Search Results - "Liebaers, Ingeborg"
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The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract
Published in Journal of assisted reproduction and genetics (01-06-2010)“…Purpose This study aims to analyze the relationship between trinucleotide repeat length and reproductive outcome in a large cohort of DM1 patients undergoing…”
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Decisional authority and moral responsibility of patients and clinicians in the context of preimplantation genetic diagnosis
Published in Reproductive biomedicine online (2003)“…Case reports reveal that clinicians applying preimplantation genetic diagnosis are increasingly confronted with requests by patients which they consider…”
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Birth After Preimplantation Diagnosis of the Cystic Fibrosis △F508 Mutation by Polymerase Chain Reaction in Human Embryos Resulting From Intracytoplasmic Sperm Injection With Epididymal Sperm
Published in JAMA : the journal of the American Medical Association (21-12-1994)“…Men with congenital bilateral absence of the vas deferens (CBAVD) have been regarded as presenting a mild form of cystic fibrosis (CF). In this article, we…”
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Preimplantation Diagnosis of the Cystic Fibrosis ΔF508 Mutation: What of the Other Two Embryos?-Reply
Published in JAMA : the journal of the American Medical Association (12-07-1995)“…In Reply.—Drs Callahan and Person raise points of discussion to which, we are afraid, no clear-cut answers can be given. Opinions about life and health differ…”
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Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion
Published in Prenatal diagnosis (01-04-1995)“…To perform preimplantation DNA diagnosis for Duchenne muscular dystrophy (DMD) in a female carrier of a dystrophin gene deletion of exons 3-18, we developed a…”
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Amplification of X- and Y-chromosome-specific regions from single human blastomeres by polymerase chain reaction for sexing of preimplantation embryos
Published in Human reproduction (Oxford) (01-04-1994)“…We describe a polymerase chain reaction (PCR) assay for the simultaneous detection of X and Y chromosomes in human blastomeres. In a first round of PCR, both…”
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Cystic fibrosis, Duchenne muscular dystrophy and preimplantation genetic diagnosis
Published in Human reproduction update (01-11-1996)“…Cystic fibrosis (CF) is the most common genetic disease among Caucasians. Duchenne muscular dystrophy (DMD) is one of the most common X-linked genetic…”
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Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency
Published in Human mutation (1996)“…Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X‐linked E1α gene. We have developed a rapid screening method…”
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Polymerase chain reaction analysis of the cystic fibrosis delta F508 mutation in human blastomeres following oocyte injection of a single sperm from a carrier
Published in Prenatal diagnosis (01-09-1993)“…The efficiency of the polymerase chain reaction (PCR) in detecting the cystic fibrosis (CF) delta F508 mutation (which is the most common mutation of CF) was…”
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Efficiency of polymerase chain reaction assay for cystic fibrosis in single human blastomeres according to the presence or absence of nuclei
Published in Fertility and sterility (01-04-1993)“…To amplify by polymerase chain reaction (PCR) assay the region of the most common mutation of cystic fibrosis (CF) in human blastomeres. Blastomeres were…”
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HLA typing and preimplantation genetic diagnosis: Le clonage
Published in Médecine thérapeutique médecine de la reproduction (2006)Get full text
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Enzymic diagnosis of the genetic mucopolysaccharide storage disorders
Published in Methods in enzymology (1978)Get more information
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Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome
Published in Pediatric research (01-08-1976)“…A previously described assay for iduronate sulfatase has been adapted for use with serum, lymphocytes, and fibroblasts. The assay also gives a rough measure of…”
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Iduronate sulfatase in amniotic fluid: an aid in the prenatal diagnosis of the hunter syndrome
Published in The Journal of pediatrics (01-03-1977)Get more information
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Intracytoplasmic sperm injection
Published in Baillière's clinical obstetrics and gynaecology (01-03-1994)“…Intracytoplasmic sperm injection (ICSI) is a promising assisted fertilization technique that may benefit women who have not become pregnant by in-vitro…”
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