Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Autor: Elizabeth K. Fiorino, Lucia R. Wu, Nina G. Xie, David Mowat, Przemyslaw Szafranski, Gustavo Rocha, Luk Ho-ming, David P. Witte, Justyna A. Karolak, Denise A. Hayes, Edwina J. Popek, Susana Fernandes, Ashley Parrott, Pawel Stankiewicz, Joyce E. Fox, David Zhang, Ivan F M Lo, Morris Edelman, Qian Liu

Publikováno v: J Mol Diagn

Detection of low-level somatic mosaicism [alternate allele fraction (AAF) ≤ 10%] in parents of affected individuals with the apparent de novo pathogenic variants enables more accurate estimate of recurrence risk. To date, only a few systematic anal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::637c133c581e28704f0d6135cf25d8df
https://doi.org/10.1016/j.jmoldx.2019.12.007

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Autor: David Francis, Yves Sznajer, Lieve Vanwalleghem, Jennifer Kussmann, David A. Bateman, Gael E. Phillips, Scott A. Anderson, Elizabeth K. Fiorino, Przemyslaw Szafranski, Kamilla Schlade-Bartusiak, Neil J. Sebire, Pablo Lapunzina, Maya Chopra, Urvashi Surti, Isabelle Maystadt, Oliver Quarrell, Partha Sen, Jill Slamon, Avinash V. Dharmadhikari, Philippe Moerman, Liesbeth Spruijt, Dick Tibboel, Susan Arbuckle, Glenda Hendson, Jennifer Schuette, Nicole de Leeuw, Melissa Lees, Namasivayam Ambalavanan, Annelies de Klein, Svetlana A. Yatsenko, Joel Reiter, Joseph T. Shieh, Sandra Janssens, Gregory Peters, Jessica Sebastian, David R. Kelly, Eitan Kerem, Janet Lioy, Martina Owens, Gary Tsz Kin Mok, Carlos A. Bacino, Amy S. Lay, Shalini N. Jhangiani, Suneeta Madan-Khetarpal, Björn Menten, Elizabeth Roeder, Kadir C. Akdemir, Denise A. Hayes, Laurie A. Steiner, Taryn C. Rosenthal, Richard Sayers, Fernando Santos-Simarro, Ashley Wilson, Joyce E. Fox, Yoyo W. Y. Chu, Richard Fisher, Rebecca O. Littlejohn, Daynna J. Wolff, Wai Lap Wong, Timothy Thiruchelvam, Kristin Scheible, Zoe Mead, Eileen McKay, M. Anwar Iqbal, Erwin Brosens, Melinda H. Markham, Julián Nevado, Anne Loccufier, Rosanna G. Abellar, Tomasz Gambin, Charles Shaw-Smith, Alison Yeung, Pawel Stankiewicz, Nihal Godiwala, Elfride De Baere, Ilse Feenstra, Diane J. Payton, Girvan Malcolm, María Palomares, Morris Edelman, Claire Langston, Thomas S. DeNapoli, Margaret L. McKinnon, Carol L. Wagner, Brian H.Y. Chung, James R. Lupski, Dawn English, Alison Male, Edwina J. Popek, Frances Elmslie, Jasneek Chawla, Sara Jane Hamilton, Jason Pinner

Publikováno v: Human Genetics, 135, 5, pp. 569-86
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Contains fulltext : 168023.pdf (Publisher’s version ) (Closed access) Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940199cff9fdefb150d9d6b25e41e0da
https://doi.org/10.1007/s00439-016-1655-9

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

Autor: Blake C. Ballif, Maria Descartes, Joyce E. Fox, J. Britt Ravnan, Tracy Stroud, Sheila J. Upton, Jerome L. Gorski, Fallon Brewer, Nicholas J. Neill, Jill A. Rosenfeld, Lisa G. Shaffer, John B. Moeschler, Allen N. Lamb, Berrin Monteleone

Publikováno v: American journal of medical genetics. Part A. (2)

Uniparental disomy (UPD) for imprinted chromosomes can cause abnormal phenotypes due to absent or overexpression of imprinted genes. UPD(14)pat causes a unique constellation of features including thoracic skeletal anomalies, polyhydramnios, placentom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c33feb70be4a2e17a05524877c6d5ce0
https://pubmed.ncbi.nlm.nih.gov/25756153

Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect

Autor: Antonio Velázquez, Marvin E. Miller, Laurie Bernstein, Joyce E. Fox, Alan S. Ryan, Georgianne L. Arnold, Vyonne Lewis, Phyllis B. Acosta, Barbara J. Marriage, Steven Yannicelli, Magda Plewinska

Publikováno v: Molecular Genetics and Metabolism. 86:448-455

Background Poor growth has been described in patients with urea cycle enzyme defects treated with protein-restricted diets, while protein status is seldom reported. Objective To assess the effects of nutritional therapy with a medical food on growth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1344635f960413c95c3054e19025ea6e
https://doi.org/10.1016/j.ymgme.2005.08.012

Prenatal diagnosis of trisomy 4 mosaicism

Autor: Judith P. Willner, Jesse Jacob, Donna Blumenthal, Joyce E. Fox, Guy Pierno, Ann-Leslie Zaslav

Publikováno v: American Journal of Medical Genetics. 95:381-384

Trisomy 4 mosaicism is rare. To our knowledge only two cases of prenatally diagnosed trisomy 4 mosaicism have been reported. One case resulted in a normal liveborn male, the other resulted in an abnormal liveborn female. The karyotype of our case at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::15aa27fe640d7dfbb0660a0141d461c9
https://doi.org/10.1002/1096-8628(20001211)95:4<381::aid-ajmg15>3.0.co