Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technology

Reproductive BioMedicine Online

Volumn 31, Issue 6, 2015, Pages 770-775

  Giménez, Carles ^a   Sarasa, Jonás ^a   Arjona, César ^a   Vilamajó, Ester ^b   Martínez Pasarell, Olga ^c   Wheeler, Kenny ^a   Valls, Gemma ^b   Garcia Guixé, Elena ^a   Wells, Dagan ^a  

^a Reprogenetics LLC   (United States)

^b Instituto de Reproducción CEFER Lleida   (Spain)

^c FUNDACIÓ PUIGVERT   (Spain)

Author keywords

karyomapping; preimplantation genetic diagnosis; single gene diseases; single nucleotide polymorphism; tuberous sclerosis; whole genome amplification

Indexed keywords

TUBERIN;

ADULT; ANEUPLOIDY; ARTICLE; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; EMBRYO TRANSFER; FEMALE; FEMALE INFERTILITY; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DELETION; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEMIZYGOSITY; HUMAN; HUMAN TISSUE; HYSTEROSALPINGOGRAPHY; KARYOMAPPING; KARYOTYPE; LINKAGE ANALYSIS; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PREIMPLANTATION GENETIC DIAGNOSIS; SCREENING TEST; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMIOGRAM; TUBEROUS SCLEROSIS; VITRIFICATION; CHROMOSOMAL MAPPING; INTRACYTOPLASMIC SPERM INJECTION; KARYOTYPING; NEWBORN; POLYMERASE CHAIN REACTION; PREGNANCY; PROCEDURES;

ADULT; CHROMOSOME MAPPING; COMPARATIVE GENOMIC HYBRIDIZATION; EMBRYO TRANSFER; FEMALE; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PREIMPLANTATION DIAGNOSIS; SEQUENCE DELETION; SPERM INJECTIONS, INTRACYTOPLASMIC;

EID: 84951192885     PISSN: 14726483     EISSN: 14726491     Source Type: Journal    
DOI: 10.1016/j.rbmo.2015.08.017     Document Type: Article

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