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Results: 1-25/187
A LOCUS FOR AUTOSOMAL RECESSIVE HYPODONTIA WITH ASSOCIATED DENTAL ANOMALIES MAPS TO CHROMOSOME 16Q12.1
Authors: AHMAD W BRANCOLINI V ULHAQUE MF LAM H ULHAQUE S HAIDER M MAIMON A AITA VM OWEN J BROWN D ZEGARELLI DJ AHMAD M OTT J CHRISTIANO AM
Citation: W. Ahmad et al., A LOCUS FOR AUTOSOMAL RECESSIVE HYPODONTIA WITH ASSOCIATED DENTAL ANOMALIES MAPS TO CHROMOSOME 16Q12.1, American journal of human genetics, 62(4), 1998, pp. 987-991
MOLECULAR AND FUNCTIONAL-ASPECTS OF THE HAIRLESS (HR) GENE IN LABORATORY RODENTS AND HUMANS
Authors: PANTELEYEV AA PAUS R AHMAD W SUNDBERG JP CHRISTIANO AM
Citation: Aa. Panteleyev et al., MOLECULAR AND FUNCTIONAL-ASPECTS OF THE HAIRLESS (HR) GENE IN LABORATORY RODENTS AND HUMANS, Experimental dermatology, 7(5), 1998, pp. 249-267
MOLECULAR-BASIS FOR THE RHINO YURLOVO (HR(RHY)) PHENOTYPE - SEVERE SKIN ABNORMALITIES AND FEMALE REPRODUCTIVE DEFECTS ASSOCIATED WITH AN INSERTION IN THE HAIRLESS GENE
Authors: PANTELEYEV AA AHMAD W MALASHENKO AM IGNATIEVA EL PAUS R SUNDBERG JP CHRISTIANO AM
Citation: Aa. Panteleyev et al., MOLECULAR-BASIS FOR THE RHINO YURLOVO (HR(RHY)) PHENOTYPE - SEVERE SKIN ABNORMALITIES AND FEMALE REPRODUCTIVE DEFECTS ASSOCIATED WITH AN INSERTION IN THE HAIRLESS GENE, Experimental dermatology, 7(5), 1998, pp. 281-288
MOLECULAR-BASIS OF A NOVEL RHINO (HR(RHCHR)) PHENOTYPE - A NONSENSE MUTATION IN THE MOUSE HAIRLESS GENE
Authors: AHMAD W PANTELEYEV AA HENSONAPOLLONIO V SUNDBERG JP CHRISTIANO AM
Citation: W. Ahmad et al., MOLECULAR-BASIS OF A NOVEL RHINO (HR(RHCHR)) PHENOTYPE - A NONSENSE MUTATION IN THE MOUSE HAIRLESS GENE, Experimental dermatology, 7(5), 1998, pp. 298-301
UNTITLED
Authors: CHRISTIANO AM LUGER T
Citation: Am. Christiano et T. Luger, UNTITLED, Experimental dermatology, 7(2-3), 1998, pp. 45-45
MOLECULAR-BASIS OF NONLETHAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA - IDENTIFICATION OF A 38 BASEPAIR INSERTION AND A SPLICE-SITE MUTATION IN EXON-14 OF THE LAMB3 GENE
Authors: CSERHALMIFRIEDMAN PB BADEN H BURGESON RE CHRISTIANO AM
Citation: Pb. Cserhalmifriedman et al., MOLECULAR-BASIS OF NONLETHAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA - IDENTIFICATION OF A 38 BASEPAIR INSERTION AND A SPLICE-SITE MUTATION IN EXON-14 OF THE LAMB3 GENE, Experimental dermatology, 7(2-3), 1998, pp. 105-111
MOLECULAR-BASIS FOR THE RHINO (HR(RH-8J)) PHENOTYPE - A NONSENSE MUTATION IN THE MOUSE HAIRLESS GENE
Authors: AHMAD W PANTELEYEV AA SUNDBERG JP CHRISTIANO AM
Citation: W. Ahmad et al., MOLECULAR-BASIS FOR THE RHINO (HR(RH-8J)) PHENOTYPE - A NONSENSE MUTATION IN THE MOUSE HAIRLESS GENE, Genomics (San Diego, Calif.), 53(3), 1998, pp. 383-386
THE GENETIC-BASIS OF SCARSDALE-GOURMET-DIET VARIEGATE PORPHYRIA - A MISSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE
Authors: FRANK J POHFITZPATRICK MB KING LE CHRISTIANO AM
Citation: J. Frank et al., THE GENETIC-BASIS OF SCARSDALE-GOURMET-DIET VARIEGATE PORPHYRIA - A MISSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE, Archives of dermatological research, 290(8), 1998, pp. 441-445
RECURRENT MISSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE UNDERLIES VARIEGATE PORPHYRIA
Authors: FRANK J JUGERT FK BREITKOPF C GOERZ G MERK HF CHRISTIANO AM
