Rezultati pretrage - Amber Begtrup

Detaljiziraj rezultate
  1. 1
    Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

    Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood od Simon Edvardson, Claudia M. Nicolae, Pankaj B. Agrawal, Cyril Mignot, Katelyn Payne, Asuri N. Prasad, Chitra Prasad, Laurie S. Sadler, Caroline Nava, Thomas E. Mullen, Amber Begtrup, Berivan Baskin, Zöe Powis, Avraham Shaag, Boris Keren, George‐Lucian Moldovan, Orly Elpeleg

    Izdano 2017
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  2. 2
    Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

    Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder od Peter Huppke, Susann Weißbach, Joseph A. Church, Rhonda E. Schnur, Martina Krusen, Steffi Dreha‐Kulaczewski, W. Nikolaus Kühn‐Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Hölger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner

    Izdano 2017
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  3. 3
    TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

    TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism od Yoshiro Suzuki, David Chitayat, Hirotake Sawada, Matthew A. Deardorff, Heather M. McLaughlin, Amber Begtrup, Kathryn Millar, Jennifer Harrington, Karen Chong, Maian Roifman, Katheryn Grand, Makoto Tominaga, Fumio Takada, Shirley Shuster, Megumi Obara, H. Mutoh, Reiko Kushima, Gen Nishimura

    Izdano 2018
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  4. 4
    Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

    Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects od Lia Boyle, Mirjam M. C. Wamelink, Gajja S. Salomons, Birthe Roos, Ana Pop, Andrew Dauber, Vivian Hwa, Melissa Andrew, Jessica Douglas, Murray Feingold, Nancy Kramer, Sulagna C. Saitta, Kyle Retterer, Megan T. Cho, Amber Begtrup, Kristin G. Monaghan, Julia Wynn, Wendy K. Chung

    Izdano 2016
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  5. 5
    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis

    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis od Yavuz Bayram, Janson J. White, Nursel Elçioğlu, Megan T. Cho, Neda Zadeh, Asuman Gedikbaşı, Şükrü Palanduz, Şükrü Öztürk, Kıvanç Çefle, Özgür Kasapçopur, Zeynep Coban‐Akdemir, Davut Pehli̇van, Amber Begtrup, Claudia M.B. Carvalho, Ingrid S. Paine, Ali Menteş, Kıvanç Bektaş Kayhan, Ender Karaca, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Izdano 2017
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  6. 6
    Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

    Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience od C. Alexander Valencia, Ammar Husami, Jennifer Holle, Judith A. Johnson, Yaping Qian, Abhinav Mathur, Chao Wei, Subba Rao Indugula, Fanggeng Zou, Haiying Meng, Lijun Wang, Xia Li, Rachel S. Fisher, Tony Tan, Amber Begtrup, Kathleen Collins, Katie Wusik, Derek Neilson, Thomas Andrew Burrow, Elizabeth K. Schorry, Robert J. Hopkin, Mehdi Keddache, John B. Harley, Kenneth M. Kaufman, Kejian Zhang

    Izdano 2015
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  7. 7
    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy od Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, C. Paris, Jessica Douglas, Gaëtan Lesca, Stylianos E. Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, C. Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin‐Robinet, Jean‐Baptiste Rivière, Laurence Faivre, Julien Thévenon

    Izdano 2016
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  8. 8
    Loss-of-function variants in <i>MYCBP2</i> cause neurobehavioural phenotypes and corpus callosum defects

    Loss-of-function variants in <i>MYCBP2</i> cause neurobehavioural phenotypes and corpus callosum defects od Lama AlAbdi, Muriel Desbois, Domnița-Valeria Rusnac, Raashda A. Sulaiman, Jill A. Rosenfeld, Seema R. Lalani, David R. Murdock, Lindsay C. Burrage, Ping Yee Billie Au, Shelley Towner, William G. Wilson, Ka Sing Wong, Theresa Brunet, Gertrud Strobl‐Wildemann, Jennifer Burton, George Hoganson, Kirsty McWalter, Amber Begtrup, Yuri A. Zárate, Elyse Christensen, Karla J. Opperman, Andrew C. Giles, Rana Helaby, Artur Kania, Ning Zheng, Brock Grill, Fowzan S. Alkuraya

    Izdano 2022
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  9. 9
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants od Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    Izdano 2018
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  10. 10
    Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)

    Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update) od Dirk Roos, Karin van Leeuwen, Amy P. Hsu, Debra Long Priel, Amber Begtrup, Rhonda Brandon, Amit Rawat, Pandiarajan Vignesh, Manisha Madkaikar, Marie José Stasia, Faris G. Bakri, Martin de Boer, Joachim Roesler, Nezihe Köker, Mustafa Yavuz Köker, Marianne Antonius Jakobsen, Jacinta Bustamante, María Bravo García‐Morato, Juan Luis Valdivieso Shephard, Deniz Çağdaş, İlhan Tezcan, Roya Sherkat, Esmaeil Mortaz, Abbas Fayezi, Mohammad Shahrooei, Baruch Wolach, Lizbeth Blancas‐Galicia, Hirokazu Kanegane, Toshinao Kawai, Antônio Condino‐Neto, Mauno Vihinen, Christa S. Zerbe, Steven M. Holland, Harry L. Malech, John I. Gallin, Douglas B. Kuhns

    Izdano 2021
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  11. 11
    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features od Cara Skraban, Constance Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, Ping Yee Billie Au, Amber Begtrup, John Bernat, Lynne M. Bird, Kajia Cao, Arjan P.M. de Brouwer, Elizabeth Denenberg, Ganka Douglas, Kristin McDonald Gibson, Katheryn Grand, Alice Goldenberg, A. Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David Markie, Martina Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire Turner, Nienke E. Verbeek, Laurence E. Walsh, Taylor Warner, Patricia G. Wheeler, Dagmar Wieczorek, Alisha Wilkens, Evelien Zonneveld‐Huijssoon, Tjitske Kleefstra, Stephen P. Robertson, Avni Santani, Koen L.I. van Gassen, Matthew A. Deardorff

    Izdano 2017
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  12. 12
    POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

    POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies od Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P Adam, Amber Begtrup, Débora Romeo Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, María J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussmann, Roger L. Ladda, Lisa A. Lansdon, Sebastian Lunke, Anne H. Mardy, Kirsty McWalters, Richard Person, Laura Raiti, Noriko Saitoh, Carol Saunders, Rhonda E. Schnur, Matěj Škorvánek, Susan L. Sell, Anne Slavotinek, Bonnie Sullivan, Zornitza Stark, Joseph D. Symonds, Tara Wenger, Sacha Weber, Sandra Whalen, Susan M. White, Juliane Winkelmann, Michael Zech, Shimriet Zeidler, Kazuhiro Maeshima, Rolf W. Stottmann, Paul A. Trainor, K. Nicole Weaver

    Izdano 2023
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  13. 13
    Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

    Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size od Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios A. Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anagnostou, Meron Azage, Renee Bend, Amber Begtrup, Natasha J. Brown, Benjamin Büttner, Megan T. Cho, Gregory M. Cooper, Jan H Doering, Christèle Dubourg, David B. Everman, Michael S. Hildebrand, Francis Jeshira Reynoso Santos, Barbara Kellam, Jennifer Keller‐Ramey, Johannes R. Lemke, Shuxi Liu, Dmitriy Niyazov, Katelyn Payne, Richard Person, Chloé Quēlin, Rhonda E. Schnur, Brooke Smith, Jonathan B. Strober, Susan Walker, Mathew Wallis, Laurence E. Walsh, Sandra Yang, Ryan K. C. Yuen, Andreas Ziegler, Heinrich Sticht, Michael C. Pride, Lori Orosco, Verónica Martínez‐Cerdeño, Jill L. Silverman, Jacqueline N. Crawley, Stephen W. Scherer, Konstantinos S. Zarbalis, Rami Abou Jamra

    Izdano 2019
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  14. 14
    New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

    New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics od Anaïs Begemann, Heinrich Sticht, Amber Begtrup, Antonio Vitobello, Laurence Faivre, Siddharth Banka, Bader Alhaddad, Reza Asadollahi, Jessica Becker, Tatjana Bierhals, Kathleen Brown, Ange‐Line Bruel, Theresa Brunet, Maryline Carneiro, Kirsten Cremer, Robert C. Day, Anne‐Sophie Denommé‐Pichon, Dave A. Dyment, Hartmut Engels, Rachel S. Fisher, Elaine Goh, M.J. Hajianpour, Lucia Ribeiro Machado Haertel, Nadine Hauer, Maja Hempel, Theresia Herget, Jessika Johannsen, Cornelia Kraus, Gwenaël Le Guyader, Gaëtan Lesca, Frédéric Tran Mau‐Them, John McDermott, Kirsty McWalter, Pierre Meyer, Katrin Õunap, Bernt Popp, Tiia Reimand, Korbinian M. Riedhammer, Martina Russo, Lynette G. Sadleir, Margarita Sáenz, Manuel Schiff, Elisabeth Schuler, Steffen Syrbe, Amelie T. van der Ven, Alain Verloès, Marjolaine Willems, Christiane Zweier, Katharina Steindl, Markus Zweier, Anita Rauch

