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    1. Corden, LD; McLean, WHI
      Keratins and keratin disorders

      CELL ADHESION AND MIGRATION IN SKIN DISEASE
    2. Bleck, O; Ashton, GHS; Mallipeddi, R; South, AP; Whittock, NV; McLean, WHI; Atherton, DJ; McGrath, JA
      Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in differentclinical variants of acrodermatitis enteropathica

      ARCHIVES OF DERMATOLOGICAL RESEARCH
    3. Smith, FJD; Coleman, CM; Bayoumy, NM; Tenconi, R; Nelson, J; David, A; McLean, WHI
      Novel keratin 17 mutations in pachyonychia congenita type 2

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    4. Terrinoni, A; Rugg, EL; Lane, EB; Melino, G; Felix, DH; Munro, CS; McLean, WHI
      A novel mutation in the keratin 13 gene causing oral white sponge nevus

      JOURNAL OF DENTAL RESEARCH
    5. Porter, RM; Corden, LD; Lunny, DP; Smith, FJD; Lane, EB; McLean, WHI
      Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans

      BRITISH JOURNAL OF DERMATOLOGY
    6. Connors, JB; Rahil, AK; Smith, FJD; McLean, WHI; Milstone, LM
      Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16

      BRITISH JOURNAL OF DERMATOLOGY
    7. Whittock, NV; McLean, WHI
      Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    8. Smith, FJD; Fisher, MP; Healy, E; Rees, JL; Bonifas, JM; Epstein, EH; Tan, EML; Uitto, J; McLean, WHI
      Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

      EXPERIMENTAL DERMATOLOGY
    9. Irvine, AD; Smith, FJD; Shum, KW; Williams, HC; McLean, WHI
      A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosaof Siemens

      CLINICAL AND EXPERIMENTAL DERMATOLOGY
    10. Porter, RM; Lunny, DP; Ogden, PH; Morley, SM; McLean, WHI; Evans, A; Harrison, DL; Rugg, EL; Lane, EB
      K15 expression implies lateral differentiation within stratified epithelial basal cells

      LABORATORY INVESTIGATION
    11. Terrinoni, A; Puddu, P; Didona, B; De Laurenzi, V; Candi, E; Smith, FJD; McLean, WHI; Melino, G
      A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    12. Corden, LD; Swensson, O; Swensson, B; Smith, FJD; Rochels, R; Uitto, J; McLean, WHI
      Molecular genetics of Meesmann's corneal dystrophy: Ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene

      EXPERIMENTAL EYE RESEARCH
    13. Corden, LD; Swensson, O; Swensson, B; Rochels, R; Wannke, B; Thiel, HJ; McLean, WHI
      A novel keratin 12 mutation in a German kindred wi th Meesmann's corneal dystrophy

      BRITISH JOURNAL OF OPHTHALMOLOGY
    14. Carter, JM; McLean, WHI; West, S; Quinlan, RA
      Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    15. Green, KJ; Guy, SG; Cserhalmi-Friedman, PB; McLean, WHI; Christiano, AM; Wagner, RM
      Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers

      EXPERIMENTAL DERMATOLOGY
    16. Smith, FJD; McKenna, KE; Irvine, AD; Bingham, EA; Coleman, CM; Uitto, J; McLean, WHI
      A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1

      EXPERIMENTAL DERMATOLOGY
    17. McLean, WHI; Morley, SM; Higgins, C; Bowden, PE; White, M; Leigh, IM; Lane, EB
      Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma

      EXPERIMENTAL DERMATOLOGY
    18. Aho, S; Rothenberger, K; Tan, EML; Ryoo, YW; Cho, BH; McLean, WHI; Uitto, J
      Human periplakin: Genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements

      GENOMICS
    19. Smith, FJD; McKusick, VA; Nielsen, K; Pfendner, E; Uitto, J; McLean, WHI
      Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

      PRENATAL DIAGNOSIS
    20. Irvine, AD; Mclean, WHI
      Human keratin diseases: the increasing spectrum of disease and subtlety ofthe phenotype-genotype correlation

      BRITISH JOURNAL OF DERMATOLOGY
    21. Smith, LT; Underwood, RA; McLean, WHI
      Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development

