AAAAAA
Results: 1-25/33
Authors:
JACQUOT S
MERIENNE K
TRIVIER E
SCHWARTZ C
PANNETIER S
HANAUER A
Citation: S. Jacquot et al., COFFIN-LOWRY-SYNDROME - RSK2 GENE STRUCTURE AND MUTATION ANALYSIS, European journal of human genetics, 6, 1998, pp. 3006-3006
Authors:
DENDUNNEN JT
KRAAYENBRINK T
VANSCHOONEVELD M
VANDEVOSSE E
DEJONG PTVM
TENBRINK JB
SCHUURMAN E
TIJMES N
VANOMMEN GJB
BERGEN AAB
ANDOLFI G
MONTINI E
LI Y
OUDET C
BOLZ H
KAPLAN J
ORTH U
GAL A
HANAUER A
BARDELLI AM
AYUSO C
DIAZ FJ
BITOUN P
VENTRUTO V
BALLABIO A
FRANCO B
HIRIYANNA KT
BINGHAM EL
MCHENRY C
PAWAR H
COATS C
DARGA T
RICHARDS JE
SIEVING PA
HUOPANIEMI L
RANTALA A
ROSENBERG T
DAHL N
WRIGHT A
DELACHAPELLE A
ALITALO T
LENZNER S
BRUNNER B
FEIL S
NIESLER B
SCHULZ U
PINCKERS A
BLANKENNAGEL A
RUETHER K
KELLNER U
RAPPOLD G
ROPERS HH
KALSCHEUER V
BERGER W
TRUMP D
WALPOLE SM
NICOLAOU A
GAYTHOR SA
PIMENIDES D
GEORGE NDL
MOORE UT
YATES JRW
Citation: Jt. Dendunnen et al., FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS), Human molecular genetics (Print), 7(7), 1998, pp. 1185-1192
Authors:
DECESARE D
JACQUOT S
HANAUER A
SASSONECORSI P
Citation: D. Decesare et al., RSK-2 ACTIVITY IS NECESSARY FOR EPIDERMAL GROWTH FACTOR-INDUCED PHOSPHORYLATION OF CREB PROTEIN AND TRANSCRIPTION OF C-FOS GENE, Proceedings of the National Academy of Sciences of the United Statesof America, 95(21), 1998, pp. 12202-12207
Authors:
MERIENNE K
JACQUOT S
TRIVIER E
PANNETIER S
ROSSI A
SCOTT C
SCHINZEL A
CASTELLAN C
KRESS W
HANAUER A
Citation: K. Merienne et al., RAPID IMMUNOBLOT AND KINASE ASSAY TESTS FOR A SYNDROMAL FORM OF X-LINKED MENTAL-RETARDATION - COFFIN-LOWRY-SYNDROME, Journal of Medical Genetics, 35(11), 1998, pp. 890-894
Authors:
WALDER RY
SHALEV H
BRENNAN TMH
CARMI R
ELBEDOUR K
SCOTT DA
HANAUER A
MARK AL
PATIL S
STONE EM
SHEFFIELD VC
Citation: Ry. Walder et al., FAMILIAL HYPOMAGNESEMIA MAPS TO CHROMOSOME 9Q, NOT TO THE X-CHROMOSOME - GENETIC-LINKAGE MAPPING AND ANALYSIS OF A BALANCED TRANSLOCATION BREAKPOINT, Human molecular genetics, 6(9), 1997, pp. 1491-1497
Authors:
ROWE PSN
OUDET CL
FRANCIS F
SINDING C
PANNETIER S
ECONS MJ
STROM TM
MEITINGER T
GARABEDIAN M
DAVID A
MACHER MA
QUESTIAUX E
POPOWSKA E
PRONICKA E
READ AP
MOKRZYCKI A
GLORIEUX FH
DREZNER MK
HANAUER A
LEHRACH H
GOULDING JN
ORIORDAN JLH
Citation: Psn. Rowe et al., DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP), Human molecular genetics, 6(4), 1997, pp. 539-549
Authors:
HANAUER A
TRIVIER E
DECESARE D
JACQUOT S
PANNETIER S
SASSONECORSI P
MANDEL JL
Citation: A. Hanauer et al., THE COFFIN-LOWRY SYNDROME, MS. Medecine sciences, 13(1), 1997, pp. 107-108
Authors:
OUDET C
