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Refining the phenotype of α-1a Tubulin ( TUBA1A) mutation in patients with classical lissencephaly.
Published in:
Clinical Genetics, 2008, v. 74, n. 5, p. 425, doi. 10.1111/j.1399-0004.2008.01093.x
By:
- Morris-Rosendahl, D. J.;
- Najm, J.;
- Lachmeijer, A. M. A.;
- Sztriha, L.;
- Martins, M.;
- Kuechler, A.;
- Haug, V.;
- Zeschnigk, C.;
- Martin, P.;
- Santos, M.;
- Vasconcelos, C.;
- Omran, H.;
- Kraus, U.;
- Van der Knaap, M. S.;
- Schuierer, G.;
- Kutsche, K.;
- Uyanik, G.
Publication type:
Article
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-53
By:
- van Rahden, Vanessa A.;
- Rau, Isabella;
- Fuchs, Sigrid;
- Kosyna, Friederike K.;
- de Almeida Jr, Hiram Larangeira;
- Fryssira, Helen;
- Isidor, Bertrand;
- Jauch, Anna;
- Joubert, Madeleine;
- Lachmeijer, Augusta M. A.;
- Zweier, Christiane;
- Moog, Ute;
- Kutsche, Kerstin
Publication type:
Article
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
Published in:
2014
By:
- van Rahden, Vanessa A;
- Rau, Isabella;
- Fuchs, Sigrid;
- Kosyna, Friederike K;
- de Almeida Jr, Hiram Larangeira;
- Fryssira, Helen;
- Isidor, Bertrand;
- Jauch, Anna;
- Joubert, Madeleine;
- Lachmeijer, Augusta M A;
- Zweier, Christiane;
- Moog, Ute;
- Kutsche, Kerstin;
- de Almeida, Hiram Larangeira Jr
Publication type:
journal article
HELLP babies link a novel lincRNA to the trophoblast cell cycle.
Published in:
2012
By:
- van Dijk M;
- Thulluru HK;
- Mulders J;
- Michel OJ;
- Poutsma A;
- Windhorst S;
- Kleiverda G;
- Sie D;
- Lachmeijer AM;
- Oudejans CB;
- van Dijk, Marie;
- Thulluru, Hari K;
- Mulders, Joyce;
- Michel, Omar J;
- Poutsma, Ankie;
- Windhorst, Sandra;
- Kleiverda, Gunilla;
- Sie, Daoud;
- Lachmeijer, Augusta M A;
- Oudejans, Cees B M
Publication type:
journal article
HELLP babie s link a novel lincRNA to the trophoblast cell cycle.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 11, p. 4003, doi. 10.1172/JCI65171
By:
- van Dijk, Marie;
- Thulluru, Hari K.;
- Mulders, Joyce;
- Michel, Omar J.;
- Poutsma, Ankie;
- Windhorst, Sandra;
- Kleiverda, Gunilla;
- Sie, Daoud;
- Lachmeijer, Augusta M. A.;
- Oudejans, Cees B. M.
Publication type:
Article
Etiology and pathogenesis of robin sequence in a large Dutch cohort.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1983, doi. 10.1002/ajmg.a.37154
By:
- Basart, Hanneke;
- Paes, Emma C.;
- Maas, Saskia M.;
- van den Boogaard, Marie‐Jose H.;
- van Hagen, Johanna M.;
- Breugem, Corstiaan C.;
- Cobben, Jan Maarten;
- Don Griot, J. Peter W.;
- Lachmeijer, Augusta M. A.;
- Lichtenbelt, Klaske D.;
- van Nunen, Daan P. F.;
- van der Horst, Chantal M.;
- Hennekam, Raoul C.
Publication type:
Article
Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family.
Published in:
Nature Genetics, 2005, v. 37, n. 5, p. 514, doi. 10.1038/ng1541
By:
- van Dijk, Marie;
- Mulders, Joyce;
- Poutsma, Ankie;
- Könst, Andrea A M;
- Lachmeijer, Augusta M A;
- Dekker, Gustaaf A;
- Blankenstein, Marinus A;
- Oudejans, Cees B M
Publication type:
Article
Concordance for pre-eclampsia in monozygous twins.
Published in:
BJOG: An International Journal of Obstetrics & Gynaecology, 1998, v. 105, n. 12, p. 1315, doi. 10.1111/j.1471-0528.1998.tb10012.x
By:
- Lachmeijer, A. M. A.;
- Aarnoudse, J. G.;
- Kate, L. P.;
- Pals, G.;
- Dekker, G. A.
Publication type:
Article
Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1345, doi. 10.1038/ejhg.2014.32
By:
- van Schendel, Rachèl V;
- Kleinveld, Johanna H;
- Dondorp, Wybo J;
- Pajkrt, Eva;
- Timmermans, Danielle R M;
- Holtkamp, Kim C A;
- Karsten, Margreet;
- Vlietstra, Anne L;
- Lachmeijer, Augusta M A;
- Henneman, Lidewij
Publication type:
Article
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 9, p. 999, doi. 10.1038/ejhg.2010.70
By:
- Paulussen, Aimée D. C.;
- Schrander-Stumpel, Constance T.;
- Tserpelis, Demis C. J.;
- Spee, Matteus K. M.;
- Stegmann, Alexander P. A.;
- Mancini, Grazia M.;
- Brooks, Alice S.;
- Collée, Margriet;
- Maat-Kievit, Anneke;
- Simon, Marleen E. H.;
- van Bever, Yolande;
- Stolte-Dijkstra, Irene;
- Kerstjens-Frederikse, Wilhelmina S.;
- Herkert, Johanna C.;
- van Essen, Anthonie J.;
- Lichtenbelt, Klaske D.;
- van Haeringen, Arie;
- Kwee, Mei L.;
- Lachmeijer, Augusta M. A.;
- Tan-Sindhunata, Gita M. B.
