CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
Bergman, J E H, Janssen, N, Hoefsloot, L H, Jongmans, M C J, Hofstra, R M W, van Ravenswaaij-Arts, C M A
Published in Journal of Medical Genetics (01.05.2011)
Published in Journal of Medical Genetics (01.05.2011)
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Book Review
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines
Hitzert, M M, van der Crabben, S N, Baldewsingh, G, van Amstel, H K Ploos, van den Wijngaard, A, van Ravenswaaij-Arts, C M A, Zijlmans, C W R
Published in Orphanet journal of rare diseases (19.12.2019)
Published in Orphanet journal of rare diseases (19.12.2019)
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Journal Article
3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients
Dimitrov, B. I., Ogilvie, C., Wieczorek, D., Wakeling, E., Sikkema-Raddatz, B., van Ravenswaaij-Arts, C. M. A., Josifova, D.
Published in American journal of medical genetics. Part A (01.06.2015)
Published in American journal of medical genetics. Part A (01.06.2015)
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Journal Article
Neuropsychological phenotype and psychopathology in seven adult patients with Phelan‐McDermid syndrome: implications for treatment strategy
Egger, J. I. M., Zwanenburg, R. J., Ravenswaaij‐Arts, C. M. A., Kleefstra, T., Verhoeven, W. M. A.
Published in Genes, brain and behavior (01.04.2016)
Published in Genes, brain and behavior (01.04.2016)
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Journal Article
CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome
Jongmans, MCJ, Van Ravenswaaij-Arts, CMA, Pitteloud, N, Ogata, T, Sato, N, Claahsen-van der Grinten, HL, Van Der Donk, K, Seminara, S, Bergman, JEH, Brunner, HG, Crowley Jr, WF, Hoefsloot, LH
Published in Clinical genetics (01.01.2009)
Published in Clinical genetics (01.01.2009)
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Journal Article
Chromosomal abnormalities in azoospermic and non-azoospermic infertile men: numbers needed to be screened to prevent adverse pregnancy outcomes
Dul, E.C., van Echten-Arends, J., Groen, H., Dijkhuizen, T., Land, J.A., van Ravenswaaij-Arts, C.M.A.
Published in Human reproduction (Oxford) (01.09.2012)
Published in Human reproduction (Oxford) (01.09.2012)
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Journal Article
The prevalence of chromosomal abnormalities in subgroups of infertile men
Dul, E.C., Groen, H., van Ravenswaaij-Arts, C.M.A., Dijkhuizen, T., van Echten-Arends, J., Land, J.A.
Published in Human reproduction (Oxford) (01.01.2012)
Published in Human reproduction (Oxford) (01.01.2012)
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Journal Article
Who should be screened for chromosomal abnormalities before ICSI treatment?
Dul, E.C., van Ravenswaaij-Arts, C.M.A., Groen, H., van Echten-Arends, J., Land, J.A.
Published in Human reproduction (Oxford) (01.11.2010)
Published in Human reproduction (Oxford) (01.11.2010)
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Journal Article
Death in CHARGE syndrome after the neonatal period
Bergman, JEH, Blake, KD, Bakker, MK, Du Marchie Sarvaas, GJ, Free, RH, Van Ravenswaaij-Arts, CMA
Published in Clinical genetics (01.03.2010)
Published in Clinical genetics (01.03.2010)
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Journal Article
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions
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
Published in European journal of medical genetics (01.09.2009)
Published in European journal of medical genetics (01.09.2009)
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Journal Article
Chromosomal abnormalities in 1663 infertile men with azoospermia: the clinical consequences
Donker, R B, Vloeberghs, V, Groen, H, Tournaye, H, van Ravenswaaij-Arts, C M A, Land, J A
Published in Human reproduction (Oxford) (01.12.2017)
Published in Human reproduction (Oxford) (01.12.2017)
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Journal Article
Molecular and clinical studies in 8 patients with Temple syndrome
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.
Published in Clinical genetics (01.06.2018)
Published in Clinical genetics (01.06.2018)
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Journal Article
Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD
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.
Published in Human reproduction (Oxford) (01.02.2015)
Published in Human reproduction (Oxford) (01.02.2015)
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Journal Article
CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery
Vesseur, A. C., Verbist, B. M., Westerlaan, H. E., Kloostra, F. J. J., Admiraal, R. J. C., van Ravenswaaij-Arts, C. M. A., Free, R. H., Mylanus, E. A. M.
Published in European archives of oto-rhino-laryngology (01.12.2016)
Published in European archives of oto-rhino-laryngology (01.12.2016)
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Journal Article
De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms
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.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
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Journal Article
Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis
Van Echten-Arends, J., Coonen, E., Reuters, B., Suijkerbuijk, R.F., Dul, E.C., Land, J.A., van Ravenswaaij-Arts, C.M.A.
Published in Human reproduction (Oxford) (01.11.2013)
Published in Human reproduction (Oxford) (01.11.2013)
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Journal Article
More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated
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.
Published in Molecular syndromology (01.06.2013)
Published in Molecular syndromology (01.06.2013)
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Journal Article
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2
Patat, O., van Ravenswaaij-Arts, C.M.A., Tantau, J., Corsten-Janssen, N., van Tintelen, J.P., Dijkhuizen, T., Kaplan, J., Chassaing, N.
Published in Molecular syndromology (01.09.2013)
Published in Molecular syndromology (01.09.2013)
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Journal Article
MISINTERPRETATION OF TRISOMY 18 AS A PSEUDOMOSAICISM AT THIRD-TRIMESTER AMNIOCENTESIS OF A CHILD WITH A MOSAIC 46,XY/47,XY,+3/48,XXY,+18 KARYOTYPE
VAN RAVENSWAAIJ-ARTS, C. M. A., TUERLINGS, J. H. A. M., VAN HEYST, A. F. J., NIJHUIS, J. G., NIEHOF, J., SMEETS, D. F. C. M.
Published in Prenatal diagnosis (01.04.1997)
Published in Prenatal diagnosis (01.04.1997)
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