Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Hannele Koillinen"'
Autor:
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J Kaiser, Alma Kuechler
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD), learning difficulties/intel
Externí odkaz:
https://doaj.org/article/96bb68fe9add4f0698345b5dfbe47645
Autor:
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R. Roeder, Kimberly M. Nugent, Patricia I. Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E. Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice L. Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Abstract Background Exon-targeted microarrays can detect small (
Externí odkaz:
https://doaj.org/article/e6f31aabb43544b3bfd37c91bba99006
Autor:
Hannele Koillinen, Marieke G H C Reinders, Michel van Geel, Robbert-Jan C A M Gielen, Klara Mosterd, Aimee D C Paulussen
Publikováno v:
Journal of Human Genetics, 63(9), 965-969. Nature Publishing Group
Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the PTCH1 gene. PTCH1 is known to have different isoforms with different functional properties and expression patterns among tissues. We
Autor:
Lisa J. Strug, Hannele Koillinen, Caroline Mackie Ogilvie, David A. Collier, Vincenzo Leuzzi, Zeynep Tümer, Joo Wook Ahn, Laura Addis, Deb K. Pal, Andrea K. Vaags, Hilary Coon, Richard Dobson, bruno lenne, Stephen W. Scherer, Pauline Chaste, Dalila Pinto, Scott Wilson, Christian R. Marshall, Jeremy R. Parr, Sarah Curran, Abhishek Dixit, Joris Andrieux, Kristina Aubell
Publikováno v:
Human Mutation. 36:842-850
Copy-number variations (CNVs) are important in the aetiology of neurodevelopmental disorders and show broad phenotypic manifestations. We compared the presence of small CNVs disrupting the ELP4-PAX6 locus in 4,092 UK individuals with a range of neuro
Autor:
Jonna Tallila, Massimiliano Gentile, Samuel Myllykangas, Maija Kaartinen, Pertteli Salmenperä, Sanna Vattulainen, Tero-Pekka Alastalo, Laura Ollila, Hannele Koillinen, Juha Koskenvuo, Tiina Heliö, Oyediran Akinrinade, Markku S. Nieminen
Publikováno v:
European Heart Journal
Genetic analysis among patients with dilated cardiomyopathy (DCM) is becoming an important part of clinical assessment, as it is in hypertrophic cardiomyopathy (HCM). The genetics of DCM is complex and therefore next-generation sequencing strategies
Autor:
Christian P. Schaaf, Janice L. Smith, Rachel Westman, Ronit Marom, Laurence Faivre, Pawel Stankiewicz, Patricia I. Bader, Myla Ashfaq, Hsiao-Tuan Chao, Monica Proud, Hope Northrup, Lindsay E. Elton, Seema R. Lalani, Yaping Yang, Chester W. Brown, Kimberly Nugent, Lauren Dengle, James R. Lupski, Sandesh C.S. Nagamani, Heather G. Petrie, Bo Yuan, Robert Wildin, Carlos A. Bacino, Chad A. Shaw, Tomasz Gambin, Hannele Koillinen, La Donna Immken, Edward P. Buchanan, Zeynep Coban-Akdemir, Ankita Patel, Lisa Emrick, Diane Treadwell-Deering, Anita E. Beck, Nora Urraca, Sau Wai Cheung, Elizabeth Roeder, Amy M. Breman, Mathilde Lefebvre, Arthur L. Beaudet, Amber N. Pursley, Gary Bellus, Sung Hae L. Kang, Sailaja Golla, Jill A. Rosenfeld, Reuben Matalon, Michael P. Cummings, Pengfei Liu, Roya Mostafavi, Saunder Bernes, Shaun Varghese, Magdalena Walkiewicz, Weimin Bi
Publikováno v:
Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Background Exon-targeted microarrays can detect small (
Publikováno v:
American journal of medical genetics. Part A. 176(1)
Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many novel disease-causing recurrent microdeletion and microduplication syndromes. Here we present three unrelated patients (2F; 1M) from three different co
Publikováno v:
Journal of Clinical Immunology. 34:114-118
We report a 45-year old female adult patient with terminal deletion of chromosome 11q resulting in clinical phenotype of late-onset combined immunodeficiency.We describe the clinical phenotype and discuss the similarities between our patient and thos
Autor:
Martine Dunnwald, Danilo Moretti-Ferreira, Myriam Peyrard-Janvid, Brian C. Schutte, Akira Kinoshita, Juha Kere, Jason L. Weirather, Renata Lúcia Leite Ferreira de Lima, Jeffrey C. Murray, Maria A. Mansilla, Hannele Koillinen, Steve L. Goudy, Alan L. Shanske, Nicholas K. Rorick
Publikováno v:
American Journal of Medical Genetics Part A. 155:1314-1321
Genetic variation in the transcription factor Interferon Regulatory Factor 6 (IRF6) causes and contributes risk for oral clefting disorders. We hypothesized that genes regulated by IRF6 are also involved in oral clefting disorders. We used five crite
Autor:
Tarja Linnankivi, T Aarimaa, Tuula Lönnqvist, Helena Pihko, Leena Valanne, Taina Autti, Nina Lundbom, Tuomo Kuusi, Hannele Koillinen, Anna-Maija Häkkinen, Kirsi Sainio
Publikováno v:
Neurology. 63:688-692
Background: A new leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate was recently defined. The authors describe five new patients with this entity. Methods: Brain MRI was performed in all patients and spinal MRI and