Search Results - "LESCHOT, N. J"

Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy by SCHADE VAN WESTRUM, S. M, HOOGERWAARD, E. M, WILDE, A. A. M, DE HAAN, R. J, DE VISSER, M, VAN DER KOOI, A. J, DEKKER, L, STANDAAR, T. S, BAKKER, E, IPPEL, P. F, OOSTERWIJK, J. C, MAJOOR-KRAKAUER, D. F, VAN ESSEN, A. J, LESCHOT, N. J

“…Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)…”
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Consecutive or non-consecutive recurrent miscarriage: is there any difference in carrier status? by van den Boogaard, E., Kaandorp, S.P., Franssen, M.T.M., Mol, B.W.J., Leschot, N.J., Wouters, C.H., van der Veen, F., Korevaar, J.C., Goddijn, M.

“…BACKGROUND Carrier status of a structural balanced chromosome abnormality is associated with recurrent miscarriage. There is, at present, no evidence of the…”
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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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Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure by Westerveld, G.H., Korver, C.M., van Pelt, A.M.M., Leschot, N.J., van der Veen, F., Repping, S., Lombardi, M.P.

“…Because of the common use of ICSI and the potential genetic aetiology of spermatogenic failure, concern has been raised about transmitting genetic disorders to…”
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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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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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Management of recurrent miscarriage: evaluating the impact of a guideline by Franssen, M.T.M., Korevaar, J.C., van der Veen, F., Boer, K., Leschot, N.J., Goddijn, M.

“…BACKGROUND Little is known on the actual diagnostic and therapeutic management of recurrent miscarriage and the impact of introducing guidelines on this topic…”
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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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Reproductive outcome after PGD in couples with recurrent miscarriage carrying a structural chromosome abnormality: a systematic review by Franssen, M T M, Musters, A M, van der Veen, F, Repping, S, Leschot, N J, Bossuyt, P M M, Goddijn, M, Korevaar, J C

“…Preimplantation genetic diagnosis (PGD) has been stated to improve live birth rates compared with natural conception in couples with recurrent miscarriage (RM)…”
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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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Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage by Franssen, M. T. M., Korevaar, J. C., Tjoa, W. M., Leschot, N. J., Bossuyt, P. M. M., Knegt, A. C., Suykerbuyk, R. F., Hochstenbach, R., van der Veen, F., Goddijn, M.

“…Objective To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. Methods…”
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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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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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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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Genetic counseling for hereditary cancer: A pilot study on experiences of patients and family members by Bleiker, E.M.A, Aaronson, N.K, Menko, F.H, Hahn, D.E.E, van Asperen, C.J, Rutgers, E.J.T, ten Kate, L.P, Leschot, N.J

“…Recent advances in the identification of genetic abnormalities associated with certain types of cancer have stimulated the development of screening and…”
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Human Synaptonemal Complex Protein 1 (SCP1): Isolation and Characterization of the cDNA and Chromosomal Localization of the Gene by Meuwissen, R.L.J., Meerts, I., Hoovers, J.M.N., Leschot, N.J., Heyting, C.

“…Synaptonemal complexes (SCs) are structures that are formed between homologous chromosomes (homologs) during meiotic prophase. They consist of two…”
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High-resolution localization of 69 potential human zinc finger protein genes: a number are clustered by Hoovers, J M, Mannens, M, John, R, Bliek, J, van Heyningen, V, Porteous, D J, Leschot, N J, Westerveld, A, Little, P F

“…In this study, we describe the identification and partial characterization of 101 potential human zinc finger protein genes (ZnFPs). These sequences were…”
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Cytogenetic characteristics of ectopic pregnancy by GODDIJN, M, VAN DER VEEN, F, SCHURING-BLOM, G. H, ANKUM, W. M, LESCHOT, N. J

“…During a 12 month period, tissue was collected from 30 surgically managed patients presenting with vital ectopic pregnancies. Chorionic villi of the removed…”
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Enlarged nuchal translucency and low serum protein concentrations as possible markers for Zellweger syndrome by de Graaf, I. M., Pajkrt, E., Keessen, M., Leschot, N. J., Bilardo, C. M.

“…We present a case of a fetus in which an enlarged nuchal translucency was detected at 12 weeks' gestation. The karyotype was normal. Subsequent ultrasound…”
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