Search Results - "Lachmeijer, A"

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions by 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.

“…An Xq22.2 region upstream of PLP1 has been proposed to underly a neurological disease trait when deleted in 46,XX females. Deletion mapping revealed that…”
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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 by 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

“…The role of disturbed chromatin remodeling in the pathogenesis of intellectual disability (ID) is well established and illustrated by de novo mutations found…”
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Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis by Perdu, B, Lakeman, P, Mortier, G, Koenig, R, Lachmeijer, AMA, Van Hul, W

“…Perdu B, Lakeman P, Mortier G, Koenig R, Lachmeijer AMA, Van Hul W. Two novel WTX mutations underscore the unpredictability of male survival in osteopathia…”
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Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes by Houweling, A. C., de Mooij, Y. M., van der Burgt, I., Yntema, H. G., Lachmeijer, A. M. A., Go, A. T. J. I.

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A Genome-Wide Scan Reveals a Maternal Susceptibility Locus for Pre-Eclampsia on Chromosome 2p13 by 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

“…Pre-eclampsia is a common and serious disease and a major cause of maternal and infant mortality. Antenatal care systems world-wide screen for signs of the…”
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Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly by Morris-Rosendahl, DJ, Najm, J, Lachmeijer, AMA, Sztriha, L, Martins, M, Kuechler, A, Haug, V, Zeschnigk, C, Martin, P, Santos, M, Vasconcelos, C, Omran, H, Kraus, U, Van der Knaap, MS, Schuierer, G, Kutsche, K, Uyanik, G

“…Mutations in the α‐1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformations resemblant of classical lissencephaly but with a specific…”
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Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly 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

“…Mutations in the alpha-1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformations resemblant of classical lissencephaly but with a…”
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Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth by 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.

“…The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous…”
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Clinical and Mutational Spectrum of Mowat–Wilson Syndrome by Zweier, Christiane, Thiel, Christian T, Dufke, Andreas, Crow, Yanick J, Meinecke, Peter, Suri, Mohnish, Ala-Mello, Sirpa, Beemer, Frits, Bernasconi, Sergio, Bianchi, Paolo, Bier, Andrea, Devriendt, Koen, Dimitrov, Boyan, Firth, Helen, Gallagher, Renata C, Garavelli, Livia, Gillessen-Kaesbach, Gabriele, Hudgins, Louanne, Kääriäinen, Helena, Karstens, Susan, Krantz, Ian, Mannhardt, Anca, Medne, Livija, Mücke, Jürgen, Kibaek, Maria, Krogh, Lotte Nylandsted, Peippo, Maarit, Rittinger, Olaf, Schulz, Solveig, L Schelley, Susan, Temple, I Karen, Dennis, Nick R, Van der Knaap, Marjo S, Wheeler, Patricia, Yerushalmi, Baruch, Zenker, Martin, Seidel, Heide, Lachmeijer, A, Prescott, Trine, Kraus, Cornelia, Lowry, R Brian, Rauch, Anita

“…Mowat–Wilson Syndrome is a recently delineated mental retardation syndrome usually associated with multiple malformations and a recognizable facial phenotype…”
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BBS10 mutations are common in 'Meckel'-type cystic kidneys by Putoux, Audrey, Mougou-Zerelli, Soumaya, Thomas, Sophie, Elkhartoufi, Nadia, Audollent, Sophie, Le Merrer, Martine, Lachmeijer, Augusta, Sigaudy, Sabine, Buenerd, Annie, Fernandez, Carla, Delezoide, Anne-Lise, Gubler, Marie-Claire, Salomon, Rémi, Saad, Ali, Cordier, Marie-Pierre, Vekemans, Michel, Bouvier, Raymonde, Attie-Bitach, Tania

“…Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, multisystemic disorder characterised by progressive retinal dystrophy, obesity, hypogenitalism,…”
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Identification of two novel WTX mutations in osteopathia striata with cranial sclerosis patients by Perdu, B, Lakeman, P, Lachmeijer, A, Koenig, R, Van Hul, W

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A genome-wide scan for preeclampsia in the Netherlands by 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

“…Preeclampsia, hallmarked by de novo hypertension and proteinuria in pregnancy, has a familial tendency. Recently, a large Icelandic genome-wide scan provided…”
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Change in paternity: a risk factor for preeclampsia in multiparous women? by Tubbergen, P, Lachmeijer, A.M.A, Althuisius, S.M, Vlak, M.E.J, van Geijn, H.P, Dekker, G.A

“…Background: Preeclampsia is often thought of as being a disease of first pregnancies. The incidence of preeclampsia in subsequent pregnancies, after a previous…”
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Concordance for pre‐eclampsia in monozygous twins by Lachmeijer, A. M. A., Aarnoudse, J. G., Kate, L. P., Pals, G., Dekker, G. A.

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Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening 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

“…Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and…”
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Successful Electroconvulsive Therapy in a Patient With Catatonia and a Rare HIVEP2 Mutation by van Mierlo, Hans C., De Wit, Laura E., van Griensven, Jean M.T., Lachmeijer, Augusta M.A.

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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder by 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

“…Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations…”
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High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing by 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.

“…Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the…”
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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome by 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.

“…The DNA damage-binding protein 1 (DDB1) is part of the CUL4–DDB1 ubiquitin E3 ligase complex (CRL4), which is essential for DNA repair, chromatin remodeling,…”
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NIPT-based screening for Down syndrome and beyond: what do pregnant women think? by 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

“…ObjectiveThe aim of the study is to study pregnant women's views on noninvasive prenatal testing (NIPT) for Down syndrome and the potential to test for a…”
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