Works matching AU Rush, Eric T.

Results: 27

The ALPL gene variant project: results of the first 100 reclassified variants Open Access.

Published in:

JBMR Plus, 2025, v. 9, n. 6, p. 1, doi. 10.1093/jbmrpl/ziaf044

By:

Farman, Mariam R;
Malli, Theodora;
Rehder, Catherine;
Webersinke, Gerald;
Rockman-Greenberg, Cheryl;
Dahir, Kathryn;
Martos-Moreno, Gabriel Á;
Linglart, Agnès;
Ozono, Keiichi;
Seefried, Lothar;
Angel, Guillermo del;
Barbazza, Francesca;
Shojaei, Sara;
Ebner-Jahn, Jessica;
Högler, Florian;
Nading, Erica B;
Huggins, Erin;
Rush, Eric T;
El-Gazzar, Ahmed;
Tauer, Josephine T

Publication type:

Article

Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

Published in:

2024

By:

Khan, Aliya A.;
Brandi, Maria Luisa;
Rush, Eric T.;
Ali, Dalal S.;
Al-Alwani, Hatim;
Almonaei, Khulod;
Alsarraf, Farah;
Bacrot, Severine;
Dahir, Kathryn M.;
Dandurand, Karel;
Deal, Chad;
Ferrari, Serge Livio;
Giusti, Francesca;
Guyatt, Gordon;
Hatcher, Erin;
Ing, Steven W.;
Javaid, Muhammad Kassim;
Khan, Sarah;
Kocijan, Roland;
Linglart, Agnes

Publication type:

Correction Notice

Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

Published in:

Osteoporosis International, 2024, v. 35, n. 3, p. 431, doi. 10.1007/s00198-023-06844-1

By:

Khan, Aliya A.;
Brandi, Maria Luisa;
Rush, Eric T.;
Ali, Dalal S.;
Al-Alwani, Hatim;
Almonaei, Khulod;
Alsarraf, Farah;
Bacrot, Severine;
Dahir, Kathryn M.;
Dandurand, Karel;
Deal, Chad;
Ferrari, Serge Livio;
Giusti, Francesca;
Guyatt, Gordon;
Hatcher, Erin;
Ing, Steven W.;
Javaid, Muhammad Kassim;
Khan, Sarah;
Kocijan, Roland;
Linglart, Agnes

Publication type:

Article

The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.

Published in:

Osteoporosis International, 2024, v. 35, n. 3, p. 439, doi. 10.1007/s00198-023-06859-8

By:

Brandi, Maria Luisa;
Khan, Aliya A.;
Rush, Eric T.;
Ali, Dalal S.;
Al-Alwani, Hatim;
Almonaei, Khulod;
Alsarraf, Farah;
Bacrot, Severine;
Dahir, Kathryn M.;
Dandurand, Karel;
Deal, Chad;
Ferrari, Serge Livio;
Giusti, Francesca;
Guyatt, Gordon;
Hatcher, Erin;
Ing, Steven W.;
Javaid, Muhammad Kassim;
Khan, Sarah;
Kocijan, Roland;
Lewiecki, E. Michael

Publication type:

Article

Improvement in quality of life after asfotase alfa treatment in adults with pediatric-onset hypophosphatasia: data from 5 patient-reported outcome measures.

Published in:

JBMR Plus, 2024, v. 8, n. 8, p. 1, doi. 10.1093/jbmrpl/ziae062

By:

Dahir, Kathryn M;
Ing, Steven W;
Deal, Chad;
Messali, Andrew;
Bates, Toby;
Rush, Eric T

Publication type:

Article

Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview.

Published in:

2019

By:

Rush, Eric T.;
Moseley, Scott;
Petryk, Anna

Publication type:

journal article

Childhood hypophosphatasia: to treat or not to treat.

Published in:

2018

By:

Rush, Eric T.

Publication type:

journal article

Gender dysphoria in adolescents with Ehlers–Danlos syndrome.

Published in:

SAGE Open Medicine, 2022, v. 10, p. 1, doi. 10.1177/20503121221146074

By:

Jones, Jordan T.;
Black, William R.;
Moser, Christine N.;
Rush, Eric T.;
Malloy Walton, Lindsey

Publication type:

Article

Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition?

Published in:

Clinical Case Reports, 2017, v. 5, n. 6, p. 748, doi. 10.1002/ccr3.931

By:

Fadus, Matthew C.;
Rush, Eric T.;
Lettieri, Christina K.

Publication type:

Article

Liver transplant for congenital factor VII deficiency.

Published in:

Pediatric Blood & Cancer, 2014, v. 61, n. 10, p. 1886, doi. 10.1002/pbc.25008

By:

Acquazzino, Melissa A.;
Rush, Eric T.;
Quiros Tejeira, Ruben E.;
Beck, Jill C.

Publication type:

Article

Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4‐related disease.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1515, doi. 10.1002/ajmg.a.62113

By:

Cadieux‐Dion, Maxime;
Hughes, Susan;
Engleman, Kendra;
Rush, Eric T.;
Saunders, Carol

Publication type:

Article

Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2428, doi. 10.1002/ajmg.a.38287

By:

Rush, Eric T.;
Baker, Craig V.;
Rizzo, William B.

Publication type:

Article

Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1726, doi. 10.1002/ajmg.a.35951

By:

Rush, Eric T.;
Stevens, Jadd M.;
Sanger, Warren G.;
Olney, Ann H.

