Molecular Diagnostics in Genodermatoses

Seminars in Cutaneous Medicine and Surgery

Volumn 31, Issue 4, 2012, Pages 211-220

  Schaffer, Julie V ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

DNA arrays; Genetic testing; Genodermatoses; Mosaicism; Next generation sequencing; Prenatal preimplantation diagnosis

Indexed keywords

AMNIOCENTESIS; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHORION VILLUS SAMPLING; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DATA BASE; EXOME; FLUORESCENCE IN SITU HYBRIDIZATION; FUNDING; GAIN OF FUNCTION MUTATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC RISK; GENETIC SCREENING; GENODERMATOSIS; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; GESTATIONAL AGE; HOMOZYGOSITY; HUMAN; INFORMED CONSENT; LABORATORY TEST; LOSS OF FUNCTION MUTATION; MEDICAL DECISION MAKING; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOSAICISM; MULTIPLEX POLYMERASE CHAIN REACTION; NONSENSE MUTATION; ONLINE SYSTEM; PATIENT MONITORING; PHENOTYPE; PRENATAL DIAGNOSIS; RESTRICTION MAPPING; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOMAL INHERITANCE; X CHROMOSOME LINKED DISORDER;

CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC COUNSELING; GENETIC TESTING; GERM-LINE MUTATION; HETEROZYGOTE DETECTION; HUMANS; INFORMED CONSENT; MALE; MOSAICISM; PHENOTYPE; PHYSICAL EXAMINATION; PREIMPLANTATION DIAGNOSIS; PRENATAL DIAGNOSIS; SKIN DISEASES, GENETIC;

EID: 84869746789     PISSN: 10855629     EISSN: 15580768     Source Type: Journal    
DOI: 10.1016/j.sder.2012.08.002     Document Type: Review

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