Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Nicole P. Safina"'
Autor:
Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
Abstract Background Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Externí odkaz:
https://doaj.org/article/b2506092c6044442b77579414d9b560b
Autor:
Simon Lebaron, Marie‐Françoise O'Donohue, Scott C. Smith, Kendra L. Engleman, Jane Juusola, Nicole P. Safina, Isabelle Thiffault, Carol J. Saunders, Pierre‐Emmanuel Gleizes
Publikováno v:
Human mutationREFERENCES. 43(3)
Diamond-Blackfan anemia is a rare genetic disease characterized by erythroblastopenia and a large spectrum of developmental anomalies. The vast majority of the cases genetically described are linked to heterozygous pathogenic variants in more than 20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21c88eb900979fef9593b1f873bf51c6
https://pubmed.ncbi.nlm.nih.gov/34961992
https://pubmed.ncbi.nlm.nih.gov/34961992
Autor:
Benjamin Cogné, Stephen Sanders, François Rivier, Tahir N. Khan, Mireille Claustres, Gaetan Lesca, Lihadh Al-Gazali, Annick Vogels, Sarah Weckhuysen, Nicholas Katsanis, Stéphane Bézieau, Thomas Besnard, Maxime Cadieux-Dion, Julitta de Bellescize, Katrin Õunap, Anne Boland, Aurora Pujol, Monica H. Wojcik, Maria J. Guillen Sacoto, Paul Rollier, Laurent Pasquier, Bertrand Isidor, Sébastien Küry, Hilde Van Esch, Aisha Al Shamsi, Megan T. Cho, Kyle Retterer, Michel Koenig, Christèle Dubourg, Andreas G. Chiocchetti, Damien Sanlaville, Erica E. Davis, Claire Guissart, Sander Pajusalu, Hannah Stamberger, Xenia Latypova, Shannon Sattler, Souphatta Sasorith, Isabelle Thiffault, Marie Vincent, Nicolas Leboucq, Irman Forghani, Lynn Schema, Sylvie Odent, Marie T. McDonald, Lauren E. Grote, Susanne Kjaergaard, Wilfrid Carré, Rena Pressman, Emily G. Farrow, Jean-François Deleuze, Carol J Saunders, Deborah Barbouth, Danielle Karlowicz, Nicole P. Safina, Kirsty McWalter, Christine M. Freitag, Wim Van Paesschen, Rebecca Willaert
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
Dipòsit Digital de la UB
Universidad de Barcelona
The American journal of human genetics
American Journal of Human Genetics, 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
American journal of human genetics, vol 102, iss 5
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
Dipòsit Digital de la UB
Universidad de Barcelona
The American journal of human genetics
American Journal of Human Genetics, 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
American journal of human genetics, vol 102, iss 5
RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c4e5c340742bf73c530ddc48aa0dec0
https://doi.org/10.1016/j.ajhg.2018.02.021
https://doi.org/10.1016/j.ajhg.2018.02.021
Autor:
Nikita Raje, Maxime Cadieux-Dion, Kristi Canty, Neil A. Miller, Elena Repnikova, Isabelle Thiffault, Emily G. Farrow, Lee Zellmer, Nicole P. Safina, Carol J Saunders, Kendra Engleman
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
BMC Medical Genetics
BMC Medical Genetics
Background Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d56547dfb8e6b6a1c2cd833f15bd1cbb
http://link.springer.com/article/10.1186/s12881-018-0556-2
http://link.springer.com/article/10.1186/s12881-018-0556-2
Autor:
Bobby P. C. Koeleman, Volker Mall, Wen-Hann Tan, Rachel Slaugh, Ralitza H. Gavrilova, Yue Si, Shelley Towner, Aditi Gupta, Emily Bryant, Yasemin Dincer, Matias Wagner, Michael Zech, Sakshi Singh, Koen L.I. van Gassen, Jorge L. Granadillo, Rhonda E. Schnur, Nicole P. Safina, Ashley N. Sigafoos, Eric W. Klee, Jennifer B. Humberson, Eva H. Brilstra, Sunita N. Misra, Tracy Brandt, Juliane Winkelmann, Francisca Millan, Sarah R Green, Kendra Engleman, Karl J. Clark, G. Bradley Schaefer
