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Results: 1-25 | 26-29
Results: 1-25/29
REFINED GENETIC-MAPPING OF THE DARIER LOCUS TO A LESS-THAN-1-CM REGION OF CHROMOSOME 12Q24.1, AND CONSTRUCTION OF A COMPLETE, HIGH-RESOLUTION P1 ARTIFICIAL CHROMOSOME BACTERIAL ARTIFICIAL CHROMOSOME CONTIG OF THE CRITICAL REGION
Authors: MONK S SAKUNTABHAI A CARTER SA BRYCE SD COX R HARRINGTON L LEVY E RUIZPEREZ VL KATSANTONI E KODVAWALA A MUNRO CS BURGE S LARREGUE M NAGY G REES JL LATHROP M MONACO AP STRACHAN T HOVNANIAN A
Citation: S. Monk et al., REFINED GENETIC-MAPPING OF THE DARIER LOCUS TO A LESS-THAN-1-CM REGION OF CHROMOSOME 12Q24.1, AND CONSTRUCTION OF A COMPLETE, HIGH-RESOLUTION P1 ARTIFICIAL CHROMOSOME BACTERIAL ARTIFICIAL CHROMOSOME CONTIG OF THE CRITICAL REGION, American journal of human genetics, 62(4), 1998, pp. 890-903
THE HUMAN 2',5'-OLIGOADENYLATE SYNTHETASE LOCUS IS COMPOSED OF 3 DISTINCT GENES CLUSTERED ON CHROMOSOME 12Q24.2 ENCODING THE 100-KDA, 69-KDA, AND 40-KDA FORMS
Authors: HOVNANIAN A REBOUILLAT D MATTEI MG LEVY ER MARIE I MONACO AP HOVANESSIAN AG
Citation: A. Hovnanian et al., THE HUMAN 2',5'-OLIGOADENYLATE SYNTHETASE LOCUS IS COMPOSED OF 3 DISTINCT GENES CLUSTERED ON CHROMOSOME 12Q24.2 ENCODING THE 100-KDA, 69-KDA, AND 40-KDA FORMS, Genomics (San Diego, Calif.), 52(3), 1998, pp. 267-277
CONFIRMATION OF LINKAGE OF CLOUSTON-SYNDROME (HIDROTIC ECTODERMAL DYSPLASIA) TO 13Q11-Q12.1 WITH EVIDENCE FOR MULTIPLE INDEPENDENT MUTATIONS
Authors: TAYLOR TD HAYFLICK SJ MCKINNON W GUTTMACHER AE HOVNANIAN A LITT M ZONANA J
Citation: Td. Taylor et al., CONFIRMATION OF LINKAGE OF CLOUSTON-SYNDROME (HIDROTIC ECTODERMAL DYSPLASIA) TO 13Q11-Q12.1 WITH EVIDENCE FOR MULTIPLE INDEPENDENT MUTATIONS, Journal of investigative dermatology, 111(1), 1998, pp. 83-85
DELETIONS WITHIN COL7A1 EXONS DISTANT FROM CONSENSUS SPLICE SITES ALTER SPLICING AND PRODUCE SHORTENED POLYPEPTIDES IN DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: SAKUNTABHAI A HAMMAMIHAUASLI N BODEMER C ROCHAT A PROST C BARRANDON Y DEPROST Y LATHROP M WOJNAROWSKA F BRUCKNERTUDERMAN L HOVNANIAN A
Citation: A. Sakuntabhai et al., DELETIONS WITHIN COL7A1 EXONS DISTANT FROM CONSENSUS SPLICE SITES ALTER SPLICING AND PRODUCE SHORTENED POLYPEPTIDES IN DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA, American journal of human genetics, 63(3), 1998, pp. 737-748
3 NOVEL POINT MUTATIONS IN THE KERATINOCYTE TRANSGLUTAMINASE (TGK) GENE IN LAMELLAR ICHTHYOSIS - SIGNIFICANCE FOR MUTANT TRANSCRIPT LEVEL, TGK IMMUNODETECTION AND ACTIVITY
Authors: PETIT E HUBER M ROCHAT A BODEMER C TEILLACHAMEL D MUH JP REVUZ J BARRANDON Y LATHROP M DEPROST Y HOHL D HOVNANIAN A
Citation: E. Petit et al., 3 NOVEL POINT MUTATIONS IN THE KERATINOCYTE TRANSGLUTAMINASE (TGK) GENE IN LAMELLAR ICHTHYOSIS - SIGNIFICANCE FOR MUTANT TRANSCRIPT LEVEL, TGK IMMUNODETECTION AND ACTIVITY, European journal of human genetics, 5(4), 1997, pp. 218-228
A SEQUENCE-READY PHYSICAL MAP OF A REGION OF 12Q24.1
