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Skewed X inactivation and recurrent spontaneous abortion
SEMINARS IN REPRODUCTIVE MEDICINE
Skewed X inactivation in X-linked disorders
SEMINARS IN REPRODUCTIVE MEDICINE
NEMO/IKK gamma: Linking NF-kappa B to human disease
TRENDS IN MOLECULAR MEDICINE
Blocking caspase-3-mediated proteolysis of IKK beta suppresses TNF-alpha-induced apoptosis
MOLECULAR CELL
IKK beta is essential for protecting T cells from TNF alpha-induced apoptosis
IMMUNITY
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling
NATURE GENETICS
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
HUMAN MOLECULAR GENETICS
NF-kappa B signaling and human disease
CURRENT OPINION IN GENETICS & DEVELOPMENT
Requirement of NF-kappa B/Rel for the development of hair follicles and other epidermal appendices
DEVELOPMENT
Raf kinase inhibitor protein interacts with NF-kappa B-inducing kinase andTAK1 and inhibits NF-kappa 13 activation
MOLECULAR AND CELLULAR BIOLOGY
The alpha and beta subunits of I kappa B kinase (IKK) mediate TRAF2-dependent IKK recruitment to tumor necrosis factor (TNF) receptor 1 in response to TNF
MOLECULAR AND CELLULAR BIOLOGY
Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation andnormal intellectual development
AMERICAN JOURNAL OF MEDICAL GENETICS
Rapid publication - Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
AMERICAN JOURNAL OF MEDICAL GENETICS
Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrierof an HPRT1 mutation responsible for Lesch-Nyhan syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
Disruption of NF-kappa B signaling and chemokine gene activation by retroviral mediated expression of IKK gamma/NEMO mutants
VIROLOGY
IKK alpha controls formation of the epidermis independently of NF-kappa B
NATURE
Incontinentia pigmenti Bloch-Sulzberger. Case report
MONATSSCHRIFT KINDERHEILKUNDE
NF-kappa B-inducing kinase is dispensable for activation of NF-kappa B in inflammatory settings but essential for lymphotoxin beta receptor activation of NF-kappa B in primary human fibroblasts
JOURNAL OF IMMUNOLOGY
IKK gamma/NEMO facilitates the recruitment of the I kappa B proteins into the I kappa B kinase complex
JOURNAL OF BIOLOGICAL CHEMISTRY
Critical roles of TRAF2 and TRAF5 in tumor necrosis factor-induced NF-kappa B activation and protection from cell death
JOURNAL OF BIOLOGICAL CHEMISTRY
New insights into the role of nuclear factor-kappa B in cell growth regulation
AMERICAN JOURNAL OF PATHOLOGY
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID)
AMERICAN JOURNAL OF HUMAN GENETICS
Ocular manifestations of incontinentia pigmenti
ACTA OPHTHALMOLOGICA SCANDINAVICA
Diagnosis and follow up in four cases of incontinentia pigmenti
PEDIATRICS INTERNATIONAL
Keratoacanthoma developing on a pigmented patch in incontinentia pigmenti
DERMATOLOGY
Hypomelanosis of ito: Clinical syndrome or just phenotype?
JOURNAL OF CHILD NEUROLOGY
A pregnancy following PGD for X-linked autosomal dominant Incontinentia Pigmenti (Bloch-Sulzberger syndrome)
HUMAN REPRODUCTION
Functional Xp disomy and hypomelanosis of Ito
ARCHIVES OF MEDICAL RESEARCH
Familial hypomelanosis of Ito: Implications for genetic counselling
AMERICAN JOURNAL OF MEDICAL GENETICS
Dermatologic clues to inherited disease
PEDIATRIC CLINICS OF NORTH AMERICA
Evaluation of the Norrie disease gene in a family with Incontinentia pigmenti
OPHTHALMIC RESEARCH
Hypomelanosis of Ito in a case of trisomy 9 mosaicism (46,XX/46,XX,t(9;9) (p24;p24)): Spontaneous resolution of skin lesions during childhood
HAUTARZT