      BRITISH JOURNAL OF DERMATOLOGY
    22. Basarab, T; Smith, FJD; Jolliffe, VML; McLean, WHI; Neill, S; Rustin, MHA; Eady, RAJ
      Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

      BRITISH JOURNAL OF DERMATOLOGY
    23. Coleman, CM; Munro, CS; Smith, FJD; Uitto, J; McLean, WHI
      Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif

      BRITISH JOURNAL OF DERMATOLOGY
    24. Coleman, CM; Hannush, S; Covello, SP; Smith, FJD; Uitto, J; McLean, WHI
      A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy

      AMERICAN JOURNAL OF OPHTHALMOLOGY
    25. van Steensel, M; Smith, FJD; Steijlen, PM; Kluijt, I; Stevens, HP; Messenger, A; Kremer, H; Dunnill, MGS; Kennedy, C; Munro, CS; Doherty, VR; McGrath, JA; Covello, SP; Coleman, CM; Uitto, J; McLean, WHI
      The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing

      AMERICAN JOURNAL OF HUMAN GENETICS
    26. Sybert, VP; Francis, JS; Corden, LD; Smith, LT; Weaver, M; Stephens, K; McLean, WHI
      Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferredby mutations in the 2B domain of keratin K1

      AMERICAN JOURNAL OF HUMAN GENETICS
    27. CORDEN LD; MELLERIO JE; GRATIAN MJ; EADY RAJ; HARPER JI; LACOUR M; MAGEE G; LANE EB; MCGRATH JA; MCLEAN WHI
      HOMOZYGOUS NONSENSE MUTATION IN HELIX-2 OF K14 CAUSES SEVERE RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX

      Human mutation
    28. SMITH FJD; JONKMAN MF; VANGOOR H; COLEMAN CM; COVELLO SP; UITTO J; MCLEAN WHI
      A MUTATION IN HUMAN KERATIN K6B PRODUCES A PHENOCOPY OF THE K17 DISORDER PACHYONYCHIA-CONGENITA TYPE-2

      Human molecular genetics (Print)
    29. AHO S; MCLEAN WHI; LI KH; UITTO J
      CDNA CLONING, MESSENGER-RNA EXPRESSION, AND CHROMOSOMAL MAPPING OF HUMAN AND MOUSE PERIPLAKIN GENES (VOL 48, PG 242, 1998)

      Genomics (San Diego, Calif.)
    30. AHO S; MCLEAN WHI; LI KH; UITTO J
      CDNA CLONING, MESSENGER-RNA EXPRESSION, AND CHROMOSOMAL MAPPING OF HUMAN AND MOUSE PERIPLAKIN GENES

      Genomics
    31. DANG M; PULKKINEN L; SMITH FJD; MCLEAN WHI; UITTO J
      NOVEL COMPOUND HETEROZYGOUS MUTATIONS IN THE PLECTIN GENE IN EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY AND THE USE OF PROTEIN TRUNCATION TEST FOR DETECTION OF PREMATURE TERMINATION CODON MUTATIONS

      Laboratory investigation
    32. SMITH FJD; MAINGI C; COVELLO SP; HIGGINS C; SCHMIDT M; LANE EB; UITTO J; LEIGH IM; MCLEAN WHI
      GENOMIC ORGANIZATION AND FINE MAPPING OF THE KERATIN 2E GENE (KRT2E) - K2E V1 DOMAIN POLYMORPHISM AND NOVEL MUTATIONS IN ICHTHYOSIS BULLOSAOF SIEMENS

      Journal of investigative dermatology
    33. AHO S; MCLEAN WHI; MAHONEY M; STANLEY JR; UITTO J
      HUMAN PERIPLAKIN - CDNA AND GENOMIC CLONING, CHROMOSOMAL MAPPING, MESSENGER-RNA EXPRESSION, AND A PARANEOPLASTIC ANTIGEN

      Journal of investigative dermatology
    34. SMITH FJD; STEIJLEN PM; MCKENNA K; HEALY E; REES JL; FISHER MP; BONIFAS JM; EPSTEIN EH; MCKUSICK VA; TAN E; UITTO J; MCLEAN WHI
      CLONING OF MULTIPLE K16 GENES AND GENOTYPE-PHENOTYPE CORRELATION IN PACHYONYCHIA-CONGENITA TYPE-I AND FOCAL PPK

