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Updated guide to information for families with inherited skin disorders
PEDIATRIC DERMATOLOGY
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome
JOURNAL OF MEDICAL GENETICS
Expression of a truncated keratin 5 may contribute to severe palmar-plantar hyperkeratosis in epidermolysis bullosa simplex patients
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Molecular genetics in pediatric dermatology
CURRENT OPINION IN PEDIATRICS
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
HUMAN MOLECULAR GENETICS
Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome - A report of 3 cases and review of the literature
ARCHIVES OF DERMATOLOGY
Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferredby mutations in the 2B domain of keratin K1
AMERICAN JOURNAL OF HUMAN GENETICS
LYMPHEDEMA AS A POSTULATED CAUSE OF CUTIS-VERTICIS-GYRATA IN TURNER-SYNDROME
Pediatric dermatology
A NEW VARIANT OF TRICHOTHIODYSTROPHY WITH RECURRENT INFECTIONS, FAILURE-TO-THRIVE, AND DEATH
Pediatric dermatology
A CASE REVISITED - RECENT PRESENTATION OF INCONTINENTIA PIGMENTI IN ASSOCIATION WITH A PREVIOUSLY REPORTED X-AUTOSOME TRANSLOCATION
American journal of medical genetics
CARDIOVASCULAR MALFORMATIONS AND COMPLICATIONS IN TURNER-SYNDROME
Pediatrics
Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1
AMERICAN JOURNAL OF HUMAN GENETICS
CIMETIDINE THERAPY FOR WARTS IN CHILDREN - REPLY
Journal of the American Academy of Dermatology
PRIMERS FOR EXON-SPECIFIC AMPLIFICATION OF THE KRT5 GENE - IDENTIFICATION OF NOVEL AND RECURRENT MUTATIONS IN EPIDERMOLYSIS-BULLOSA SIMPLEXPATIENTS
Journal of investigative dermatology
DEFECTIVE INTEGRIN ALPHA-6-BETA-4 EXPRESSION IN THE SKIN OF PATIENTS WITH JUNCTIONAL EPIDERMOLYSIS-BULLOSA AND PYLORIC ATRESIA (VOL 107, PG354, 1996)
Journal of investigative dermatology
DEVELOPMENT OF MELANOCYTIC NEVI IN CHILDREN
Archives of dermatology
IS CYPROHEPTADINE EFFECTIVE IN THE TREATMENT OF SUBJECTS WITH EPIDERMOLYSIS-BULLOSA SIMPLEX-DOWLING-MEARA
Archives of dermatology
INCONTINENTIA PIGMENTI
Seminars in cutaneous medicine and surgery
CIMETIDINE THERAPY FOR MULTIPLE VIRAL WARTS IN CHILDREN
Journal of the American Academy of Dermatology
PREVALENCE OF HYPOPIGMENTED MACULES IN A HEALTHY POPULATION
The Journal of pediatrics
CLINICAL SPECTRUM OF EPIDERMOLYSIS-BULLOSA - INSTRUCTIVE EXCEPTIONS
Journal of investigative dermatology
DEFECTIVE INTEGRIN ALPHA-6-BETA-4 EXPRESSION IN THE SKIN OF PATIENTS WITH JUNCTIONAL EPIDERMOLYSIS-BULLOSA AND PYLORIC ATRESIA
Journal of investigative dermatology
SEVERE PALMAR PLANTAR HYPERKERATOSIS IN AN EPIDERMOLYSIS-BULLOSA SIMPLEX PATIENT WITH A NOVEL TRUNCATED
Journal of investigative dermatology
PRENATAL-DIAGNOSIS OF 45,X 46,XX - REPLY
American journal of human genetics
GASTROINTESTINAL COMPLAINTS IN INDIVIDUALS WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA (CHRIST-SIEMENS-TOURAINE SYNDROME)
Pediatric dermatology
TRUE AGONADISM - REPORT OF A CASE ANALYZED WITH Y-SPECIFIC DNA PROBES
American journal of medical genetics
ABSENCE OF EXPRESSION OF THE ALPHA-6-BETA-4 INTEGRIN DEFINES THE PATIENTS WITH JUNCTIONAL EPIDERMOLYSIS BULLOSA-PYLORIC ATRESIA SUBSET
Journal of investigative dermatology
A COMMON KERATIN-5 GENE MUTATION IN EPIDERMOLYSIS-BULLOSA SIMPLEX WEBER-COCKAYNE
Journal of investigative dermatology
PSYCHOSOCIAL AND SEXUAL FUNCTIONING IN WOMEN WITH TURNER SYNDROME
Clinical genetics
PRENATAL-DIAGNOSIS OF 45,X 46,XX MOSAICISM AND 45,X - IMPLICATIONS FOR POSTNATAL OUTCOME/
American journal of human genetics
EPIDERMOLYSIS-BULLOSA SIMPLEX - A KERATIN-5 MUTATION IS A FULLY DOMINANT ALLELE IN EPIDERMAL CYTOSKELETON FUNCTION
American journal of human genetics
OUTCOME OF CPS REFERRAL FOR SEXUAL ABUSE IN CHILDREN WITH CONDYLOMATAACUMINATA
Adolescent and pediatric gynecology
UPDATED GUIDE TO INFORMATION FOR FAMILIES WITH INHERITED SKIN DISORDERS
Pediatric dermatology
HYPOMELANOSIS OF ITO IN A GIRL WITH PLEXUS-PAPILLOMA AND TRANSLOCATION (X17)
Human genetics
IDENTIFICATION OF A COMMON KERATIN-5 MUTATION IN EPIDERMOLYSIS-BULLOSA-SIMPLEX WEBER-COCKAYNE
Journal of investigative dermatology
AN EPIDERMOLYSIS-BULLOSA-SIMPLEX PATIENT WITH A KERATIN-5 HOMOZYGOUS DEFECT
Journal of investigative dermatology
HYPOMELANOSIS OF ITO - A DESCRIPTION, NOT A DIAGNOSIS
Journal of investigative dermatology
UNTITLED
Journal of investigative dermatology
AN EPIDERMOLYSIS-BULLOSA SIMPLEX PATIENT WITH A KERATIN-5 HOMOZYGOUS DEFECT
Journal of investigative dermatology
INCONTINENTIA PIGMENTI NOMENCLATURE
American journal of human genetics
SEVERE SKIN EROSIONS AND SCALP INFECTIONS IN AEC SYNDROME
Pediatric dermatology
PRENATAL DETECTION OF EPIDERMOLYSIS BULLOSA-LETALIS WITH PYLORIC ATRESIA IN A FETUS BY ABNORMAL ULTRASOUND AND ELEVATED ALPHA-FETOPROTEIN
American journal of medical genetics
A KERATIN-14 MUTATIONAL HOT-SPOT FOR EPIDERMOLYSIS-BULLOSA SIMPLEX, DOWLING-MEARA - IMPLICATIONS FOR DIAGNOSIS
Journal of investigative dermatology
PRINCIPLES OF GENETICS IN THE MOLECULAR ERA - A PRIMER FOR DERMATOLOGISTS
Archives of dermatology