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Results: 1-25 | 26-28
Results: 1-25/28
NOVEL RECURRENT NONSENSE MUTATION CAUSING NEUROFIBROMATOSIS TYPE-1 (NF1) IN A FAMILY SEGREGATING BOTH NF1 AND NOONAN-SYNDROME
Authors: BAHUAU M HOUDAYER C ASSOULINE B BLANCHETBARDON C LEMERRER M LYONNET S GIRAUD S RECAN D LAKHDAR H VIDAUD M VIDAUD D
Citation: M. Bahuau et al., NOVEL RECURRENT NONSENSE MUTATION CAUSING NEUROFIBROMATOSIS TYPE-1 (NF1) IN A FAMILY SEGREGATING BOTH NF1 AND NOONAN-SYNDROME, American journal of medical genetics, 75(3), 1998, pp. 265-272
LAMELLAR ICHTHYOSIS - FURTHER NARROWING, PHYSICAL AND EXPRESSION MAPPING OF THE CHROMOSOME-2 CANDIDATE LOCUS
Authors: PARMENTIER L BOUGHDENESTAMBOULI O LAKHDAR H BLANCHETBARDON C DUBERTRET L CLEPET C WUNDERLE E PULCINI F FIZAMES C WEISSENBACH J
Citation: L. Parmentier et al., LAMELLAR ICHTHYOSIS - FURTHER NARROWING, PHYSICAL AND EXPRESSION MAPPING OF THE CHROMOSOME-2 CANDIDATE LOCUS, Journal of investigative dermatology, 110(4), 1998, pp. 620-620
MAPPING OF PAPILLON-LEFEVRE-SYNDROME TO THE CHROMOSOME 11Q14 REGION
Authors: FISCHER J BLANCHETBARDON C PRUDHOMME JF PAVEK S STEIJLEN PM DUBERTRET L WEISSENBACH J
Citation: J. Fischer et al., MAPPING OF PAPILLON-LEFEVRE-SYNDROME TO THE CHROMOSOME 11Q14 REGION, European journal of human genetics, 5(3), 1997, pp. 156-160
PREDOMINANCE OF THE RECURRENT MUTATION R635X IN THE LAMB3 GENE IN EUROPEAN PATIENTS WITH HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA HAS IMPLICATIONS FOR MUTATION DETECTION STRATEGY
Authors: PULKKINEN L MENEGUZZI G MCGRATH JA XU Y BLANCHETBARDON C ORTONNE JP CHRISTIANO AM UITTO J
Citation: L. Pulkkinen et al., PREDOMINANCE OF THE RECURRENT MUTATION R635X IN THE LAMB3 GENE IN EUROPEAN PATIENTS WITH HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA HAS IMPLICATIONS FOR MUTATION DETECTION STRATEGY, Journal of investigative dermatology, 109(2), 1997, pp. 232-237
HIGH-INTENSITY LESION ON T1-WEIGHTED MR-IMAGES IN NEUROFIBROMATOSIS TYPE-1 - A CASE OF PREMALIGNANT LESION
Authors: MIAUX Y GUERMAZI A CORNU P MOKHTARI K SINGER B CHIRAS J BLANCHETBARDON C
Citation: Y. Miaux et al., HIGH-INTENSITY LESION ON T1-WEIGHTED MR-IMAGES IN NEUROFIBROMATOSIS TYPE-1 - A CASE OF PREMALIGNANT LESION, Acta neurochirurgica, 139(11), 1997, pp. 1085-1087
MAPPING OF A 2ND LOCUS FOR LAMELLAR ICHTHYOSIS TO CHROMOSOME 2Q33-35
Authors: PARMENTIER L LAKHDAR H BLANCHETBARDON C MARCHAND S DUBERTRET L WEISSENBACH J
Citation: L. Parmentier et al., MAPPING OF A 2ND LOCUS FOR LAMELLAR ICHTHYOSIS TO CHROMOSOME 2Q33-35, Human molecular genetics, 5(4), 1996, pp. 555-559
THE MONTHLY QUESTION - WHAT IS THE MDS RO LE IN PATIENTS ASSOCIATIONS- REPLY
Authors: BLANCHETBARDON C
Citation: C. Blanchetbardon, THE MONTHLY QUESTION - WHAT IS THE MDS RO LE IN PATIENTS ASSOCIATIONS- REPLY, Annales de dermatologie et de venereologie, 123(9), 1996, pp. 602-603
VARIABILITY AND PHYLOGENY OF THE L1 CAPSID PROTEIN GENE OF HUMAN PAPILLOMAVIRUS TYPE-5 - CONTRIBUTION OF CLUSTERS OF NONSYNONYMOUS MUTATIONS AND OF A 30-NUCLEOTIDE DUPLICATION
Authors: KAWASE M ORTH G JABLONSKA S BLANCHETBARDON C RUEDA LA FAVRE M
Citation: M. Kawase et al., VARIABILITY AND PHYLOGENY OF THE L1 CAPSID PROTEIN GENE OF HUMAN PAPILLOMAVIRUS TYPE-5 - CONTRIBUTION OF CLUSTERS OF NONSYNONYMOUS MUTATIONS AND OF A 30-NUCLEOTIDE DUPLICATION, Virology, 221(1), 1996, pp. 189-198
