Results 201 to 210 of about 1,002,198 (296)

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Optical genome mapping improves detection and characterisation of cytogenetic abnormalities in non‐Hodgkin lymphomas

British Journal of Haematology, EarlyView.
Optical genome mapping (OGM) is feasible on fresh and frozen tissue lymphoma samples and demonstrated its added value for accurate diagnostic classification. OGM surpasses karyotype and FISH in refining diagnoses of lymphoma, identifying class‐defining rearrangements along with prognostic markers.
Coura Fall, Agnès Daudignon, Séverine Valmary‐Degano, Julie Mondet, Lucile Bussot, Lysiane Molina, Simon Chevalier, Edouard Bonneville, Pierre Aubert, Sylvie Tondeur, Clémentine Legrand, Jean‐Baptiste Gaillard, Hélène Guermouche, Anouk Emadali, Sylvain Carras, Christine Lefebvre   +15 more
wiley   +1 more source

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Nature Genetics, 2007
P. Szatmari, A. Paterson, L. Zwaigenbaum, W. Roberts, J. Brian, Xiao-qing Liu, J. Vincent, J. Skaug, A. Thompson, Lili Senman, L. Feuk, Cheng Qian, S. Bryson, Marshall B. Jones, C. Marshall, S. Scherer, V. Vieland, Christopher Bartlett, L. Mangin, R. Goedken, Alberto Maria Segre, M. Pericak-Vance, M. Cuccaro, J. Gilbert, H. Wright, R. Abramson, C. Betancur, T. Bourgeron, C. Gillberg, M. Leboyer, J. Buxbaum, K. Davis, E. Hollander, J. Silverman, Joachim Hallmayer, L. Lotspeich, J. Sutcliffe, J. Haines, S. Folstein, J. Piven, T. Wassink, V. Sheffield, D. Geschwind, M. Bucan, W. Brown, R. Cantor, J. Constantino, T. Gilliam, M. Herbert, C. Lajonchere, D. Ledbetter, Christa Lese-Martin, Janet Miller, S. Nelson, C. Samango-Sprouse, S. Spence, M. State, R. Tanzi, H. Coon, G. Dawson, B. Devlin, A. Estes, P. Flodman, L. Klei, W. McMahon, N. Minshew, J. Munson, E. Korvatska, P. Rodier, G. Schellenberg, Moyra J. Smith, M. Spence, C. Stodgell, P. Tepper, E. Wijsman, Chang-En Yu, B. Rogé, Carine Mantoulan, Kerstin Wittemeyer, A. Poustka, B. Felder, S. Klauck, C. Schuster, F. Poustka, S. Bölte, Sabine Feineis-Matthews, Evelyn Herbrecht, G. Schmötzer, J. Tsiantis, K. Papanikolaou, E. Maestrini, E. Bacchelli, F. Blasi, Simona Carone, Claudio Toma, H. van Engeland, M. D. de Jonge, C. Kemner, F. Koop, M. Langemeijer, Channa T. Hijmans, W. Staal, G. Baird, P. Bolton, M. Rutter, E. Weisblatt, Jonathan Green, C. Aldred, J. Wilkinson, A. Pickles, A. Le Couteur, T. Berney, H. McConachie, A. Bailey, K. Francis, Gemma Honeyman, A. Hutchinson, J. Parr, S. Wallace, A. Monaco, G. Barnby, Kazuhiro Kobayashi, J. Lamb, I. Sousa, N. Sykes, E. Cook, Stephen J. Guter, B. Leventhal, Jeff Salt, C. Lord, C. Corsello, Vanessa Hus, D. Weeks, F. Volkmar, M. Tauber, E. Fombonne, A. Shih, Kacie J. Meyer   +137 more
semanticscholar   +1 more source

Covalent drug discovery: Progress against key targets, emerging strategies and lessons learnt

British Journal of Pharmacology, EarlyView.
Abstract Covalent drug discovery is currently experiencing a boom in industrial and academic interest. To date, at least 75 covalent drugs have received regulatory approval, targeting both traditional target classes and more challenging proteins for which other approaches failed. In many cases, unique aspects of covalent targeting are essential for the
Charles P. Brown, Alan Armstrong, David J. Mann   +2 more
wiley   +1 more source

Oncogenic BRAF and KRAS Promote Global DNA Hypomethylation Through a Directed Pathway That Upregulates TET3

Cancer Science, EarlyView.
Oncogenic BRAF and KRAS promote global DNA hypomethylation through a directed pathway that increases the levels of TET3, which helps drive tumorigenesis. ABSTRACT Aberrant epigenetic modification is one of the characteristics of the cancer genome.
Ichiro Onoyama, W. Rod Hardy, Shoichiro Takeishi, Lihua Julie Zhu, Yanglan Tan, Lloyd Hutchinson, Jianhong Ou, Leyuan Ma, Ching‐Man Virbasius, Masafumi Yasunaga, Keiichi I. Nakayama, Scott A. Shaffer, Michael R. Green   +12 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

The impact of chromosomal rearrangements on regulation of gene expression.

Human Molecular Genetics, 2014
L. Harewood, P. Fraser
semanticscholar   +1 more source

Bone Marrow Pathology in Cold Agglutinin‐Mediated Autoimmune Hemolytic Anemia: A Study of 56 Cases

European Journal of Haematology, EarlyView.
ABSTRACT Cold agglutinin disease (CAD) is a rare form of autoimmune hemolytic anemia (AIHA). CAD occurs in the context of a small clonal B‐cell lymphoproliferation restricted to blood and/or bone marrow (BM), without overt or extramedullary lymphoma. The WHO‐HAEM5 introduced a description of the CAD‐associated lymphoproliferative disorder (CAD‐LPD) in ...
Anne‐Marie L. Becking, Sophie J. Bernelot Moens, Marie José Kersten, Femke V. M. Mulder, Steven T. Pals, Lianne Koens, Josephine M. I. Vos   +6 more
wiley   +1 more source

Information on chromosome rearrangements

Fungal Genetics Reports, 1977
D. D. Perkins, E. G. Barry
openaire   +2 more sources

Homologous recombination mutants cause differing lethality between h− and h+ Schizosaccharomyces pombe strains due to mat1 heterochromatin

The FEBS Journal, EarlyView.
Homologous recombination (HR) in Schizosaccharomyces pombe is essential when mating‐type switching–induced double‐strand breaks (DSBs) form at the mat1 locus. In h90 and h− strains, efficient mat1 DSB formation renders HR indispensable unless suppressors block these breaks.
Peter Kolesar, Siarhei Paliavoi, Barbora Stefanovie, Jan Josef Palecek   +3 more
wiley   +1 more source