PubRank

A M Christiano

Author PubWeight™ 143.31‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Alopecia universalis associated with a mutation in the human hairless gene. Science 1998 2.23
2 Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A 2000 1.97
3 Hair follicle predetermination. J Cell Sci 2001 1.92
4 Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 1995 1.90
5 Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev 1996 1.75
6 Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 1995 1.71
7 Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1995 1.69
8 Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet 1994 1.65
9 Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nat Genet 1994 1.63
10 A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 1994 1.59
11 Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. Am J Med Genet 2001 1.48
12 A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet 1996 1.47
13 The dermal-epidermal junction. Curr Opin Cell Biol 1997 1.39
14 The role of the hairless (hr) gene in the regulation of hair follicle catagen transformation. Am J Pathol 1999 1.38
15 The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am J Hum Genet 1997 1.37
16 Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans. Exp Dermatol 1998 1.33
17 A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. Am J Hum Genet 1998 1.32
18 Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J Clin Invest 1992 1.29
19 Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. J Invest Dermatol 2001 1.27
20 Exposing the human nude phenotype. Nature 1999 1.26
21 Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol 1994 1.25
22 A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nat Genet 1993 1.25
23 The functions of laminins: lessons from in vivo studies. Matrix Biol 1996 1.23
24 Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol 1996 1.19
25 The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. Am J Hum Genet 1997 1.17
26 Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. Genomics 1999 1.17
27 Epitope mapping of type VII collagen. Identification of discrete peptide sequences recognized by sera from patients with acquired epidermolysis bullosa. J Clin Invest 1993 1.16
28 A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clin Exp Dermatol 2002 1.15
29 Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. Am J Hum Genet 1997 1.15
30 Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene. Arch Dermatol Res 1994 1.13
31 Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. Clin Exp Dermatol 2003 1.12
32 Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. Am J Hum Genet 1994 1.10
33 A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet 1995 1.10
34 Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations. Clin Exp Dermatol 2008 1.09
35 Trans-gender induction of hair follicles. Nature 1999 1.06
36 Sequential loss of two neighboring exons of the tropoelastin gene during primate evolution. J Mol Evol 1999 1.03
37 Elevated expression of type VII collagen in the skin of patients with systemic sclerosis. Regulation by transforming growth factor-beta. J Clin Invest 1994 1.03
38 A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1. Am J Hum Genet 1998 1.03
39 Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. Ann Hum Genet 2004 1.03
40 Molecular basis for the rhino (hrrh-8J) phenotype: a nonsense mutation in the mouse hairless gene. Genomics 1998 1.02
41 Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. J Med Genet 2003 1.01
42 Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. Arch Dermatol 1997 1.00
43 Patterns of hairless (hr) gene expression in mouse hair follicle morphogenesis and cycling. Am J Pathol 2000 1.00
44 Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 1996 0.99
45 Molecular biology and pathology of type VII collagen. Exp Dermatol 1992 0.98
46 Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity. J Invest Dermatol 1996 0.98
47 The bulge is the source of cellular renewal in the sebaceous gland of mouse skin. Arch Dermatol Res 2000 0.98
48 A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1996 0.97
49 Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. J Invest Dermatol 1994 0.97
50 Hairless is translocated to the nucleus via a novel bipartite nuclear localization signal and is associated with the nuclear matrix. J Cell Sci 2001 0.96
51 Trans-species hair growth induction by human hair follicle dermal papillae. Exp Dermatol 2001 0.96
52 Molecular basis for the rhino Yurlovo (hr(rhY)) phenotype: severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene. Exp Dermatol 1998 0.96
53 Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa. Exp Dermatol 1999 0.96
54 Type VII collagen gene expression by cultured human cells and in fetal skin. Abundant mRNA and protein levels in epidermal keratinocytes. J Clin Invest 1992 0.96
55 Molecular biology and pathology of human elastin. Biochem Soc Trans 1991 0.95
56 Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. Clin Exp Dermatol 2005 0.95
57 Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene. Hum Genet 1998 0.95
58 The single copy gene coding for human alpha 1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13. Hum Genet 1986 0.94
59 Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome. Cytogenet Genome Res 2004 0.93