Hypomelanosis of Ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism
ANNALES DE GENETIQUE
Segmental nevus depigmentosus: Analysis of 20 patients
PEDIATRIC DERMATOLOGY
An additional case of linear and whorled nevoid hypermelanosis associated with birth defects and mental retardation
PEDIATRIC DERMATOLOGY
Nevus depigmentosus: Clinical features and histopathologic characteristicsin 67 patients
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
Neonatal emergency
ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
Newborn bullae
ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
Mosaic trisomy 7 in a patient with pigmentary abnormalities
AMERICAN JOURNAL OF MEDICAL GENETICS
Random x-inactivation in a girl with duplication Xp11.21-p21.3: Report of a patient and review of the literature
AMERICAN JOURNAL OF MEDICAL GENETICS
Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko
AMERICAN JOURNAL OF MEDICAL GENETICS
Cytogenetic and molecular evidence for cutaneous mosaicism: The ectodermalorigin of Blaschko lines
AMERICAN JOURNAL OF MEDICAL GENETICS
Extracutaneous analogies of Blaschko lines
AMERICAN JOURNAL OF MEDICAL GENETICS
Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicism
AMERICAN JOURNAL OF MEDICAL GENETICS
Clarification of a diagnosis of IP
AMERICAN JOURNAL OF MEDICAL GENETICS
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: Linkage study and neuropsychological data in a large family
AMERICAN JOURNAL OF MEDICAL GENETICS
Incontinentia pigmenti (Bloch-Sulzberger-syndrome): Case report and differential diagnosis to related dermato-ocular syndromes
OPHTHALMOLOGICA
Incontinentia pigmenti (Bloch-Sulzberger syndrome): Report of case
JOURNAL OF DENTISTRY FOR CHILDREN
X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation
CLINICAL GENETICS
Fundus and fluorescein documentation of hypomelanosis of Ito
ARCHIVES OF OPHTHALMOLOGY
Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
AMERICAN JOURNAL OF HUMAN GENETICS
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
AMERICAN JOURNAL OF HUMAN GENETICS
The X chromosome and recurrent spontaneous abortion: The significance of transmanifesting carriers
AMERICAN JOURNAL OF HUMAN GENETICS
MACULAR VASCULOPATHY AND ITS EVOLUTION IN INCONTINENTIA PIGMENTI
Ophthalmic genetics
X-LINKED DYSKERATOSIS-CONGENITA IS CAUSED BY MUTATIONS IN A HIGHLY CONSERVED GENE WITH PUTATIVE NUCLEOLAR FUNCTIONS
Nature genetics
LINEAR AND WHORLED NEVOID HYPERMELANOSIS - REPORT OF 2 CASES
Archives de pediatrie
INCONTINENTIA PIGMENTI - VARIABLE DISEASE EXPRESSION WITHIN AN AFFECTED FAMILY
JEADV. Journal of the European Academy of Dermatology and Venereology
HYPOMELANOSIS OF ITO - A CASE-REPORT WITH CLINICAL AND ULTRASTRUCTURAL DATA
JEADV. Journal of the European Academy of Dermatology and Venereology
HYPOMELANOSIS OF ITO - A STUDY OF 76 INFANTILE CASES
Brain & development
Pigmentary mosaicism in hypomelanosis of Ito - Further evidence for functional disomy of Xp
HUMAN GENETICS
THE PROTEUS SYNDROME - CNS-MANIFESTATIONS
American journal of neuroradiology
THE DEVELOPMENT OF LENTIGINES WITHIN SEGMENTAL ACHROMIC NEVI
Journal of the American Academy of Dermatology
HIGH-INCIDENCE OF AUTOSOMAL RECESSIVE NONSYNDROMAL CONGENITAL RETINALNONATTACHMENT (NCRNA) IN AN IRANIAN FOUNDING POPULATION
American journal of medical genetics
MALE CASES OF INCONTINENTIA PIGMENTI - CASE-REPORT AND REVIEW
American journal of medical genetics
INCONTINENTIA PIGMENTI IN A NEWBORN MALE INFANT WITH DNA CONFIRMATION
American journal of medical genetics
CENTRAL-NERVOUS-SYSTEM INVOLVEMENT IN INCONTINENTIA PIGMENTI - CRANIAL MRI OF 2 SIBLINGS
