Zobrazeno 1 - 10
of 22
pro vyhledávání: '"P. J. Benke"'
Autor:
Mengqi Zhou, Hong Zhang, Heather Camhi, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Jung-Wook Kim, Hera Kim-Berman, Ninna M. R. Yuson, Paul J. Benke, Yiqun Wu, Feng Wang, Yaqin Zhu, James P. Simmer, Jan C-C. Hu
Publikováno v:
International Journal of Oral Science, Vol 13, Iss 1, Pp 1-11 (2021)
Abstract Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis. Many genes have been implicated in the etiology of tooth agenesis, which is highly variable in its clinical presentation. The p
Externí odkaz:
https://doaj.org/article/b4fae4e706cc42399f6b5e82f45aca92
Autor:
Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through
Externí odkaz:
https://doaj.org/article/c447334b912746929ee920eb4139f48f
Autor:
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatel
Externí odkaz:
https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd
Autor:
Meng Su, Paul J. Benke, Guney Bademci, Filiz Basak Cengiz, Xiaomei Ouyang, Jinghong Peng, Carmen E. Casas, Mustafa Tekin, Yao-Shan Fan
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-6 (2018)
Abstract Background Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes. Case presentation We report a 10-month-old boy with short stature, minor anomalies and mild motor
Externí odkaz:
https://doaj.org/article/8e6841c5b5664d6aa6c6723ff7be68d2
Autor:
Mengqi Zhou, Hong Zhang, Heather Camhi, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Jung-Wook Kim, Hera Kim-Berman, Ninna M. R. Yuson, Paul J. Benke, Yiqun Wu, Feng Wang, Yaqin Zhu, James P. Simmer, Jan C-C. Hu
Publikováno v:
International Journal of Oral Science, Vol 13, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/69aca93b9fdf4733af20c92ca8e7c19f
Autor:
Stephen C Collins, Brad Coffee, Paul J Benke, Elizabeth Berry-Kravis, Fred Gilbert, Ben Oostra, Dicky Halley, Michael E Zwick, David J Cutler, Stephen T Warren
Publikováno v:
PLoS ONE, Vol 5, Iss 3, p e9476 (2010)
Fragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation
Externí odkaz:
https://doaj.org/article/01161e1cd4f142dab715df9545f057bd
Autor:
F. Illies, Cornelius F. Boerkoel, A. Ieshima, David V. Milford, Radovan Bogdanovic, S. O'Neill, Isabel Cordeiro, M. Bulla, D. F. Geary, Ana Medeira, A. Burguet, Guiliana Lama, Z. Rener-Primec, P. J. Benke, Beate E. Schmidt, Ilkka Kaitila, Mark Joseph, Jean Luc André, H. G. Santos, Jürgen Spranger, Rosanna Weksberg, M. D. Ludman, D. R. Mcleod, B. Leheup, N. Zupancic, Jochen H. H. Ehrich, Stefan Fründ, Sandra Cockfield, T. Örmälä, Graham Smith, A. Santava
Publikováno v:
European Journal of Pediatrics. 159:1-7
Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbb7241e331f010ac77826a472869a09
https://doi.org/10.1007/s004310050001
https://doi.org/10.1007/s004310050001
Publikováno v:
Clinical genetics. 68(6)
Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA are predicted to have a neocentromere and have been referred to as mitotically stable neocentromere marker chromosomes (NMCs). We report the molecular cytogenetic characterization
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2ad02b45822e01e2ddd9b8d1470513d3
https://pubmed.ncbi.nlm.nih.gov/16283881
https://pubmed.ncbi.nlm.nih.gov/16283881
Publikováno v:
Human Genetics. 80:253-258
All patients with systemic lupus erythematosus (SLE) demonstrated two classes of newly synthesized DNA in sucrose density gradients of PHA (phytohemagglutinin)-stimulated lymphocytes: a large-molecular-weight fraction that comigrates with control DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da878ac109f2c813c340bf3f7c12448a
https://doi.org/10.1007/bf01790093
https://doi.org/10.1007/bf01790093
Autor:
P. J. Benke
Publikováno v:
JAMA: The Journal of the American Medical Association. 251:3267-3269
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a430c97eb1299cbe0b8cb51403aef781
https://doi.org/10.1001/jama.251.24.3267
https://doi.org/10.1001/jama.251.24.3267