60 Differential cytokine modulation of the genes LAMA3, LAMB3, and LAMC2, encoding the constitutive polypeptides, alpha 3, beta 3, and gamma 2, of human laminin 5 in epidermal keratinocytes. FEBS Lett 1995 0.93
61 Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. Genomics 1995 0.93
62 cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid evolutionary divergence of the gene. Genomics 1993 0.92
63 FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. Clin Genet 2008 0.91
64 Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. J Invest Dermatol 2001 0.90
65 Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa. Proc Assoc Am Physicians 1995 0.90
66 Molecular basis of a novel rhino (hr(rhChr)) phenotype: a nonsense mutation in the mouse hairless gene. Exp Dermatol 1998 0.89
67 A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. Genomics 1995 0.89
68 DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence. J Invest Dermatol 1995 0.88
69 Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. J Invest Dermatol 1995 0.88
70 Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene. J Invest Dermatol 1991 0.88
71 Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1997 0.88
72 Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol 1999 0.87
73 Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1997 0.87
74 Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband. J Invest Dermatol 1998 0.87
75 Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa. J Invest Dermatol 1995 0.87
76 Dystrophic forms of epidermolysis bullosa. Semin Dermatol 1993 0.86
77 Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). Hum Mutat 1995 0.86
78 Cloning of mouse type VII collagen reveals evolutionary conservation of functional protein domains and genomic organization. J Invest Dermatol 1996 0.86
79 A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. Hum Mol Genet 1994 0.86
80 Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. Genomics 1995 0.86
81 Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. J Invest Dermatol 1997 0.85
82 Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly. Clin Genet 2009 0.85
83 A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. J Invest Dermatol 1996 0.84
84 Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. Lab Invest 1998 0.84
85 A novel mouse desmosomal cadherin family member, desmoglein 1 gamma. Exp Dermatol 2003 0.83
86 Characterization of the desmosomal cadherin gene family: genomic organization of two desmoglein genes on human chromosome 18q12. Exp Dermatol 2001 0.83
87 Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions. Exp Dermatol 2000 0.83
88 Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait. Clin Genet 2003 0.82
89 C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Ann Hum Genet 1998 0.82
90 Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions. Clin Exp Dermatol 2005 0.82
91 Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene. Clin Exp Dermatol 2003 0.82
92 Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene. Clin Exp Dermatol 2006 0.82
93 Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1996 0.81
94 A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome. J Eur Acad Dermatol Venereol 2010 0.81
95 Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy. Dermatology 2010 0.81
96 A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions. Exp Dermatol 2000 0.81
97 Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol 2005 0.80
98 A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia. J Invest Dermatol 1999 0.80
99 Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene. J Invest Dermatol 1998 0.80
100 Hoxa4 expression in developing mouse hair follicles and skin. Mech Dev 2000 0.80
101 Mapping complex traits in diseases of the hair and skin. Exp Dermatol 1999 0.80
102 A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa. Clin Exp Dermatol 2004 0.80
103 Hair on a gene string: recent advances in understanding the molecular genetics of hair loss. Clin Exp Dermatol 2001 0.80
104 Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene. Hum Genet 1997 0.80
105 The molecular basis of congenital atrichia in humans and mice: mutations in the hairless gene. J Investig Dermatol Symp Proc 1999 0.80
106 Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis. Prenat Diagn 1995 0.80
107 Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa. Lab Invest 1997 0.79
108 Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. Lab Invest 1998 0.79
109 The pro alpha 1 (IV) collagen gene is linked to the D13S3 locus at the distal end of human chromosome 13q. Cytogenet Cell Genet 1987 0.79
110 Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa. J Invest Dermatol 2001 0.79
111 Cloning of the gene for human pemphigus vulgaris antigen (desmoglein 3), a desmosomal cadherin. Characterization of the promoter region and identification of a keratinocyte-specific cis-element. J Biol Chem 1996 0.79
112 Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene. J Invest Dermatol 1997 0.79
113 Acne chlorina and acne vulgaris--casual likeness or casual homology? Arch Dermatol Res 2000 0.78
114 Mammalian tropoelastin: multiple domains of the protein define an evolutionarily divergent amino acid sequence. Matrix 1991 0.78
115 Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa. Mol Med 1997 0.78
116 Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family. J Eur Acad Dermatol Venereol 2009 0.78
117 Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. Exp Dermatol 2000 0.78
