Search Results - "Leschot, NJ"

Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study by Hoogerwaard, EM, Bakker, E, Ippel, PF, Oosterwijk, JC, Majoor-Krakauer, DF, Leschot, NJ, Van Essen, AJ, Brunner, HG, van der Wouw, PA, Wilde, AAM, de Visser, M

“…Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on…”
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Reproductive outcome after chromosome analysis in couples with two or more miscarriages: case-control study by Franssen, Maureen T M, Korevaar, Johanna C, van der Veen, Fulco, Leschot, Nico J, Bossuyt, Patrick M M, Goddijn, Mariette

“…Abstract Objective To compare reproductive outcomes in couples carrying a structural chromosome abnormality and non-carrier couples referred for chromosome…”
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Selective chromosome analysis in couples with two or more miscarriages: case-control study by Franssen, Maureen T M, Korevaar, Johanna C, Leschot, Nico J, Bossuyt, Patrick M M, Knegt, Alida C, Gerssen-Schoorl, Klasien B J, Wouters, Cokkie H, Hansson, Kerstin B M, Hochstenbach, Ron, Madan, Kamlesh, van der Veen, Fulco, Goddijn, Mariette

“…Abstract Objective To identify additional factors, such as maternal age or factors related to previous reproductive outcome or family history, and the…”
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Genetic aspects of miscarriage by Goddijn, M., Leschot, N.J.

“…Fetal chromosome abnormalities account for about 50% of first-trimester pregnancy losses. Most of these abnormalities are numerical abnormalities (86%) and a…”
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Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage by Goddijn, M., Joosten, J.H.K., Knegt, A.C., van derVeen, F., Franssen, M.T.M., Bonsel, G.J., Leschot, N.J.

“…BACKGROUND: The annual number of parental karyotypes in cases of repeated miscarriage is increasing gradually in The Netherlands. The efficiency of offering…”
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A comparison of counselee and counselor satisfaction in reproductive genetic counseling by Aalfs, CM, Oort, FJ, de Haes, JCJM, Leschot, NJ, Smets, EMA

“…Important insights in the process of genetic counseling can be provided by establishing levels of satisfaction. The aim of our study was to compare counselees’…”
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Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era? by van Langen, I.M, Birnie, E, Leschot, N.J, Bonsel, G.J, Wilde, A.A.M

“…Aims Genetic scientific knowledge is growing rapidly but how this affects clinical practice is unclear. We investigated the levels of knowledge, practical…”
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Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy by Hoogerwaard, E.M., van der Wouw, P.A., Wilde, A.A.M., Bakker, E., Ippel, P.F., Oosterwijk, J.C., Majoor-Krakauer, D.F., van Essen, A.J., Leschot, N.J., de Visser, M.

“…A cross-sectional study in a cohort of DNA proven carriers of Duchenne (DMD) and Becker (BMD) muscular dystrophy was undertaken with the following objectives:…”
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Reduced copy number of DAZ genes in subfertile and infertile men by de Vries, Jan W A, Hoffer, Mariëtte J V, Repping, Sjoerd, Hoovers, Jan M N, Leschot, Nico J, van der Veen, Fulco

“…To determine the copy number and identity of the DAZ genes on the Y chromosomes of infertile patients. Prospective study. University medical center. One…”
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Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern by Gianotten, Judith, Westerveld, G.Henrike, Leschot, Nico J., Tanck, Michael W.T., Lilford, Richard J., Lombardi, M.Paola, van der Veen, Fulco

“…BACKGROUND: The aetiology of impaired spermatogenesis is unknown in the majority of cases. Evidence of a contribution of genetic factors is still scarce…”
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Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis by Westerveld, G Henrike, Repping, Sjoerd, Leschot, Nico J, van der Veen, Fulco, Lombardi, M Paola

“…Mutation screening of the BOULE gene in 156 men with azoospermia or severe oligozoospermia revealed no relevant mutations; thus, mutations in BOULE can be…”
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Heterogeneous nuclear ribonucleoprotein G‐T (HNRNP G‐T) mutations in men with impaired spermatogenesis by Westerveld, G.H., Gianotten, J., Leschot, N.J., van derVeen, F., Repping, S., Lombardi, M.P.

“…The genetic cause of male subfertility due to impaired spermatogenesis is unknown in the majority of cases, but the general assumption is that it is a complex…”
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Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency by de Graaf, Irene M., Pajkrt, Eva, Bilardo, Caterina M., Leschot, Nico J., Cuckle, Howard S., van Lith, Jan M. M.

“…We determined the aneuploidy detection rate achievable by early pregnancy screening with pregnancy associated plasma protein (PAPP)‐A, free β human chorionic…”
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Counselor–counselee interaction in reproductive genetic counseling: Does a pregnancy in the counselee make a difference? by Aalfs, Cora M., Oort, Frans J., de Haes, Hanneke C.J.M., Leschot, Nico J., Smets, Ellen M.A.

“…To investigate the influence of a pregnancy and other counselee characteristics on several aspects of counselor–counselee interaction during the initial…”
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Clinical relevance of partial AZFc deletions by de Vries, Jan W A, Repping, Sjoerd, van Daalen, Saskia K M, Korver, Cindy M, Leschot, Nico J, van der Veen, Fulco

“…To determine the number of DAZ gene clusters in the Y-bearing spermatozoa of patients who underwent intracytoplasmic sperm injection (ICSI) and to compare the…”
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Chromosomal region 11p15 is associated with male factor subfertility by Gianotten, Judith, van der Veen, Fulco, Alders, Mariëlle, Leschot, Nico J., Tanck, Michael W.T., Land, Jolande A., Kremer, Jan A.M., Hoefsloot, Lies H., Mannens, Marcel M., Lombardi, M. Paola, Hoffer, Mariëtte J.V.

“…The molecular aetiology of male factor subfertility, due to impaired spermatogenesis, is still unknown in the majority of cases. It is thought to be a complex…”
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Referral for genetic counselling during pregnancy: limited alertness and awareness about genetic risk factors among GPs by Aalfs, Cora M, Smets, Ellen MA, de Haes, Hanneke CJM, Leschot, Nico J

“…Background. In many countries, GPs play a key role in the referral to other medical specialists. Referral for reproductive genetic counselling during a…”
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Partial DAZ deletions in a family with five infertile brothers by Gianotten, Judith, Hoffer, Mariëtte J V, De Vries, Jan W A, Leschot, Nico J, Gerris, Jan, van der Veen, Fulco

“…To study the genetic cause of infertility in a family with five infertile brothers. Case report. Center for reproductive medicine at a university medical…”
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Genetic counseling for familial conditions during pregnancy: an analysis of patient characteristics by Aalfs, CM, Mollema, ED, Oort, FJ, De Haes, JCJM, Leschot, NJ, Smets, EMA

“…Reproductive genetic counseling for a familial genetic risk factor preferably takes place before conception. However, of the women with a family history of…”
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Absence of deleted in azoospermia (DAZ) genes in spermatozoa of infertile men with somatic DAZ deletions by de Vries, J W, Repping, S, Oates, R, Carson, R, Leschot, N J, van der Veen, F

“…To determine the presence or absence of the deleted in azoospermia (DAZ) gene clusters in the Y-bearing spermatozoa in semen of severely oligozoospermic men or…”
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