Search Results - "Van Ravenswaaij, C.M.A."

Update on Kleefstra Syndrome by Willemsen, M.H., Vulto-van Silfhout, A.T., Nillesen, W.M., Wissink-Lindhout, W.M., van Bokhoven, H., Philip, N., Berry-Kravis, E.M., Kini, U., van Ravenswaaij-Arts, C.M.A., Delle Chiaie, B., Innes, A.M.M., Houge, G., Kosonen, T., Cremer, K., Fannemel, M., Stray-Pedersen, A., Reardon, W., Ignatius, J., Lachlan, K., Mircher, C., Helderman van den Enden, P.T.J.M., Mastebroek, M., Cohn-Hokke, P.E., Yntema, H.G., Drunat, S., Kleefstra, T.

“…Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features…”
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More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated by Corsten-Janssen, N., Saitta, S.C., Hoefsloot, L.H., McDonald-McGinn, D.M., Driscoll, D.A., Derks, R., Dickinson, K.A., Kerstjens-Frederikse, W.S., Emanuel, B.S., Zackai, E.H., van Ravenswaaij-Arts, C.M.A.

“…CHARGE (coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear abnormalities) and 22q11.2 deletion…”
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Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2 by Patat, O., van Ravenswaaij-Arts, C.M.A., Tantau, J., Corsten-Janssen, N., van Tintelen, J.P., Dijkhuizen, T., Kaplan, J., Chassaing, N.

“…Otocephaly-dysgnathia complex is characterized by mandibular hypo- or aplasia, ear abnormalities, microstomia, and microglossia. Mutations in the orthodenticle…”
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Phelan-mcdermid Syndrome in an Adult Female with Mild Intellectual Disability by Verhoeven, W.M.A, Egger, J.I.M, Van Ravenswaaij-Arts, C.M.A, De Leeuw, N

“…Introduction With microarray analysis, several novel microdeletion syndromes have been ascertained that are often accompanied by a specific behavioural…”
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The neuromuscular phenotype of shoulder deformities in CHARGE-syndrome by Verbeek, R.J, de Geus, C.M, van der Hoeven, J.H, van Ravenswaaij-Arts, C.M.A, Sival, D.A

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OP11 – 2424: Genotype–phenotype correlations in patients with GRIN2A variants by Vlaskamp, D.R.M, Callenbach, P.M.C, Rump, P, Vos, Y.J, Dijkhuizen, T, van Ravenswaaij-Arts, C.M.A, Brouwer, O.F

“…Objective The GRIN2A gene has been associated with both benign childhood epilepsies and severe epileptic encephalopathies. This study evaluates the…”
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An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions by Verheij, J.B.G.M, de Munnik, S.A, Dijkhuizen, T, de Leeuw, N, Olde Weghuis, D, van den Hoek, G.J, Rijlaarsdam, R.S, Thomasse, Y.E.M, Dikkers, F.G, Marcelis, C.L.M, van Ravenswaaij-Arts, C.M.A

“…Abstract Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo interstitial deletion of 8q that has not been reported…”
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Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study by de Geus, C M, Bergman, J E H, van Ravenswaaij-Arts, C M A, Meiners, L C

“…We present the largest case series to date on basiocciput abnormalities in CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae,…”
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Molecular and clinical studies in 8 patients with Temple syndrome by Gillessen‐Kaesbach, G., Albrecht, B., Eggermann, T., Elbracht, M., Mitter, D., Morlot, S., van Ravenswaaij‐Arts, C.M.A., Schulz, S., Strobl‐Wildemann, G., Buiting, K., Beygo, J.

“…Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including pre‐ and postnatal growth retardation, muscular…”
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European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities by Feenstra, I., Fang, J., Koolen, D.A., Siezen, A., Evans, C., Winter, R.M., Lees, M.M., Riegel, M., de Vries, B.B.A., Van Ravenswaaij, C.M.A., Schinzel, A.

“…During recent years a considerable improvement in diagnostic techniques has enabled cytogeneticists to find more and smaller chromosomal aberrations. However,…”
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Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD by De Krom, G., Arens, Y.H.J.M., Coonen, E., Van Ravenswaaij-Arts, C.M.A., Meijer-Hoogeveen, M., Evers, J.L.H., Van Golde, R.J.T., De Die-Smulders, C.E.M.

“…STUDY QUESTION Do clinical characteristics of recurrent miscarriage couples with a chromosomal abnormality and who opt for PGD differ from couples that decline…”
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De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms by Powis, Z., Petrik, I., Cohen, J.S., Escolar, D., Burton, J., van Ravenswaaij‐Arts, C.M.A., Sival, D.A., Stegmann, A.P.A., Kleefstra, T., Pfundt, R., Chikarmane, R., Begtrup, A., Huether, R., Tang, S., Shinde, D.N.

“…Due to small numbers of reported patients with pathogenic variants in single genes, the phenotypic spectrum associated with genes causing neurodevelopmental…”
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Chromosomal abnormalities in azoospermic and non-azoospermic infertile men: numbers needed to be screened to prevent adverse pregnancy outcomes by Dul, E.C., van Echten-Arends, J., Groen, H., Dijkhuizen, T., Land, J.A., van Ravenswaaij-Arts, C.M.A.

“…STUDY QUESTION How many infertile men who wish to conceive need to be screened for chromosomal abnormalities to prevent one miscarriage or the birth of one…”
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Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces by Sinnige, P.F., van Ravenswaaij-Arts, C.M.A., Caruso, P., Lin, A.E., Boon, M., Rahikkala, E., Callewaert, B., Meiners, L.C.

“…The autosomal dominant progeroid form of cutis laxa is a recently identified multiple congenital anomaly disorder characterized by thin, wrinkled skin, a…”
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The prevalence of chromosomal abnormalities in subgroups of infertile men by Dul, E.C., Groen, H., van Ravenswaaij-Arts, C.M.A., Dijkhuizen, T., van Echten-Arends, J., Land, J.A.

“…BACKGROUND The prevalence of chromosomal abnormalities is assumed to be higher in infertile men and inversely correlated with sperm concentration. Although…”
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Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage by Feenstra, I, Brunner, H G, van Ravenswaaij, C M A

“…High-resolution molecular cytogenetic techniques such as genomic array CGH and MLPA detect submicroscopic chromosome aberrations in patients with unexplained…”
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Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis by Van Echten-Arends, J., Coonen, E., Reuters, B., Suijkerbuijk, R.F., Dul, E.C., Land, J.A., van Ravenswaaij-Arts, C.M.A.

“…Preimplantation genetic diagnosis (PGD) is offered to couples carrying a reciprocal translocation in an attempt to increase their chance of phenotypically…”
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Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature by Feenstra, I., Koolen, D.A., Van der Pas, J., Hamel, B.C.J., Mieloo, H., Smeets, D.F.C.M., Van Ravenswaaij, C.M.A

“…Duplications of the proximal segment of chromosome 22q are not uncommon, like Cat-eye syndrome and duplications due to familial (11;22) translocations…”
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Who should be screened for chromosomal abnormalities before ICSI treatment? by Dul, E.C., van Ravenswaaij-Arts, C.M.A., Groen, H., van Echten-Arends, J., Land, J.A.

“…Guidelines on karyotyping infertile men before ICSI treatment are not consistent. Most guidelines recommend chromosomal screening in azoospermic and severe…”
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