Montpellier et al., HOMOLOGOUS T-CELL AND B-CELL IMMORTALIZED IN-VITRO BY THE EPSTEIN-BARR-VIRUS EXHIBIT DIFFERENTIAL GENETIC AND FUNCTIONAL FEATURES, International journal of oncology, 11(1), 1997, pp. 87-96
THE FRAGILE-X-SYNDROME IS STILL UNDERDIAG NOSED - EFFICACY OF MOLECULAR TESTING IN MENTALLY-RETARDED PROBANDS
Authors: COSSEE M MOUTOU C BIANCALANA V BOUIX JC PLESSIS G DELOBEL B CROQUETTE MF GILGENKRANTZ S LAMBERT JC MALPUECH G STOLL C LANOE JL PECHEVIS M MANDEL JL
Citation: M. Cossee et al., THE FRAGILE-X-SYNDROME IS STILL UNDERDIAG NOSED - EFFICACY OF MOLECULAR TESTING IN MENTALLY-RETARDED PROBANDS, Archives de pediatrie, 4(3), 1997, pp. 227-236
THE SMITH-MAGENIS-SYNDROME
Authors: LIVET MO MONCLA A DELOBEL B CROQUETTE MF PHILIP N VALLEE L
Citation: Mo. Livet et al., THE SMITH-MAGENIS-SYNDROME, Archives de pediatrie, 4(12), 1997, pp. 1231-1237
JEJUNAL ATRESIA AND PERSISTENT MULLERIAN DUCT SYNDROME
Authors: KLOSOWSKI S ABRIAK A MORISOT C BAYART HC BELVILLE C THELLIEZ P GOTTRAND F CROQUETTE MF DEROUBAIX P
Citation: S. Klosowski et al., JEJUNAL ATRESIA AND PERSISTENT MULLERIAN DUCT SYNDROME, Archives de pediatrie, 4(12), 1997, pp. 1264-1265
CONTRIBUTION OF KARYOTYPE IN THE DIAGNOSI S OF IMMUNE-DEFICIENCY - REPORT OF A CASE OF IMMUNE-DEFICIENCY ASSOCIATED WITH CHROMOSOMAL INSTABILITY
Authors: DESCHILDRE A CROQUETTE MF FERRARO F VIGNERON P DELOBEL B LEJEUNE C DOREMUS B LECLERC F
Citation: A. Deschildre et al., CONTRIBUTION OF KARYOTYPE IN THE DIAGNOSI S OF IMMUNE-DEFICIENCY - REPORT OF A CASE OF IMMUNE-DEFICIENCY ASSOCIATED WITH CHROMOSOMAL INSTABILITY, Revue francaise d'allergologie et d'immunologie clinique, 37(2), 1997, pp. 137-142
COLLABORATIVE STUDY OF MOSAIC TETRASOMY 12P OR PALLISTER-KILLIAN-SYNDROME (19 FETUSES OR CHILDREN)
Authors: MATHIEU M PIUSSAN C THEPOT F GOUGET A LACOMBE D PEDESPAN JM SERVILLE F FONTAN D RUFFIE M NIVELONCHEVALLIER A AMBLARD F CHAUVEAU P MOIROT H CHABROLLE JP CROQUETTE MF TEYSSIER M PLAUCHU H PELISSIER MC GILGENKRANTZ S TURCCAREL C TURLEAU C PRIEUR M LEMERRER M GONZALES M JOYE N TAILLEMITE JL BOUILLIE J ESCHARD C MOTTE J JOURNEL H
Citation: M. Mathieu et al., COLLABORATIVE STUDY OF MOSAIC TETRASOMY 12P OR PALLISTER-KILLIAN-SYNDROME (19 FETUSES OR CHILDREN), Annales de genetique, 40(1), 1997, pp. 45-54
A GENOME-SEQUENCE BASED APPROACH TO COMPUTATIONAL AND EXPERIMENTAL CANDIDATE GENE ANALYSIS OF WOLF-HIRSCHHORN-SYNDROME
Authors: STEC I DENDUNNEN JT VANHAERINGEN A CROQUETTE MF DONNAI D TOUTAIN A MOORMAN AFM DEBOER PAJ VANOMMEN GJB
Citation: I. Stec et al., A GENOME-SEQUENCE BASED APPROACH TO COMPUTATIONAL AND EXPERIMENTAL CANDIDATE GENE ANALYSIS OF WOLF-HIRSCHHORN-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 1415-1415
CLINICAL HETEROGENEITY IN 16 PATIENTS WITH INV-DUP-15 CHROMOSOME - CYTOGENETIC AND MOLECULAR STUDIES, SEARCH FOR AN IMPRINTING EFFECT
Authors: MIGNON C MALZAC P MONCLA A DEPETRIS D ROECKEL N CROQUETTE MF MATTEI MG
Citation: C. Mignon et al., CLINICAL HETEROGENEITY IN 16 PATIENTS WITH INV-DUP-15 CHROMOSOME - CYTOGENETIC AND MOLECULAR STUDIES, SEARCH FOR AN IMPRINTING EFFECT, European journal of human genetics, 4(2), 1996, pp. 88-100
MOLECULAR MAPPING OF A YQ DELETION IN A PATIENT WITH NORMAL STATURE
Authors: ROUSSEAUXPREVOST R RIGOT JM DELOBEL B LESUR P COLLIER F CROQUETTE MF GAUTHIER A MAZEMAN E ROUSSEAUX J
Citation: R. Rousseauxprevost et al., MOLECULAR MAPPING OF A YQ DELETION IN A PATIENT WITH NORMAL STATURE, Human genetics, 98(4), 1996, pp. 505-507
