Zobrazeno 1 - 10
of 14
pro vyhledávání: '"D. Matthew Gianferante"'
Autor:
Donald Rees, D. Matthew Gianferante, Jung Kim, Theodora Stavrou, Gregory Reaman, Yadav Sapkota, M. Monica Gramatges, Lindsay M. Morton, Melissa M. Hudson, Gregory T. Armstrong, Neal D. Freedman, Wen-Yi Huang, W. Ryan Diver, Adriana Lori, Wen Luo, Belynda D. Hicks, Jia Liu, Amy A. Hutchinson, Alisa M. Goldstein, Lisa Mirabello
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
BackgroundMedulloblastoma is the most common malignant brain tumor in children. Most cases are sporadic, but well characterized germline alterations in APC, ELP1, GPR161, PTCH1, SUFU, and TP53 predispose to medulloblastoma. However, knowledge about p
Externí odkaz:
https://doaj.org/article/f19e939d15a6499c95303648c3dec928
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: Diamond Blackfan anemia (DBA) is an autosomal dominant ribosomopathy caused predominantly by pathogenic germline variants in ribosomal protein genes. It is characterized by failure of red blood cell production, and common features inclu
Externí odkaz:
https://doaj.org/article/33382d6041ff4b748615775a8dafe5eb
Autor:
D. Matthew Gianferante, Marcin W. Wlodarski, Evangelia Atsidaftos, Lydie Da Costa, Polyxeni Delaporta, Jason E. Farrar, Frederick D. Goldman, Maryam Hussain, Antonis Kattamis, Thierry Leblanc, Jeffrey M. Lipton, Charlotte M. Niemeyer, Dagmar Pospisilova, Paola Quarello, Ugo Ramenghi, Vijay G. Sankaran, Adrianna Vlachos, Jana Volejnikova, Blanche P. Alter, Sharon A. Savage, Neelam Giri
Publikováno v:
Haematologica, Vol 106, Iss 5 (2020)
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 del
Externí odkaz:
https://doaj.org/article/6dcaa279444c45d49f67d28d56e40b5d
Autor:
Ashley S. Thompson, Neelam Giri, D. Matthew Gianferante, Kristine Jones, Sharon A. Savage, Blanche P. Alter, Lisa J. McReynolds
Publikováno v:
Pediatric Research. 92:1671-1680
Autor:
D. Matthew Gianferante, Amy Moore, Logan Spector, William Wheeler, Tianzhong Yang, Aubrey Hubbard, Richard Gorlick, Ana Patiño-García, Fernando Lecanda, Adrienne Flanagan, Fernanda Amary, Irene L. Andrulis, Jay S. Wunder, David M. Thomas, Mandy L. Ballinger, Massimo Serra, Claudia Hattinger, Ellen Demerath, William Johnson, Brenda Birmann, Immaculata De Vivo, Graham Giles, Lauren Teras, Alan Arslan, Roel C.H. Vermeulen, Jeannette Sample, Neal D. Freedman, Wen-Yi Huang, Stephen J. Chanock, Sharon A. Savage, Sonja I. Berndt, Lisa Mirabello
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14e9b0bc32139e6a28f9a4848bfd96c8
https://doi.org/10.2139/ssrn.4441724
https://doi.org/10.2139/ssrn.4441724
Osteosarcoma: A Surveillance, Epidemiology, and End Results program‐based analysis from 1975 to 2017
Publikováno v:
Cancer. 128:2107-2118
Osteosarcoma is the most common primary bone malignancy. As a rare cancer, population-based studies remain small with limited information on finer demographic categories. Recent studies have reported important genetic differences based on age and eth
Autor:
Jana Volejnikova, Dagmar Pospisilova, Blanche P. Alter, Sharon A. Savage, Marcin W. Wlodarski, Antonis Kattamis, Polyxeni Delaporta, Paola Quarello, D. Matthew Gianferante, Thierry Leblanc, Ugo Ramenghi, Adrianna Vlachos, Jeffrey M. Lipton, Frederick D. Goldman, Evangelia Atsidaftos, Maryam Hussain, Lydie Da Costa, Vijay G. Sankaran, Charlotte M. Niemeyer, Neelam Giri, Jason E. Farrar
Publikováno v:
Haematologica. 106:1303-1310
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 del
Autor:
Ashley S, Thompson, Neelam, Giri, D Matthew, Gianferante, Kristine, Jones, Sharon A, Savage, Blanche P, Alter, Lisa J, McReynolds
Publikováno v:
Pediatric research. 92(6)
Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic insufficiency, neutropenia, and skeletal dysplasia. Biallelic pathogenic variants (PV) in SBDS account for90% of SDS. We hypothesized tha
Autor:
Belynda Hicks, Bin Zhu, Weiyin Zhou, D. Matthew Gianferante, Melissa Rotunno, Kathleen Wyatt, Alisa M. Goldstein, Kristine Jones, Mingyi Wang, Michael Dean, Lisa Mirabello
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with variable expression and nearly complete penetrance. PTCH1 is the major susceptibility locus and has no known hot spots or genotype–phenotype relationship
Autor:
Marena R. Niewisch, Burak Altintas, D. Matthew Gianferante, Lisa J. McReynolds, Sharon A. Savage, Blanche P. Alter
Publikováno v:
The Hereditary Basis of Childhood Cancer ISBN: 9783030744465
The inherited bone marrow failure syndromes (IBMFS) are a clinically and molecularly heterogeneous group of cancer-prone disorders. Many IBMFS are associated with specific clinical characteristics and/or dysmorphic features. The IBMFS associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5489b7976fa4bdd842c8945530af752
https://doi.org/10.1007/978-3-030-74448-9_10
https://doi.org/10.1007/978-3-030-74448-9_10