Search Results - "Dreesen, Jos C F M"

Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience by Vernimmen, Vivian, Paulussen, Aimée D C, Dreesen, Jos C F M, van Golde, Ron J, Zamani Esteki, Masoud, Coonen, Edith, van Buul-van Zwet, Marianne L, Homminga, Irene, Derijck, Alwin A H A, Brandts, Lloyd, Stumpel, Constance T R M, de Die-Smulders, Christine E M

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects the skin and the nervous system. The condition is completely penetrant with…”
Get full text

Preimplantation Genetic Testing for Monogenic Kidney Disease by Snoek, Rozemarijn, Stokman, Marijn F, Lichtenbelt, Klaske D, van Tilborg, Theodora C, Simcox, Cindy E, Paulussen, Aimée D C, Dreesen, Jos C M F, van Reekum, Franka, Lely, A Titia, Knoers, Nine V A M, de Die-Smulders, Christine E M, van Eerde, Albertien M

“…A genetic cause can be identified for an increasing number of pediatric and adult-onset kidney diseases. Preimplantation genetic testing (formerly known as…”
Get full text

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis by Smeets, Hubert J.M., Sallevelt, Suzanne C.E.H., Dreesen, Jos C.F.M., de Die-Smulders, Christine E.M., de Coo, Irenaeus F.M.

“…Mitochondrial disorders are among the most common inborn errors of metabolism; at least 15% are caused by mitochondrial DNA (mtDNA) mutations, which occur de…”
Get full text

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases by Verdonschot, Job A J, Hellebrekers, Debby M E I, van Empel, Vanessa P M, Heijligers, Malou, de Munnik, Sonja, Coonen, Edith, Dreesen, Jos C M F, van den Wijngaard, Arthur, Brunner, Han G, Zamani Esteki, Masoud, Heymans, Stephane R B, de Die-Smulders, Christine E M, Paulussen, Aimée D C

“…Preimplantation genetic testing (PGT) is a reproductive technology that selects embryos without (familial) genetic variants. PGT has been applied in inherited…”
Get full text

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres by VAN RIJ, Maartje C, DE RADEMAEKER, Marjan, MOUTOU, Céline, DREESEN, Jos Cfm, DE RYCKE, Martine, LIEBAERS, Inge, GERAEDTS, Joep Pm, DE DIE-SMULDERS, Christine Em, VIVILLE, Stéphane

“…This study provides an overview of 13 years of experience of preimplantation genetic diagnosis (PGD) for Huntington's disease (HD) at three European PGD…”
Get full text

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres by Van Rij, Maartje C, De Rademaeker, Marjan, Moutou, Céline, Dreesen, Jos C F M, De Rycke, Martine, Liebaers, Inge, Geraedts, Joep P M, De Die-smulders, Christine E M, Viville, Stéphane

Get full text

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing by Janssen, Anouk E. J., Koeck, Rebekka M., Essers, Rick, Cao, Ping, van Dijk, Wanwisa, Drüsedau, Marion, Meekels, Jeroen, Yaldiz, Burcu, van de Vorst, Maartje, de Koning, Bart, Hellebrekers, Debby M. E. I., Stevens, Servi J. C., Sun, Su Ming, Heijligers, Malou, de Munnik, Sonja A., van Uum, Chris M. J., Achten, Jelle, Hamers, Lars, Naghdi, Marjan, Vissers, Lisenka E. L. M., van Golde, Ron J. T., de Wert, Guido, Dreesen, Jos C. F. M., de Die-Smulders, Christine, Coonen, Edith, Brunner, Han G., van den Wijngaard, Arthur, Paulussen, Aimee D. C., Zamani Esteki, Masoud

“…High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples…”
Get full text

Erratum: Preimplantation genetic diagnosis (PGD) for Huntington’s disease: the experience of three European centres by Van Rij, Maartje C, De Rademaeker, Marjan, Moutou, Céline, Dreesen, Jos C F M, De Rycke, Martine, Liebaers, Inge, Geraedts, Joep P M, De Die-Smulders, Christine E M, Viville, Stéphane

Get full text

Allelic dropout caused by allele-specific amplification failure in single-cell PCR of the cystic fibrosis ΔF508 deletion by DREESEN, J. C. F. M, BRAS, M, COONEN, E, DUMOULIN, J. C. M, EVERS, J. L. H, GERAEDTS, J. P. M

Get full text

Clinical application of FISH for sex determination of embryos in preimplantation diagnosis of X-linked diseases by COONEN, E, DUMOULIN, J. C. M, DREESEN, J. C. F. M, BRAS, M, EVERS, J. L. H, GERAEDTS, J. P. M

Get full text

Somatic origin of inherited haemophilia A by BRÖCKER-VRIENDS, A. H. J. T, BRIËT, E, DREESEN, J. C. F. M, BAKKER, B, REITSMA, P, PANNEKOEK, H, VAN DE KAMP, J. J. P, PEARSON, P. L

“…We found a partial deletion of the clotting factor VIII gene of about 2000 bp, spanning exon 5 and part of intervening sequence 4 and 5 in an isolated patient…”
Get full text

Molecular Cloning and Restriction Endonuclease Mapping of the Rat Cytomegalovirus Genome by Meijer, Henk, Dreesen, Jos C. F. M, van Boven, Cees P. A

“…Department of Medical Microbiology, State University of Limburg, P.O. Box 616, 6200 MD Maastricht, The Netherlands Rat cytomegalovirus (RCMV) DNA was cleaved…”
Get full text

Recombination of DXS548 (RS46) with the FRAXA locus by Dreesen, J C, Smits, A P, van Oost, B A

Get more information

Validation of linkage-based DNA-diagnosis of fragile X gene carriers with the CGG repeat probe by van Oost, B A, Smits, A P, Dreesen, J C, van den Ouweland, A M, Oostra, B A

“…We have evaluated our carrier testing for the fragile X [fra(X)] syndrome, which was based on linked DNA markers, with the direct analysis of the CGG repeat…”
Get more information

Penetrance of fra(X) gene: influence of grandparental origin of the gene, mental status of the carrier mother, and presence of a normal transmitting male by Smits, A P, van Oost, B A, de Haan, A F, Hamel, B C, Dreesen, J C, Smeets, D F

“…Previous studies have indicated that the fragile X [fra(X)] gene does not show full penetrance (mental impairment) in carrier females or "carrier" males. The…”
Get more information