Authors: RENAULT B HOVNANIAN A BRYCE S CHANG JJ LAU S SAKUNTABHAI A MONK S CARTER S ROSS CJD PANG J TWELLS R CHAMBERLAIN S MONACO AP STRACHAN T KUCHERLAPATI R
Citation: B. Renault et al., A SEQUENCE-READY PHYSICAL MAP OF A REGION OF 12Q24.1, Genomics, 45(2), 1997, pp. 271-278
CHARACTERIZATION OF 18 NEW MUTATIONS IN COL7A1 IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA PROVIDES EVIDENCE FOR DISTINCT MOLECULAR MECHANISMS UNDERLYING DEFECTIVE ANCHORING FIBRIL FORMATION
Authors: HOVNANIAN A ROCHAT A BODEMER C PETIT E RIVERS CA PROST C FRAITAG S CHRISTIANO AM UITTO J LATHROP M BARRANDON Y DEPROST Y
Citation: A. Hovnanian et al., CHARACTERIZATION OF 18 NEW MUTATIONS IN COL7A1 IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA PROVIDES EVIDENCE FOR DISTINCT MOLECULAR MECHANISMS UNDERLYING DEFECTIVE ANCHORING FIBRIL FORMATION, American journal of human genetics, 61(3), 1997, pp. 599-610
A MOLECULAR DEFECT IN LORICRIN, THE MAJOR COMPONENT OF THE CORNIFIED CELL-ENVELOPE, UNDERLIES VOHWINKELS-SYNDROME
Authors: MAESTRINI E MONACO AP MCGRATH JA ISHIDAYAMAMOTO A CAMISA C HOVNANIAN A WEEKS DE LATHROP M UITTO J CHRISTIANO AM
Citation: E. Maestrini et al., A MOLECULAR DEFECT IN LORICRIN, THE MAJOR COMPONENT OF THE CORNIFIED CELL-ENVELOPE, UNDERLIES VOHWINKELS-SYNDROME, Nature genetics, 13(1), 1996, pp. 70-77
PERTURBATIONS IN THE EPIDERMAL CORNIFIED CELL-ENVELOPE IN VOHWINKELS-SYNDROME - GENETIC-LINKAGE TO THE EPIDERMAL DIFFERENTIATION COMPLEX IN1Q21 AND IDENTIFICATION OF A MUTATION IN THE LORICRIN GENE
Authors: CHRISTIANO AM MAESTRINI E MONACO A MCGRATH J ISHIDAYAMAMOTO A CAMISA C HOVNANIAN A LATHROP M UITTO J
Citation: Am. Christiano et al., PERTURBATIONS IN THE EPIDERMAL CORNIFIED CELL-ENVELOPE IN VOHWINKELS-SYNDROME - GENETIC-LINKAGE TO THE EPIDERMAL DIFFERENTIATION COMPLEX IN1Q21 AND IDENTIFICATION OF A MUTATION IN THE LORICRIN GENE, Journal of investigative dermatology, 106(4), 1996, pp. 34-34
PREMATURE TERMINATION CODON MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: UITTO J HOVNANIAN A CHRISTIANO AM
Citation: J. Uitto et al., PREMATURE TERMINATION CODON MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Proceedings of the Association of American Physicians, 107(2), 1995, pp. 245-252
PACHYDERMODACTYLY AND ATROPHIA MACULOSA VARIOLIFORMIS CUTIS
Authors: CALLOT V WECHSLER J HOVNANIAN A REVUZ J
Citation: V. Callot et al., PACHYDERMODACTYLY AND ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, Dermatology, 190(1), 1995, pp. 56-58
INHERITED EADERMOLYSIS-BULLOSA - TOWARDS CLASSIFICATION AND GENETICS COUNSELING BASED UPON IDENTIFICATION OF MOLECULAR DEFECTS
Authors: HOVNANIAN A DEPROST Y
Citation: A. Hovnanian et Y. Deprost, INHERITED EADERMOLYSIS-BULLOSA - TOWARDS CLASSIFICATION AND GENETICS COUNSELING BASED UPON IDENTIFICATION OF MOLECULAR DEFECTS, Archives de pediatrie, 2(3), 1995, pp. 292-292
DNA-BASED PRENATAL-DIAGNOSIS OF GENETIC S KIN DISEASES
Authors: HOVNANIAN A DEPROST Y
Citation: A. Hovnanian et Y. Deprost, DNA-BASED PRENATAL-DIAGNOSIS OF GENETIC S KIN DISEASES, Annales de dermatologie et de venereologie, 122(4), 1995, pp. 173-185