Publication type:
Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Published in:
2009
By:
- Van Dijk, Fleur S.;
- Nesbitt, Isabel M.;
- Nikkels, Peter G. J.;
- Dalton, Ann;
- Bongers, Ernie M. H. F.;
- van de Kamp, Jiddeke M.;
- Hilhorst-Hofstee, Yvonne;
- Den Hollander, Nicolette S.;
- Lachmeijer, Augusta M. A.;
- Marcelis, Carlo L.;
- Tan-Sindhunata, Gita M. B.;
- van Rijn, Rick R.;
- Meijers-Heijboer, Hanne;
- Cobben, Jan M.;
- Pals, Gerard
Publication type:
Correction Notice
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
By:
- Van Dijk, Fleur S.;
- Nesbitt, Isabel M.;
- Nikkels, Peter G. J.;
- Dalton, Ann;
- Bongers, Ernie M. H. F.;
- van de Kamp, Jiddeke M.;
- Hilhorst-Hofstee, Yvonne;
- Den Hollander, Nicolette S.;
- Lachmeijer, Augusta M. A.;
- Marcelis, Carlo L.;
- Tan-Sindhunata, Gita M. B.;
- van Rijn, Rick R.;
- Meijers-Heijboer, Hanne;
- Cobben, Jan M.;
- Pals, Gerard
Publication type:
Article
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 22, doi. 10.1002/ajmg.a.33783
By:
- Milunsky, Jeff M.;
- Maher, Tom M.;
- Zhao, Geping;
- Wang, Zhenyuan;
- Mulliken, John B.;
- Chitayat, David;
- Clemens, Michele;
- Stalker, Heather J.;
- Bauer, Mislen;
- Burch, Michele;
- Chénier, Sébastien;
- Cunningham, Michael L.;
- Drack, Arlene V.;
- Janssens, Sandra;
- Karlea, Audrey;
- Klatt, Regan;
- Kini, Usha;
- Klein, Ophir;
- Lachmeijer, Augusta M.;
- Megarbane, Andre
Publication type:
Article
NIPT-based screening for Down syndrome and beyond: what do pregnant women think?
Published in:
Prenatal Diagnosis, 2015, v. 35, n. 6, p. 598, doi. 10.1002/pd.4579
By:
- Schendel, Rachèl V.;
- Dondorp, Wybo J.;
- Timmermans, Danielle R. M.;
- Hugte, Eline J. H.;
- Boer, Anne;
- Pajkrt, Eva;
- Lachmeijer, Augusta M. A.;
- Henneman, Lidewij
Publication type:
Article
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
Published in:
Prenatal Diagnosis, 2010, v. 30, n. 3, p. 284, doi. 10.1002/pd.2458
By:
- Houweling, A. C.;
- de Mooij, Y. M.;
- van der Burgt, I.;
- Yntema, H. G.;
- Lachmeijer, A. M. A.;
- Go, A. T. J. I.
Publication type:
Article
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 2130, doi. 10.1002/humu.24487
By:
- Douben, Hannie C. W.;
- Nellist, Mark;
- van Unen, Leontine;
- Elfferich, Peter;
- Kasteleijn, Esmee;
- Hoogeveen‐Westerveld, Marianne;
- Louwen, Jesse;
- van Veghel‐Plandsoen, Monique;
- de Valk, Walter;
- Saris, Jasper J.;
- Hendriks, Femke;
- Korpershoek, Esther;
- Hoefsloot, Lies H.;
- van Vliet, Margreethe;
- van Bever, Yolande;
- van de Laar, Ingrid;
- Aten, Emmelien;
- Lachmeijer, Augusta M. A.;
- Taal, Walter;
- van den Bersselaar, Lisa
Publication type:
Article
De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
Published in:
Human Mutation, 2018, v. 39, n. 7, p. 1014, doi. 10.1002/humu.23541
By:
- Stevens, Servi J. C.;
- van der Schoot, Vyne;
- Leduc, Magalie S.;
- Rinne, Tuula;
- Lalani, Seema R.;
- Weiss, Marjan M.;
- van Hagen, Johanna M.;
- Lachmeijer, Augusta M. A.;
- CAUSES Study;
- Stockler‐Ipsiroglu, Sylvia G.;
- Lehman, Anna;
- Brunner, Han G.
Publication type:
Article
A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 9, p. 1799, doi. 10.1093/hmg/8.9.1799
By:
- Arngrimsson, Reynir;
- Siguroardottir, Sigrun;
- Frigge, Michael L.;
- Bjarnadottir, Ragnheiour I.;
- Jonsson, Thorlakur;
- Stefansson, Hreinn;
- Baldursdottir, Asdis;
- Einarsdottir, Anna S.;
- Palsson, Birgir;
- Snorradottir, Steinunn;
- Lachmeijer, A. M. A.;
- Nicolae, Dan;
- Kong, Augustine;
- Bragason, Birkir Thor;
- Gulcher, Jeffrey R.;
- Geirsson, Reynir Tomas;
- Stefansson, Kari
Publication type:
Article

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