      Journal of investigative dermatology
    35. MCLEAN WHI; SMITH FJD; VANGOOR H; COVELLO SP; COLEMAN CS; UITTO J; JONKMAN MF
      A NEW GENE FOR PACHYONYCHIA-CONGENITA TYPE-2 - KERATIN K6B IS THE EXPRESSION PARTNER OF K17 IN EPIDERMAL APPENDAGES

      Journal of investigative dermatology
    36. COVELLO SP; SMITH FJD; COLEMAN CS; SMITT JHS; PALLER AS; TENCONI R; MUNRO CS; UITTO J; MCLEAN WHI
      KERATIN-17 MUTATIONS CAUSE EITHER STEATOCYSTOMA MULTIPLEX OR PACHYONYCHIA-CONGENITA TYPE-2

      Journal of investigative dermatology
    37. IRVINE AD; COVELLO SP; MCKENNA KE; COLEMAN CS; MUNRO CS; UITTO J; MCLEAN WHI
      POPULATION PREVALENCE AND MUTATION DETECTION IN EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

      Journal of investigative dermatology
    38. RINGPFEIL F; PULKKINEN L; MCLEAN WHI; UITTO J
      FINE-RESOLUTION CHROMOSOMAL MAPPING OF ELASTIC FIBER SYSTEM ASSOCIATED GENES

      Journal of investigative dermatology
    39. Covello, SP; Irvine, AD; McKenna, KE; Munro, CS; Nevin, NC; Smith, FJD; Uitto, J; McLean, WHI
      Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    40. Kremer, H; Lavrijsen, APM; McLean, WHI; Lane, EB; Melchers, D; Ruiter, DJ; Mariman, ECM; Steijlen, PM
      An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    41. SWENSSON O; LANGBEIN L; MCMILLAN JR; STEVENS HP; LEIGH IM; MCLEAN WHI; LANE EB; EADY RAJ
      SPECIALIZED KERATIN EXPRESSION PATTERN IN HUMAN RIDGED SKIN AS AN ADAPTATION TO HIGH PHYSICAL STRESS

      British journal of dermatology
    42. COVELLO SP; SMITH FJD; SMITT JHS; PALLER AS; MUNRO CS; JONKMAN MF; UITTO J; MCLEAN WHI
      KERATIN-17 MUTATIONS CAUSE EITHER STEATOCYSTOMA MULTIPLEX OR PACHYONYCHIA-CONGENITA TYPE-2

      British journal of dermatology
    43. UITTO J; PULKKINEN L; MCLEAN WHI
      EPIDERMOLYSIS-BULLOSA - A SPECTRUM OF CLINICAL PHENOTYPES EXPLAINED BY MOLECULAR HETEROGENEITY

      Molecular medicine today
    44. IRVINE AD; CORDEN LD; SWENSSON O; SWENSSON B; MOORE JE; FRAZER DG; SMITH FJD; KNOWLTON RG; CHRISTOPHERS E; ROCHELS R; UITTO J; MCLEAN WHI
      MUTATIONS IN CORNEA-SPECIFIC KERATIN K3 OR K12 GENES CAUSE MEESMANNS CORNEAL-DYSTROPHY

      Nature genetics
    45. PULKKINEN L; KIMONIS VE; XU YL; SPANOU EN; MCLEAN WHI; UITTO J
      HOMOZYGOUS ALPHA-6 INTEGRIN MUTATION IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH CONGENITAL DUODENAL ATRESIA

      Human molecular genetics
    46. DANG M; PULKKINEN L; SMITH FJD; MCLEAN WHI; UITTO J
      NOVEL COMPOUND HETEROZYGOUS MUTATIONS IN THE PLECTIN GENE IN EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY (EB-MD), AND DEVELOPMENT OF PROTEIN TRUNCATION TEST FOR DETECTION OF PREMATURE TERMINATION CODON MUTATIONS

