Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate

por Sözen, Mehmet A., Hecht, Jacqueline T., Spritz, Richard A.
Publicado 2009

Pseudoachondroplasia/COMP — translating from the bench to the bedside

por Posey, Karen LaShea, Alcorn, Joseph L., Hecht, Jacqueline T.
Publicado 2014

DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate

por Young, Juan I., Slifer, Susan, Hecht, Jacqueline T., Blanton, Susan H.
Publicado 2021

Adams-Oliver Syndrome: Vestigial Tail and Genetics Update

por Zhu, Victor Z., Hansen-Kiss, Emily, Hecht, Jacqueline T., Payne, Phileemon E.
Publicado 2022

Resveratrol Reduces COMPopathy in Mice Through Activation of Autophagy

por Hecht, Jacqueline T, Coustry, Francoise, Veerisetty, Alka C, Hossain, Mohammad G, Posey, Karen L
Publicado 2021

CurQ+, a Next-Generation Formulation of Curcumin, Ameliorates Growth Plate Chondrocyte Stress and Increases Limb Growth in a Mouse Model of Pseudoachondroplasia

por Hecht, Jacqueline T., Veerisetty, Alka C., Hossain, Mohammad G., Chiu, Frankie, Posey, Karen L.
Publicado 2023

Mutant COMP shapes growth and development of skull and facial structures in mice and humans

por Burger, Alexander, Roosenboom, Jasmien, Hossain, Mohammad, Weinberg, Seth M., Hecht, Jacqueline T., Posey, Karen L.
Publicado 2020

RNAi Reduces Expression and Intracellular Retention of Mutant Cartilage Oligomeric Matrix Protein

por Posey, Karen L., Liu, Peiman, Wang, Huiqiu R., Veerisetty, Alka C., Alcorn, Joseph L., Hecht, Jacqueline T.
Publicado 2010

Joint Degeneration in a Mouse Model of Pseudoachondroplasia: ER Stress, Inflammation, and Block of Autophagy

por Hecht, Jacqueline T., Veerisetty, Alka C., Hossain, Mohammad G., Patra, Debabrata, Chiu, Frankie, Coustry, Francoise, Posey, Karen L.
Publicado 2021

Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish

por Maili, Lorena, Ruiz, Oscar E., Kahan, Philip H., Chiu, Frankie, Larson, Stephen T., Hashmi, S. Shahrukh, Hecht, Jacqueline T., Eisenhoffer, George T.
Publicado 2023

Disruption of fos causes craniofacial anomalies in developing zebrafish

por Maili, Lorena, Tandon, Bhavna, Yuan, Qiuping, Menezes, Simone, Chiu, Frankie, Hashmi, S. Shahrukh, Letra, Ariadne, Eisenhoffer, George T., Hecht, Jacqueline T.
Publicado 2023

Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion

por Quiggle, Ashley, Charng, Wu-Lin, Antunes, Lilian, Nikolov, Momchil, Bledsoe, Xavier, Hecht, Jacqueline T., Dobbs, Matthew B., Gurnett, Christina A.
Publicado 2022

Early Resveratrol Treatment Mitigates Joint Degeneration and Dampens Pain in a Mouse Model of Pseudoachondroplasia (PSACH)

por Hecht, Jacqueline T., Veerisetty, Alka C., Patra, Debabrata, Hossain, Mohammad G., Chiu, Frankie, Mobed, Claire, Gannon, Francis H., Posey, Karen L.
Publicado 2023

Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family

por Cvjetkovic, Nevena, Maili, Lorena, Weymouth, Katelyn S, Hashmi, S Shahrukh, Mulliken, John B, Topczewski, Jacek, Letra, Ariadne, Yuan, Qiuping, Blanton, Susan H, Swindell, Eric C, Hecht, Jacqueline T
Publicado 2015

Genome-wide Interaction Study Implicates VGLL2 and Alcohol Exposure and PRL and Smoking in Orofacial Cleft Risk

por Carlson, Jenna C., Shaffer, John R., Deleyiannis, Fred, Hecht, Jacqueline T., Wehby, George L., Christensen, Kaare, Feingold, Eleanor, Weinberg, Seth M., Marazita, Mary L., Leslie, Elizabeth J.
Publicado 2022

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

por Perez, Kimberly K. Diaz, Chung, Sydney, Head, S. Taylor, Epstein, Michael P., Hecht, Jacqueline T., Wehby, George L., Weinberg, Seth M., Murray, Jeffrey C., Marazita, Mary L., Leslie, Elizabeth J.
Publicado 2023

A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2

por Degenkolbe, Elisa, König, Jana, Zimmer, Julia, Walther, Maria, Reißner, Carsten, Nickel, Joachim, Plöger, Frank, Raspopovic, Jelena, Sharpe, James, Dathe, Katarina, Hecht, Jacqueline T., Mundlos, Stefan, Doelken, Sandra C., Seemann, Petra
Publicado 2013

Role of WNT10A in failure of tooth development in humans and zebrafish

por Yuan, Qiuping, Zhao, Min, Tandon, Bhavna, Maili, Lorena, Liu, Xiaoming, Zhang, Anqi, Baugh, Evan H., Tran, Tam, Silva, Renato M., Hecht, Jacqueline T., Swindell, Eric C., Wagner, Daniel S., Letra, Ariadne
Publicado 2017

Mapping genetic variants for cranial vault shape in humans

por Roosenboom, Jasmien, Lee, Myoung Keun, Hecht, Jacqueline T., Heike, Carrie L., Wehby, George L., Christensen, Kaare, Feingold, Eleanor, Marazita, Mary L., Maga, A. Murat, Shaffer, John R., Weinberg, Seth M.
Publicado 2018

Individuals with nonsyndromic orofacial clefts have increased asymmetry of fingerprint patterns

por Neiswanger, Katherine, Mukhopadhyay, Nandita, Rajagopalan, Shwetha, Leslie, Elizabeth J., Sanchez, Carla A., Hecht, Jacqueline T., Orioli, Iêda M., Poletta, Fernando A., de Salamanca, Javier Enríquez, Weinberg, Seth M., Marazita, Mary L.
Publicado 2020