Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Meaghan K. Russell"'
Autor:
Lauren Bellfy, Mallory Ryan, Mauro Longoni, Charles Lee, M. P. Joy, Patricia K. Donahoe, Chengsheng Zhang, Pooja Bhayani, Meaghan K. Russell, Eliza Cerveira, Caroline Coletti, Adam Mil-homens, Regis Hila, Qihui Zhu, Jay M. Wilson, Frances A. High
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance This study describes the results of a large-scale case control analysis of copy number variants (CNVs) in a cohort of patients with congenital diaphragmatic hernia (CDH) and a large number of healthy population-matched controls. Using a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c4dfc1dfadbde1c5d89e0a28a93232e
https://doi.org/10.1073/pnas.1714885115
https://doi.org/10.1073/pnas.1714885115
Autor:
Charles Kai-Wu Lee, Adam Tracy, Meaghan K. Russell, Julie Wells, Kate G. Ackerman, Alireza Kashani, Frances A. High, Carol J. Bult, Caroline Coletti, Kasper Lage, Barbara R. Pober, Patricia K. Donahoe, Mauro Longoni, Regis Hila, Ahmed Shamia, Jay M. Wilson
Publikováno v:
Proceedings of the National Academy of Sciences. 111:12450-12455
Congenital diaphragmatic hernia (CDH) is a common and severe birth defect. Despite its clinical significance, the genetic and developmental pathways underlying this disorder are incompletely understood. In this study, we report a catalog of variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d1366f7689662c9cb4d0083c77449a0
https://doi.org/10.1073/pnas.1412509111
https://doi.org/10.1073/pnas.1412509111
Autor:
Alireza Kashani, S A Woods, Kasper Lage, Faouzi I. Maalouf, Mauro Longoni, Frances A. High, D Andrews, C Ward-Melver, Charles Lee, Caroline Coletti, Patricia K. Donahoe, Katayoon Darvishi, Maria Loscertales, Adam Tracy, Barbara R. Pober, Meaghan K. Russell, Kate G. Ackerman
Publikováno v:
Clinical Genetics. 87:362-367
Zinc finger protein, FOG2 family member 2 (ZFPM2) (previously named FOG2) gene defects result in the highly morbid congenital diaphragmatic hernia (CDH) in humans and animal models. In a cohort of 275 CDH patient exomes, we estimated the prevalence o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e05e57f59b0fbd0fbfc9ac22d03d55b2
https://doi.org/10.1111/cge.12395
https://doi.org/10.1111/cge.12395
Autor:
Dian Donnai, N. Simon Thomas, Patricia K. Donahoe, Sibel Kantarci, F. Lucy Raymond, Nicola K. Ragge, Meaghan K. Russell, Barbara R. Pober, Christopher A. Walsh, Kristin M. Noonan, David O. Robinson
Publikováno v:
American Journal of Medical Genetics Part A. :1842-1847
Donnai-Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d31bdfae8ad84dd939c8b047002812b8
https://doi.org/10.1002/ajmg.a.32381
https://doi.org/10.1002/ajmg.a.32381
Autor:
Meaghan K. Russell, Tamer Alpagot, Alice M. Lee, Jamie L. Galvin, Susan K. Boches, Bruce J. Paster, Floyd E. Dewhirst
Publikováno v:
Annals of Periodontology. 7:8-16
Necrotizing ulcerative periodontitis (NUP) is a painful and potentially debilitating affliction that affects about 2% to 6% of HIV-positive subjects. NUP may be caused by specific microorganisms that are presently unknown or by microbial species not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::335434285dbab0f6b015e42646470a34
https://doi.org/10.1902/annals.2002.7.1.8
https://doi.org/10.1902/annals.2002.7.1.8
Autor:
Mauro Longoni, Shelagh Joss, Katrina Prescott, Ihab Sakr Shaheen, Meaghan K. Russell, Eric Finlay
Publikováno v:
Clinical Dysmorphology. 19:35-37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6906dfc0a1b3cb860b0cebefdf2b1c6
https://doi.org/10.1097/mcd.0b013e328333c20a
https://doi.org/10.1097/mcd.0b013e328333c20a
Autor:
Alan F. Rope, Jeroen Breckpot, Osamu Shimokawa, Ji H. Park, Steven B. Bleyl, Adam Tracy, Faouzi I. Maalouf, Elaine H. Zackai, Chih P. Chen, Dagmar Wieczorek, Kasper Lage, Caroline Coletti, Mauro Longoni, Maria Loscertales, Patricia K. Donahoe, Omar A. Abdul-Rahman, Paul Brady, Gabriele Gillessen-Kaesbach, Koenraad Devriendt, Kristin M. Noonan, Arthur Grix, Charles Lee, Barbara R. Pober, Gareth Baynam, Bernarda Strauss, Meaghan K. Russell
Publikováno v:
American journal of medical genetics. Part A. (12)
Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high-resolution arrays in patients who carry a loss (n = 18) or a gain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20c5f8f4d9389734d35be5836e01e8fc
https://pubmed.ncbi.nlm.nih.gov/23165946
https://pubmed.ncbi.nlm.nih.gov/23165946
Autor:
Kristin M. Noonan, Rafael Pieretti Vanmarcke, Sibel Kantarci, Xiaoyun Zhang, Paul S. Dickman, Carrie Sougnez, Mauro Longoni, Meaghan K. Russell, Eli Hatchwell, Kate G. Ackerman, Jay M. Wilson, Kwame Anyane-Yeboa, Barbara R. Pober, Patricia K. Donahoe
Cytogenetic and molecular cytogenetic studies demonstrate association between congenital diaphragmatic hernia (CDH) and chromosome 1q41q42 deletions. In this study, we screened a large CDH cohort (N=179) for microdeletions in this interval by the mul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::083e9bf1885bbaad06c16a0b8734711a
https://europepmc.org/articles/PMC3797530/
https://europepmc.org/articles/PMC3797530/
Autor:
Graeme C.M. Black, David T. MacLaughlin, Eric Bieth, Didier Lacombe, Meaghan K. Russell, R. Sean Hill, Lihadh Al-Gazali, Sibel Kantarci, Ahmad S. Teebi, Koenraad Devriendt, Tianming Liu, Barbara R. Pober, Nicolas Chassaing, Dian Donnai, Caroline D. Robson, Patricia K. Donahoe, Kristin M. Noonan, Maria Loscertales, Christopher A. Walsh
Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. By studying multiplex families, we mapped this dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a999c7c1208a136adf47343f694a4b
https://europepmc.org/articles/PMC2891728/
https://europepmc.org/articles/PMC2891728/
Autor:
Russell W. Jennings, Meaghan K. Russell, Barbara R. Pober, Patricia K. Donahoe, Virginia Kimonis, S M Manning, L. Wilkins Haug, Sibel Kantarci, David A. Casavant, Janice L. B. Byrne, Lewis B. Holmes, Charles Lee, Theonia K. Boyd, J. P. Fryns, Carlos E. Prada
Publikováno v:
American journal of medical genetics. Part A. 140(1)
Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied arra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d095529a3c74f7f95771472e3cec213
https://pubmed.ncbi.nlm.nih.gov/16333846
https://pubmed.ncbi.nlm.nih.gov/16333846