      Journal of investigative dermatology
    47. MELLERIO JE; SMITH FJD; MCLEAN WHI; MCGRATH JA; MORRISON GAJ; TIERNEY P; ALBERT DM; PULKKINEN L; MCMILLAN JR; LANE EB; LEIGH IM; GEDDES JF; UITLO J; EADY RAJ
      RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX WITH RESPIRATORY COMPLICATIONS CAUSED BY MUTATIONS IN THE PLECTIN GENE

      Journal of investigative dermatology
    48. RINGPFEIL F; MCLEAN WHI; SMITH FJD; PULKKINEN L; UITTO J
      GENOMIC ORGANIZATION AND HIGH-RESOLUTION PHYSICAL MAPPING OF 3 GENES ENCODING MICROFIBRIL ASSOCIATED PROTEINS (MFAP1-3)

      Journal of investigative dermatology
    49. MCLEAN WHI; SMITH FJD; COVELLO S; PULKKINEN L; UITTO J
      HIGH-RESOLUTION RADIATION HYBRID MAPPING OF THE HUMAN GENES ENCODING THE 5 MAJOR HEMIDESMOSOMAL STRUCTURAL PROTEINS

      Journal of investigative dermatology
    50. CORDEN LD; MELLERIO JE; GRATIAN MJ; EADY RAJ; HARPER JI; LACOUR M; MAGEE G; LANE EB; MCLEAN WHI; MCGRATH JA
      HOMOZYGOUS NONSENSE MUTATION IN THE HELIX-2 DOMAIN OF K14 CAUSES RECESSIVE EBS

      Journal of investigative dermatology
    51. SMITH FJD; CORDEN LD; RUGG EL; RATNAVEL R; LEIGH IM; MOSS C; TIDMAN MJ; HOHL D; HUBER M; KUNKELER L; MUNRO CS; LANE EB; MCLEAN WHI
      MISSENSE MUTATIONS IN KERATIN-17 CAUSE EITHER PACHYONYCHIA-CONGENITA TYPE-2 OR A PHENOTYPE RESEMBLING STEATOCYSTOMA MULTIPLEX

      Journal of investigative dermatology
    52. MELLERIO JE; SMITH FJD; MCMILLAN JR; MCLEAN WHI; MCGRATH JA; MORRISON GAJ; TIERNEY P; ALBERT DM; WICHE G; LEIGH IM; GEDDES JF; LANE EB; UITTO J; EADY RAJ
      RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX ASSOCIATED WITH PLECTIN MUTATIONS - INFANTILE RESPIRATORY COMPLICATIONS IN 2 UNRELATED CASES

      British journal of dermatology
    53. MCLEAN WHI; CORDEN LD; IRVINE AD; MOORE JE; FRAZER DG; SWENSSON O; SWENSSON B; SMITH FJD; KNOWLTON RG; CHRISTOPHERS E; ROCHELS R; UITTO J
      MEESMANNS-CORNEAL-DYSTROPHY IS CAUSED BY MUTATIONS IN CORNEA-SPECIFICKERATINS

      American journal of human genetics
    54. AHO S; MCLEAN WHI; LI K; UITTO J
      CDNA CLONING, MESSENGER-RNA EXPRESSION, AND CHROMOSOMAL MAPPING OF HUMAN AND MOUSE PERIPLAKIN, A NOVEL MEMBER OF THE PLAKIN FAMILY OF CELL JUNCTION PROTEINS

      American journal of human genetics
    55. RINGPFEIL F; PULKKINEN L; MCLEAN WHI; UITTO J
      PSEUDOXANTHOMA ELASTICUM - FINE RESOLUTION MAPPING OF 3 CANDIDATE GENES (LOX, FBN2, AND MFAP3) ON CHROMOSOME 5Q, AND EXCLUSION IN 4 AUTOSOMAL-DOMINANT FAMILIES

      American journal of human genetics
    56. SMITH FJD; FISHER MP; HEALY E; REES JL; MCKUSICK VA; BONIFAS JM; EPSTEIN EH; UITTO J; MCLEAN WHI
      MISSENSE OR IN-FRAME DELETION MUTATIONS IN HUMAN KERATIN-16 CAN CAUSEVARIABLE PHENOTYPES OF PACHYONYCHIA AND OR PALMOPLANTAR KERATODERMA/

