Overview: referrals for genetic evaluation from child psychiatrists

por Press, Katharine R., Wieczorek, Laura, Hoover-Fong, Julie, Bodurtha, Joann, Taylor, Lynn
Publicado 2016

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

por Sheridan, Molly B., Wohler, Elizabeth, Batista, Denise A. S., Applegate, Carolyn, Hoover-Fong, Julie
Publicado 2015

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

por Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V Reid, Boehm, Corinne, Schiettecatte, François, Valle, David
Publicado 2013

Skeletal Dysplasias: Growing Therapy for Growing Bones

por Jelin, Angie C., O'Hare, Elizabeth, Blakemore, Karin, Jelin, Eric B., Valle, David, Hoover-Fong, Julie
Publicado 2017

New Candidate Biomarkers in the Female Genital Tract to Evaluate Microbicide Toxicity

por Fields, Scott, Song, Benben, Rasoul, Bareza, Fong, Julie, Works, Melissa G., Shew, Kenneth, Yiu, Ying, Mirsalis, Jon, D'Andrea, Annalisa
Publicado 2014

Experiences of children and adolescents living with achondroplasia and their caregivers

por Shediac, Renée, Moshkovich, Olga, Gerould, Heather, Ballinger, Rachel, Williams, Agnes, Bellenger, M. Alex, Quinn, Jennifer, Hoover‐Fong, Julie, Mohnike, Klaus, Savarirayan, Ravi, Kelly, Dominique
Publicado 2022

PSAT103 Qualitative Research in Children with Achondroplasia and Parents of Children with Achondroplasia: Medical Challenges and Impacts

por Muslimova, Elena, Hoover-Fong, Julie, Mathias, Susan D, Savarirayan, Ravi, Crews, Chandler, Alves, Inês, Noval Iruretagoyena, Susana, Haider, Amer, Cho, Terry, Lee, Anne, Colwell, Hilary H
Publicado 2022

Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier scre...

por Beck, Natalie M., Sagaser, Katelynn G., Lawson, Cathleen S., Hertenstein, Christine, Jachens, Ashley, Forster, Katherine R., Miller, Kristen A., Jelin, Angie C., Blakemore, Karin J., Hoover‐Fong, Julie
Publicado 2022

PSAT102 Qualitative Research in Children and Parents of Children with Achondroplasia to Cognitively Debrief Three Patient-Reported Outcome Measures and Confirm the Content Validity...

por Muslimova, Elena, Hoover-Fong, Julie, Mathias, Susan D, Savarirayan, Ravi, Crews, Chandler, Alves, Inês, Medicine, Veterinary, Iruretagoyena, Susana Noval, Haider, Amer, Cho, Terry, Lee, Anne, Colwell, Hilary H
Publicado 2022

Best practice guidelines for management of spinal disorders in skeletal dysplasia

por White, Klane K., Bober, Michael B., Cho, Tae-Joon, Goldberg, Michael J., Hoover-Fong, Julie, Irving, Melita, Kamps, Shawn E., Mackenzie, William G., Raggio, Cathleen, Spencer, Samantha A., Bompadre, Viviana, Savarirayan, Ravi
Publicado 2020

Prevalence of Hearing Loss and Hearing Aid Use Among US Medicare Beneficiaries Aged 71 Years and Older

por Reed, Nicholas S., Garcia-Morales, Emmanuel E., Myers, Clarice, Huang, Alison R., Ehrlich, Joshua R., Killeen, Olivia J., Hoover-Fong, Julie E., Lin, Frank R., Arnold, Michelle L., Oh, Esther S., Schrack, Jennifer A., Deal, Jennifer A.
Publicado 2023

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

por Savarirayan, Ravi, Tunkel, David E., Sterni, Laura M., Bober, Michael B., Cho, Tae-Joon, Goldberg, Michael J., Hoover-Fong, Julie, Irving, Melita, Kamps, Shawn E., Mackenzie, William G., Raggio, Cathleen, Spencer, Samantha A., Bompadre, Viviana, White, Klane K.
Publicado 2021

Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers

por Nahm, Nickolas J., Mackenzie, W. G. Stuart, Mackenzie, William G., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria Elena, Smid, Cory J., Hoover-Fong, Julie, Bober, Michael B.
Publicado 2023

Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

por Sobreira, Nara L. M., Cirulli, Elizabeth T., Avramopoulos, Dimitrios, Wohler, Elizabeth, Oswald, Gretchen L., Stevens, Eric L., Ge, Dongliang, Shianna, Kevin V., Smith, Jason P., Maia, Jessica M., Gumbs, Curtis E., Pevsner, Jonathan, Thomas, George, Valle, David, Hoover-Fong, Julie E., Goldstein, David B.
Publicado 2010

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

por Hoover-Fong, Julie E., Alade, Adekemi Y., Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Liu, Chengxin, McGready, John, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Schulze, Kerry J., Serna, Maria Elena, Smid, Cory J., Bober, Michael B.
Publicado 2021

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort...

por Hoover-Fong, Julie E., Schulze, Kerry J., Alade, Adekemi Y., Bober, Michael B., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria E., Smid, Cory, Liu, Chengxin, McGready, John
Publicado 2021

Pharmacokinetics and Exposure–Response of Vosoritide in Children with Achondroplasia

por Chan, Ming Liang, Qi, Yulan, Larimore, Kevin, Cherukuri, Anu, Seid, Lori, Jayaram, Kala, Jeha, George, Fisheleva, Elena, Day, Jonathan, Huntsman-Labed, Alice, Savarirayan, Ravi, Irving, Melita, Bacino, Carlos A., Hoover-Fong, Julie, Ozono, Keiichi, Mohnike, Klaus, Wilcox, William R., Horton, William A., Henshaw, Joshua
Publicado 2021

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

por Poll, Sarah R., Martin, Renan, Wohler, Elizabeth, Partan, Elizabeth S., Walek, Elizabeth, Salman, Shaima, Groepper, Daniel, Kratz, Lisa, Cernach, Mirlene, Jesus-Garcia, Reynaldo, Haldeman-Englert, Chad, Choi, Yoon Jae, Morris, Carol D., Cohen, Bernard, Hoover-Fong, Julie, Valle, David, Semenza, Gregg L., Sobreira, Nara L. M.
Publicado 2022

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

por Lynch, Danielle C., Revil, Timothée, Schwartzentruber, Jeremy, Bhoj, Elizabeth J., Innes, A. Micheil, Lamont, Ryan E., Lemire, Edmond G., Chodirker, Bernard N., Taylor, Juliet P., Zackai, Elaine H., McLeod, D. Ross, Kirk, Edwin P., Hoover-Fong, Julie, Fleming, Leah, Savarirayan, Ravi, Majewski, Jacek, Jerome-Majewska, Loydie A., Parboosingh, Jillian S., Bernier, Francois P.
Publicado 2014

THU181 Evaluation Of Bone Mineral Density In A Cohort Of Children With ACH Participating In The PROPEL 2 Study Of Infigratinib

por Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, Salles, Jean Pierre, Leiva-Gea, Antonio, Irving, Melita, Saraff, Vrinda, McDevitt, Helen, Salcedo, Maria, Nicolino, Marc P, Cormier-Daire, Valerie, Kannu, Peter, Skae, Mars, Bober, Michael B, Phillips III, John, Candler, Toby, Harmatz, Paul, Saal, Howard, Hoover-Fong, Julie, Muslimova, Elena, Cho, Terry, Weng, Richard, Rogoff, Daniela
Publicado 2023