Search Results - "Ilgun, Aho"

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms by van Walree, Eva S., Dombrowsky, Gregor, Jansen, Iris E., Mirkov, Maša Umićević, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B., Amin, Ahmed S., Savage, Jeanne E., van der Wal, Allard C., Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu’Lock, Frances A., Hurles, Matthew E., Dittrich, Sven, Berger, Felix, Audain Martinez, Enrique, Christoffels, Vincent M., Hitz, Marc-Philip, Milewicz, Dianna M., Posthuma, Daniëlle, Meijers-Heijboer, Hanne, Postma, Alex V., Mathijssen, Inge B.

“…In this study we aimed to establish the genetic cause of a myriad of cardiovascular defects prevalent in individuals from a genetically isolated population,…”
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TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy by Alaamery, Manal, Albesher, Nour, Alhabshan, Fahad, Barnett, Phil, Salim Kabbani, Mohamed, Chaikhouni, Farah, Ilgun, Aho, Mook, Olaf R. F., Alsaif, Hessa, Christoffels, Vincent M., van Tintelen, Peter, Wilde, Arthur A. M., Houweling, Arjan C., Massadeh, Salam, Postma, Alex V.

“…Background: Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants…”
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The ambiguous role of NKX2-5 mutations in thyroid dysgenesis by van Engelen, Klaartje, Mommersteeg, Mathilda T M, Baars, Marieke J H, Lam, Jan, Ilgun, Aho, van Trotsenburg, A S Paul, Smets, Anne M J B, Christoffels, Vincent M, Mulder, Barbara J M, Postma, Alex V

“…NKX2-5 is a homeodomain-containing transcription factor implied in both heart and thyroid development. Numerous mutations in NKX2-5 have been reported in…”
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Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension by Postma, Alex V., Rapp, Christina K., Knoflach, Katrin, Volk, Alexander E., Lemke, Johannes R., Ackermann, Maximilian, Regamey, Nicolas, Latzin, Philipp, Celant, Lucas, Jansen, Samara M.A., Bogaard, Harm J., Ilgun, Aho, Alders, Mariëlle, van Spaendonck-Zwarts, Karin Y., Jonigk, Danny, Klein, Christoph, Gräf, Stefan, Kubisch, Christian, Houweling, Arjan C., Griese, Matthias

“…The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated…”
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Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries by Škorić-Milosavljević, Doris, Tadros, Rafik, Bosada, Fernanda M., Tessadori, Federico, van Weerd, Jan Hendrik, Woudstra, Odilia I., Tjong, Fleur V.Y., Lahrouchi, Najim, Bajolle, Fanny, Cordell, Heather J., Agopian, A. J., Blue, Gillian M., Barge-Schaapveld, Daniela Q.C.M., Gewillig, Marc, Preuss, Christoph, Lodder, Elisabeth M., Barnett, Phil, Ilgun, Aho, Beekman, Leander, van Duijvenboden, Karel, Bokenkamp, Regina, Müller-Nurasyid, Martina, Vliegen, Hubert W., Konings, Thelma C., van Melle, Joost P., van Dijk, Arie P.J., van Kimmenade, Roland R.J., Roos-Hesselink, Jolien W., Sieswerda, Gertjan T., Meijboom, Folkert, Abdul- Khaliq, Hashim, Berger, Felix, Dittrich, Sven, Hitz, Marc-Phillip, Moosmann, Julia, Riede, Frank-Thomas, Schubert, Stephan, Galan, Pilar, Lathrop, Mark, Munter, Hans M., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Evans, Sylvia, Nobrega, Marcelo A., Aneas, Ivy, Radivojkov-Blagojević, Milena, Meitinger, Thomas, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John F., Altamirano-Diaz, Luis, Lougheed, Jane, Bouma, Berto J., Chaix, Marie-A., Kline, Jennie, Bassett, Anne S., Andelfinger, Gregor, van der Palen, Roel L.F., Bouvagnet, Patrice, Clur, Sally-Ann B., Breckpot, Jeroen, Kerstjens-Frederikse, Wilhelmina S., Winlaw, David S., Bauer, Ulrike M.M., Mital, Seema, Goldmuntz, Elizabeth, Keavney, Bernard, Bonnet, Damien, Mulder, Barbara J., Tanck, Michael W.T., Bakkers, Jeroen, Christoffels, Vincent M., Boogerd, Cornelis J., Postma, Alex V., Bezzina, Connie R.

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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot by Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V.Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R.

“…Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot…”
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ITGFBR1/I Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy by Alaamery, Manal, Albesher, Nour, Alhabshan, Fahad, Barnett, Phil, Salim Kabbani, Mohamed, Chaikhouni, Farah, Ilgun, Aho, Mook, Olaf R. F, Alsaif, Hessa, Christoffels, Vincent M, van Tintelen, Peter, Wilde, Arthur A. M, Houweling, Arjan C, Massadeh, Salam, Postma, Alex V

“…Background: Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants…”
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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms by van Walree, Eva S., Dombrowsky, Gregor, Jansen, Iris E., Umićević Mirkov, Maša, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B., Amin, Ahmed S., Savage, Jeanne E., van der Wal, Allard C., Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu'Lock, Frances A., Hurles, Matthew E., Dittrich, Sven, Berger, Felix, Audain Martinez, Enrique, Christoffels, Vincent M., Hitz, Marc-Philip, Milewicz, Dianna M., Posthuma, Daniëlle, Meijers-Heijboer, Hanne, Postma, Alex V., Mathijssen, Inge B.

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Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot by Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V.Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R.

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A Gain-of-Function TBX5 Mutation Is Associated With Atypical Holt–Oram Syndrome and Paroxysmal Atrial Fibrillation by Postma, Alex V, van de Meerakker, Judith B.A, Mathijssen, Inge B, Barnett, Phil, Christoffels, Vincent M, Ilgun, Aho, Lam, Jan, Wilde, Arthur A.M, Deprez, Ronald H. Lekanne, Moorman, Antoon F.M

“…Holt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac malformations. Mutations in T-box transcription factor 5…”
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A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects by Mohan, Rajiv A., van Engelen, Klaartje, Stefanovic, Sonia, Barnett, Phil, Ilgun, Aho, Baars, Marieke J.H., Bouma, Berto J., Mulder, Barbara J.M., Christoffels, Vincent M., Postma, Alex V.

“…Atrial septal defect (ASD) is the most common congenital heart defect clinically characterized by an opening in the atrial septum. Mutations in GATA4, TBX5,…”
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A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding by van de Meerakker, Judith B.A., Christiaans, Imke, Barnett, Phil, Lekanne Deprez, Ronald H., Ilgun, Aho, Mook, Olaf R.F., Mannens, Marcel M.A.M., Lam, Jan, Wilde, Arthur A.M., Moorman, Antoon F.M., Postma, Alex V.

“…Background: Dilated cardiomyopathy (DCM) is characterized by idiopathic dilatation and systolic contractile dysfunction of the ventricle(s) leading to an…”
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Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome by Boogerd, Cornelis J.J., Dooijes, Dennis, Ilgun, Aho, Mathijssen, Inge B., Hordijk, Roel, van de Laar, Ingrid M.B.H., Rump, Patrick, Veenstra-Knol, Hermine E., Moorman, Antoon F.M., Barnett, Phil, Postma, Alex V.

“…Aims Holt–Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac malformations. Mutations in T-box transcription…”
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