118 The genetic bases of the porphyrias. Skin Pharmacol Appl Skin Physiol 1999 0.78
119 Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. Br J Dermatol 2001 0.78
120 Variegate porphyria: past, present and future. Skin Pharmacol Appl Skin Physiol 1999 0.78
121 Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. J Invest Dermatol 1997 0.78
122 Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. J Invest Dermatol 1996 0.78
123 Extensive alternate exon usage at the 5' end of the sheep tropoelastin gene. Matrix Biol 1995 0.78
124 Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria. Am J Med Genet 1998 0.77
125 Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene. Clin Exp Dermatol 2000 0.77
126 Molecular basis of congenital atrichia in humans and mice. Cutis 1999 0.77
127 The molecular genetics of dystrophic epidermolysis bullosa. Arch Dermatol 1993 0.77
128 Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. J Med Genet 1998 0.77
129 Collagen VII in severe recessive dystrophic epidermolysis bullosa: expression of mRNA but lack of intact protein product in skin and cutaneous cells in vitro. J Invest Dermatol 1994 0.77
130 Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies. J Investig Med 1999 0.77
131 Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile. Hum Hered 2001 0.77
132 Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2. Clin Exp Dermatol 2003 0.77
133 The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. Arch Dermatol Res 1998 0.77
134 A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele. Br J Dermatol 1997 0.77
135 Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene. Exp Dermatol 1998 0.77
136 Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis. Exp Dermatol 1999 0.77
137 Structural analysis and mutation detection strategy for the human LAMC3 gene. Biochem Biophys Res Commun 2001 0.77
138 Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family. Prenat Diagn 1995 0.77
139 Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa. Arch Dermatol Res 1997 0.77
140 Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary. Exp Dermatol 1997 0.76
141 Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster. J Clin Invest 1993 0.76
142 The Charles River "hairless" rat mutation is distinct from the hairless mouse alleles. Comp Med 2001 0.76
143 Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. J Eur Acad Dermatol Venereol 2012 0.76
144 Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene. Exp Dermatol 1999 0.76
145 How realistic is cutaneous gene therapy? Exp Dermatol 1999 0.76
146 Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. Clin Exp Dermatol 2010 0.76
147 Bumps and pumps, SERCA 1999. Nat Genet 1999 0.75
148 Settling the score on hairless. J Invest Dermatol 2000 0.75
149 Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene. Clin Exp Dermatol 1999 0.75
150 Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. Clin Genet 2009 0.75
151 Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex. J Invest Dermatol 1998 0.75
152 First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling. Br J Dermatol 1996 0.75
153 Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene. Physiol Res 2006 0.75
154 Complete coding sequence, intron/exon organization, and chromosomal location of the gene for the core I protein of human ubiquinol-cytochrome c reductase. J Biol Chem 1993 0.75
155 A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria. J Invest Dermatol 2001 0.75
156 Structural analysis reflects the evolutionary relationship between the human desmocollin gene family members. Exp Dermatol 2001 0.75
157 Sabinas syndrome in monozygotic twins. Clin Exp Dermatol 2009 0.75
158 Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa. Arch Dermatol Res 1997 0.75
159 Fishing for new genes in skin biology: impact of cytogenetics on gene discovery. Clin Genet 2004 0.75
160 Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene. Clin Exp Dermatol 2000 0.75
161 Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa. Exp Dermatol 1997 0.75
162 A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families. Br J Dermatol 2007 0.75
163 Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. J Invest Dermatol 1998 0.75
164 Stem cells in the epidermis. Skin Pharmacol Appl Skin Physiol 2001 0.75
165 Inherited epidermolysis bullosa. Clinical features, molecular genetics, and pathoetiologic mechanisms. Dermatol Clin 1993 0.75
166 Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers. Exp Dermatol 1999 0.75
167 DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol 2001 0.75
168 Symposium on Epidermolysis Bullosa: Molecular Genetics of the Cutaneous Basement Membrane Zone, Jefferson Medical College, Philadelphia, Pennsylvania, April 29 and 30, 1996. J Invest Dermatol 1996 0.75
169 Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency. Clin Exp Dermatol 2003 0.75
170 Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria. Clin Exp Dermatol 1999 0.75
171 A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma. Br J Dermatol 2006 0.75
172 Novel mutation in the human hairless gene once more erroneously diagnosed and treated as 'alopecia areata'. Br J Dermatol 2008 0.75
173 Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy. Clin Exp Dermatol 2014 0.75
174 Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria. Br J Dermatol 1997 0.75