First systematic experience of preimplantation genetic diagnosis for de-novo mutations

Reproductive BioMedicine Online

Volumn 22, Issue 4, 2011, Pages 350-361

  Rechitsky, Svetlana ^a   Pomerantseva, Ekaterina ^a   Pakhalchuk, Tatiana ^a   Pauling, Dana ^a   Verlinsky, Oleg ^a   Kuliev, Anver ^a  

^a REPRODUCTIVE GENETICS INSTITUTE   (United States)

Author keywords

de novo mutations; gonadal mosaicism; haplotyping; polar body analysis; preimplantation genetic diagnosis; single sperm genotyping

Indexed keywords

ACCURACY; ACROCEPHALOSYNDACTYLY; ADENOMATOUS POLYPOSIS OF THE COLON; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BASAL CELL NEVUS SYNDROME; BIOPSY; BLACKFAN DIAMOND ANEMIA; BRACHYDACTYLY; CHROMOSOME MOSAICISM; CHRONIC GRANULOMATOUS DISEASE; CORNEA DYSTROPHY; CROUZON SYNDROME; CYSTIC FIBROSIS; DARIER DISEASE; DE NOVO MUTATION; DNA DETERMINATION; EMBRYO BIOPSY; EMBRYO TRANSFER; EMERY DREIFUSS MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FANCONI ANEMIA; GENETIC DISORDER; GENETIC SCREENING; GONADAL MOSAICISM; GRANULOMATOSIS; HAPLOTYPE; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; INCONTINENTIA PIGMENTI; KALLMANN SYNDROME; LENNOX GASTAUT SYNDROME; LOYES DIETZ SYNDROME; MAJOR CLINICAL STUDY; MALIGNANT RHABDOID TUMOUR; MANDIBULOFACIAL DYSOSTOSIS; MARFAN SYNDROME; METAPHYSEAL DYSPLASIA; MULTIPLE ENDOCRINE NEOPLASIA TYPE I; MULTIPLE ENDOCRINE NEOPLASIA TYPE II; MUTATION; NEUROFIBROMATOSIS TYPE I; NEUROFIBROMATOSIS TYPE II; OPTIC NERVE ATROPHY; OSTEOGENESIS IMPERFECTA; PEUTZ JEGHERS SYNDROME; POLYMERASE CHAIN REACTION; PREIMPLANTATION GENETIC DIAGNOSIS; RECESSIVE INHERITANCE; RETINOBLASTOMA; RETT SYNDROME; SEMEN ANALYSIS; SOTOS SYNDROME; SPINAL MUSCULAR ATROPHY; SPINOCEREBELLAR DEGENERATION; STICKLER SYNDROME; TUBEROUS SCLEROSIS; VON HIPPEL LINDAU DISEASE; X CHROMOSOME LINKED DISORDER;

HAPLOTYPES; HUMANS; INHERITANCE PATTERNS; MOSAICISM; MUTATION; PEDIGREE; PREIMPLANTATION DIAGNOSIS; REPRODUCTIVE TECHNIQUES, ASSISTED;

EID: 79953757805     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.rbmo.2011.01.005     Document Type: Article

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