Works by Knegt, Alida C.

Results: 16

Prenatal sonographic features can accurately determine parental origin in triploid pregnancies.

Published in:

2020

By:

Lugthart, Malou A.;
Horenblas, Judith;
Kleinrouweler, Emily C.;
Engels, Melanie;
Knegt, Alida C.;
Huijsdens, Karin;
Leeuwen, Elisabeth;
Pajkrt, Eva;
van Leeuwen, Elisabeth

Publication type:

journal article

Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2.

Published in:

Neuropsychiatric Disease & Treatment, 2016, v. 12, p. 1135, doi. 10.2147/NDT.S102272

By:

Verhoeven, Willem M. A.;
Egger, Jos I. M.;
Knegt, Alida C.;
Zuydam, José;
Kleefstra, Tjitske

Publication type:

Article

Achondroplasia with multiple-suture craniosynostosis: A report of a new case of this rare association.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2641, doi. 10.1002/ajmg.a.36130

By:

Bessenyei, Beáta;
Nagy, Andrea;
Balogh, Erzsébet;
Novák, László;
Bognár, László;
Knegt, Alida C.;
Oláh, Éva

Publication type:

Article

6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1682, doi. 10.1002/ajmg.a.35930

By:

Writzl, Karin;
Knegt, Alida C.

Publication type:

Article

Intellectual Disability and Hemizygous GPD 2 Mutation.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1044, doi. 10.1002/ajmg.a.35873

By:

Barge‐Schaapveld, Daniela Q.C.M.;
Ofman, Rob;
Knegt, Alida C.;
Alders, Mariëlle;
Höhne, Wolfgang;
Kemp, Stephan;
Hennekam, Raoul C.M.

Publication type:

Article

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 884, doi. 10.1002/ajmg.a.35848

By:

Szakszon, Katalin;
Salpietro, Carmelo;
Kakar, Naseebullah;
Knegt, Alida C.;
Oláh, Éva;
Dallapiccola, Bruno;
Borck, Guntram

Publication type:

Article

Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 869, doi. 10.1002/ajmg.a.35236

By:

Szabó, Gabriella P.;
Knegt, Alida C.;
Ujfalusi, Anikó;
Balogh, Erzsébet;
Szabó, Tamás;
Oláh, Éva

Publication type:

Article

Genetic basis of hyperlysinemia.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-57

By:

Houten, Sander M.;
Brinke, Heleen te;
Denis, Simone;
Ruiter, Jos P. N.;
Knegt, Alida C.;
de Klerk, Johannis B. C.;
Augoustides-Savvopoulou, Persephone;
Häberle, Johannes;
Baumgartner, Matthias R.;
Coskun, Turgay;
Zschocke, Johannes;
Sass, Jörn Oliver;
Poll-The, Bwee Tien;
Wanders, Ronald J. A.;
Duran, Marinus

Publication type:

Article

Genetic basis of hyperlysinemia.

Published in:

2013

By:

Houten, Sander M;
Te Brinke, Heleen;
Denis, Simone;
Ruiter, Jos Pn;
Knegt, Alida C;
de Klerk, Johannis Bc;
Augoustides-Savvopoulou, Persephone;
Häberle, Johannes;
Baumgartner, Matthias R;
Coskun, Turgay;
Zschocke, Johannes;
Sass, Jörn Oliver;
Poll-The, Bwee Tien;
Wanders, Ronald Ja;
Duran, Marinus;
Coşkun, Turgay

Publication type:

journal article

Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects.

Published in:

2016

By:

Jansen, Fenna A. R.;
Hoffer, Mariette J. V.;
Velzen, Christine L.;
Plati, Stephani Klingeman;
Rijlaarsdam, Marry E. B.;
Clur, Sally‐Ann B.;
Blom, Nico A.;
Pajkrt, Eva;
Bhola, Shama L.;
Knegt, Alida C.;
Boer, Marion A.;
Haak, Monique C.

Publication type:

journal article

Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007-2009)

Published in:

2014

By:

Siljee, Jacqueline E;
Knegt, Alida C;
Knapen, Maarten F C M;
Bekker, Mireille N;
Visser, Gerard H A;
Schielen, Peter C J I

Publication type:

Journal Article

Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007-2009).

Published in:

Prenatal Diagnosis, 2014, v. 34, n. 3, p. 259, doi. 10.1002/pd.4302

By:

Siljee, Jacqueline E.;
Knegt, Alida C.;
Knapen, Maarten F. C. M.;
Bekker, Mireille N.;
Visser, Gerard. H. A.;
Schielen, Peter C. J. I.

Publication type:

Article

Aiming at multidisciplinary consensus: what should be detected in prenatal diagnosis?

Published in:

Prenatal Diagnosis, 2010, v. 30, n. 11, p. 1049, doi. 10.1002/pd.2609

By:

Boormans, Elisabeth M. A.;
Birnie, E.;
Knegt, Alida C.;
Schuring-Blom, G. Heleen;
Bonsel, Gouke J.;
van Lith, Jan M. M.

Publication type:

Article

FISH analysis of fetal nucleated red blood cells from CVS washings in cases of aneuploidy.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 10, p. 864, doi. 10.1002/pd.160

By:

Heleen Schuring-Blom, G.;
Hoovers, Jan M. N.;
van Lith, Jan M. M.;
Knegt, Alida C.;
Leschot, Nico J.

Publication type:

Article

Genetic analysis of fetal nucleated red blood cells from CVS washings.

Published in:

Prenatal Diagnosis, 2000, v. 20, n. 10, p. 832, doi. 10.1002/1097-0223(200010)20:10<832::AID-PD921>3.0.CO;2-U

By:

Jakobs, Marja E.;
van Lith, Jan M. M.;
de Graaf, Irene M.;
Knegt, Alida C.;
Hoovers, Jan M. N.

Publication type:

Article

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 634, doi. 10.1002/ajmg.a.33837

By:

Szakszon, Katalin;
Berényi, Ervin;
Jakab, András;
Bessenyei, Beáta;
Balogh, Erzsébet;
Köbling, Tamás;
Szilvássy, Judit;
Knegt, Alida C.;
Oláh, Éva

Publication type:

Article