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
DNA-BASED PRENATAL TESTING FOR RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 16 FAMILIES AT RISK FOR RECURRENCE
Authors: UITTO J HOVNANIAN A CHRISTIANO AM
Citation: J. Uitto et al., DNA-BASED PRENATAL TESTING FOR RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 16 FAMILIES AT RISK FOR RECURRENCE, Journal of investigative dermatology, 104(4), 1995, pp. 667-667
INHERITED EPIDERMOLYSIS-BULLOSA - TOWARDS CLASSIFICATION AND GENETICSCOUNSELING BASED UPON IDENTIFICATION OF MOLECULAR DEFECTS
Authors: HOVNANIAN A DEPROST Y
Citation: A. Hovnanian et Y. Deprost, INHERITED EPIDERMOLYSIS-BULLOSA - TOWARDS CLASSIFICATION AND GENETICSCOUNSELING BASED UPON IDENTIFICATION OF MOLECULAR DEFECTS, Archives de pediatrie, 1(11), 1994, pp. 1028-1033
PREMATURE TERMINATION CODONS ON BOTH ALLELES OF THE TYPE-VII COLLAGENGENE (COL7A1) IN 3 JAPANESE BROTHERS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: CHRISTIANO AM SUGA Y HOVNANIAN A GREENSPAN DS OGAWA H UITTO J
Citation: Am. Christiano et al., PREMATURE TERMINATION CODONS ON BOTH ALLELES OF THE TYPE-VII COLLAGENGENE (COL7A1) IN 3 JAPANESE BROTHERS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 103(6), 1994, pp. 845-845
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
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
HETEROGENEITY OF MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN DIFFERENT FORMS OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: UITTO J HOVNANIAN A CHRISTIANO AM
Citation: J. Uitto et al., HETEROGENEITY OF MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN DIFFERENT FORMS OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 103(6), 1994, pp. 854-854
EXPRESSION OF 72-KDA GELATINASE (MMP-2) COLLAGENASE (MMP-1) AND TISSUE METALLOPROTEINASE INHIBITOR (TIMP) IN PRIMARY PIG SKIN FIBROBLAST-CULTURES DERIVED FROM RADIATION-INDUCED SKIN FIBROSIS
Authors: LAFUMA C ELNABOUT RA CRECHET F HOVNANIAN A MARTIN M
Citation: C. Lafuma et al., EXPRESSION OF 72-KDA GELATINASE (MMP-2) COLLAGENASE (MMP-1) AND TISSUE METALLOPROTEINASE INHIBITOR (TIMP) IN PRIMARY PIG SKIN FIBROBLAST-CULTURES DERIVED FROM RADIATION-INDUCED SKIN FIBROSIS, Journal of investigative dermatology, 102(6), 1994, pp. 945-950
HETEROGENEITY OF MUTATIONS IN THE TYPE-VII COLLAGEN GENE IN DIFFERENTFORMS OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA (RDEB) - PREMATURE TERMINATION CODONS (PTC) VS MISSENSE MUTATIONS
Authors: UITTO J HOVNANIAN A CHRISTIANO AM
Citation: J. Uitto et al., HETEROGENEITY OF MUTATIONS IN THE TYPE-VII COLLAGEN GENE IN DIFFERENTFORMS OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA (RDEB) - PREMATURE TERMINATION CODONS (PTC) VS MISSENSE MUTATIONS, Journal of investigative dermatology, 102(4), 1994, pp. 559-559
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
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
Risultati: 1-25 | 26-29