      American journal of human genetics
    57. SMITH FJD; EADY RAJ; LEIGH IM; MCMILLAN JR; RUGG EL; KELSELL DP; BRYANT SP; SPURR NK; GEDDES JF; KIRTSCHIG G; MILANA G; DEBONO AG; OWARIBE K; WICHE G; PULKKINEN L; UITTO J; MCLEAN WHI; LANE EB
      PLECTIN DEFICIENCY RESULTS IN MUSCULAR-DYSTROPHY WITH EPIDERMOLYSIS-BULLOSA

      Nature genetics
    58. PULKKINEN L; SMITH FJD; SHIMIZU H; MURATA S; YAOITA H; HACHISUKA H; NISHIKAWA T; MCLEAN WHI; UITTO J
      HOMOZYGOUS DELETION MUTATIONS IN THE PLECTIN GENE (PLEC1) IN PATIENTSWITH EPIDERMOLYSIS-BULLOSA SIMPLEX ASSOCIATED WITH LATE-ONSET MUSCULAR-DYSTROPHY

      Human molecular genetics
    59. MCLEAN WHI; PULKKINEN L; SMITH FJD; RUGG EL; LANE EB; BULLRICH F; BURGESON RE; AMANO S; HUDSON DL; OWARIBE K; MCGRATH JA; MCMILLAN JR; EADY RAJ; LEIGH IM; CHRISTIANO AM; UITTO J
      LOSS OF PLECTIN CAUSES EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY - CDNA CLONING AND GENOMIC ORGANIZATION

      Genes & development
    60. JONKMAN MF; SMITH FJD; MCLEAN WHI; SCHEFFER H
      ANALYSIS OF THE CLINICAL AND CELLULAR PHENOTYPE RESULTING FROM ABLATION OF KERATIN-14 IN RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX

      Journal of investigative dermatology
    61. MCLEAN WHI; SMITH FJD; RUGG EL; PULKKINEN L; LEIGH IM; EADY RAJ; UITTO J; LANE EB
      CLONING AND SEQUENCING OF THE HUMAN PLECTIN GENE

      Journal of investigative dermatology
    62. MCLEAN WHI; RUGG EL; SMITH FJD; MORLEY SM; SHEMANKO CC; CORDEN LD; MUNRO CS; LEIGH IM; EADY RAJ; LANE EB
      EB SIMPLEX AND THE GROWING FAMILY OF KERATIN DISEASES

      Journal of investigative dermatology
    63. SMITH FJD; PULKKINEN L; RUGTG EL; LANE EB; EADY RAJ; LEIGH IM; CHRISTIANO AM; MCLEAN WHI; UITTO J
      HOMOZYGOUS FRAMESHIFT MUTATIONS IN THE PLECTIN GENE CAUSE EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY

      Journal of investigative dermatology
    64. PULKKINEN L; SMITH FJ; MCLEAN WHI; MURATA S; YAOITA H; SHIMIZU H; NISHIKAWA T; UITTO J
      HOMOZYGOUS DELETION MUTATIONS IN THE PLECTIN GENE IN EPIDERMOLYSIS-BULLOSA (EB) ASSOCIATED WITH LATE-ONSET MUSCULAR-DYSTROPHY

      Journal of investigative dermatology
    65. JONKMAN MF; HEERES K; PAS HH; VANLUYN MJ; ELEMA JD; CORDEN LD; SMITH FJD; MCLEAN WHI; RAMAEKERS FCS; BURTON M; SCHEFFER H
      EFFECTS OF KERATIN-14 ABLATION ON THE CLINICAL AND CELLULAR PHENOTYPEIN A KINDRED WITH RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX

      Journal of investigative dermatology
    66. MCLEAN WHI; SMITH FJD; RUGG EL; PULKKINEN L; BULLRICH F; LEIGH IM; EADY RAJ; LANE EB; UITTO J
      COMPLETE CDNA SEQUENCE, GENOMIC ORGANIZATION AND CHROMOSOMAL LOCALIZATION OF THE HUMAN PLECTIN GENE

