Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Peter M. Kroisel"'
Publikováno v:
BioTechniques, Vol 23, Iss 1, Pp 72-77 (1997)
Externí odkaz:
https://doaj.org/article/a170a594133b4630847a754eb93ac198
Autor:
Matthias Rath, Tim M. Strom, Ute Felbor, Johannes Trenkler, Peter M. Kroisel, Stefanie Spiegler
Publikováno v:
American Journal of Medical Genetics. Part a
Am. J. Med. Genet. A 179, 295-299 (2019)
Am. J. Med. Genet. A 179, 295-299 (2019)
Grange syndrome is an autosomal recessive condition characterized by arterial occlusions and hypertension. Syndactyly, brachydactyly, bone fragility, heart defects, and learning disabilities have also been reported. Loss-of-function variants in YY1AP
Autor:
Ulrike Schara, Stephanie Demuth, Matthias Begemann, György Fekete, Laima Ambrozaityte, Magdeldin Elgizouli, Alma Kuechler, Daniela Dey, Asmaa Kenawy, Robert Meyer, Christian Thomas Hübner, Thomas Eggermann, Birute Burnyte, Miriam Elbracht, Thomas Opladen, Carmen Schröder, Peter M. Kroisel
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet journal of rare diseases 16(1), 42 (2021). doi:10.1186/s13023-021-01683-x
Orphanet journal of rare diseases, London : BioMed Central Ltd., 2021, vol. 16, art. no. 42, p. [1-10]
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet journal of rare diseases 16(1), 42 (2021). doi:10.1186/s13023-021-01683-x
Orphanet journal of rare diseases, London : BioMed Central Ltd., 2021, vol. 16, art. no. 42, p. [1-10]
Orphanet journal of rare diseases 16(1), 42 (2021). doi:10.1186/s13023-021-01683-x
Published by BioMed Central, London
Published by BioMed Central, London
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7639dffb3fcf5d07fdd896654cce830
https://www.ncbi.nlm.nih.gov/pubmed/33482836
https://www.ncbi.nlm.nih.gov/pubmed/33482836
Autor:
Sugirthan Sivalingam, Sheetal Kumar, Karl Heinz Grzeschik, Fabian Hauck, Xiujuan Sun, Armand Bottani, Janine Altmüller, Shangzhi Dai, Peter M. Kroisel, Fanny Kortüm, Aytaj Humbatova, Scott D. Walter, Yuan Wu, Wen Qin, Xinwu Niu, Mingyang Lee, Regina C. Betz, Gianluca Tadini, Kerstin Kutsche, Andreas Buness, Katta M. Girisha, Songmei Geng, Maria Teresa Romano, Huijun Wang, Yuanxiang Liu, Lin Ma, Susanne Motameny, Shuxia Yang, Nicole Cesarato, Zhimiao Lin, Xiaopeng Wang, Ran Mo, Anne Marie Calza, Dorothea Bornholdt
Publikováno v:
Am J Hum Genet
IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome. The present report descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9680a4ec39a1ad19d3c325026208f5
https://europepmc.org/articles/PMC7332643/
https://europepmc.org/articles/PMC7332643/
Autor:
R. Hochstätter, Bence Csapo, E. Kampelmuhler, Patrick Greimel, J. Gellen, A. Schuetz, Philipp Klaritsch, Peter M. Kroisel, N. Taumberger
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 56:57-57
Autor:
Bert Callewaert, Robert J. Hopkin, David A. Koolen, Hennie T. Brüggenwirth, Dezso David, Heather L. Ferguson, Helen Cox, Claire Redin, Joseph V. Thakuria, Ryan L. Collins, Mary-Alice Abbott, Michael E. Talkowski, Sjors Middelkamp, Michael J. Macera, Salmo Raskin, William J. Rhead, Heather Fisher, Han G. Brunner, Emmanuelle Lemyre, Margo Grady, Elyse Mitchell, Tarja Mononen, Sofia L. Alcaraz-Estrada, Cristin Griffis, Emily Moe, Samantha L.P. Schilit, Matthew J. Waterman, Colby Chiang, Aggie W. M. Nieuwint, Ivo Renkens, Joan F. Atkin, Jessie C. Jacobsen, Shehla Mohammed, Ernie M.H.F. Bongers, Maria de la Concepcion A Yerena-de Vega, Wigard P. Kloosterman, Jiddeke M. van de Kamp, Ton van Essen, Liya R Mikami, Tom Cushing, Conny M. A. van Ravenswaaij-Arts, Melita Irving, Kwame Anyane-Yeboa, Diane Masser-Frye, Catarina M. Seabra, Daniela Giachino, Bert B.A. de Vries, Brynn Levy, Caroline Antolik, Tina M. Bartell, Erika Aberg, Edwin Cuppen, Pamela Gerrol, Shahrin Pereira, Megan Mortenson, Raul Eduardo Pina Aguilar, Zehra Ordulu, Jennelle C. Hodge, Nicole de Leeuw, Troy J. Gliem, Michael W. McClellan, Sarah Vergult, Julia Tagoe, Giulia Pregno, Sandhya Parkash, David R. FitzPatrick, Giorgia Mandrile, Catharina M L Volker-Touw, Joseph T. Glessner, Danielle Perrin, Haibo Li, Peter M. Kroisel, Rhett Adley, Jodi D. Hoffman, Dorothy Warburton, Lauren Margolin, David J. Harris, Omar A. Abdul-Rahman, Ineke van der