    Izdano 2020
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  15. 15
    Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

    Mutations in TOP3A Cause a Bloom Syndrome-like Disorder od Carol-Anne Martin, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David Parry, Anna H. Bizard, Andrea Leitch, Louise Cleal, Nadia Shaukat Ali, Mohammed Al‐Owain, William Allen, Janine Altmüller, Miriam Aza‐Carmona, Bushra A.Y. Barakat, Jimena Barraza‐García, Amber Begtrup, Massimo Bogliolo, Megan T. Cho, Jaime Cruz‐Rojo, Hassan Ali Mundi Dhahrabi, Nursel Elçioğlu, Gráinne S. Gorman, Rebekah Jobling, Ian Kesterton, Yoshihito Kishita, Masakazu Kohda, Polona Le Quesne Stabej, Asam Jassim Malallah, Peter Nürnberg, Akira Ohtake, Yasushi Okazaki, Roser Pujol, Marı́a José Ramı́rez, Anya Revah‐Politi, Masaru Shimura, Paul E. Stevens, Robert W. Taylor, Lesley Turner, Hywel Williams, Carolyn M. Wilson, Gökhan Yigit, Laura Zahavich, Fowzan S. Alkuraya, Jordi Surrallés, Alejandro Iglesias, Kei Murayama, Bernd Wollnik, Mehul Dattani, Karen E. Heath, Ian D. Hickson, Andrew P. Jackson

    Izdano 2018
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  16. 16
    Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

    Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation od Zain Dardas, Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay, Bobby G. Ng, Kanae Sano, Amr S. Saad, Haowei Du, Riccardo Sangermano, Sohil G Patankar, Shalini N. Jhangiani, Semra Gürsoy, Mohamed S. Abdel‐Hamid, Mahmoud K.H. Ahmed, Reza Maroofian, Rauan Kaiyrzhanov, Kamran Salayev, Wendy D Jones, Armando Caballero, Lucy McGavin, Michael W. Spiller, Miranda Durkie, Nicholas Wood, Lauren O’Grady, Paula Goldenberg, Ann M. Neumeyer, Amber Begtrup, Sherif F. Abdel‐Ghafar, Maha S. Zaki, Hilde Van Esch, Jennifer E. Posey, Olivia Wenger, Ethan M. Scott, Kinga M. Bujakowska, Richard A. Gibbs, Davut Pehli̇van, Dana Marafi, Joseph S. Leslie, Nishanka Ubeyratna, Jacob Day, Martina Owens, Jessica Settle, Soher Balkhy, Abdullah Tamim, Lama AlAbdi, Fowzan S. Alkuraya, Yoichi Takeda, Hudson H. Freeze, Daniel N. Hebert, James R. Lupski, Andrew H. Crosby, Emma L. Baple

    Izdano 2025
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  17. 17
    A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

    A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis od Heather E. Olson, Nolwenn Jean‐Marçais, Edward Yang, Delphine Héron, Katrina Tatton‐Brown, Paul A. van der Zwaag, Emilia K. Bijlsma, Bryan L. Krock, E. De Backer, Erik‐Jan Kamsteeg, Margje Sinnema, Margot R.F. Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J. Lunsing, Lydie Bürglen, Gaëtan Lesca, Megan T. Cho, Lacey Smith, Beth Rosen Sheidley, Christelle Moufawad El Achkar, Phillip L. Pearl, Annapurna Poduri, Cara Skraban, Jennifer Tarpinian, Addie I. Nesbitt, Dietje E. Fransen van de Putte, Claudia Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta de Bellescize, Laurent Guibaud, David A. Sweetser, Jessica L. Waxler, Klaas J. Wierenga, Jean Donadieu, Vinodh Narayanan, Keri Ramsey, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau‐Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H. Lelieveld, Janneke Schuurs-Hoeijmakers, Han G. Brunner, Boris Keren, Julien Thévenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet

