Výsledky vyhledávání - Małgorzata J.M. Nowaczyk
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Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies Autor Dinah Clark, Ilana Sherer, Matthew A. Deardorff, Janice L. B. Byrne, Kathleen M. Loomes, Małgorzata J.M. Nowaczyk, Laird G. Jackson, Ian D. Krantz
Vydáno 2012Revisão -
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Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse Autor Weimin Bi, Jiong Yan, Paweł Stankiewicz, Sung Sup Park, Katherina Walz, Cornelius F. Boerkoel, Lorraine Potocki, Lisa G. Shaffer, Koenraad Devriendt, Małgorzata J.M. Nowaczyk, Ken Inoue, James R. Lupski
Vydáno 2002Artigo -
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Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome Autor Wendy Y. Craig, James E. Haddow, Glenn E. Palomaki, Richard I. Kelley, Lisa E. Kratz, Cedric Shackleton, Josep Marcos, G S Tint, Andrew R. MacRae, Małgorzata J.M. Nowaczyk, Edward M. Kloza, Mira Irons, Marie Roberson
Vydáno 2006Artigo -
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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant Autor Andrew Dauber, Christelle Golzio, Cécile Guenot, Francine M. Jodelka, Maria Kibæk, Susanne Kjærgaard, Bruno Leheup, Danielle Martinet, Małgorzata J.M. Nowaczyk, Jill A. Rosenfeld, Susan Zeesman, Janice Zunich, J. Beckmann, Joel N. Hirschhorn, Michelle L. Hastings, Sébastien Jacquemont, Nicholas Katsanis
Vydáno 2013Artigo -
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Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure Autor André B. P. Kuilenburg, Doreen Dobritzsch, Rutger Meinsma, Janet Haasjes, Hans R. Waterham, Małgorzata J.M. Nowaczyk, George Maropoulos, Guido Hein, Hermann Kalhoff, J M Kirk, Holger BAASKE, Anne Aukett, John A. Duley, K. P. Ward, Ylva Lindqvist, Albert H. Gennip
Vydáno 2002Artigo -
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Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia Autor Lars Feuk, Aino Kalervo, Marita Lipsanen‐Nyman, Jennifer Skaug, Kazuhiko Nakabayashi, Brenda Finucane, Danielle Hartung, A. Micheil Innes, Batsheva Kerem, Małgorzata J.M. Nowaczyk, Joseph Rivlin, Wendy Roberts, Lili Senman, Anne Summers, Peter Szatmari, Virginia Wong, John B. Vincent, Susan Zeesman, Lucy R. Osborne, Janis Oram Cardy, Juha Kere, Stephen W. Scherer, Katariina Hannula-Jouppi
Vydáno 2006Artigo -
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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A Autor Ian M. Campbell, Svetlana A. Yatsenko, Patricia Hixson, Tyler Reimschisel, Matthew Thomas, William G. Wilson, Usha Dayal, James W. Wheless, Amy Crunk, Cynthia J. Curry, Nicole Parkinson, Leona Fishman, James J. Riviello, Małgorzata J.M. Nowaczyk, Susan Zeesman, Jill A. Rosenfeld, Bassem A. Bejjani, Lisa G. Shaffer, Sau Wai Cheung, James R. Lupski, Paweł Stankiewicz, Fernando Scaglia
Vydáno 2012Artigo -
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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B Autor Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio, Maninder Kaur, Lynette A. Gillis, Dinah Yaeger, Lori Jukofsky, Nora Wasserman, Armand Bottani, Colleen A. Morris, Małgorzata J.M. Nowaczyk, Helga V. Toriello, Michael J. Bamshad, John C. Carey, Eric Rappaport, Shimako Kawauchi, Arthur D. Lander, Anne L. Calof, Hui-hua Li, Marcella Devoto, Laird G. Jackson
Vydáno 2004Artigo -
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Autor James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana M. Jensen, Sarah Collins, Małgorzata J.M. Nowaczyk, Marjorie J. Lindhurst, Katherine Christensen, Stephen R. Braddock, Heather A. Brandling‐Bennett, Raoul C. M. Hennekam, Brian Hon‐Yin Chung, Anna Lehman, John Su, SuYuen Ng, David J. Amor, Jacek Majewski, Les Biesecker, Kym M. Boycott, William B. Dobyns, Mark O’Driscoll, Ute Moog, Laura M. McDonell
Vydáno 2016Artigo -