Neuroradiology
LINEAR AND WHORLED NEVOID HYPERMELANOSIS - CASE-REPORT AND REVIEW OF THE LITERATURE
Hautarzt
NEVUS DEPIGMENTOSUS AND INFLAMMATORY LINEAR EPIDERMAL NEVUS - AN UNUSUAL COMBINATION WITH A NOTE ON HISTOLOGY
International journal of dermatology
SKEWED X-INACTIVATION IN MANIFESTING CARRIERS OF DUCHENNE-MUSCULAR-DYSTROPHY
Clinical genetics
CASE-REPORT - ORTHODONTIC TREATMENT OF DENTAL PROBLEMS IN INCONTINENTIA PIGMENTI
The Angle orthodontist
FAMILIAL SKEWED X INACTIVATION AND X-LINKED MUTATIONS - UNBALANCED X INACTIVATION IS A POWERFUL MEANS TO ASCERTAIN X-LINKED GENES THAT AFFECT CELL-PROLIFERATION
American journal of human genetics
LINKAGE ANALYSIS IN 16 FAMILIES WITH INCONTINENTIA PIGMENTI
European journal of human genetics
CHARACTERIZATION OF X-17(Q12-P13) TRANSLOCATION BREAKPOINTS IN A FEMALE-PATIENT WITH HYPOMELANOSIS OF ITO AND CHOROID-PLEXUS PAPILLOMA
European journal of human genetics
GENOMIC STRUCTURE OF A NOVEL CHLORIDE CHANNEL GENE, CLIC2, IN XQ28
Genomics
GENODERMATOSES IN WOMEN
Clinics in dermatology
ASSOCIATION OF LIVER ADENOMATOSIS AND HEP ATOPORTAL SCLEROSIS IN A WOMAN WITH INCONTINENTIA PIGMENTI
Gastroenterologie clinique et biologique
GLOMERULONEPHRITIS ASSOCIATED WITH HYPOMELANOSIS OF ITO
Nephrologie
2 CASES OF INCONTINENTIA PIGMENTI SIMULATING CHILD-ABUSE
Pediatrics
FUNCTIONAL XP DISOMY AND DE-NOVO T(X-13)(Q10-Q10) IN A GIRL WITH HYPOMELANOSIS OF ITO
Journal of Medical Genetics
FAMILIAL SKEWED-X INACTIVATION - A MOLECULAR TRAIT ASSOCIATED WITH HIGH SPONTANEOUS-ABORTION RATE MAPS TO XQ28
American journal of human genetics
LINEAR HYPOPIGMENTATION AND HYPERPIGMENTATION, INCLUDING MOSAICISM
Seminars in cutaneous medicine and surgery
A COMPARATIVE TRANSCRIPTION MAP OF THE MURINE BARE PATCHES (BPA) AND STRIATED (STR) CRITICAL REGIONS AND HUMAN XQ28
PCR methods and applications
SPORADIC HYPOMELANOSIS OF ITO WITH FOCAL HYPERTRICHOSIS IN A 16-MONTH-OLD GIRL
Dermatology
INCONTINENTIA PIGMENTI AND BEHCETS-DISEASE - A CASE OF IMPAIRED NEUTROPHIL CHEMOTAXIS
Dermatology
LINEAR AND WHORLED NEVOID HYPERMELANOSIS VERSUS INCONTINENTIA PIGMENTI - IS PIGMENTARY INCONTINENCE REALLY A DISTINCTIVE FEATURE
Dermatology
INCONTINENTIA PIGMENTI
Archives de pediatrie
HYPOMELANOSIS OF ITO - ELECTRON-MICROSCOPIC OBSERVATIONS ON 2 NEW CASES
Journal of dermatological science
HYPOMELANOSIS OF ITO AND BRAIN ABNORMALITIES - MRI FINDINGS AND LITERATURE-REVIEW
Pediatric radiology
UNTITLED
Retina
UNTITLED - REPLY
Retina
CEREBRAL MAGNETIC-RESONANCE-IMAGING IN A 2-YEAR-OLD CAUCASIAN GIRL, WITH HYPOMELANOSIS OF ITO
Journal of neuroradiology
ABNORMAL HEAD MRI IN A NEUROLOGICALLY NORMAL BOY WITH HYPOMELANOSIS OF ITO
American journal of medical genetics
CHILD SYNDROME IN A BOY
American journal of medical genetics
INCONTINENTIA PIGMENTI - VALUE OF TOPICAL CORTICOSTEROIDS IN THE NEONATAL-PERIOD
Annales de pediatrie
HYPOMELANOSIS OF ITO AND X-AUTOSOME TRANSLOCATIONS - A UNIFYING HYPOTHESIS
Journal of Medical Genetics
X INACTIVATION ANALYSIS IN A FEMALE WITH HYPOMELANOSIS OF ITO ASSOCIATED WITH A BALANCED X-17 TRANSLOCATION - EVIDENCE FOR FUNCTIONAL DISOMY OF XP
Journal of Medical Genetics
COMMON GENODERMATOSES
International journal of dermatology
ANALYSIS OF 54 CASES OF HYPOPIGMENTATION AND HYPERPIGMENTATION ALONG THE LINES OF BLASCHKO
Archives of dermatology
CLINICO-NEUROPATHOLOGICAL STUDY OF INCONTINENTIA PIGMENTI ACHROMIANS - AN AUTOPSY CASE
Brain & development
MOSAIC LOSS OF 15Q11Q13 IN A PATIENT WITH HYPOMELANOSIS OF ITO - IS THERE A ROLE FOR THE P-GENE
Human genetics