Citation: J. Frank et al., RECURRENT MISSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE UNDERLIES VARIEGATE PORPHYRIA, American journal of medical genetics, 79(1), 1998, pp. 22-26
ALOPECIA UNIVERSALIS ASSOCIATED WITH A MUTATION IN THE HUMAN HAIRLESSGENE
Authors: AHMAD W HAQUE WFU BRANCOLINI V TSOU HC HAQUE SU LAM H AITA VM OWEN J DEBLAQUIERE M FRANK J CSERHALMIFRIEDMAN PB LEASK A MCGRATH JA PEACOCKE M AHMAD M OTT J CHRISTIANO AM
Citation: W. Ahmad et al., ALOPECIA UNIVERSALIS ASSOCIATED WITH A MUTATION IN THE HUMAN HAIRLESSGENE, Science, 279(5351), 1998, pp. 720-724
MOLECULAR ANALYSIS OF THE HUMAN LAMININ ALPHA-3A CHAIN GENE (LAMA3A) - A STRATEGY FOR MUTATION IDENTIFICATION AND DNA-BASED PRENATAL-DIAGNOSIS IN HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: PULKKINEN L CSERHALMIFRIEDMAN PB TANG M RYAN MC UITTO J CHRISTIANO AM
Citation: L. Pulkkinen et al., MOLECULAR ANALYSIS OF THE HUMAN LAMININ ALPHA-3A CHAIN GENE (LAMA3A) - A STRATEGY FOR MUTATION IDENTIFICATION AND DNA-BASED PRENATAL-DIAGNOSIS IN HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Laboratory investigation, 78(9), 1998, pp. 1067-1076
MOLECULAR-BASIS OF VARIEGATE PORPHYRIA - A MISSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE
Authors: FRANK J LAM H ZAIDER E POHFITZPATRICK M CHRISTIANO AM
Citation: J. Frank et al., MOLECULAR-BASIS OF VARIEGATE PORPHYRIA - A MISSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE, Journal of Medical Genetics, 35(3), 1998, pp. 244-247
ABNORMAL CORNIFIED CELL-ENVELOPE FORMATION IN MUTILATING PALMOPLANTARKERATODERMA UNRELATED TO EPIDERMAL DIFFERENTIATION COMPLEX
Authors: AKIYAMA M CHRISTIANO AM YONEDA K SHIMIZU H
Citation: M. Akiyama et al., ABNORMAL CORNIFIED CELL-ENVELOPE FORMATION IN MUTILATING PALMOPLANTARKERATODERMA UNRELATED TO EPIDERMAL DIFFERENTIATION COMPLEX, Journal of investigative dermatology, 111(1), 1998, pp. 133-138
VARIEGATE PORPHYRIA - IDENTIFICATION OF A NONSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE
Authors: FRANK J JUGERT FK KALKA K GOERZ G MERK HF CHRISTIANO AM
Citation: J. Frank et al., VARIEGATE PORPHYRIA - IDENTIFICATION OF A NONSENSE MUTATION IN THE PROTOPORPHYRINOGEN OXIDASE GENE, Journal of investigative dermatology, 110(4), 1998, pp. 449-451
HOMOZYGOUS VARIEGATE PORPHYRIA - IDENTIFICATION OF MUTATIONS ON BOTH ALLELES OF THE PROTOPORPHYRINOGEN OXIDASE GENE IN A SEVERELY AFFECTED PROBAND
Authors: FRANK J MCGRATH J LAM H GRAHAM RM HAWK JLM CHRISTIANO AM
Citation: J. Frank et al., HOMOZYGOUS VARIEGATE PORPHYRIA - IDENTIFICATION OF MUTATIONS ON BOTH ALLELES OF THE PROTOPORPHYRINOGEN OXIDASE GENE IN A SEVERELY AFFECTED PROBAND, Journal of investigative dermatology, 110(4), 1998, pp. 452-455
RESTORATION OF OPEN READING FRAME DUE TO SKIPPING OF AN EXON WITH AN INTERNAL DELETION IN THE COL7A1 GENE
Authors: FRANK J CSERHALMIFRIEDMAN PB PALLER AS ROMERO R DIETZ HC CHRISTIANO AM
Citation: J. Frank et al., RESTORATION OF OPEN READING FRAME DUE TO SKIPPING OF AN EXON WITH AN INTERNAL DELETION IN THE COL7A1 GENE, Journal of investigative dermatology, 110(4), 1998, pp. 481-481
PREIMPLANTATION GENETIC DIAGNOSIS IN A FAMILY AT RISK FOR RECURRENCE OF HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: CSERHALMIFRIEDMAN PB TANG YX GRIFO JA CHRISTIANO AM
Citation: Pb. Cserhalmifriedman et al., PREIMPLANTATION GENETIC DIAGNOSIS IN A FAMILY AT RISK FOR RECURRENCE OF HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 110(4), 1998, pp. 485-485