SYNAPTIC BEHAVIOR OF SEX-CHROMOSOME IN 2 XYY MEN
Authors: GABRIELROBEZ O DELOBEL B CROQUETTE MF RIGOT JM DJLELATI R RUMPLER Y
Citation: O. Gabrielrobez et al., SYNAPTIC BEHAVIOR OF SEX-CHROMOSOME IN 2 XYY MEN, Annales de genetique, 39(3), 1996, pp. 129-132
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
XY-QUADRIVALENT ASSOCIATION AND STERILITY IN A MAN CARRIER OF A RECIPROCAL AUTOSOMAL TRANSLOCATION INVOLVING THE WHOLE-ARM OF AN ACROCENTRIC CHROMOSOME T(2-15)(Q21.3-CEN)
Authors: YU WR GABRIELROBEZ O CROQUETTE MF RIGOT JM RUMPLER Y
Citation: Wr. Yu et al., XY-QUADRIVALENT ASSOCIATION AND STERILITY IN A MAN CARRIER OF A RECIPROCAL AUTOSOMAL TRANSLOCATION INVOLVING THE WHOLE-ARM OF AN ACROCENTRIC CHROMOSOME T(2-15)(Q21.3-CEN), Andrologia, 27(3), 1995, pp. 171-174
IS PALLISTER-KILLIAN SYNDROME UNDERDIAGNOSED - A FRENCH COLLABORATIVESTUDY OF MOSAIC TETRASOMY 12P
Authors: MATHIEU M PIUSSAN C THEPOT F SERVILLE F FONTA D RUFFLER M NIVELONCHEVALLIER A TURCCAREL C CHAUVEAU P MOIROT H CHABROLLE JP MOTTE J ESCHARD C CROQUETTE MF JOURNEL H TURLEAU C GOUGET A PELISSIER MC TEYSSIER M PLAUCHU H AMBLARD F GILGENKRANZ S LEMERRER M PRIEUR M
Citation: M. Mathieu et al., IS PALLISTER-KILLIAN SYNDROME UNDERDIAGNOSED - A FRENCH COLLABORATIVESTUDY OF MOSAIC TETRASOMY 12P, American journal of human genetics, 57(4), 1995, pp. 532-532
MOLECULAR MAPPING OF 21 FEATURES ASSOCIATED WITH PARTIAL MONOSOMY-21 - INVOLVEMENT OF THE APP-SOD1 REGION
Authors: CHETTOUH Z CROQUETTE MF DELOBEL B GILGENKRANTS S LEONARD C MAUNOURY C PRIEUR M RETHORE MO SINET PM CHERY M DELABAR JM
Citation: Z. Chettouh et al., MOLECULAR MAPPING OF 21 FEATURES ASSOCIATED WITH PARTIAL MONOSOMY-21 - INVOLVEMENT OF THE APP-SOD1 REGION, American journal of human genetics, 57(1), 1995, pp. 62-71
A PROPOSED NEW CONTIGUOUS GENE SYNDROME ON 8Q CONSISTS OF BRANCHIOOTORENAL (BOR) SYNDROME, DUANE SYNDROME, A DOMINANT FORM OF HYDROCEPHALUSAND TRAPEZE APLASIA - IMPLICATIONS FOR THE MAPPING OF THE BOR GENE
Authors: VINCENT C KALATZIS V COMPAIN S LEVILLIERS J SLIM R GRAIA F PEREIRA MD NIVELON A CROQUETTE MF LACOMBE D VIGNERON J HELIAS J BROYER M CALLEN DF HAAN EA WEISSENBACH J LACROIX B BELLANECHANTELOT C LEPASLIER D COHEN D PETIT C
Citation: C. Vincent et al., A PROPOSED NEW CONTIGUOUS GENE SYNDROME ON 8Q CONSISTS OF BRANCHIOOTORENAL (BOR) SYNDROME, DUANE SYNDROME, A DOMINANT FORM OF HYDROCEPHALUSAND TRAPEZE APLASIA - IMPLICATIONS FOR THE MAPPING OF THE BOR GENE, Human molecular genetics, 3(10), 1994, pp. 1859-1866
THE MEIOTIC PAIRING BEHAVIOR IN HUMAN SPERMATOCYTES CARRIER OF CHROMOSOME-ANOMALIES AND THEIR REPERCUSSIONS ON REPRODUCTIVE FITNESS .1. INVERSIONS AND INSERTIONS - A EUROPEAN COLLABORATIVE STUDY
Authors: GABRIELROBEZ O RUMPLER Y BATANIAN J CHANDLEY AC COUTURIER J CROQUETTE MF DELAFONTAINE D GOLDMAN A GUICHAOUA MR HARGREAVE TB HULTEN MA JOHANNISSON R LEMAREC B LUCIANI JM MCBEATH S DEPERDIGO A RATOMPONIRINA C RIGOT JM SAADALLAH N TAILLEMITE JL SPEED RM YORTON L
Citation: O. Gabrielrobez et al., THE MEIOTIC PAIRING BEHAVIOR IN HUMAN SPERMATOCYTES CARRIER OF CHROMOSOME-ANOMALIES AND THEIR REPERCUSSIONS ON REPRODUCTIVE FITNESS .1. INVERSIONS AND INSERTIONS - A EUROPEAN COLLABORATIVE STUDY, Annales de genetique, 37(1), 1994, pp. 3-10
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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