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Results: 1-25/62
Authors:
JEANPIERRE C
DENAMUR E
HENRY I
CABANIS MO
LUCE S
CECILLE A
ELION J
PEUCHMAUR M
LOIRAT C
NIAUDET P
GUBLER MC
JUNIEN C
Citation: C. Jeanpierre et al., IDENTIFICATION OF CONSTITUTIONAL WT1 MUTATIONS, IN PATIENTS WITH ISOLATED DIFFUSE MESANGIAL SCLEROSIS, AND ANALYSIS OF GENOTYPE PHENOTYPE CORRELATIONS BY USE OF A COMPUTERIZED MUTATION DATABASE/, American journal of human genetics, 62(4), 1998, pp. 824-833
Authors:
LIA AS
SEZNEC H
RADVANYI H
RADVANYI F
DUROS C
SAQUET C
BLANCHE M
JUNIEN C
GOURDON G
Citation: As. Lia et al., MYOTONIC-DYSTROPHY ASSOCIATED CTG SOMATIC INSTABILITY IS AGE-DEPENDENT BUT TRANSCRIPTION INDEPENDENT IN TRANSGENIC MICE, European journal of human genetics, 6, 1998, pp. 801-801
Authors:
LONGUEMAUX S
DELOMENIE C
BEROUD C
KRISHNAMOORTHY R
JUNIEN C
DUPRET JM
Citation: S. Longuemaux et al., PHARMACOGENETICS AND RISK OF RENAL-CELL CARCINOMA, European journal of human genetics, 6, 1998, pp. 1067-1067
Authors:
DELONLAY P
FOURNET JC
VERKARRE V
RAHIER J
JUNIEN C
NIHOULFEKETE C
ROBERT JJ
SAUDUBRAY JM
Citation: P. Delonlay et al., SYNDROME OF CONGENITAL HYPERINSULINISM AND HYPERAMMONEMIA IN 6 UNRELATED PATIENTS, European journal of human genetics, 6, 1998, pp. 1105-1105
Authors:
DELONLAY P
FOURNET JC
VERKARRE V
RAHIER J
ROBERT JJ
NIHOULFEKETE C
SAUDUBRAY JM
JUNIEN C
Citation: P. Delonlay et al., PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY (PHHI) IS A HETEROGENEOUS DISORDER WITH 2 HISTOLOGICAL FORMS AND DIFFERENT MOLECULAR-BASIS, European journal of human genetics, 6, 1998, pp. 1108-1108
Authors:
LIA AS
SEZNEC H
HOFMANNRADVANYI H
RADVANYI F
DUROS C
SAQUET C
BLANCHE M
JUNIEN C
GOURDON G
Citation: As. Lia et al., SOMATIC INSTABILITY OF THE CTG REPEAT IN MICE TRANSGENIC FOR THE MYOTONIC-DYSTROPHY REGION IS AGE-DEPENDENT BUT NOT CORRELATED TO THE RELATIVE INTERTISSUE TRANSCRIPTION LEVELS AND PROLIFERATIVE CAPACITIES, Human molecular genetics (Print), 7(8), 1998, pp. 1285-1291
Authors:
ANNANE D
FIORELLI M
MAZOYER B
PAPPATA S
EYMARD B
RADVANYI H
JUNIEN C
FARDEAU M
MERLET P
GAJDOS P
SYROTA A
SANSOM Y
DUBOC D
Citation: D. Annane et al., IMPAIRED CEREBRAL GLUCOSE-METABOLISM IN MYOTONIC-DYSTROPHY - A TRIPLET-SIZE DEPENDENT PHENOMENON, Neuromuscular disorders, 8(1), 1998, pp. 39-45
Authors:
COLLODBEROUD G
BEROUD C
ADES L
BLACK C
BOXER M
BROCKS DJH
HOLMAN KJ
DEPAEPE A
FRANCKE U
GRAU U
HAYWARD C
KLEIN HG
LIU WG
NUYTINCK L
PELTONEN L
PEREZ ABA
RANTAMAKI T
JUNIEN C
BOILEAU C
Citation: G. Collodberoud et al., MARFAN-DATABASE (3RD EDITION) - NEW MUTATIONS AND NEW ROUTINES FOR THE SOFTWARE, Nucleic acids research, 26(1), 1998, pp. 229-233
Authors:
VARRET M
RABES JP
THIART R
KOTZE MJ
BARON H
CENARRO A
DESCAMPS O
EBHARDT M
HONDELIJN JC
KOSTNER GM
MIYAKE Y
POCOVI M
SCHMIDT H
SCHMIDT H
SCHUSTER H
STUHRMANN M
YAMAMURA T
JUNIEN C
BEROUD C
BOILEAU C
Citation: M. Varret et al., LDLR DATABASE (2ND EDITION) - NEW ADDITIONS TO THE DATABASE AND THE SOFTWARE, AND RESULTS OF THE FIRST MOLECULAR ANALYSIS, Nucleic acids research, 26(1), 1998, pp. 248-252
Authors:
BEROUD C
JOLY D
GALLOU C
STAROZ F
ORFANELLI MT
JUNIEN C
Citation: C. Beroud et al., SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE VHL GENE, Nucleic acids research, 26(1), 1998, pp. 256-258
Authors:
JEANPIERRE C
BEROUD C
NIAUDET P
JUNIEN C
Citation: C. Jeanpierre et al., SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN WT1 GENE, Nucleic acids research, 26(1), 1998, pp. 271-274
Authors:
VERKARRE V
FOURNET JC
DELONLAY P
GROSSMORAND MS
DEVILLERS M
RAHIER J
BRUNELLE F
ROBERT JJ
NIHOULFEKUTE C
SAUDUBRAY JM
JUNIEN C