MOLECULAR-BASIS OF ALOPECIA UNIVERSALIS - POSITIONAL-CANDIDATE CLONING OF THE HUMAN HAIRLESS GENE AND IDENTIFICATION OF A MUTATION
Authors: CHRISTIANO AM ULHAQUE MF BRANCOLINI V ULHAQUE S LAM H AITA V FRANK J CSERHALMIFRIEDMAN PB LEASK A MCGRATH JA AHMAD M OTT J AHMAD W
Citation: Am. Christiano et al., MOLECULAR-BASIS OF ALOPECIA UNIVERSALIS - POSITIONAL-CANDIDATE CLONING OF THE HUMAN HAIRLESS GENE AND IDENTIFICATION OF A MUTATION, Journal of investigative dermatology, 110(4), 1998, pp. 500-500
PATHOBIOLOGY OF THE HAIRLESS PHENOTYPE - DYSREGULATION OF HAIR FOLLICLE APOPTOSIS AND TOPOBIOLOGY DURING THE INITIATION OF FOLLICLE CYCLING
Authors: PANTELEYEV AA BOTCHKAREVA NV VANDERVEEN C CHRISTIANO AM PAUS R
Citation: Aa. Panteleyev et al., PATHOBIOLOGY OF THE HAIRLESS PHENOTYPE - DYSREGULATION OF HAIR FOLLICLE APOPTOSIS AND TOPOBIOLOGY DURING THE INITIATION OF FOLLICLE CYCLING, Journal of investigative dermatology, 110(4), 1998, pp. 577-577
A LOCUS FOR AUTOSOMAL RECESSIVE HYPODONTIA MAPS TO CHROMOSOME 16Q12.1
Authors: AHMAD W BRANCOLINI V ULHAQUE MF LAM H ULHAQUE S HAIDER M MAIMON A AITA V AHMAD M OTT J CHRISTIANO AM
Citation: W. Ahmad et al., A LOCUS FOR AUTOSOMAL RECESSIVE HYPODONTIA MAPS TO CHROMOSOME 16Q12.1, Journal of investigative dermatology, 110(4), 1998, pp. 578-578
CONGENITAL ERYTHROPOIETIC PORPHYRIA - C73R IS A HOTSPOT MUTATION IN THE UROPORPHYRINOGEN-III SYNTHASE GENE
Authors: LAM HM FRANK J WANG XH AITA VM JUGERT FK KALKA K GOERZ G MERK HF POHFITZPATRICK B CHRISTIANO AM
Citation: Hm. Lam et al., CONGENITAL ERYTHROPOIETIC PORPHYRIA - C73R IS A HOTSPOT MUTATION IN THE UROPORPHYRINOGEN-III SYNTHASE GENE, Journal of investigative dermatology, 110(4), 1998, pp. 615-615
ABNORMAL CORNIFIED CELL-ENVELOPE FORMATION IN MUTILATING PALMOPLANTARKERATODERMA UNRELATED TO EPIDERMAL DIFFERENTIATION COMPLEX
Authors: AKIYAMA M CHRISTIANO AM YONEDA K SHIMIZU H
Citation: M. Akiyama et al., ABNORMAL CORNIFIED CELL-ENVELOPE FORMATION IN MUTILATING PALMOPLANTARKERATODERMA UNRELATED TO EPIDERMAL DIFFERENTIATION COMPLEX, Journal of investigative dermatology, 110(4), 1998, pp. 619-619
VARIEGATE PORPHYRIA - IDENTIFICATION OF 10 NOVEL MUTATIONS IN THE PROTOPORPHYRINOGEN OXIDASE GENE
Authors: MERK HF FRANK J JUGERT FK KALKA K GOERZ G POHFITZPATRICK MB CHRISTIANO AM
Citation: Hf. Merk et al., VARIEGATE PORPHYRIA - IDENTIFICATION OF 10 NOVEL MUTATIONS IN THE PROTOPORPHYRINOGEN OXIDASE GENE, Journal of investigative dermatology, 110(4), 1998, pp. 697-697
MOLECULAR HETEROGENEITY IN ERYTHROPOIETIC PROTOPORPHYRIA - 10 MUTATIONS IN THE FERROCHELATASE GENE
Authors: JUGERT FK FRANK J NELSON J WANG XH KALKA K GOERZ G MERK HF POHFITZPATRICK MB CHRISTIANO AM
Citation: Fk. Jugert et al., MOLECULAR HETEROGENEITY IN ERYTHROPOIETIC PROTOPORPHYRIA - 10 MUTATIONS IN THE FERROCHELATASE GENE, Journal of investigative dermatology, 110(4), 1998, pp. 698-698
C73R IS A HOTSPOT MUTATION IN THE UROPORPHYRINOGEN III SYNTHASE GENE IN CONGENITAL ERYTHROPOIETIC PORPHYRIA
Authors: FRANK J WANG X LAM HM AITA VM JUGERT FK GOERZ G MERK HF POHFITZPATRICK MB CHRISTIANO AM
Citation: J. Frank et al., C73R IS A HOTSPOT MUTATION IN THE UROPORPHYRINOGEN III SYNTHASE GENE IN CONGENITAL ERYTHROPOIETIC PORPHYRIA, Annals of Human Genetics, 62, 1998, pp. 225-230
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