      Journal of investigative dermatology
    67. PITERA R; PITERA JE; SWENSSON O; MCLEAN WHI; RUGG EL; LANE EB; LEIGH JM; MCMILLAN JR; CHURCHILL LJ; LANGBEIN L; EADY RAJ
      KERATIN MESSENGER-RNA AND PROTEIN EXPRESSION PATTERNS DEMONSTRATE KERATINOCYTE DIVERSITY IN NORMAL EPIDERMIS OF PALMS AND SOLES

      Journal of investigative dermatology
    68. PULKKINEN L; SMITH FJD; MCLEAN WHI; LANE EB; LEIGH IM; EADY RAJ; MCGRATH J; CHRISTIANO AM; MURATA S; YAOITA H; HATCHISUKA H; SHIMIZU H; NISHIKAWA T; UITTO J
      PLECTIN MUTATIONS UNDERLIE EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY

      Journal of investigative dermatology
    69. MCMILLAN JR; GEDDES JF; MCLEAN WHI; LANE EB; LEIGH IM; EADY RAJ
      MORPHOLOGICAL-CHANGES IN SKIN AND SKELETAL-MUSCLE ASSOCIATED WITH PLECTIN HD1 DEFICIENCY IN EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY/

      Journal of investigative dermatology
    70. SMITH FJD; MCLEAN WHI; RUGG EL; LEIGH IM; EADY RAJ; UITTO J; LANE EB
      CLONING OF THE MURINE PLECTIN CDNA REVEALS HIGH EVOLUTIONARY CONSERVATION OF THIS CYTOSKELETAL-ASSOCIATED PROTEIN

      Journal of investigative dermatology
    71. MCLEAN WHI; PULKKINEN L; SMITH FJD; RUGG EL; BULLRICH F; BURGESON RE; AMANO S; HUDSON DL; OWARIBE K; MCGRATH JA; EADY RAJ; LEIGH IM; LANE EB; CHRISTIANO AM; UITTO J
      MUTATIONS IN THE PLECTIN GENE CAUSE EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY

      Journal of investigative dermatology
    72. RUGG EL; MCLEAN WHI; PRESCOTT AR; RATNAVEL R; LEIGH IM; MUNRO CS; LANE EB
      THE EFFECT OF A MUTATION IN K16 ON KERATIN FILAMENT DYNAMICS IN-VITRO

      Journal of investigative dermatology
    73. EADY RAJ; LEIGH IM; MCMILLAN JR; GEDDES JF; KIRTSCHIG G; KELSELL DP; SPURR NK; MCLEAN WHI; OWARIBE K; WICHE G; LANE EB
      EPIDERMOLYSIS-BULLOSA SIMPLEX WITH MUSCULAR-DYSTROPHY - LOSS OF PLECTIN EXPRESSION IN SKIN AND MUSCLE

      Journal of investigative dermatology
    74. MCLEAN WHI; SMITH FJD; RUGG EL; STOREY A; LEIGH IM; EADY RAJ; PULKKINEN L; UITTO J; LANE EB
      CLONING AND SEQUENCING OF THE HUMAN PLECTIN GENE

      Journal of investigative dermatology
    75. SMITH FJD; CORDEN LD; RUGG EL; MORLEY SM; LANE EB; HUBER M; HOHL D; MUNRO CS; MCLEAN WHI
      MUTATIONS IN KERATIN-17 CAUSE STEATOCYSTOMA MULTIPLEX

      Journal of investigative dermatology
    76. SMITH LT; UNDERWOOD RA; MCLEAN WHI
      ONTOGENY AND REGIONAL VARIABILITY OF KERATIN 2E IN DEVELOPING HUMAN FETAL SKIN

      Journal of investigative dermatology
    77. CHAVANAS S; PULKKINEN L; GACHE Y; SMITH FJD; MCLEAN WHI; UITTO J; ORTONNE JP; MENEGUZZI G
      A HOMOZYGOUS NONSENSE MUTATION IN THE PLEC1 GENE IN PATIENTS WITH EPIDERMOLYSIS-BULLOSA SIMPLEX WITH MUSCULAR-DYSTROPHY

