Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Richard, Spritz"'
Autor:
Soha Sadat Mahdi, Harold Matthews, Nele Nauwelaers, Michiel Vanneste, Shunwang Gong, Giorgos Bouritsas, Gareth S. Baynam, Peter Hammond, Richard Spritz, Ophir D. Klein, Benedikt Hallgrimsson, Hilde Peeters, Michael Bronstein, Peter Claes
Publikováno v:
IEEE Access, Vol 10, Pp 23450-23462 (2022)
Identification and delineation of craniofacial characteristics support the clinical and molecular diagnosis of genetic syndromes. Deep learning (DL) frameworks for syndrome identification from 2D facial images are trained on large clinical datasets u
Externí odkaz:
https://doaj.org/article/be55dad4767447a29263c8bcfe7746a7
Autor:
Christopher D Powell, Warren M Wilson, Godwin Olesaningo, Mange Manyama, Heather Jamniczky, Richard Spritz, James C Cross, Kenneth Lukowiak, Benedikt Hallgrimsson, Paula N Gonzalez
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0237700 (2020)
The reduction of food intake during pregnancy is part of many cultural and religious traditions around the world. The impact of such practices on fetal growth and development are poorly understood. Here, we examined the patterns of diet intake among
Externí odkaz:
https://doaj.org/article/3ed0d73f81fc4f92831048069560b1b6
Autor:
Harold Matthews, Michiel Vanneste, Kaitlin Katsura, David Aponte, Michael Patton, Peter Hammond, Gareth Baynam, Richard Spritz, Ophir D Klein, Benedikt Hallgrimsson, Hilde Peeters, Peter Claes
Publikováno v:
Journal of Medical Genetics. 60:285-293
BackgroundIn clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0f438a532cb53fea9967fd321f0a518
https://doi.org/10.1136/jmedgenet-2021-108366
https://doi.org/10.1136/jmedgenet-2021-108366
Autor:
Soha S. Mahdi, Harold Matthews, Michiel Vanneste, Nele Nauwelaers, Shunwang Gong, Giorgos Bouritsas, Gareth S Baynam, Peter Hammond, Richard Spritz, Ophir D Klein, Benedikt Hallgrimsson, Hilde Peeters, Peter Claes
Clinical diagnosis of syndromes benefits strongly from objective facial phenotyping. This study investigates facial dysmorphism of genetic syndromes by building and investigating a low-dimensional metric space referred to as the clinical face phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59521774e09350883f2edf7eb867fc48
https://doi.org/10.1101/2022.12.27.521999
https://doi.org/10.1101/2022.12.27.521999
Publikováno v:
PLoS Genetics, Vol 10, Iss 11, p e1004724 (2014)
Externí odkaz:
https://doaj.org/article/ae5e73db88204f27ac64ced818a685a1
Autor:
Diana Chang, Feng Gao, Andrea Slavney, Li Ma, Yedael Y Waldman, Aaron J Sams, Paul Billing-Ross, Aviv Madar, Richard Spritz, Alon Keinan
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e113684 (2014)
Many complex human diseases are highly sexually dimorphic, suggesting a potential contribution of the X chromosome to disease risk. However, the X chromosome has been neglected or incorrectly analyzed in most genome-wide association studies (GWAS). W
Externí odkaz:
https://doaj.org/article/2b6b7d9875d94e669bbf80e84b5feb1f
Autor:
Mihaela, Pavličev, Philipp, Mitteroecker, Paula M, Gonzalez, Campbell, Rolian, Heather, Jamniczky, Fernando Pardo-Manuel, Villena, Ralph, Marcucio, Richard, Spritz, Benedikt, Hallgrimsson
Publikováno v:
Journal of experimental zoology. Part B, Molecular and developmental evolution. 326(8)
Development translates genetic variation into a multivariate pattern of phenotypic variation, distributing it among traits in a non-uniform manner. As developmental processes are largely shared within species, this suggests that the heritable phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::95318d3db0b5213495a06a10ec683f34
https://pubmed.ncbi.nlm.nih.gov/28097826
https://pubmed.ncbi.nlm.nih.gov/28097826
Autor:
Richard, Spritz
Publikováno v:
Dermatology online journal. 17(11)
Miminal diagnostic criteria for the diagnosis of neurofibromatosis 1 (NF1) includes six or more café-au-lait macules plus axillary freckling. However, a recent report by Duarte et al claims co-occurrence of piebaldism and NF1 using this minimal crit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::13d97cf09f6d9f9db6f5b2b3bbc74fed
https://pubmed.ncbi.nlm.nih.gov/23374959
https://pubmed.ncbi.nlm.nih.gov/23374959
Autor:
Richard Spritz
Publikováno v:
Vitiligo ISBN: 9783540693604
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96fcf6894de2ced4a56059b4f39063fe
https://doi.org/10.1007/978-3-540-69361-1_22
https://doi.org/10.1007/978-3-540-69361-1_22
Autor:
Richard Spritz, Thomas Arnold, Samuel Buonocore, David Carter, Tasha Fingerlin, Wilson Odero, John Wambani, Robert Tenge, Christopher Weatherley-White
Publikováno v:
The Cleft Palate-Craniofacial Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4e56cc0f708eac18ffc506975ead4d7
https://doi.org/10.1597/06-136
https://doi.org/10.1597/06-136