Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis
Perdu, B, Lakeman, P, Mortier, G, Koenig, R, Lachmeijer, AMA, Van Hul, W
Published in Clinical genetics (01.10.2011)
Published in Clinical genetics (01.10.2011)
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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
Stevens, Servi J.C., der Schoot, Vyne, Leduc, Magalie S., Rinne, Tuula, Lalani, Seema R., Weiss, Marjan M., Hagen, Johanna M., Lachmeijer, Augusta M.A., Stockler‐Ipsiroglu, Sylvia G., Lehman, Anna, Brunner, Han G
Published in Human mutation (01.07.2018)
Published in Human mutation (01.07.2018)
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A Genome-Wide Scan Reveals a Maternal Susceptibility Locus for Pre-Eclampsia on Chromosome 2p13
Arngrímsson, Reynir, Siguróaróóttir, Sigrún, Frigge, Michael L., Bjarnaóóttir, Ragnheióur I., Jónsson, Thorlákur, Stefánsson, Hreinn, Baldursdóttir, Ásdís, Einarsdóttir, Anna S., Palsson, Birgir, Snorradôttir, Steinunn, Lachmeijer, A. M. A., Nicolae, Dan, Kong, Augustine, Bragason, Birkir Thor, Gulcher, Jeffrey R., Geirsson, Reynir Tómas, Stefánsson, Kári
Published in Human molecular genetics (01.09.1999)
Published in Human molecular genetics (01.09.1999)
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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Hijazi, Hadia, Reis, Linda M., Pehlivan, Davut, Bernstein, Jonathan A., Muriello, Michael, Syverson, Erin, Bonner, Devon, Estiar, Mehrdad A., Gan-Or, Ziv, Rouleau, Guy A., Lyulcheva, Ekaterina, Greenhalgh, Lynn, Tessarech, Marine, Colin, Estelle, Guichet, Agnès, Bonneau, Dominique, van Jaarsveld, R.H., Lachmeijer, A.M.A., Ruaud, Lyse, Levy, Jonathan, Tabet, Anne-Claude, Ploski, Rafal, Rydzanicz, Małgorzata, Kępczyński, Łukasz, Połatyńska, Katarzyna, Li, Yidan, Fatih, Jawid M., Marafi, Dana, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Bi, Weimin, Gibbs, Richard A., Hobson, Grace M., Hunter, Jill V., Carvalho, Claudia M.B., Posey, Jennifer E., Semina, Elena V., Lupski, James R.
Published in American journal of human genetics (01.12.2022)
Published in American journal of human genetics (01.12.2022)
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A genome-wide scan for preeclampsia in the Netherlands
Lachmeijer, A M, Arngrímsson, R, Bastiaans, E J, Frigge, M L, Pals, G, Sigurdardóttir, S, Stéfansson, H, Pálsson, B, Nicolae, D, Kong, A, Aarnoudse, J G, Gulcher, J R, Dekker, G A, ten Kate, L P, Stéfansson, K
Published in European journal of human genetics : EJHG (01.10.2001)
Published in European journal of human genetics : EJHG (01.10.2001)
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Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
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
Published in Clinical genetics (01.11.2008)
Published in Clinical genetics (01.11.2008)
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Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening
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
Published in European journal of human genetics : EJHG (01.12.2014)
Published in European journal of human genetics : EJHG (01.12.2014)
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Journal Article
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cogné, Benjamin, Dallapiccola, Bruno, Distelmaier, Felix, Elmslie, Frances, Faivre, Laurence, Haack, Tobias B., Harrison, Victoria, Henderson, Alex, Hunt, David, Isidor, Bertrand, Joset, Pascal, Kumada, Satoko, Lachmeijer, Augusta M.A., Lees, Melissa, Lynch, Sally Ann, Martinez, Francisco, Matsumoto, Naomichi, McDougall, Carey, Mefford, Heather C., Miyake, Noriko, Myers, Candace T., Moutton, Sébastien, Nesbitt, Addie, Novelli, Antonio, Orellana, Carmen, Rauch, Anita, Rosello, Monica, Saida, Ken, Santani, Avni B., Sarkar, Ajoy, Scheffer, Ingrid E., Shinawi, Marwan, Steindl, Katharina, Symonds, Joseph D., Zackai, Elaine H., Reis, André, Sticht, Heinrich, Zweier, Christiane
Published in American journal of human genetics (02.08.2018)
Published in American journal of human genetics (02.08.2018)
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High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
Douben, Hannie C. W., Nellist, Mark, Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, Hoogeveen‐Westerveld, Marianne, Louwen, Jesse, Veghel‐Plandsoen, Monique, Valk, Walter, Saris, Jasper J., Hendriks, Femke, Korpershoek, Esther, Hoefsloot, Lies H., Vliet, Margreethe, Bever, Yolande, Laar, Ingrid, Aten, Emmelien, Lachmeijer, Augusta M. A., Taal, Walter, Bersselaar, Lisa, Schuurmans, Juliette, Oostenbrink, Rianne, Minkelen, Rick, Ierland, Yvette, Ham, Tjakko J.