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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome Autor Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel, Jeremy Schwartzentruber, Chandree L. Beaulieu, Małgorzata J.M. Nowaczyk, Judith Allanson, Chong Ae Kim, Dagmar Wieczorek, Jukka S. Moilanen, Didier Lacombe, Gabriele Gillessen‐Kaesbach, Margo L. Whiteford, Caio Robledo D’Angioli Costa Quaio, Israel Gomy, Débora Romeo Bertola, Beate Albrecht, Konrad Platzer, George McGillivray, Ruobing Zou, D. Ross McLeod, Albert E. Chudley, Bernard N. Chodirker, Janet Marcadier, Jacek Majewski, Dennis E. Bulman, Susan M. White, Kym M. Boycott
Vydáno 2012Artigo -
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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Autor Chelsea Lowther, Marsha Speevak, Christine M. Armour, Elaine Goh, Gail E. Graham, Chumei Li, Susan Zeesman, Małgorzata J.M. Nowaczyk, Lee‐Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H. Jung, Victoria Mok Siu, Manjulata Rajguru, Sharan Goobie, Mark A. Tarnopolsky, Chitra Prasad, Paul T. Dick, Asmaa S. Hussain, Margreet Walinga, Renske G. Reijenga, Matthew J. Gazzellone, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Dimitri J. Stavropoulos, M. Elizabeth McCready, Anne S. Bassett
Vydáno 2016Artigo -
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Autor Nina De Rocker, Sarah Vergult, David A. Koolen, Eva Jacobs, Alexander Hoischen, Susan Zeesman, Birgitte Bang, Frédérique Béna, Nele Bockaert, Ernie M.H.F. Bongers, Thomy de Ravel, Koenraad Devriendt, Sabrina Giglio, Laurence Faivre, Shelagh Joss, Saskia M. Maas, Nathalie Marle, Francesca Novara, Małgorzata J.M. Nowaczyk, Hilde Peeters, Abeltje M. Polstra, Filip Roelens, Carla Rosenberg, Julien Thévenon, Zeynep Tümer, Suzanne Vanhauwaert, Konstantinos Varvagiannis, Andy Willaert, Marjolein H. Willemsen, Marjolaine Willems, Orsetta Zuffardi, Paul Coucke, Frank Speleman, Evan E. Eichler, Tjitske Kleefstra, Björn Menten
Vydáno 2014Artigo -
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Autor Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen, Stanislav S. Kholmanskikh, Brian J. O’Roak, Christian Gilissen, Sabine Gijsen, Christopher T. Sullivan, Susan L. Christian, Omar Abdul‐Rahman, Joan Atkin, Nicolas Chassaing, Valérie Drouin‐Garraud, Andrew E. Fry, Jean‐Pierre Fryns, Karen W. Gripp, Marlies Kempers, Tjitske Kleefstra, Grazia M.S. Mancini, Małgorzata J.M. Nowaczyk, Conny M.A. van Ravenswaaij‐Arts, Tony Roscioli, Michael Marble, Jill A. Rosenfeld, Victoria Mok Siu, Bert B.A. de Vries, Jay Shendure, Alain Verloès, Joris A. Veltman, Han G. Brunner, M. Elizabeth Ross, Daniela T. Pilz, William B. Dobyns
Vydáno 2012Artigo -
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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes Autor Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant, Karen W. Gripp, Carol E. Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, M. Falco, Christina Fels, Marco Fichera, Jesper Graakjær, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene J. Huggins, Roger L. Ladda, Chumei Li, John B. Moeschler, Małgorzata J.M. Nowaczyk, Jillian R. Ozmore, S Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan L. Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark A. Tarnopolsky, Raymond C. Tervo, Anne Chun‐Hui Tsai, Megan Tucker, Stephanie E. Vallee, Ferrin C. Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer, William B. Dobyns
Vydáno 2013Artigo -
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Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Autor Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon, Marjolijn C.J. Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han G. Brunner, Débora Romeo Bertola, Nicolas Chassaing, Albert David, Koenraad Devriendt, Pirayeh Eftekhari, Valérie Drouin‐Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge L. Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela E. Lin, Grazia M.S. Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, G Morin, Marjan M. Nezarati, Małgorzata J.M. Nowaczyk, Jeanette C. Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje W.M. van Bon, Conny van Ravenswaaij, Bruce H. Wainer, Andrew E. Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean‐Baptiste Rivière, William B. Dobyns, Daniela T. Pilz
Vydáno 2014Artigo -