    Izdano 2018
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  18. 18
    PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

    PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights od Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac, Nicole I. Wolf, Autumn S. Ivy, Scott Demarest, Yann Roussel, Jolita Čiapaitė, Carlo W.T. van Roermund, Kristin D. Kernohan, Ceres Kosuta, Kevin Ban, Yoko Itō, Skye McBride, Khalid Al‐Thihli, Rana Abdelrahim, Roshan Koul, Amna Al‐Futaisi, Charlotte A. Haaxma, Heather E. Olson, Laufey Yr Sigurdardottir, Georgianne L. Arnold, Erica H. Gerkes, M. E. Boon, M. Rebecca Heiner‐Fokkema, Sandra Noble, Marjolein Bosma, Judith Jans, David A. Koolen, Erik-Jan Kamsteeg, Britt I. Drögemöller, Colin J.D. Ross, Jacek Majewski, Megan T. Cho, Amber Begtrup, Wyeth W. Wasserman, Tuan V. Bui, Elise Brimble, Sara Violante, Sander M. Houten, Ron A. Wevers, Martijn van Faassen, Ido P. Kema, Nathalie Lepage, Matthew A. Lines, David A. Dyment, Ronald J. A. Wanders, Nanda M. Verhoeven‐Duif, Marc Ekker, Kym M. Boycott, Jan M. Friedman, Izabella A. Pena, Clara D.M. van Karnebeek

    Izdano 2018
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  19. 19
    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome od Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, Natalie Hauser, Rebecca L. Belmonte, G. R. Wilson, Daniëlle G.M. Bosch, Paula A. Bubulya, Vandana Shashi, Slavé Petrovski, Joshua K. Stone, Eun Young Park, Joris A. Veltman, Margje Sinnema, Connie T. R. M. Stumpel, Jos Draaisma, Joost Nicolai, Helger G. Yntema, Kristin Lindstrom, Bert B.A. de Vries, Tamison Jewett, Stephanie L. Santoro, Julie Vogt, Kristine Bachman, Andrea Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortüm, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria C. Bramswig, Franco Laccone, Jana Behunova, Helga Rehder, Christopher T. Gordon, Marlène Rio, Serge Romana, Sha Tang, Dima El‐Khechen, Megan T. Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P.A. Stegmann, Servi J.C. Stevens, Dong‐Er Zhang, David Traver, Xu Yao, Daniel G. MacArthur, Han G. Brunner, Grazia M.S. Mancini, R Myers, Laurie B. Owen, Ssang‐Taek Lim, David L. Stachura, Lisenka E.L.M. Vissers, E. Ahn

    Izdano 2016
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  20. 20
    Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

    Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging od Elisabetta Flex, Simone Martinelli, Anke Van Dijck, Andrea Ciolfi, Serena Cecchetti, Elisa Coluzzi, Luca Pannone, C Andreoli, Francesca Clementina Radio, Simone Pizzi, Giovanna Carpentieri, Alessandro Bruselles, Giuseppina Catanzaro, Lucia Pedace, Evelina Miele, Elena Carcarino, Xiaoyan Ge, Chieko Chijiwa, M. E. Suzanne Lewis, Marije Meuwissen, Sandra Kenis, Nathalie Van der Aa, Austin Larson, Kathleen Brown, Melissa Wasserstein, Brian G. Skotko, Amber Begtrup, Richard Person, Maria Karayiorgou, Johannes L. Roos, Koen L.I. van Gassen, Marion Koopmans, Emilia K. Bijlsma, Gijs W.E. Santen, Daniela Q.C.M. Barge‐Schaapveld, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Seema R. Lalani, Haley Streff, William J. Craigen, Brett H. Graham, Annette P.M. van den Elzen, D.J. Kamphuis, Katrin Õunap, Karit Reinson, Sander Pajusalu, Monica H. Wojcik, Clara Viberti, Cornelia Di Gaetano, Enrico Bertini, Simona Petrucci, Alessandro De Luca, Rossella Rota, Elisabetta Ferretti, Giuseppe Matullo, Bruno Dallapiccola, Antonella Sgura, Magdalena Walkiewicz, R. Frank Kooy, Marco Tartaglia

    Izdano 2019
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