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth
Revencu, N., Boon, L.M., Dompmartin, A., Rieu, P., Busch, W.L., Dubois, J., Forzano, F., van Hagen, J.M., Halbach, S., Kuechler, A., Lachmeijer, A.M.A., Lähde, J., Russell, L., Simola, K.O.J., Mulliken, J.B., Vikkula, M.
Published in Molecular syndromology (01.04.2013)
Published in Molecular syndromology (01.04.2013)
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Journal Article
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
White, Susan M., Bhoj, Elizabeth, Nellåker, Christoffer, Lachmeijer, Augusta M.A., Marshall, Aren E., Boycott, Kym M., Li, Dong, Smith, Wendy, Hartley, Taila, McBride, Arran, Ernst, Michelle E., May, Alison S., Wieczorek, Dagmar, Abou Jamra, Rami, Koch-Hogrebe, Margarete, Õunap, Katrin, Pajusalu, Sander, van Gassen, K.L.I., Sadedin, Simon, Ellingwood, Sara, Tan, Tiong Yang, Christodoulou, John, Barea, Jaime, Lockhart, Paul J., Nezarati, Marjan M., Kernohan, Kristin D.
Published in American journal of human genetics (01.04.2021)
Published in American journal of human genetics (01.04.2021)
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Journal Article
Concordance for pre‐eclampsia in monozygous twins
Lachmeijer, A. M. A., Aarnoudse, J. G., Kate, L. P., Pals, G., Dekker, G. A.
Published in BJOG : an international journal of obstetrics and gynaecology (01.12.1998)
Published in BJOG : an international journal of obstetrics and gynaecology (01.12.1998)
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NIPT-based screening for Down syndrome and beyond: what do pregnant women think?
van Schendel, Rachèl V., Dondorp, Wybo J., Timmermans, Danielle R. M., van Hugte, Eline J. H., de Boer, Anne, Pajkrt, Eva, Lachmeijer, Augusta M. A., Henneman, Lidewij
Published in Prenatal diagnosis (01.06.2015)
Published in Prenatal diagnosis (01.06.2015)
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Journal Article
Etiology and pathogenesis of robin sequence in a large Dutch cohort
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.
Published in American journal of medical genetics. Part A (01.09.2015)
Published in American journal of medical genetics. Part A (01.09.2015)
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Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family
Oudejans, Cees B M, van Dijk, Marie, Mulders, Joyce, Poutsma, Ankie, Könst, Andrea A M, Lachmeijer, Augusta M A, Dekker, Gustaaf A, Blankenstein, Marinus A
Published in Nature genetics (01.05.2005)
Published in Nature genetics (01.05.2005)
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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
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
Published in Orphanet journal of rare diseases (15.04.2014)
Published in Orphanet journal of rare diseases (15.04.2014)
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Journal Article
Polymorphisms in the Tumor Necrosis Factor and Lymphotoxin-α Gene Region and Preeclampsia
Lachmeijer, Augusta M. A, Crusius, J Bart A, Pals, Gerard, Dekker, Guustaaf A, Arngrímsson, Reynir, ten Kate, Leo P
Published in Obstetrics and gynecology (New York. 1953) (01.10.2001)
Published in Obstetrics and gynecology (New York. 1953) (01.10.2001)
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HELLP babies link a novel lincRNA to the trophoblast cell cycle
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
Published in The Journal of clinical investigation (01.11.2012)
Published in The Journal of clinical investigation (01.11.2012)
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