MARTINCOIGNARD D
PANNETIER S
PRAUD E
CHAMPION G
HANAUER A
Citation: C. Oudet et al., A 2ND FAMILY WITH XLRH DISPLAYS THE MUTATION-S244L IN THE CLCN5 GENE, Human genetics, 99(6), 1997, pp. 781-784
Authors:
VANDEVOSSE E
FRANCO B
VANDERBENT P
MONTINI E
ORTH U
HANAUER A
TIJMES N
VANOMMEN GJB
BALLABIO A
DENDUNNEN JT
BERGEN AAB
Citation: E. Vandevosse et al., EXCLUSION OF PPEF AS THE GENE CAUSING X-LINKED JUVENILE RETINOSCHISIS, Human genetics, 101(2), 1997, pp. 235-237
Authors:
BERGEN AAB
VANDEVOSSE E
FRANCO B
VANDERBENT P
BAKKER E
MONTINI E
HANAUER A
TIJMES E
VANOMMEN GJB
BALLABIO A
DENDUNNEN JT
Citation: Aab. Bergen et al., REFINEMENT OF THE LOCALIZATION OF THE X-LINKED RETINOSCHISIS GENE, American journal of human genetics, 61(4), 1997, pp. 1559-1559
Authors:
WALDER RY
SHALEV H
CARMI R
ELBEDOUR K
HANAUER A
PATIL S
BRENNAN TMH
SCOTT DA
MARK AL
STONE EM
SHEFFIELD VC
Citation: Ry. Walder et al., HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA (HSH) - NARROWING THE DISEASE REGION ON CHROMOSOME-9 AND MAPPING THE BREAKPOINT IN A HSH AFFECTED FEMALE WITH BALANCED X-9 TRANSLOCATION, American journal of human genetics, 61(4), 1997, pp. 1747-1747
Authors:
ABIDI F
LASSITER C
TRIVIER E
HANAUER A
SCHWARTZ C
Citation: F. Abidi et al., NOVEL MUTATIONS IN RSK-2, THE CANDIDATE GENE FOR COFFIN-LOWRY-SYNDROME (CLS), American journal of human genetics, 61(4), 1997, pp. 1900-1900
Authors:
ROWE PSN
GOULDING JN
FRANCIS F
OUDET C
ECONS MJ
HANAUER A
LEHRACH H
READ AP
MOUNTFORD RC
SUMMERFIELD T
WEISSENBACH J
FRASER W
DREZNER MK
DAVIES KE
ORIORDAN JLH
Citation: Psn. Rowe et al., THE GENE FOR X-LINKED HYPOPHOSPHATEMIC RICKETS MAPS TO A 200-300 KB REGION IN XP22.1, AND IS LOCATED ON A SINGLE YAC CONTAINING A PUTATIVE VITAMIN-D RESPONSE ELEMENT (VDRE), Human genetics, 97(3), 1996, pp. 345-352
Authors:
TRIVIER E
DECESARE D
JACQUOT S
PANNETIER S
ZACKAI E
YOUNG I
MANDEL JL
SASSONECORSI P
HANAUER A
Citation: E. Trivier et al., MUTATIONS IN THE KINASE RSK-2 ASSOCIATED WITH COFFIN-LOWRY SYNDROME, Nature, 384(6609), 1996, pp. 567-570
Authors:
FRANCIS F
HENNIG S
KORN B
REINHARDT R
DEJONG P
POUSTKA A
LEHRACH H
ROWE PSN
GOULDING JN
SUMMERFIELD T
MOUNTFORD R
READ AP
POPOWSKA E
PRONICKA E
DAVIES KE
ORIORDAN JLH
ECONS MJ
NESBITT T
DREZNER MK
OUDET C
PANNETIER S
HANAUER A
STROM TM
MEINDL A
LORENZ B
CAGNOLI M
MOHNIKE KL
MURKEN J
MEITINGER T
Citation: F. Francis et al., A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS, Nature genetics, 11(2), 1995, pp. 130-136
Authors:
DUMUR V
TRIVIER E
PUECH B
PEUGNET F
ZANLONGHI X
HACHE JC
HANAUER A