      The Journal of clinical investigation
    78. MCLEAN WHI; RUGG EL; LUNNY DP; MORLEY SM; LANE EB; SWENSSON O; DOPPINGHEPENSTAL PJC; GRIFFITHS WAD; EADY RAJ; HIGGINS C; NAVSARIA HA; LEIGH IM; STRACHAN T; KUNKELER L; MUNRO CS
      KERATIN-16 AND KERATIN-17 MUTATIONS CAUSE PACHYONYCHIA-CONGENITA

      Nature genetics
    79. RUGG EL; MCLEAN WHI; ALLISON WE; LUNNY DP; MACLEOD RI; FELIX DH; LANE EB; MUNRO CS
      A MUTATION IN THE MUCOSAL KERATIN K4 IS ASSOCIATED WITH ORAL WHITE SPONGE NEVUS

      Nature genetics
    80. HEALY E; HOLMES SC; BELGAID CE; STEPHENSON AM; MCLEAN WHI; REES JL; MUNRO CS
      A GENE FOR MONILETHRIX IS CLOSELY LINKED TO THE TYPE-II KERATIN GENE-CLUSTER AT 12Q13

      Human molecular genetics
    81. SHAMSHER MK; NAVSARIA HA; STEVENS HP; RATNAVEL RC; PURKIS PE; KELSELL DP; MCLEAN WHI; COOK LJ; GRIFFITHS WAD; GSCHMEISSNER S; SPURR N; LEIGH IM
      NOVEL MUTATIONS IN KERATIN-16 GENE UNDERLY FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA (NEPPK) IN 2 FAMILIES

      Human molecular genetics
    82. MCLEAN WHI; LANE EB
      INTERMEDIATE FILAMENTS IN DISEASE

      Current opinion in cell biology
    83. CARTER JM; DUFF SV; MCLEAN WHI; PRESCOTT AR; WALLACE PS; QUINLIN RA
      CLASSIFICATION OF CP49 AND FILENSIN - 2 LENS SPECIFIC INTERMEDIATE FILAMENT PROTEINS

      Vision research
    84. MCLEAN WHI; SMITH FJD; CORDEN L; RUGG EL; LUNNY DP; MORLEY SM; SWENSSON O; DOPPINGHEPENSTAL PJC; GRIFFITHS WAD; EADY RAJ; RATNAVEL R; HIGGINS C; NAVSARIA H; LEIGH IM; MOSS C; MCKENNA KE; BINGHAM EA; KUNKELER L; MUNRO CS; LANE EB
      PACHYONYCHIA-CONGENITA IS CAUSED BY MUTATIONS IN KERATIN-16 AND KERATIN-17

      Journal of investigative dermatology
    85. RUGG EL; MCLEAN WHI; MACLEOD RI; FELIX DH; TIDMAN MJ; LANE EB; MUNRO CS
      WHITE SPONGE NEVUS - A DISORDER OF MUCOSAL KERATINS

      Journal of investigative dermatology
    86. LEIGH M; SHAMSHER M; STEVENS HP; RATNAVEL R; PURKIS PE; GRIFFITHS WAD; MCLEAN WHI
      IDENTIFICATION OF NOVEL MUTATIONS IN KERATIN-16 GENE IN 2-FAMILIES WITH FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA (NEPPK)

      Journal of investigative dermatology
    87. SWENSSON O; MUNRO CS; MCLEAN WHI; GRIFFITHS WAD; LANGBEIN L; LEIGH IM; LANE EB; EADY RAJ
      PACHYONYCHIA-CONGENITA - EVIDENCE FOR KERATIN FILAMENT ABNORMALITIES AFFECTING DIFFERENT EPIDERMAL STRUCTURES

      Journal of investigative dermatology
    88. MCLEAN WHI; RUGG EL; LUNNY DP; MORLEY SM; LANE EB; SWENSSON O; DOPPINGHEPENSTAL PJC
      MOLECULAR-BASIS OF PACHYONYCHIA-CONGENITA - MUTATIONS IN KERATIN-16 AND KERATIN-17

