Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Jean Baptiste LePichon"'
Autor:
Sean M. Riordan, Douglas C. Bittel, Jean-Baptiste LePichon, Silvia Gazzin, Claudio Tiribelli, Jon F Watchko, Richard P. Wennberg, Steven M. Shapiro
Publikováno v:
Frontiers in Neuroscience, Vol 10 (2016)
Genetic-based susceptibility to bilirubin neurotoxicity and chronic bilirubin encephalopathy (kernicterus) is still poorly understood. Neonatal jaundice affects 60-80% of newborns, and considerable effort goes into preventing this relatively benign c
Externí odkaz:
https://doaj.org/article/fa6cc01a58e74f8dada576288150868f
Publikováno v:
Clinical genetics. 100(6)
This retrospective cohort study was designed to determine the yield of genetic tests in hypotonic infants and develop a diagnostic algorithm. Out of 496 patients identified by ICD 9/10 coding, 324 patients met the inclusion criteria. Diagnostic yield
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fffff559e6925894f5cf2396cba435d2
https://pubmed.ncbi.nlm.nih.gov/34480364
https://pubmed.ncbi.nlm.nih.gov/34480364
Autor:
Yasmin Khakoo, Lori C. Jordan, Jean-Baptiste LePichon, Mark S. Scher, Donald L. Gilbert, Galen N. Breningstall
Publikováno v:
Pediatric neurology. 86
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93abaa57b6315a54eb42a9423a59fec3
https://pubmed.ncbi.nlm.nih.gov/30390955
https://pubmed.ncbi.nlm.nih.gov/30390955
Autor:
Jean Baptiste Lepichon, Xinping Liu, Laurie D. Smith, Richard W. Gross, Stephen F. Kingsmore, Eugenio Taboada, Keith A. Coffman, Carol J Saunders, Margaret Gibson, Emily G. Farrow, Isabelle Thiffault, Neil A. Miller, Melanie Patterson, Sung Ho Moon
Publikováno v:
Human Mutation. 36:301-306
Mitochondriopathies are a group of clinically heterogeneous genetic diseases caused by defects in mitochondrial metabolism, bioenergetic efficiency, and/or signaling functions. The large majority of proteins involved in mitochondrial function are enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a479735dc47174583b9236f0d31db9
https://doi.org/10.1002/humu.22743
https://doi.org/10.1002/humu.22743
Autor:
Lori C. Jordan, Jean-Baptiste LePichon, Donald L. Gilbert, Galen N. Breningstall, Mark S. Scher, Yasmin Khakoo
Publikováno v:
Pediatric neurology. 75
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f540ad2d049f7e6d3cfde50df99a66b0
https://pubmed.ncbi.nlm.nih.gov/28826612
https://pubmed.ncbi.nlm.nih.gov/28826612
Autor:
Galen N. Breningstall, Mark S. Scher, Yasmin Khakoo, Donald L. Gilbert, Jean-Baptiste LePichon, Lori C. Jordan
Publikováno v:
Pediatric Neurology. 101:1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c9dfc47dde8fe351b28e757576d80ec
https://doi.org/10.1016/j.pediatrneurol.2019.09.001
https://doi.org/10.1016/j.pediatrneurol.2019.09.001
Publikováno v:
American Journal of Medical Genetics Part A. :1300-1304
We identified a novel homozygous 15q13.3 microdeletion in a young boy with a complex neurodevelopmental disorder characterized by severe visual impairment, hypotonia, profound intellectual disability, and refractory epilepsy. The homozygous deletion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07c27eae92d8c5fb9cfa781d31c15569
https://doi.org/10.1002/ajmg.a.33374
https://doi.org/10.1002/ajmg.a.33374
Autor:
Laurel K. Willig, Ann C. Modrcin, Zhaohui Ye, Nicole P. Safina, Darrell L. Dinwiddie, Aaron Noll, Carol J Saunders, Xuan Yuan, Josh E Petrikin, Sarah S. Nyp, Robert A. Brodsky, Britton Zuccarelli, Mitchell Creed, Jean Baptiste LePichon, Neil A. Miller, Laurie D. Smith, Isabelle Thiffault, Lee Zellmer, Suzanne Herd, Andrea M. Atherton, Sarah E Soden, Bryce A. Heese, Ahmed Abdelmoity, Greyson P Twist, Emily G. Farrow, Stephen F. Kingsmore, Ingrid A. Larson
Publikováno v:
Science Translational Medicine. 6
Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::451cbf91f767c881f986a572affa97ec
https://doi.org/10.1126/scitranslmed.3010076
https://doi.org/10.1126/scitranslmed.3010076
Autor:
Shihui Yu, Sarah E Soden, Carol A. Daniel, Ahmed Abdelmoity, Sarah S. Nyp, Jean-Baptiste LePichon
Publikováno v:
Journal of developmental and behavioral pediatrics : JDBP. 33(7)
Deletion within the proximal region of chromosome 15q11.2 between breakpoints 1 and 2 (BP1-BP2) has been proposed to be a risk factor for intellectual disability, seizure, and schizophrenia. However, the clinical significance of its reciprocal duplic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d45900e443bdce8b90f9299d91d15162
https://pubmed.ncbi.nlm.nih.gov/22922608
https://pubmed.ncbi.nlm.nih.gov/22922608