Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features

Autor: Ranji Chibbar, John A Gjevre, Francis Shih, Heather Neufeld, Edmond G Lemire, Derek A Fladeland, Donald W Cockcroft

Publikováno v: Canadian Respiratory Journal, Vol 17, Iss 6, Pp 269-274 (2010)

A large kindred of familial pulmonary fibrosis is reported. Six members from the first two generations of this particular kindred were described more than 40 years previously; six more individuals from the third and fourth generations have also been

Externí odkaz: https://doaj.org/article/038a90b29dde46d9bbe305aba573a92a

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Autor: Jonathan Rodgers, Antonia Marchese, Frances Elmslie, Claudine Rieubland, Noriko Miyake, Sophie Julia, Ingrid Scurr, Emmanuel Scalais, Diana S. Johnson, Elise Brischoux-Boucher, Melissa Byler, Lisa Bradley, Julie McGaughran, Siddharth Banka, Maria Gnazzo, Robert Roger Lebel, Stephanie Goh, Damien Lederer, Jane A. Hurst, Maria Cristina Digilio, Ineke van der Burgt, Nobuhiko Okamoto, Mohnish Suri, Víctor Faundes, Rhoda Akilapa, Harinder Gill, Hans T. Bjornsson, Edmond G. Lemire, Saskia Bulk, Katherine Lachlan, Han G. Brunner, Andrew E. Fry, Eric Gershon, Maria Lisa Dentici, Erina Sasaki, Valérie Benoit, Heidre Bezuidenhout, Natalie Canham, Naomichi Matsumoto, Angela F. Brady, Declan Cody, Meriel McEntagart, Seiji Mizuno, Francesca Romana Lepri

Publikováno v: Web of Science
Faundes, V, Goh, S, Akilapa, R, Bezuidenhout, H, Bjornsson, H T, Brady, A F, Brischoux-Boucher, E, Brunner, H, Bulk, S, Canham, N, Cody, D, Dentici, M L, Digilio, M C, Elmslie, F, Fry, A E, Gill, H, Hurst, J, Johnson, D, Julia, S, Lachlan, K, Lebel, R R, Byler, M, Gershon, E, Lemire, E, Gnazzo, M, Lepri, F R, Marchese, A, McEntagart, M, McGaughran, J, Mizuno, S, Okamoto, N, Rieubland, C, Sasaki, E, Scalais, E, Scurr, I, Suri, M, van der Burgt, I, Matsumoto, N, Miyake, N, Benoit, V, Lederer, D & Banka, S 2021, ' Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01119-8
Genetics in Medicine
Genetics in Medicine, 23, 7, pp. 1202-1210
Genetics in Medicine, 23, 1202-1210
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; ... (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine, 23(7), pp. 1202-1210. Springer Nature 10.1038/s41436-021-01119-8

Contains fulltext : 237823.pdf (Publisher’s version ) (Open Access) PURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. METHODS: Genetic and clinical details of new and published individua

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf9501e03c8ad1cdd39bcc6f535c4fb

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome

Autor: Tara Scriver, Rikash Jokhan, Jeremy R. Parr, Barbara Kellam, Edmond G. Lemire, Worrawat Engchuan, Stephen W. Scherer, Mehdi Zarrei, Dimitri J. Stavropoulos, Daniele Merico, Michael D. Wilson

Publikováno v: American Journal of Medical Genetics Part A. 173:1287-1293

We present an 18-year-old boy with cerebral palsy, intellectual disability, speech delay, and seizures. He carries a likely pathogenic 1.3 Mb de novo heterozygous deletion in the 4q21.22 microdeletion syndrome region. He also carries a 436 kb materna

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe85379389ed65172992c174f9d7a5df
https://doi.org/10.1002/ajmg.a.38176

Complex genomic rearrangements in the dystrophin gene due to replication‐based mechanisms

Autor: Berivan Baskin, Paige A. Rebeiro, Leslie Steele, Peter N. Ray, Jennifer Orr, Dimitri J. Stavropoulos, Kym M. Boycott, William T. Gibson, Christian R. Marshall, Edmond G. Lemire, Martin Li

Publikováno v: Molecular Genetics & Genomic Medicine

Genomic rearrangements such as intragenic deletions and duplications are the most prevalent type of mutations in the dystrophin gene resulting in Duchenne and Becker muscular dystrophy (D/BMD). These copy number variations (CNVs) are nonrecurrent and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fdb80d2c33f222547759c8faba8eca9
https://doi.org/10.1002/mgg3.108

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor

Autor: Gilad D, Evrony, Dwight R, Cordero, Jun, Shen, Jennifer N, Partlow, Timothy W, Yu, Rachel E, Rodin, R Sean, Hill, Michael E, Coulter, Anh-Thu N, Lam, Divya, Jayaraman, Dianne, Gerrelli, Diana G, Diaz, Chloe, Santos, Victoria, Morrison, Antonella, Galli, Ulrich, Tschulena, Stefan, Wiemann, M Jocelyne, Martel, Betty, Spooner, Steven C, Ryu, Princess C, Elhosary, Jillian M, Richardson, Danielle, Tierney, Christopher A, Robinson, Rajni, Chibbar, Dana, Diudea, Rebecca, Folkerth, Sheldon, Wiebe, A James, Barkovich, Ganeshwaran H, Mochida, James, Irvine, Edmond G, Lemire, Patricia, Blakley, Christopher A, Walsh

Publikováno v: Genome research. 27(8)

While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the “low hanging fruit” of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::029011ff8325456af381c7ebd6ca280b
https://pubmed.ncbi.nlm.nih.gov/28630177