      Journal of investigative dermatology
    89. PITERA R; PITERA JE; EADY RAJ; MCLEAN WHI; SCHMIDT M; LANE EB; HIGGINS C; LEIGH IM
      NOVEL KERATIN MUTATIONS CAUSING ICHTHYOSIS BULLOSA OF SIEMENS - PHENOTYPIC VARIATION AND K2E EXPRESSION PATTERNS

      Journal of investigative dermatology
    90. NAVSARIA HA; SWENSSON O; RATNAVEL RC; SHAMSHER M; MCLEAN WHI; LANE EB; GRIFFITHS WAD; EADY RAJ; LEIGH IM
      ULTRASTRUCTURAL-CHANGES RESULTING FROM KERATIN-9 GENE-MUTATIONS IN 2 FAMILIES WITH EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

      Journal of investigative dermatology
    91. RUGG EL; MCLEAN WHI; ALLISON WE; LUNNY DP; LANE EB; MACLEOD RI; FELIX DH; MUNRO CS
      WHITE SPONGE NEVUS (WSN) IS CAUSED BY MUTATIONS IN MUCOSAL KERATIN K4

      American journal of human genetics
    92. MCLEAN WHI; SMITH FJD; CORDEN L; RUGG EL; EADY RAJ; LEIGH IM; MOSS C; MCKENNA DI; BINGHAM EA; KUNKELER L; MUNRO CS; LANE EB
      PACHYONYCHIA-CONGENITA IS CAUSED BY MUTATIONS IN KERATINS K16 AND K17

      American journal of human genetics
    93. MCLEAN WHI; SULTAN N; PARFITT E; LANE EB
      POLYMORPHISMS IN THE KERATIN-8 GENE DETECTED BY PCR

      Human molecular genetics
    94. PARFITT E; BURGE S; CRADDOCK N; ROBERTS E; MCLEAN WHI; WEISSENBACH J; MCGUFFIN P; OWEN M
      THE GENE FOR DARIERS-DISEASE MAPS BETWEEN D12S78 AND D12S79

      Human molecular genetics
    95. RUGG EL; MCLEAN WHI; LANE EB; PITERA R; MCMILLAN JR; DOPPINGHEPENSTAL PJC; NAVSARIA HA; LEIGH IM; EADY RAJ
      A FUNCTIONAL KNOCKOUT OF HUMAN KERATIN-14

      Genes & development
    96. MCLEAN WHI; MORLEY SM; LANE EB; EADY RAJ; GRIFFITHS WAD; PAIGE DG; HARPER JI; HIGGINS C; LEIGH IM
      ICHTHYOSIS BULLOSA OF SIEMENS - A DISEASE INVOLVING KERATIN 2E

      Journal of investigative dermatology
    97. KREMER H; ZEEUWEN P; MCLEAN WHI; MARIMAN ECM; LANE EB; VANDEKERKHOF PCM; ROPERS HH; STEIJLEN PM
      ICHTHYOSIS BULLOSA OF SIEMENS IS CAUSED BY MUTATIONS IN THE KERATIN 2E GENE

      Journal of investigative dermatology
    98. KREMER H; ZEEUWEN P; MCLEAN WHI; MARIMAN ECM; LANE EB; VANDEKERKHOF PCM; ROPERS HH; STEIJLEN PM
      ICHTHYOSIS BULLOSA OF SIEMENS IS CAUSED BY MUTATIONS IN THE KERATIN 2E GENE

      Journal of investigative dermatology
    99. RUGG EL; MCLEAN WHI; PITERA R; MCMILLAN JR; DOPPINGHEPENSTAL PJC; NAVSARIA HA; LEIGH IM; LANE EB; EADY RAJ
      RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX CAUSED BY A FUNCTIONAL KNOCKOUT OF KERATIN-14

      Journal of investigative dermatology
    100. MCLEAN WHI; MORLEY SM; LANE EB; EADY RAJ; GRIFFITHS WAD; PAIGE DG; HARPER JI; HIGGINS C; LEIGH JM
      ICHTHYOSIS BULLOSA OF SIEMENS (IBS) - A DISEASE INVOLVING KERATIN 2E

      Journal of investigative dermatology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/01/21 alle ore 08:13:30