Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Eugenio Zapata-Aldana"'
Autor:
Eugenio Zapata‐Aldana, Delia Ceballos‐Sáenz, Jorge Rodrigo Vásquez‐Ríos, Lilian Vera‐Alvarez, Jorge Carrillo‐Soler
Publikováno v:
Clinical Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4745b51011be954133bae123e0a21b88
https://doi.org/10.1111/cge.14356
https://doi.org/10.1111/cge.14356
Publikováno v:
Clinical Dysmorphology. 30:17-21
The spectrum of disorders of sexual development includes anatomical abnormalities of the external genitalia, the phenotypic variability of which and the underlying causes are numerous. However, female aphallia and ectopia of the labium majorum appear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a99b72d9682bb6230763e82932267cd
https://doi.org/10.1097/mcd.0000000000000354
https://doi.org/10.1097/mcd.0000000000000354
Autor:
Benjamín Cárcamo, Barbara Masotto, Anna Baquero-Vaquer, Delia Ceballos-Saenz, Eugenio Zapata-Aldana
Publikováno v:
European Journal of Medical Genetics. 65:104600
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with 341 cases enrolled in the CSS/BAF-related disorders r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c6142e1b384be0b04cb52104659b7a6
https://doi.org/10.1016/j.ejmg.2022.104600
https://doi.org/10.1016/j.ejmg.2022.104600
Autor:
Delia Ceballos-Saenz, Eugenio Zapata-Aldana, Nicholas E. Johnson, Cam-Tu Emilie Nguyen, Craig Campbell, Michael Glueck, Madhavi Prasad
Publikováno v:
Journal of Neuromuscular Diseases. 6:341-347
Background Congenital Myotonic Dystrophy (CDM1) is a rare neuromuscular condition caused by a triplet repeat expansion in the DMPK gene. Despite there being a well-recognized clinical syndrome, there has not been an effort to use a standardized ontol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53f424e33deb2c503a17f14df24b6725
https://doi.org/10.3233/jnd-180345
https://doi.org/10.3233/jnd-180345
Autor:
Tina Duong, Kiera Berggren, Craig Campbell, Tetsuo Ashizawa, Leah Hellerstein, Chiara Marini-Bettolo, Anne Berit Ekström, Nicholas E. Johnson, Nathalie Angeard, Valeria A. Sansone, Eugenio Zapata Aldana, Cuixia Tian
Publikováno v:
Paediatrics Publications
Neurology: Clinical Practice
Neurology: Clinical Practice
Purpose of reviewMyotonic dystrophy type 1 is a multisystemic disorder caused by a noncoding triplet repeat. The age of onset is variable across the lifespan, but in its most severe form, the symptoms appear at birth (congenital myotonic dystrophy) o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::095c68871835bfcc1ad0741783dc3da6
https://doi.org/10.1212/cpj.0000000000000646
https://doi.org/10.1212/cpj.0000000000000646
Publikováno v:
Paediatrics Publications
The group of distal arthrogryposis (DA) disorders is characterized by congenital contractures of the distal joints. In most instances, these are genetic disorders are inherited in an autosomal dominant fashion; however, there is wide genetic and phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34331b004256ed947798a00a307ba952
https://doi.org/10.1002/ajmg.a.61143
https://doi.org/10.1002/ajmg.a.61143
Autor:
Natalya Karp, Tugce B. Balci, So Lee, Bekim Sadikovic, Eugenio Zapata-Aldana, Ping Yang, Asuri N. Prasad
Publikováno v:
Paediatrics Publications
Background:Retrospective observational study to determine diagnostic yield and utility of genetic testing in children with epilepsy attending the Epilepsy Clinic at Children’s Hospital, London, Ontario, Canada.Methods:Children (birth–18 years) wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6898db836f5a663cefc88e9f7b9f95
https://pubmed.ncbi.nlm.nih.gov/32741404
https://pubmed.ncbi.nlm.nih.gov/32741404
Publikováno v:
Journal of Neuromuscular Diseases. 5:331-340
Background Congenital myotonic dystrophy (CDM) is the neonatal onset and most severe presentation of Myotonic Dystrophy type 1. Since it first description, perinatal complications have been detailed including prolonged hospital stay, respiratory and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad74fa4b669592108636b381ae94a7d
https://doi.org/10.3233/jnd-170277
https://doi.org/10.3233/jnd-170277
Autor:
Luis Altamirano-Diaz, Basmah El-Aloul, Craig Campbell, Rebecca Rodrigues, Eugenio Zapata-Aldana, Cam-Tu Nguyen, Monali S. Malvankar-Mehta
Publikováno v:
Paediatrics Publications
Cardiomyopathy is a major source of morbidity and mortality in Duchenne muscular dystrophy (DMD) patients now that respiratory care has improved. There is currently no definitive evidence guiding the management of DMD-associated cardiomyopathy (DMD-C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee3469e0c7ffcadeb797f8fb287e0fd4
https://doi.org/10.1016/j.nmd.2016.09.019
https://doi.org/10.1016/j.nmd.2016.09.019
Autor:
Hugh J. McMillan, Craig Campbell, Tony Rupar, Eugenio Zapata-Aldana, Mark A. Tarnopolsky, John J. Mitchell, Johannes Roth, Pranesh Chakraborty, Lesley Turner, Catherine Brunel-Guitton
Publikováno v:
Paediatrics Publications
Paediatr Child Health
Paediatr Child Health
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d35cbee25156be10f52611503acfb0a
https://ir.lib.uwo.ca/paedpub/2219
https://ir.lib.uwo.ca/paedpub/2219
