Search Results - "Oudesluijs, Gretel"

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow by SREBNIAK, Malgorzata, BOTER, Marjan, OUDESLUIJS, Grétel, JOOSTEN, Marieke, GOVAERTS, Lutgarde, OPSTAL, Diane Van, GALJAARD, Robert-Jan H

“…We report on the validation and implementation of the HumanCytoSNP-12 array (Illumina) (HCS) in prenatal diagnosis. In total, 64 samples were used to validate…”
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Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia by VAN DER HOUT, Annemarie H, OUDESLUIJS, Grétel G, VENEMA, Andrea, VERHEIJ, Joke B. G. M, MOL, Bart G. J, RUMP, Patrick, BRUNNER, Han G, VOS, Yvonne J, VAN ESSEN, Anthonie J

“…Hypohidrotic ectodermal dysplasia (HED) can be caused by mutations in the X-linked ectodysplasin A (ED1) gene or the autosomal ectodysplasin A-receptor (EDAR)…”
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Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities by Srebniak, Malgorzata I, Boter, Marjan, Oudesluijs, Gretel O, Cohen-Overbeek, Titia, Govaerts, Lutgarde Cp, Diderich, Karin Em, Oegema, Renske, Knapen, Maarten Fcm, van de Laar, Ingrid Mbh, Joosten, Marieke, Van Opstal, Diane, Galjaard, Robert-Jan H

“…We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic…”
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Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17 by de Vries, Femke A.T., Govaerts, Lutgarde C.P., Knijnenburg, Jeroen, Knapen, Maarten F.C.M., Oudesluijs, Grétel G., Lont, Debora, Noomen, Petra, de Graaff, Katja, Srebniak, Malgorzata I., Van Opstal, Diane

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A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation by Bischoff, Anne M L C, Luijendijk, Mirjam W J, Huygen, Patrick L M, van Duijnhoven, Gerard, De Leenheer, Els M R, Oudesluijs, Grétel G, Van Laer, Lut, Cremers, Frans P M, Cremers, Cor W R J, Kremer, Hannie

“…A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined. A nucleotide substitution was identified in the splice acceptor site of…”
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Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations by Oudesluijs, Grétel, Simon, Marleen E.H., Burggraaf, Rianne H.J., Waterham, Hans R., Hennekam, Raoul C.M.

“…We describe a newborn girl with multiple congenital anomalies and abnormal phenotype comprising underdeveloped corpus callosum with ventriculomegaly,…”
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Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect by Srebniak, Malgorzata I, Boter, Marjan, Verboven-Peerden, Carla Ma, Looye-Bruinsma, Gerda Ag, Oudesluijs, Gretel, Galjaard, Robert-Jan H, Van Opstal, Diane

“…Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland) and microarray technology allows detection of a wide range of new…”
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Congenital Conductive Hearing Loss in Dyschondrosteosis by De Leenheer, Els M. R., Kuijpers-Jagtman, Anne-Marie, Sengers, Rob C. A., Oudesluijs, Grétel G., Rappold, Gudrun A., Cremers, Cor W. R. J.

“…Conductive hearing loss was detected in a boy with a previous diagnosis of dyschondrosteosis. Dyschondrosteosis is a rare inherited condition characterized by…”
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Phenotypic variability of atypical 22q11.2 deletions not including TBX1 by Verhagen, Judith M.A., Diderich, Karin E.M., Oudesluijs, Grétel, Mancini, Grazia M.S., Eggink, Alex J., Verkleij-Hagoort, Anna C., Groenenberg, Irene A.L., Willems, Patrick J., du Plessis, Frederik A., de Man, Stella A., Srebniak, Malgorzata I., van Opstal, Diane, Hulsman, Lorette O.M., van Zutven, Laura J.C.M., Wessels, Marja W.

“…Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate…”
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Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome by Meuwissen, Marije E C, Schot, Rachel, Buta, Sofija, Oudesluijs, Grétel, Tinschert, Sigrid, Speer, Scott D, Li, Zhi, van Unen, Leontine, Heijsman, Daphne, Goldmann, Tobias, Lequin, Maarten H, Kros, Johan M, Stam, Wendy, Hermann, Mark, Willemsen, Rob, Brouwer, Rutger W W, Van IJcken, Wilfred F J, Martin-Fernandez, Marta, de Coo, Irenaeus, Dudink, Jeroen, de Vries, Femke A T, Bertoli Avella, Aida, Prinz, Marco, Crow, Yanick J, Verheijen, Frans W, Pellegrini, Sandra, Bogunovic, Dusan, Mancini, Grazia M S

“…Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth…”
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Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings by Croonen, Ellen A, Nillesen, Willy M, Stuurman, Kyra E, Oudesluijs, Gretel, van de Laar, Ingrid M B M, Martens, Liesbeth, Ockeloen, Charlotte, Mathijssen, Inge B, Schepens, Marga, Ruiterkamp-Versteeg, Martina, Scheffer, Hans, Faas, Brigitte H W, van der Burgt, Ineke, Yntema, Helger G

“…In recent studies on prenatal testing for Noonan syndrome (NS) in fetuses with an increased nuchal translucency (NT) and a normal karyotype, mutations have…”
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New cases of Bohring-Opitz syndrome, update, and critical review of the literature by Bohring, Axel, Oudesluijs, Grétel G., Grange, Dorothy K., Zampino, Giuseppe, Thierry, Patrick

“…We report on four additional unrelated cases of Bohring–Opitz syndrome with the highly characteristic phenotype of facial anomalies including bulging forehead…”
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Plantar lipomatosis, unusual facies, and developmental delay: Confirmation of Pierpont syndrome by Oudesluijs, Grétel G., Hordijk, Roel, Boon, Maartje, Sijens, Paul E., Hennekam, Raoul C.M.

“…In 1998, Pierpont et al. reported on two unrelated boys with plantar lipomatosis, unusual facial phenotype, and developmental delay as a possible new MR/MCA…”
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Omphalocele, radial ray defect and diaphragmatic hernia: another case of Gershoni-Baruch syndrome? by Oudesluijs, G

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Pentalogy of Cantrell and supernumerary naris by Oudesluijs, G

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Another Rare Prenatal Case of Post‐ Z ygotic Mosaic Trisomy 17 by de Vries, Femke A.T., Govaerts, Lutgarde C.P., Knijnenburg, Jeroen, Knapen, Maarten F.C.M., Oudesluijs, Grétel G., Lont, Debora, Noomen, Petra, de Graaff, Katja, Srebniak, Malgorzata I., Van Opstal, Diane

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Prenatally detected orofacial cleft by Exalto, Niek, Cohen-Overbeek, Titia E, van Adrichem, Leon N A, Oudesluijs, Gretel G, Hoogeboom, A J M Jeannette, Wildschut, Hajo I J

“…An increasing number of pregnancies are presumed being terminated following prenatal detection of orofacial cleft during structural ultrasound.After examining…”
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Mosaic isodicentric chromosome 18q: sixth report and review by Oudesluijs, G G, Hulzebos, C V, Sikkema-Raddatz, B, Van Essen, A J

“…We describe a girl with a mosaic isodicentric chromosome 18q with discrete features of trisomy 18. She presented with prenatal growth retardation, prominent…”
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Plantar lipomatosis, unusual facies, and developmental delay: Confirmation of Pierpont syndrome by Oudesluijs, Grétel G., Hordijk, Roel, Boon, Maartje, Sijens, Paul E., Hennekam, Raoul C.M.

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