Zobrazeno 1 - 10
of 183
pro vyhledávání: '"Norma, Leonard"'
Autor:
Vahid Reza Yassaee, Lauren Rudichuk, Helly Goez, Alison Eaton, Joanna Lazier, Mohammad Miryounesi, Feyzollah Hashemi-Gorji, Norma Leonard, Krista M. Vincent
Publikováno v:
Clinical Genetics. 100:637-640
HECT And RLD Domain-Containing E3 Ubiquitin Protein Ligase 2, or HERC2, codes an ubiquitin ligase that has an important role in key cellular processes including cell cycle regulation, DNA repair, mitochondrial functions, and spindle formation during
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30e078cb990ec27c34bb835ffa2ad29b
https://doi.org/10.1111/cge.14039
https://doi.org/10.1111/cge.14039
Publikováno v:
American Journal of Perinatology Reports, Vol 4, Iss 01, Pp 013-016 (2014)
Abstract Miller–Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema. We believe th
Externí odkaz:
https://doaj.org/article/2fb835058ea44057896946c5c817657a
Autor:
Norma Leonard, Vahid Reza Yassaee, Krista M. Vincent, Feyzollah Hashemi-Gorji, Alison Eaton, Helly Goez, Lauren Rudichuk, Joanna Lazier, Mohammad Miryounesi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3629806963018510ef1d369a3ae9def
https://doi.org/10.1111/cge.14039/v2/response1
https://doi.org/10.1111/cge.14039/v2/response1
Autor:
Amanda J. Walne, Tanya Bhagat, Michael Kirwan, Cyril Gitiaux, Isabelle Desguerre, Norma Leonard, Elena Nogales, Tom Vulliamy, Inderjeet S. Dokal
Publikováno v:
Haematologica, Vol 98, Iss 3 (2013)
Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be one of defective telomere maintenance. Recently, biallelic CTC1 mutations have been describe
Externí odkaz:
https://doaj.org/article/e3889e5e3daf47c395c1bca9dc2ee3a8
Autor:
Lawrence P. Richer, Nancy A. Dower, Norma Leonard, Alicia K. J. Chan, Charlene M. T. Robertson
Publikováno v:
Case Reports in Pediatrics, Vol 2011 (2011)
The recurrence of cerebral palsy in the same family is uncommon. We, however, report on two families with two or more affected siblings. In both families, numerous potential risk factors were identified including environmental, obstetric, and possibl
Externí odkaz:
https://doaj.org/article/34751289669845cb8473aacef9f75bb2
Autor:
Norma Leonard Carbonell
Publikováno v:
Edusol, Vol 11, Iss 34, Pp 42-49 (2017)
Con el presente trabajo se pretende hacer un breve acercamiento a un tema muy necesario para garantizar resultados de calidad en el aprendizaje, se concibe a partir de insuficiencias encontradas en la determinación de los momentos, aspectos e indica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::8bfc308a25240cad4743884cf296d4f5
http://edusol.cug.co.cu/index.php/EduSol/editor/submission/260
http://edusol.cug.co.cu/index.php/EduSol/editor/submission/260
Autor:
Isabella Ceccherini, Izabela Harabula, Peter Krawitz, Bjørt K Kragesteen, Debra E. Weese-Mayer, Malte Spielmann, Stefan Mundlos, Norma Leonard, Luis R. Hernandez-Miranda, Carmen Birchmeier
Publikováno v:
Journal of Medical Genetics. 54:754-761
Background Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening disorder of respiratory and autonomic regulation. It is classically caused by dominant mutations in the transcription factor PHOX2B . The objective of the presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41509401cc5c6b2d0f6b63d889de1008
https://doi.org/10.1136/jmedgenet-2017-104765
https://doi.org/10.1136/jmedgenet-2017-104765
Autor:
Oana Caluseriu, Denis Arutyunov, Hanna Kolski, Atilano Lacson, Daniel Brandwein, Elaine M. Leslie, Cassandra Janetzki‐Flatt, Monica Baradi, Norma Leonard, Stacey Hume, Emmanuelle Cordat, Mayukh Banerjee, James Watt
Publikováno v:
Human mutation. 40(10)
A subset of a larger and heterogeneous class of disorders, the congenital myasthenic syndromes (CMS) are caused by pathogenic variants in genes encoding proteins that support the integrity and function of the neuromuscular junction (NMJ). A central c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579f93b1587d3a4dff6d01d6fdaccdc5
https://pubmed.ncbi.nlm.nih.gov/31299140
https://pubmed.ncbi.nlm.nih.gov/31299140
Publikováno v:
Paediatrics Publications
We describe four phenotypically different brothers who share the same microduplication of Xq27.1, which contains the SOX3 gene. SOX3 mutations have been associated with growth hormone deficiency, variable degrees of additional pituitary hormone defic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57d62b070ae18500657bf700ad28d97c
https://doi.org/10.1515/jpem-2015-0131
https://doi.org/10.1515/jpem-2015-0131
Autor:
Charlotte M. Douglas, Beatrice P. To, Diana A. Dinon, Charlene M.T. Robertson, Laurie Usher, Norma Leonard, Elizabeth E. Leonard, Karin T. Bork, Hope A. Valeriote
Publikováno v:
The Journal of pediatrics. 198
Objectives To estimate the prevalence of childhood permanent hearing loss (PHL) after early cardiac surgery. Study design This prospective observational (1996-2015) study after complex cardiac surgery with cardiopulmonary bypass at ≤6 weeks of life
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e53ca4aa18295bb9ddf2732352e1227
https://pubmed.ncbi.nlm.nih.gov/29936970
https://pubmed.ncbi.nlm.nih.gov/29936970