Search Results - "Frints, Suzanne"

Non-invasive prenatal testing: ethical issues explored by DE JONG, Antina, DONDORP, Wybo J, DE DIE-SMULDERS, Christine E. M, FRINTS, Suzanne G. M, DE WERT, Guido M. W. R

“…This paper explores the ethical implications of introducing non-invasive prenatal diagnostic tests (NIPD tests) in prenatal screening for foetal abnormalities…”
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Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus by Bonthron, David T, Lindahl, Tomas, Ali, Manir, Ponsot, Gerard, Robins, Peter, Voit, Thomas, van Bokhoven, Hans, Barnes, Deborah E, Livingston, John H, Massey, Roger F, Crow, Yanick J, Parmar, Rekha, Lebon, Pierre, Jackson, Andrew P, Hayward, Bruce E, Hamel, Ben C, Leitch, Andrea, Klepper, Joerg, Cowan, Frances M, Frints, Suzanne G, Black, Deborah N, Lynch, Sally Ann, Meritet, Jean François, Brunner, Han G, Corry, Peter C, Michaud, Jacques L

“…Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral…”
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Osteopathia striata with cranial sclerosis owing to WTX gene defect by Perdu, Bram, Freitas, Fenna de, Frints, Suzanne GM, Schouten, Meyke, Schrander‐Stumpel, Connie, Barbosa, Mafalda, Pinto‐Basto, Jorge, Reis‐Lima, Margarida, Vernejoul, Marie‐Christine de, Becker, Kristin, Freckmann, Marie‐Louise, Keymolen, Kathlijn, Haan, Eric, Savarirayan, Ravi, Koenig, Rainer, Zabel, Bernhard, Vanhoenacker, Filip M, Hul, Wim Van

“…Osteopathia striata with cranial sclerosis (OSCS) is an X‐linked dominant condition marked by linear striations mainly affecting the metaphyseal region of the…”
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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium by de Brouwer, Arjan P.M., Yntema, Helger G., Kleefstra, Tjitske, Lugtenberg, Dorien, Oudakker, Astrid R., de Vries, Bert B.A., van Bokhoven, Hans, Van Esch, Hilde, Frints, Suzanne G.M., Froyen, Guy, Fryns, Jean-Pierre, Raynaud, Martine, Moizard, Marie-Pierre, Ronce, Nathalie, Bensalem, Anissa, Moraine, Claude, Poirier, Karine, Castelnau, Laetitia, Saillour, Yoann, Bienvenu, Thierry, Beldjord, Chérif, des Portes, Vincent, Chelly, Jamel, Turner, Gillian, Fullston, Tod, Gecz, Jozef, Kuss, Andreas W., Tzschach, Andreas, Jensen, Lars Riff, Lenzner, Steffen, Kalscheuer, Vera M., Ropers, Hans-Hilger, Hamel, Ben C.J.

“…The EuroMRX family cohort consists of about 400 families with non‐syndromic and 200 families with syndromic X‐linked mental retardation (XLMR). After exclusion…”
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MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation by Gomot, Marie, Gendrot, Chantal, Verloes, Alain, Raynaud, Martine, David, Albert, Yntema, Helger G., Dessay, Sabine, Kalscheuer, Vera, Frints, Suzanne, Couvert, Philippe, Briault, Sylvain, Blesson, Sophie, Toutain, Annick, Chelly, Jamel, Desportes, Vincent, Moraine, Claude

“…Non‐syndromic X‐linked mental retardation (MRX) is a frequent cause of inherited mental retardation. It is a heterogeneous condition in which the first 12…”
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Tetralogy of Fallot with coronary artery to pulmonary artery fistula: Tetralogy of Fallot - coronary to artery fistula by Witters, Ingrid, De Groot, Renee, Van Loo, Kristien, Willekens, Christine, Coumans, Audrey, Frints, Suzanne, Frijns, Jean-Pierre, Baldewijns, Marcella

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Tetralogy of Fallot with coronary artery to pulmonary artery fistula by Witters, Ingrid, De Groot, Renee, Van Loo, Kristien, Willekens, Christine, Coumans, Audrey, Frints, Suzanne, Frijns, Jean-Pierre, Baldewijns, Marcella

“…What's already known about this topic?Coronary artery fistulas are rare anomalies with an incidence of 0.002% in the population. What does this study add?The…”
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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation by Bienvenu, Thierry, Poirier, Karine, Friocourt, Gaelle, Bahi, Nadia, Beaumont, Delphine, Fauchereau, Fabien, Ben Jeema, Lamia, Zemni, Ramzi, Vinet, Marie-Claude, Francis, Fiona, Couvert, Philippe, Gomot, Marie, Moraine, Claude, van Bokhoven, Hans, Kalscheuer, Vera, Frints, Suzanne, Gecz, Josef, Ohzaki, Kanae, Chaabouni, Habiba, Fryns, Jean-Pierre, Desportes, Vincent, Beldjord, Cherif, Chelly, Jamel

“…Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX )…”
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Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene by Veugelers, M, Cat, B D, Muyldermans, S Y, Reekmans, G, Delande, N, Frints, S, Legius, E, Fryns, J P, Schrander-Stumpel, C, Weidle, B, Magdalena, N, David, G

“…Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked syndrome characterized by pre- and postnatal overgrowth (gigantism), which clinically resembles the…”
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Mutational analysis of the GPC3/GPC4glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene by Veugelers, Mark, De Cat, Bart, Sin Ya Muyldermans, Reekmans, Gunter, Delande, Nathalie, Frints, Suzanne, Legius, Eric, Fryns, Jean-Pierre, Schrander-Stumpel, Connie, Weidle, Bernhard, Neiva Magdalena, Guido, David

“…Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked syndrome characterized by pre- and postnatal overgrowth (gigantism), which clinically resembles the…”
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Tetralogy of Fallot with coronary artery to pulmonary artery fistula by Witters, Ingrid, De Groot, Renee, Van Loo, Kristien, Willekens, Christine, Coumans, Audrey, Frints, Suzanne, Frijns, Jean-Pierre, Baldewijns, Marcella

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