CT EXAMINATION OF ABDOMINAL LESIONS IN TYPE-I NEUROFIBROMATOSIS
Authors: ZAGDANSKI A GUERMAZI A BLANCHETBARDON C GOULA M DEKERVILER E FRIJA J
Citation: A. Zagdanski et al., CT EXAMINATION OF ABDOMINAL LESIONS IN TYPE-I NEUROFIBROMATOSIS, Radiology, 201, 1996, pp. 695-695
FAMILIAL PEELING SKIN SYNDROME WITH EOSINOPHILIA - CLINICAL, HISTOLOGIC, AND ULTRASTRUCTURAL-STUDY OF 3 CASES
Authors: JANIN A COPIN MC DUBOS JP ROULAND V DELAPORTE E BLANCHETBARDON C
Citation: A. Janin et al., FAMILIAL PEELING SKIN SYNDROME WITH EOSINOPHILIA - CLINICAL, HISTOLOGIC, AND ULTRASTRUCTURAL-STUDY OF 3 CASES, Archives of pathology and laboratory medicine, 120(7), 1996, pp. 662-665
AUTOSOMAL RECESSIVE LAMELLAR ICHTHYOSIS - IDENTIFICATION OF A NEW MUTATION IN TRANSGLUTAMINASE-1 AND EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: PARMENTIER L BLANCHETBARDON C NGUYEN S PRUDHOMME JF DUBERTRET L WEISSENBACH J
Citation: L. Parmentier et al., AUTOSOMAL RECESSIVE LAMELLAR ICHTHYOSIS - IDENTIFICATION OF A NEW MUTATION IN TRANSGLUTAMINASE-1 AND EVIDENCE FOR GENETIC-HETEROGENEITY, Human molecular genetics, 4(8), 1995, pp. 1391-1395
PRENATAL-DIAGNOSIS OF HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA BY AMNIOCENTESIS
Authors: MARINKOVICH MP MENEGUZZI G BURGESON RE BLANCHETBARDON C HOLBROOK KA SMITH LT CHRISTIANO AM ORTONNE JP
Citation: Mp. Marinkovich et al., PRENATAL-DIAGNOSIS OF HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA BY AMNIOCENTESIS, Prenatal diagnosis, 15(11), 1995, pp. 1027-1034
PACHYONYCHIA-CONGENITA, NEUROFIBROMATOSIS AND MOTOR AND SENSORY NEUROPATHY
Authors: BENSA AF DALAC S BEER F NIVELONCHEVALIER A BLANCHETBARDON C LAMBERT D
Citation: Af. Bensa et al., PACHYONYCHIA-CONGENITA, NEUROFIBROMATOSIS AND MOTOR AND SENSORY NEUROPATHY, Annales de dermatologie et de venereologie, 122(6-7), 1995, pp. 428-431
HYPOPIGMENTED MYCOSIS-FUNGOIDES
Authors: ROBERT C BAHLOULI Z CHEMALY P FLAGEUL B BLANCHETBARDON C DUBERTRET L
Citation: C. Robert et al., HYPOPIGMENTED MYCOSIS-FUNGOIDES, Annales de dermatologie et de venereologie, 122(10), 1995, pp. 704-706
A DELETION IN THE CDNA SEQUENCE ENCODING THE PEMPHIGOID ANTIGEN BP180UNDERLIES A BENIGN FORM OF JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: CHAVANAS S GACHE Y BLANCHETBARDON C ORTONNE JP MENEGUZZI G
Citation: S. Chavanas et al., A DELETION IN THE CDNA SEQUENCE ENCODING THE PEMPHIGOID ANTIGEN BP180UNDERLIES A BENIGN FORM OF JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 105(3), 1995, pp. 449-449
DNA-BASED PRENATAL-DIAGNOSIS OF GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 6 PREGNANCIES AT RISK FOR RECURRENCE
Authors: HOVNANIAN A HILAL L BLANCHETBARDON C BODEMER C DEPROST Y STARK CA CHRISTIANO AM DOMMERGUES M TERWILLIGER JD IZQUIERDO L CONTEVILLE P DUMEZ Y UITTO J GOOSSENS M
Citation: A. Hovnanian et al., DNA-BASED PRENATAL-DIAGNOSIS OF GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 6 PREGNANCIES AT RISK FOR RECURRENCE, Journal of investigative dermatology, 104(4), 1995, pp. 456-461
CHARACTERIZATION OF ELASTASES IN ONE CASE OF BLEPHAROCHALASIS
Authors: CAUX F BERANGER JY PINQUIER L BLANCHETBARDON C DUBERTRET L
Citation: F. Caux et al., CHARACTERIZATION OF ELASTASES IN ONE CASE OF BLEPHAROCHALASIS, Journal of investigative dermatology, 104(1), 1995, pp. 166-166