Citation: V. Dumur et al., GENETIC-ANALYSIS OF NEW FRENCH X-LINKED JUVENILE RETINOSCHISIS KINDREDS USING MICROSATELLITE MARKERS CLOSELY LINKED TO THE RS LOCUS - FURTHER NARROWING OF THE RS CANDIDATE REGION, Human genetics, 96(1), 1995, pp. 79-82
Authors:
SAMSON F
MESNARD L
HEIMBURGER M
HANAUER A
CHEVALLAY M
MERCADIER JJ
PELISSIER JF
FEINGOLD N
JUNIEN C
MANDEL JL
FARDEAU M
Citation: F. Samson et al., GENETIC-LINKAGE HETEROGENEITY IN MYOTUBULAR MYOPATHY, American journal of human genetics, 57(1), 1995, pp. 120-126
Authors:
PIUSSAN C
HANAUER A
DAHL N
MATHIEU M
KOLSKI C
BIANCALANA V
HEYBERGER S
STRUNSKI V
Citation: C. Piussan et al., X-LINKED PROGRESSIVE MIXED DEAFNESS - A NEW MICRODELETION THAT INVOLVES A MORE PROXIMAL REGION IN XQ21, American journal of human genetics, 56(1), 1995, pp. 224-230
Authors:
BIANCALANA V
TRIVIER E
WEBER C
WEISSENBACH J
ROWE PSN
ORIORDAN JLH
PARTINGTON MW
HEYBERGER S
OUDET C
HANAUER A
Citation: V. Biancalana et al., CONSTRUCTION OF A HIGH-RESOLUTION LINKAGE MAP FOR XP22.1-P22.2 AND REFINEMENT OF THE GENETIC LOCALIZATION OF THE COFFIN-LOWRY SYNDROME GENE, Genomics, 22(3), 1994, pp. 617-625
Authors:
CHERY M
BIANCALANA V
PHILIPPE C
MALPUECH G
CARLA H
GILGENKRANTZ S
MANDEL JL
HANAUER A
Citation: M. Chery et al., HYPOMAGENSEMIA WITH SECONDARY HYPOCALCEMIA IN A FEMALE WITH BALANCED X9 TRANSLOCATION - MAPPING OF THE XP22 CHROMOSOME BREAKPOINT, Human genetics, 93(5), 1994, pp. 587-591
Authors:
ROWE PSN
GOULDING J
READ A
LEHRACH H
FRANCIS F
HANAUER A
OUDET C
BIANCALANA V
KOOH SW
DAVIES KE
ORIORDAN JLH
Citation: Psn. Rowe et al., REFINING THE GENETIC-MAP FOR THE REGION FLANKING THE X-LINKED HYPOPHOSPHATEMIC RICKETS LOCUS (XP22.1-22.2), Human genetics, 93(3), 1994, pp. 291-294
Authors:
DAHL N
BIANCALANA V
HANAUER A
HU L
LAPORTE J
LEPASLIER D
COHEN D
PIUSSAN C
MANDEL JL
Citation: N. Dahl et al., DELETION MAPPING OF THE DFN3 LOCUS AT XQ21.1, Cytogenetics and cell genetics, 67(4), 1994, pp. 336-336
Authors:
TRIVIER E
BIANCALANA Y
OUDET C
DUMUR V
HANAUER A
Citation: E. Trivier et al., CONSTRUCTION OF A YAC CONTIG IN THE XP22 REGION CONTAINING THE COFFIN-LOWRY SYNDROME AND THE RETINOSCHISIS GENES, Cytogenetics and cell genetics, 67(4), 1994, pp. 339-340
Authors:
OUDET C
TRIVIER E
BIANCALANA V
HANAUER A
Citation: C. Oudet et al., REFINED PHYSICAL LOCALIZATION OF 4 GENES AND 2 EXPRESSED SEQUENCED TAGS (EST) IN THE XP22.2-]XP22.1 REGION, Cytogenetics and cell genetics, 67(4), 1994, pp. 357-358
Authors:
HU LJ
BLUMENFELDHEYBERGER S
HANAUER A
WEISSENBACH J
MANDEL JL
Citation: Lj. Hu et al., NONSPECIFIC X-LINKED MENTAL-RETARDATION - LINKAGE ANALYSIS IN MRX2 AND MRX4 FAMILIES REVISITED, American journal of medical genetics, 51(4), 1994, pp. 569-574