Citation: V. Verkarre et al., PATERNAL MUTATION OF THE SULFONYLUREA RECEPTOR (SUR1) GENE AND MATERNAL LOSS OF 11P15 IMPRINTED GENES LEAD TO PERSISTENT HYPERINSULINISM INFOCAL ADENOMATOUS HYPERPLASIA, The Journal of clinical investigation, 102(7), 1998, pp. 1286-1291
Authors:
DUBOC D
ANNANE D
LAFORET P
BECANNE HM
EYMARD B
GAJDOS P
JUNIEN C
WEBER S
MERLET P
JOLIOT F
Citation: D. Duboc et al., QUANTIFICATION OF CORONARY FLOW RESERVE BY POSITRON-EMISSION-TOMOGRAPHY IS A RELIABLE PREDICTOR OF CARDIAC EVENTS IN MYOTONIC-DYSTROPHY, Circulation, 98(17), 1998, pp. 1148-1148
Authors:
COLLODBEROUD G
BEROUD C
JUNIEN C
BOLLEAU C
Citation: G. Collodberoud et al., THE MARFAN DATABASE - A SOFTWARE FOR THE ANALYSIS OF MUTATIONS IN THEFBN1 GENE, Circulation, 98(17), 1998, pp. 3535-3535
Authors:
GOURDON G
RADVANYI F
LIA AS
DUROS C
BLANCHE M
ABITBOL M
JUNIEN C
HOFMANNRADVANYI H
Citation: G. Gourdon et al., MODERATE INTERGENERATIONAL AND SOMATIC INSTABILITY OF A 55-CTG REPEATIN TRANSGENIC MICE, Nature genetics, 15(2), 1997, pp. 190-192
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
Authors:
GOURDON G
LIA AS
DUROS C
JUNIEN C
Citation: G. Gourdon et al., MYOTONIC-DYSTROPHY - AN INTRIGUING UNSTABLE TRINUCLEOTIDE REPEAT, MS. Medecine sciences, 13(10), 1997, pp. 1123-1130
Authors:
COLLODBEROUD G
BEROUD C
ADES L
BLACK C
BOXER M
BROCK DJ
GODFREY M
HAYWARD C
KARTTUNEN L
MILEWICZ D
PELTONEN L
RICHARDS RI
WANG M
JUNIEN C
BOILEAU C
Citation: G. Collodberoud et al., MARFAN DATABASE (2ND EDITION) - SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1 GENE, Nucleic acids research, 25(1), 1997, pp. 147-150
Authors:
VARRET M
RABES JP
COLLODBEROUD G
JUNIEN C
BOILEAU C
BEROUD C
Citation: M. Varret et al., SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN LDL RECEPTOR GENE, Nucleic acids research, 25(1), 1997, pp. 172-180
Authors:
CHEHENSSE V
BOULVIN C
LUCE S
TORA L
JUNIEN C
HENRY I
Citation: V. Chehensse et al., ASSIGNMENT OF THE HUMAN TAF(II)30 GENE (TAF2H) TO HUMAN-CHROMOSOME BAND 11P15.3 USING SOMATIC-CELL HYBRIDS, Cytogenetics and cell genetics, 76(1-2), 1997, pp. 41-42
Authors:
DELONLAY P
FOURNET JC
RAHIER J
GROSSMORAND MS
POGGITRAVERT F
FOUSSIER V
BONNEFONT JP
BRUSSET MC
BRUNELLE F
ROBERT JJ
NIHOULFEKETE C
SAUDUBRAY JM
JUNIEN C
Citation: P. Delonlay et al., SOMATIC DELETION OF THE IMPRINTED 11P15 REGION IN SPORADIC PERSISTENTHYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY IS SPECIFIC OF FOCAL ADENOMATOUS HYPERPLASIA AND ENDORSES PARTIAL PANCREATECTOMY, The Journal of clinical investigation, 100(4), 1997, pp. 802-807
RESULTS OF THE MOLECULAR ANALYSIS OF THE 220 POINT MUTATIONS IN THE HUMAN LDL RECEPTOR GENE DATABASE
Authors:
VARRET M
RABES JP
COLLODBEROUD G
JUNIEN C
BEROUD C
BOILEAU C
Citation: M. Varret et al., RESULTS OF THE MOLECULAR ANALYSIS OF THE 220 POINT MUTATIONS IN THE HUMAN LDL RECEPTOR GENE DATABASE, Atherosclerosis, 134(1-2), 1997, pp. 74-74
Authors:
CHEHENSSE V
BOULVIN C
LUCE S
TORA L
JUNIEN C
HENRY I
Citation: V. Chehensse et al., DETECTION OF AN ECORI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM IN THEGENE ENCODING THE HUMAN TBP ASSOCIATED FACTOR-II-30 (TAF(II)30), Clinical genetics, 51(4), 1997, pp. 288-289
Authors:
GOURDON G
DESSEN P
LIA AS
JUNIEN C
HOFMANNRADVANYI H
Citation: G. Gourdon et al., INTRIGUING ASSOCIATION BETWEEN DISEASE-ASSOCIATED UNSTABLE TRINUCLEOTIDE REPEAT AND CPG ISLAND, Annales de genetique, 40(2), 1997, pp. 73-77
Authors:
DELONLAY P
FOURNET JC
VERKARRE V
RAHIER J
GROSSMORAND MS
BRUNELLE F
ROBERT JJ
NIHOULFEKETE C
SAUDUBRAY JM
JUNIEN C
Citation: P. Delonlay et al., SOMATIC DELETION OF THE IMPRINTED 11P15 REGION IN SPORADIC PERSISTENTHYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY IS SPECIFIC OF FOCAL ADENOMATOUS HYPERPLASIA, American journal of human genetics, 61(4), 1997, pp. 198-198