Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Melanie Lacaria"'
Autor:
Melanie Lacaria, Matthew Henderson, Ed Yeh, Sara Fernandez, Kelsey Kalbfleisch, Kristin Kernohan, Pranesh Chakraborty
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101525- (2024)
Externí odkaz:
https://doaj.org/article/e55a89e6580e4bf580a6611ee30bc638
Autor:
Alessandra Pasut, Natasha C. Chang, Uxia Gurriaran Rodriguez, Sharlene Faulkes, Hang Yin, Melanie Lacaria, Hong Ming, Michael A. Rudnicki
Publikováno v:
Cell Reports, Vol 16, Iss 2, Pp 333-343 (2016)
Pax7 is a nodal transcription factor that is essential for regulating the maintenance, expansion, and myogenic identity of satellite cells during both neonatal and adult myogenesis. Deletion of Pax7 results in loss of satellite cells and impaired mus
Externí odkaz:
https://doaj.org/article/af7dbb4bd61f48078eca529bc2aaa1b9
Autor:
Melanie Lacaria, Pradip Saha, Lorraine Potocki, Weimin Bi, Jiong Yan, Santhosh Girirajan, Brooke Burns, Sarah Elsea, Katherina Walz, Lawrence Chan, James R Lupski, Wenli Gu
Publikováno v:
PLoS Genetics, Vol 8, Iss 5, p e1002713 (2012)
The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS), manifesting ob
Externí odkaz:
https://doaj.org/article/781010d410144e9f94610d260646542a
Autor:
Hernan Gonorazky, Melanie Lacaria, Ed Yeh, Mark A. Tarnopolsky, Pranesh Chakraborty, James J. Dowling, Craig Campbell, Janet Marcadier, Jiri Vajsar, Michael Kowalski, Kristin D. Kernohan, Alex MacKenzie, Hugh J. McMillan
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 49:821-823
Publikováno v:
Cancer Genetics. :100-104
Lipoma is a benign tumor, typically of adulthood, with characteristic cytogenetic findings, including rearrangement of 12q13-15; these rearrangements often lead to the fusion of the HMGA2 gene at this locus to the transcriptional regulatory domain of
Publikováno v:
American Journal of Medical Genetics Part A. 161:1561-1568
Smith–Magenis syndrome (SMS; OMIM 182290) is a genomic disorder characterized by multiple congenital anomalies, intellectual disability, behavioral abnormalities, and disordered sleep resulting from an ∼3.7 Mb deletion copy number variant (CNV) o
Autor:
Jacek Majewski, Myriam Srour, Kym M. Boycott, Melanie Lacaria, Elka Miller, Claire Goldsmith, Jacques L. Michaud, Asif Doja, Jeremy Schwartzentruber
Publikováno v:
American journal of medical genetics. Part A. 173(6)
Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we presen
Publikováno v:
Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb8e06359de5167979fe21ff151fbf1b
https://doi.org/10.1093/med/9780199934522.003.0134
https://doi.org/10.1093/med/9780199934522.003.0134
Publikováno v:
Adipocyte
A contribution of structural genomic variation to the heritability of complex metabolic phenotypes was illuminated by the recent characterization of chromosome-engineered mouse models for genomic disorders associated with metabolic dysfunction. Herei
Autor:
Melanie Lacaria, James R. Lupski
Publikováno v:
Recent Advances in Autism Spectrum Disorders-Volume I
Many of the recent advances in autism research that have provided fundamental insight into this condition have come from the application of genetic/genomic approaches; these advances have been fomented by the advent of new technologies to interrogate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dacbb1abb55b006f5dfc1a9336b29153
http://www.intechopen.com/articles/show/title/advances-in-autism-research-the-genomic-basis-of-asd
http://www.intechopen.com/articles/show/title/advances-in-autism-research-the-genomic-basis-of-asd