Publication type:

Article

Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 320, doi. 10.1002/ajmg.a.35817

By:

Rush, Eric T.;
Adam, Margaret P.;
Clark, Robin D.;
Curry, Cynthia;
Hartmann, Julianne E.;
Dobyns, William B.;
Olney, Ann Haskins

Publication type:

Article

The Medical Writing Center Model in an Academic Teaching Hospital.

Published in:

Journal of Clinical Psychology in Medical Settings, 2024, v. 31, n. 4, p. 742, doi. 10.1007/s10880-024-10020-w

By:

McNeill, Heather C.;
Hill, Jacqueline D.;
Chandler, Myles;
Rush, Eric T.;
Montello, Martha

Publication type:

Article

Gender dysphoria in adolescents with Ehlers-Danlos syndrome.

Published in:

SAGE Open Medicine, 2022, v. 10, p. 1, doi. 10.1177/20503121221146074

By:

Jones, Jordan T.;
Black, William R.;
Moser, Christine N.;
Rush, Eric T.;
Walton, Lindsey Malloy

Publication type:

Article

Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.

Published in:

Journal of Bone & Mineral Research, 2022, v. 37, n. 2, p. 202, doi. 10.1002/jbmr.4454

By:

Rush, Eric T.;
Johnson, Britt;
Aradhya, Swaroop;
Beltran, Daniel;
Bristow, Sara L.;
Eisenbeis, Scott;
Guerra, Norma E.;
Krolczyk, Stan;
Miller, Nicole;
Morales, Ana;
Ramesan, Prameela;
Sarafrazi, Soodabeh;
Truty, Rebecca;
Dahir, Kathryn

Publication type:

Article

Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 7, p. 1787, doi. 10.1210/clinem/dgad035

By:

Liu, Winnie;
Lee, Brendan;
Nagamani, Sandesh C. S.;
Nicol, Lindsey;
Rauch, Frank;
Rush, Eric T.;
Sutton, V. Reid;
Orwoll, Eric

Publication type:

Article

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.

Published in:

Cytogenetic & Genome Research, 2016, v. 147, n. 1, p. 31, doi. 10.1159/000441585

By:

Rush, Eric T.;
Schaefer, G. Bradley;
Sanger, Warren G.;
Coccia, Peter F.

Publication type:

Article

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.

Published in:

EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.201911739

By:

Bosakova, Michaela;
Abraham, Sara P;
Nita, Alexandru;
Hruba, Eva;
Buchtova, Marcela;
Taylor, S Paige;
Duran, Ivan;
Martin, Jorge;
Svozilova, Katerina;
Barta, Tomas;
Varecha, Miroslav;
Balek, Lukas;
Kohoutek, Jiri;
Radaszkiewicz, Tomasz;
Pusapati, Ganesh V;
Bryja, Vitezslav;
Rush, Eric T;
Thiffault, Isabelle;
Nickerson, Deborah A;
Bamshad, Michael J

Publication type:

Article

A retrospective review of initial bisphosphonate infusion in an inpatient vs. outpatient setting for bisphosphonate naïve patients.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1105, doi. 10.1515/jpem-2016-0318

By:

Kreikemeier, Rose M.;
Gosnell, Heather;
Halbur, Lisa M.;
Rush, Eric T.

Publication type:

Article

Evaluation and comparison of safety, convenience and cost of administering intravenous pamidronate infusions to children in the home and ambulatory care settings.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 5/6, p. 493, doi. 10.1515/jpem-2011-0498

By:

Rush, Eric T.;
DeHaai, Kristi;
Kreikemeier, Rose M.;
Lutz, Richard E.

Publication type:

Article

Zellweger Syndrome and Associated Brain Malformations: Report of a Novel Peroxin1 (PEX1) Mutation in a Native American Infant.

Published in:

2012

By:

Mohebbi, Mohammad R.;
Rush, Eric T.;
Rizzo, William B.;
Banagale, Raul C.

Publication type:

Case Study

Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.

Published in:

2017

By:

Wu, Calvin C;
Econs, Michael J;
DiMeglio, Linda A;
Insogna, Karl L;
Levine, Michael A;
Orchard, Paul J;
Miller, Weston P;
Petryk, Anna;
Rush, Eric T;
Shoback, Dolores M;
Ward, Leanne M;
Polgreen, Lynda E

Publication type:

journal article

Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.

Published in:

2016

By:

Nampoothiri, Sheela;
Fernández-Rebollo, Eduardo;
Yesodharan, Dhanya;
Gardella, Thomas J.;
Rush, Eric T.;
Langman, Craig B.;
Jüppner, Harald

Publication type:

journal article

Development of a Multidisciplinary Clinic for Patients with Ehlers Danlos Syndromes: Considerations and Strategies.

Published in:

Journal of Multidisciplinary Healthcare, 2023, v. 16, p. 191, doi. 10.2147/JMDH.S396221

By:

Black, William R;
Jones, Jordan T;
Rush, Eric T;
Walton, Lindsey Malloy;
Harding, Ashley

Publication type:

Article

A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 5, p. 1, doi. 10.1101/mcs.a006110

By:

Lansdon, Lisa A.;
Dong Chen;
Rush, Eric T.;
Engleman, Kendra;
Lei Zhang;
Saunders, Carol J.;
Oroszi, Gabor

Publication type:

Article