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Hypohidrotic ectodermal dysplasia: Dental features and carriers detection
COLLEGIUM ANTROPOLOGICUM
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens
BRITISH JOURNAL OF DERMATOLOGY
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression
ACTA DERMATO-VENEREOLOGICA
Squamous cell carcinoma in junctional and dystrophic epidermolysis bullosa
ACTA DERMATO-VENEREOLOGICA
Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens
EXPERIMENTAL DERMATOLOGY
Natural history of residual renal stone fragments after ESWL
EUROPEAN UROLOGY
In vitro comparison of shock wave lithotripsy machines
JOURNAL OF UROLOGY
Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia
ARCHIVES OF DERMATOLOGY
Monilethrix: Mutational hotspot in the helix termination motif of the human hair basic keratin 6
HUMAN HEREDITY
Molecular analysis of an extended Palestinian family from Israel with monilethrix
GENETICS IN MEDICINE
Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts
HUMAN MUTATION
Prenatal diagnosis as a test for genodermatoses: its past, present and future
JOURNAL OF DERMATOLOGICAL SCIENCE
Analgesia in piezoelectric SWL: Comparative study of kidney and upper ureter treatments
JOURNAL OF ENDOUROLOGY
Consecutive experience with four Dornier lithotripters: HM4, MPL 9000, Compact, and U/50
JOURNAL OF ENDOUROLOGY
Treatment for extended-mid and distal ureteral stones: SWL or ureteroscopy? Results of a multicenter study
JOURNAL OF ENDOUROLOGY
Performance and beam characteristics of the Siemens Primus linear accelerator
MEDICAL PHYSICS
Munich as Germany's no. 1 high technology region: Empirical evidence, theoretical explanations and the role of small firm/large firm relationships
REGIONAL STUDIES
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: Implications for protein structure and clinical phenotype
JOURNAL OF INVESTIGATIVE DERMATOLOGY
A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case
JOURNAL OF INVESTIGATIVE DERMATOLOGY
A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens
JOURNAL OF INVESTIGATIVE DERMATOLOGY
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
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
Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferredby mutations in the 2B domain of keratin K1
AMERICAN JOURNAL OF HUMAN GENETICS
THE DORNIER LITHOTRIPTER U 15/50 - A MULTIFUNCTIONAL AND MULTIDISCIPLINARY WORKSTATION/
Journal of endourology
Digital image in cardiology now and for the future
INTERNATIONAL JOURNAL OF CARDIAC IMAGING
CLINICAL-EXPERIENCE WITH THE STORZ-MODULITH SL-20 LITHOTRIPTOR
Southern medical journal
A MUTATIONAL HOTSPOT IN THE 2B DOMAIN OF HUMAN HAIR BASIC KERATIN-6 (HHB6) IN MONILETHRIX PATIENTS
Journal of investigative dermatology
A VARIABLE MONILETHRIX PHENOTYPE ASSOCIATED WITH A NOVEL MUTATION, GLU402LYS, IN THE HELIX TERMINATION MOTIF OF THE TYPE-II HAIR KERATIN HHB1
Journal of investigative dermatology
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma
JOURNAL OF INVESTIGATIVE DERMATOLOGY
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
SUCCESSFUL PRENATAL EXCLUSION OF AN UNSPECIFIED SUBTYPE OF SEVERE EPIDERMOLYSIS-BULLOSA
International journal of dermatology
A GLUTAMATE TO LYSINE MUTATION AT THE END OF 2B ROD DOMAIN OF KERATIN2E GENE IN ICHTHYOSIS BULLOSA OF SIEMENS
Acta dermato-venereologica
MUTATIONS IN THE HAIR CORTEX KERATIN HHB6 CAUSE THE INHERITED HAIR DISEASE MONILETHRIX
Nature genetics
STEATOCYSTOMA MULTIPLEX AND OLIGOSYMPTOMATIC PACHYONYCHIA-CONGENITA OF THE JACKSON-SERTOLI TYPE
Dermatology
A NEW MUTATION IN THE TYPE-II HAIR CORTEX KERATIN HHB1 INVOLVED IN THE INHERITED HAIR DISORDER MONILETHRIX
Human genetics
PIEZOELECTRIC EXTRACORPOREAL SHOCK-WAVE LITHOTRIPSY OF LOWER POLE NEPHROLITHIASIS
European urology
A NOVEL DINUCLEOTIDE MUTATION IN KERATIN-10 IN THE ANNULAR EPIDERMOLYTIC ICHTHYOSIS VARIANT OF BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA
Journal of investigative dermatology
DEFINITIVE EVIDENCE FOR AN AUTOSOMAL RECESSIVE FORM OF HYPOHIDROTIC ECTODERMAL DYSPLASIA CLINICALLY INDISTINGUISHABLE FROM THE MORE COMMON X-LINKED DISORDER
American journal of human genetics
ICHTHYOSIS BULLOSA OF SIEMENS - A DISTINCT TYPE OF EPIDERMOLYTIC HYPERKERATOSIS
EJD. European journal of dermatology
HETEROGENEOUS REACTIVITY WITH LH7.2 AND THE FIRST PRENATAL-DIAGNOSIS OF GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA AMONG JAPANESE PATIENTS
Dermatology
THE MOLECULAR-BASIS FOR INHERITED BULLOUS DISEASES
Journal of molecular medicine
SAFETY AND EFFECTIVENESS OF LITHOSTAR SHOCK-TUBE-C IN THE TREATMENT OF URINARY CALCULI
Journal of endourology
EXTRACORPOREAL SHOCK-WAVE LITHOTRIPSY IN CHILDREN
Urology
THE CASE FOR PRIMARY ENDOSCOPIC MANAGEMENT OF UPPER URINARY-TRACT CALCULI .1. A CRITICAL-REVIEW OF 121 EXTRACORPOREAL SHOCK-WAVE LITHOTRIPSY FAILURES
Urology
THE CASE FOR PRIMARY ENDOSCOPIC MANAGEMENT OF UPPER URINARY-TRACT CALCULI .2. COST AND OUTCOME ASSESSMENT OF 112 PRIMARY URETERAL CALCULI
Urology
COST AND EFFECTIVENESS OF DIFFERENT TREATMENT ALTERNATIVES IN URINARYSTONE PRACTICE
Scandinavian journal of urology and nephrology
DNA-BASED PRENATAL-DIAGNOSIS OF GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 6 PREGNANCIES AT RISK FOR RECURRENCE
Journal of investigative dermatology
INHERITED EPIDERMOLYSIS-BULLOSA - TOWARDS CLASSIFICATION AND GENETICSCOUNSELING BASED UPON IDENTIFICATION OF MOLECULAR DEFECTS
Archives de pediatrie
KERATIN GENES AND EPIDERMOLYTIC HYPERKERATOSIS
Lancet
KINETIC-STUDY OF SILICON PRECIPITATION FR OM SIHCL3
Nippon Kinzoku Gakkaishi
MOSAIC EXPRESSION OF HYPOHIDROTIC ECTODERMAL DYSPLASIA IN AN ISOLATEDAFFECTED FEMALE CHILD
Archives of dermatology
LOW-ENERGY LITHOTRIPSY WITH THE LITHOSTAR - TREATMENT RESULTS WITH 19,962 RENAL AND URETERAL CALCULI
The Journal of urology