EPIDERMOLYTIC PALMOPLANTAR KERATODERMA COSEGREGATES WITH A KERATIN-9 MUTATION IN A PEDIGREE WITH BREAST AND OVARIAN-CANCER
Authors: TORCHARD D BLANCHETBARDON C SEROVA O LANGBEIN L NAROD S JANIN N GOGUEL AF BERNHEIM A FRANKE WW LENOIR GM FEUNTEUN J
Citation: D. Torchard et al., EPIDERMOLYTIC PALMOPLANTAR KERATODERMA COSEGREGATES WITH A KERATIN-9 MUTATION IN A PEDIGREE WITH BREAST AND OVARIAN-CANCER, Nature genetics, 6(1), 1994, pp. 106-110
RECURRENT NONSENSE MUTATIONS WITHIN THE TYPE-VII COLLAGEN GENE IN PATIENTS WITH SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: HOVNANIAN A HILAL L BLANCHETBARDON C DEPROST Y CHRISTIANO AM UITTO J GOOSSENS M
Citation: A. Hovnanian et al., RECURRENT NONSENSE MUTATIONS WITHIN THE TYPE-VII COLLAGEN GENE IN PATIENTS WITH SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 103(6), 1994, pp. 849-849
A MUTATION IN THE SPLICE DONOR SITE OF INTRON-1 IN THE KERATIN-5 GENEIN THE DOWLING-MEARA FORM OF EPIDERMOLYSIS-BULLOSA-SIMPLEX
Authors: HOVNANIAN A PREHU MO GUILLEMIN I BLANCHETBARDON C ROCHAT A GOSSELIN F BARRANDON Y GOOSSENS M
Citation: A. Hovnanian et al., A MUTATION IN THE SPLICE DONOR SITE OF INTRON-1 IN THE KERATIN-5 GENEIN THE DOWLING-MEARA FORM OF EPIDERMOLYSIS-BULLOSA-SIMPLEX, Journal of investigative dermatology, 103(6), 1994, pp. 849-849
A MUTATION IN THE SPLICE DONOR SITE OF INTRON-1 OF THE KERATIN-5 GENEIN THE DOWLING-MEARA FORM OF EPIDERMOLYSIS-BULLOSA-SIMPLEX
Authors: HOVNANIAN A PREHU MO GUILLEMIN I BLANCHETBARDON C ROCHAT A GOSSELIN F BARRANDON Y GOOSSENS M
Citation: A. Hovnanian et al., A MUTATION IN THE SPLICE DONOR SITE OF INTRON-1 OF THE KERATIN-5 GENEIN THE DOWLING-MEARA FORM OF EPIDERMOLYSIS-BULLOSA-SIMPLEX, Journal of investigative dermatology, 102(4), 1994, pp. 610-610
HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA KERATINOCYTES DISPLAY HETEROGENEOUS DEFECTS OF NICEIN KALININ GENE-EXPRESSION/
Authors: BAUDOIN C MIQUEL C BLANCHETBARDON C GAMBINI C MENEGUZZI G ORTONNE JP
Citation: C. Baudoin et al., HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA KERATINOCYTES DISPLAY HETEROGENEOUS DEFECTS OF NICEIN KALININ GENE-EXPRESSION/, The Journal of clinical investigation, 93(2), 1994, pp. 862-869
RECURRENT NONSENSE MUTATIONS WITHIN THE TYPE-VII COLLAGEN GENE IN PATIENTS WITH SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: HOVNANIAN A HILAL L BLANCHETBARDON C DEPROST Y CHRISTIANO AM UITTO J GOOSSENS M
Citation: A. Hovnanian et al., RECURRENT NONSENSE MUTATIONS WITHIN THE TYPE-VII COLLAGEN GENE IN PATIENTS WITH SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, American journal of human genetics, 55(2), 1994, pp. 289-296
A HOMOZYGOUS INSERTION-DELETION IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN HALLOPEAU-SIEMENS DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: HILAL L ROCHAT A DUQUESNOY P BLANCHETBARDON C WECHSLER J MARTIN N CHRISTIANO AM BARRANDON Y UITTO J GOOSSENS M HOVNANIAN A
Citation: L. Hilal et al., A HOMOZYGOUS INSERTION-DELETION IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN HALLOPEAU-SIEMENS DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Nature genetics, 5(3), 1993, pp. 287-293
PRENATAL-DIAGNOSIS OF GENODERMATOSES
Authors: BLANCHETBARDON C
Citation: C. Blanchetbardon, PRENATAL-DIAGNOSIS OF GENODERMATOSES, MS. Medecine sciences, 9(4), 1993, pp. 396-402
Risultati: 1-25 | 26-28