Publikováno v:
Genetics in Medicine
Genet. Med. 22, 1413–1417 (2020)
Genet. Med. 22, 1413–1417 (2020)
Purpose: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene. Methods: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a040824e9082d38f1a1cf93d370953f
https://mediatum.ub.tum.de/doc/1546889/document.pdf
https://mediatum.ub.tum.de/doc/1546889/document.pdf
Autor:
Eric Chater-Diehl, Michelle T. Siu, Sharron Townshend, Evdokia Anagnostou, Omar A. Abdul-Rahman, Stephen W. Scherer, Sarah J. Goodman, Rosanna Weksberg, Resham Ejaz, Matthew A. Deardorff, Michael Brudno, Andrei L. Turinsky, Laurence Perrin, Melanie Bedford, Cheryl Cytrynbaum, Roberto Mendoza-Londono, Kendra Engleman, Naghmeh Dorrani, Sanaa Choufani, Nicole P. Safina, David Geneviève, Wendy S. Meschino, David Chitayat, Josue Flores-Daboub, Amélie Piton
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, BioMed Central, 2019, 12 (1), ⟨10.1186/s12920-019-0555-y⟩
BMC Medical Genomics, 2019, 12 (1), ⟨10.1186/s12920-019-0555-y⟩
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-14 (2019)
BMC Medical Genomics, BioMed Central, 2019, 12 (1), ⟨10.1186/s12920-019-0555-y⟩
BMC Medical Genomics, 2019, 12 (1), ⟨10.1186/s12920-019-0555-y⟩
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-14 (2019)
Background Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::789dc45356aae37c4cc51fad50f255af
https://doi.org/10.1186/s12920-019-0555-y
https://doi.org/10.1186/s12920-019-0555-y
Publikováno v:
Encyclopedia of Medical Immunology ISBN: 9781461492092
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0636a55a13e45ced04841f628c594439
https://doi.org/10.1007/978-1-4614-9209-2_181-1
https://doi.org/10.1007/978-1-4614-9209-2_181-1
Autor:
Carol J Saunders, Nicole P. Safina, Sultan Habeebu, Isabelle Thiffault, Priya Skaria, Eugenio Taboada, Alex Kats, Atif A. Ahmed
Publikováno v:
American journal of medical genetics. Part A. 176(2)
Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f14ef99d4e776eafcddc0c6e574eeb6
https://pubmed.ncbi.nlm.nih.gov/29274205
https://pubmed.ncbi.nlm.nih.gov/29274205
Publikováno v:
American Journal of Medical Genetics Part A. 164:48-53
CHARGE syndrome is an autosomal dominant malformation syndrome associated with mutations in CHD7. The condition is typically sporadic with few familial cases reported. The diagnosis of CHARGE syndrome is based on a combination of major and minor crit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833e648fb59affc9013dc5b784baf19a
https://doi.org/10.1002/ajmg.a.36192
https://doi.org/10.1002/ajmg.a.36192
Autor:
Kym M. Boycott, Erick Sell, Arran McBride, Martine Tétreault, Kristin D. Kernohan, Brooke E. Spangler, Lijia Huang, Eric A. Shoubridge, Geneviève Bernard, Taila Hartley, Virginia K. Proud, Mihaela Pupavac, David A. Dyment, Isabelle Thiffault, Samanta Vergano, David S. Rosenblatt, Zvi Cramer, Tara Myers, Jennifer Kussman, Jacek Majewski, Nicole P. Safina, Carol J Saunders, Aziz Mhanni, Emily G. Farrow, Isabella R Straub
Publikováno v:
Human mutation. 38(5)
Deleterious variants in the same gene present in two or more families with overlapping clinical features provide convincing evidence of a disease-gene association; this can be a challenge in the study of ultrarare diseases. To facilitate the identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2852fe756acac404f91dd7846081ed13
https://pubmed.ncbi.nlm.nih.gov/28185376
https://pubmed.ncbi.nlm.nih.gov/28185376