Burgt, Benjamin Currall, Monika Weisz Hubshman, Marjolijn C.J. Jongmans, Roberto T. Zori, William Lawless, Cynthia Lim, Andrea Hanson-Kahn, Vamsee Pillalamarri, Ken Corning, Tamara Mason, Yu An, Pino J. Poddighe, Susan P. Pauker, Cinthya J Zepeda Mendoza, Fowzan S. Alkuraya, Mira Irons, Sandra Janssens, Ranad Shaheen, Kathleen A. Leppig, Erica Spiegel, Chester W. Brown, Cynthia C. Morton, Filip Roelens, Ron Hochstenbach, Tamison Jewett, James F. Gusella, John P. Johnson, Brett H. Graham, Björn Menten, Annelies Dheedene, Rosamund Hill, Eva H. Brilstra, Alex V. Levin, Carlo Marcelis, Anna Wilson, A. Micheil Innes, Matthew A. Deardorff, Marc D'Hooghe, Elizabeth Beyer, Katy Phelan, Jayla Ruliera, Carrie Hanscom, Mark A. Hayden, Debra Rita, Edward J. Lose, Poornima Manavalan, Jerome Korzelius, Susan Wiley, Harrison Brand, Matthew R. Stone, Diane Lucente, Markus J. van Roosmalen, Tammy Kammin, Rebecca Sparkes, Patrick Rump, Stephen G. Kahler, Graciela Moya, Bregje W.M. van Bon, Blair Stevens, Eric C. Liao, Karen W. Gripp, Yves Lacassie, Dawn L. Earl, Erik C. Thorland, Linda M. Reis, Andrea L. Gropman, Jonathan A. Bernstein, Ian Blumenthal, Mary-Anne Anderson, Hong Li
Publikováno v:
Nature Genetics, 49(1), 36-45. Nature Publishing Group
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Nature Genetics, 49, 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49(1), 36–45. Nature Publishing Group
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Nature Genetics, 49, 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49(1), 36–45. Nature Publishing Group
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5007f204ae92a2e6bbed6b2be1af11
https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544c
https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544c
Autor:
Guntram Borck, Yorck Hellenbroich, Sigrid Tinschert, Christine Fauth, Andreas Ferbert, Erdmute Kunstmann, Sabine Hoffjan, Martina Mair, Omid Nikoubashman, Knut Brockmann, Barbara Zoll, G. Christoph Korenke, Stefanie Spiegler, Silke Pauli, Stephanie Gkalympoudis, Mark H. Ginsberg, Winnie Schröder, Jian Liu, Juliane Najm, Irene Sudholt, Peter M. Kroisel, Ute Felbor, Ulrich Sure, Susanne Munk-Schulenburg, Wolfram Henn, Irina Hüning, Sabine Rudnik-Schöneborn, Leonie Freudenberg, Michaela Wiednig, Ute Grasshoff, Miriam Elbracht
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 2, iss 2
Molecular genetics & genomic medicine : MGGM 2(2), 176-185 (2014). doi:10.1002/mgg3.60
Molecular genetics & genomic medicine, vol 2, iss 2
Molecular genetics & genomic medicine : MGGM 2(2), 176-185 (2014). doi:10.1002/mgg3.60
Cerebral cavernous malformations (CCM) are prevalent vascular malformations occurring in familial autosomal dominantly inherited or isolated forms. Once CCM are diagnosed by magnetic resonance imaging, the indication for genetic testing requires eith
Autor:
Rie Miyata, Hans H. Goebel, Miguel Del Campo, Salwa Al-Kaabi, Caroline Sewry, Georg F. Hoffmann, Peter M. Kroisel, Michael A. Simpson, Enrico Bertini, Stephen Abbs, Heinz Jungbluth, Birgit Brandmeier, Doriette Soler, Jozef Hertecant, Masaharu Hayashi, Carlo Dionisi-Vici, Stefan Koelker, Frances Smith, Shehla Mohammed, Verity M Mcclelland, Christian Koerner, David K. Manchester, Amber E. ten Hoedt, Mohammed Al-Owain, Dragana Josifova, Christian Windpassinger, Shu Yau, Mathias Gautel, Stefan Buk, Francis Filloux, Ay Lin Kho, Istvan Bodi, R. Curtis Rogers, Zoe Urry, Elizabeth Said, Thomas Cullup, Frits A. Wijburg
Publikováno v:
Nature genetics
Nature genetics, 45(1), 83-87. Nature Publishing Group
Nature genetics, 45(1), 83-87. Nature Publishing Group
Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and
Autor:
Doris Zebedin, Beate Tiran, Klaus Wagner, M Häusler, Eva Karpf, Barbara Pertl, Peter M. Kroisel, Philipp Klaritsch
Publikováno v:
The Lancet. 389:1857-1858
Autor:
Christian Windpassinger, Cristina Woellner, Bodo Grimbacher, Dietmar Pfeifer, Peter M. Kroisel, Markus Beitzke, Christian Enzinger, Franz Fazekas
Publikováno v:
Journal of the Neurological Sciences. 309:12-15
The Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency which recently has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3). Although HIES is characterized by rec