Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Karin Panzer"'
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100362- (2023)
Externí odkaz:
https://doaj.org/article/67fd629c361b48b3908e502414ea154e
Autor:
Ashley Cannon, Heather B. Radtke, Allison L. Goetsch, Caroline McGowan, Amanda L. Bergner, Karin Panzer
Publikováno v:
Journal of Genetic Counseling. 29:692-714
The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic counseling services to individuals and families undergoing evaluation for neurofibromatosis (NF
Autor:
Fowzan S. Alkuraya, Eric J. Mallack, Ingrid M. Wentzensen, John Karl de Dios, Subhadra Ramanathan, Robin D. Clark, Alpa Sidhu, Mais Hashem, Valérie Cormier-Daire, Maya Chopra, Danita Velasco, Shenela Lakhani, Lois J. Starr, Emily Singh, Didier Lacombe, Karin Panzer, Chloe Whitton, Elizabeth E. Palmer, Vincent Michaud, Lance H. Rodan, Christoffer Nellåker
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 100 (4), pp.468-477. ⟨10.1111/cge.14022⟩
Clinical Genetics, Wiley, 2021, 100 (4), pp.468-477. ⟨10.1111/cge.14022⟩
We describe the clinical features of nine unrelated individuals with rare de novo missense or in-frame deletions/duplications within the « HX motif » of exon 7 of ATN1. We previously proposed that individuals with such variants should be considered
Autor:
null Elizabeth E. Palmer, null Chloe Whitton, null Mais O. Hashem, null Robin D. Clark, null Subhadra Ramanathan, null Lois J. Starr, null Danita Velasco, null John Karl De Dios, null Emily Singh, null Valerie Cormier‐Daire, null Maya Chopra, null Lance H. Rodan, null Christoffer Nellaker, null Shenela Lakhani, null Eric J. Mallack, null Karin Panzer, null Alpa Sidhu, null Ingrid M. Wentzensen, null Didier Lacombe, null Vincent Michaud, null Fowzan S. Alkuraya
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af27e6355f3ad15f2dffd84397e8133c
https://doi.org/10.1111/cge.14022/v2/response1
https://doi.org/10.1111/cge.14022/v2/response1
Autor:
Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
Publikováno v:
Human Mutation. 41:299-315
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% o
Autor:
John K. Petty, Pamela Trapane, Albino Bacolla, Zhiyv Niu, Qian Liu, David Zhang, Nina G. Xie, Rui Xiao, Patrick E. Lantz, Lucia R. Wu, Balagangadhar R. Totapally, Przemyslaw Szafranski, Karin Panzer, Justyna A. Karolak, Pawel Stankiewicz
Publikováno v:
American Journal of Medical Genetics Part A. 179:2272-2276
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disease. Affected infants manifest with severe respiratory distress and refractory pulmonary hypertension and uniformly die in the first mo
Autor:
Renkui Bai, John M. Graham, Margaret G. Au, Maria Gabriela Otero, Emmanuelle Tiongson, Jaemin Kim, Francisca Millian Zamora, Tyler Mark Pierson, Katherine D. Mathews, Hong Cui, Ashley Collier, Katrina Haude, Cynthia J. Tifft, Frank Diaz, David H. Adams, Camilo Toro, Lesley Turner, David Buckley, Karin Panzer, Richard A. Lewis, William A. Gahl
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, vol 6, iss 1
Annals of clinical and translational neurology, vol 6, iss 1
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families. We report four subjects with features th
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
Steroid 3-beta hydroxysteroid dehydrogenase type II (3β-HSD2) deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). We report the genetic basis of 3β-HSD2 deficiency arising from uniparental isodisomy (UPD) of chrom
Autor:
Takashi Shawn Sato, F.A. De Stefano, Karin Panzer, David K. Meyerholz, Benjamin W. Darbro, Rajesh Khanna, Dawn E. Quelle, Jessica C. Sieren, Jill M. Weimer, Johanna Uthoff
Publikováno v:
J Neuroradiol
BACKGROUND. –: This study explores whether objective, quantitative radiomic biomarkers derived from magnetic resonance (MR), positron emission tomography (PET), and computed tomography (CT) may be useful in reliably distinguishing malignant periphe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d422f8a7bbd8d3537e0df4c71995cce0
https://europepmc.org/articles/PMC6310110/
https://europepmc.org/articles/PMC6310110/
Autor:
Dawn E. Quelle, Adam Goeken, Chun Hung Chan, Rebecca D. Dodd, Frank Rohret, Jessica C. Sieren, Johanna Uthoff, Song Cai, Katherine A. White, Aubin Moutal, Emily Hammond, Margaret R. Wallace, Benjamin W. Darbro, Jill M. Weimer, Shreya S. Bellampalli, Amy H. Tang, Vicki J. Swier, Hua Li, Munir R. Tanas, Jacob T. Cain, Shaikamjad Umesalma, Wennan Li, Jordan L. Kohlmeyer, Christopher S. Rogers, David K. Meyerholz, Mariah R. Leidinger, Karin Panzer, Rajesh Khanna
Publikováno v:
JCI Insight. 3
Loss of the NF1 tumor suppressor gene causes the autosomal dominant condition, neurofibromatosis type 1 (NF1). Children and adults with NF1 suffer from pathologies including benign and malignant tumors to cognitive deficits, seizures, growth abnormal