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Autor Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Männik, Arjun Krishnan, M. Elizabeth McCready, Olivier Pichon, Cédric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Currò, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin–Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bućan, Susan Zeesman, Małgorzata J.M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Perrine Charles, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles E. Schwartz, Corrado Romano, Erik A. Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan
Vydáno 2018Artigo -
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A dyadic approach to the delineation of diagnostic entities in clinical genomics Autor Leslie G. Biesecker, Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Hon‐Yin Chung, Robin D. Clark, Timothy C. Cox, Cynthia J. Curry, Mary Beth Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian Glass, John M. Graham, Karen W. Gripp, Chad R. Haldeman‐Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler‐Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda Mirzaa, John J. Mulvihill, Małgorzata J.M. Nowaczyk, Roberta A Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez‐Lara, Laurie H. Seaver, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen‐Hann Tan, Anne Chun‐Hui Tsai, David D. Weaver, Marc S. Williams, Elaine H. Zackai, Yuri A. Zárate
Vydáno 2021Revisão -
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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Autor Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L. Hood, Oana Caluseriu, Jane A. Hurst, Usha Kini, Małgorzata J.M. Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith Allanson, Paolo Balestri, Tawfeg Ben‐Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrèe, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne Hendriks, Delphine Héron, Alexander Hoischen, Engela Honey, Lies H. Hoefsloot, Jennifer Ibrahim, Claire M Jacob, Sarina G. Kant, Chong Ae Kim, Edwin P. Kirk, Nine V.A.M. Knoers, Didier Lacombe, Chung Lee, Ivan F. M. Lo, Luiza Silveira Lucas, Francesca Mari, Verónica Mericq, Jukka S. Moilanen, Sanne Traasdahl Møller, Stéphanie Moortgat, Daniela T. Pilz, Kate Pope, Susan Price, Alessandra Renieri, Joaquim Sá, Jeroen Schoots, Elizabeth Lemos Silveira, Marleen Simon, Anne Slavotinek, I. Karen Temple, Ineke van der Burgt, Bert B.A. de Vries, James D. Weisfeld‐Adams, Margo L. Whiteford, Dagmar Wierczorek, Jan M. Wit, Connie Fung On Yee, Chandree L. Beaulieu, Sue M. White, Dennis E. Bulman, Ernie M.H.F. Bongers, Han G. Brunner, Murray Feingold, Kym M. Boycott
Vydáno 2013Artigo -
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome Autor David A. Dyment, Anne O’Donnell‐Luria, Pankaj B. Agrawal, Zeynep Coban‐Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping Yee Billie Au, Hatip Aydın, Alan H. Beggs, Kaya Bilgüvar, Eric Boerwinkle, Harrison Brand, Catherine A. Brownstein, Steven Buyske, Bernard Chodirker, Jungmin Choi, Albert E. Chudley, Carol L. Clericuzio, Gerald F. Cox, Cynthia J. Curry, Elke de Boer, Bert B.A. de Vries, Kathryn Dunn, Cullen M. Dutmer, Eleina England, Jill A. Fahrner, Bilgen Bilge Geçkinli, Casie A. Genetti, Alper Gezdirici, William T. Gibson, Joseph G. Gleeson, Cheryl R. Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N. Jhangiani, Ender Karaca, Kristin D. Kernohan, Julie Lauzon, M. E. Suzanne Lewis, R. Brian Lowry, Francesc López‐Giráldez, Tara C. Matise, Jennifer McEvoy‐Venneri, Brenda McInnes, Aziz Mhanni, Sixto García Miñaúr, Jukka S. Moilanen, An Nguyen, Małgorzata J.M. Nowaczyk, Jennifer E. Posey, Katrin Õunap, Davut Pehli̇van, Sander Pajusalu, Lynette S. Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L. Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David S. Wargowski, P. Dane Witmer, Isaac Wong, Jinchuan Xing, Maha S. Zaki, Yeting Zhang, Kym M. Boycott, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth Blue, A. Micheil Innes
Vydáno 2020Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Phenotype
Internal medicine
Genome
Mutation
Copy-number variation
Exome sequencing
Exon
Genotype
Missense mutation
Pediatrics
Chromosome
Cohort
Obstetrics
Psychiatry
7-Dehydrocholesterol reductase
Allele
Anatomy
Autism
Biochemistry
Computational biology
Cornelia de Lange Syndrome
Disease
Environmental health
Enzyme
Exome
Fetus