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J. O. Van Hemel

Researcher at Erasmus University Rotterdam

Publications -  32
Citations -  1382

J. O. Van Hemel is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Chromosomal translocation & Trisomy. The author has an hindex of 17, co-authored 32 publications receiving 1354 citations.

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Genetic risk factors in infertile men with severe oligozoospermia and azoospermia

TL;DR: A genetic abnormality was identified in 36/150 (24%) men with extreme oligozoospermia and azoospermia, which can result in offspring with an enhanced risk of unbalanced chromosome complement, male infertility due to the transmission of a Y-chromosomal microdeletion, and cystic fibrosis if both partners are CFTR gene mutation carriers.
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Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection

TL;DR: Prenatal cytogenetic analysis of 71 fetuses conceived by intracytoplasmic sperm injection resulted in the detection of nine chromosome aberrations including two cases of 47,XXY, four cases involving a 45,X cell line and three autosomal trisomies.
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Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection : the Dutch experience

TL;DR: A nationwide cytogenetic study is performed to assess the frequency of chromosomal aberrations in male ICSI candidates, finding that of the 1792 males examined, 72 (4.0%) revealed a chromosomal aberration, and one individual even had two.
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Marker chromosomes in A series of 10000 prenatal diagnoses. Cytogenetic and follow-up studies

TL;DR: It is concluded that it seems safe to continue the pregnancy in cases of a familial marker, identical to that of one parent, whilst a de novo DA‐DAPI positive marker seems to present a low risk for fetal anomalies.
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Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

TL;DR: Clinical and molecular findings illustrate the necessity to perform DNA analysis of the FMR-1 gene in mentally retarded patients presenting with a PW phenotype but without the PWS specific cytogenetic/molecular abnormalities of chromosome 15.