المؤلفون: Sözen, Mehmet A., Hecht, Jacqueline T., Spritz, Richard A.

المصدر: Genetics and Molecular Biology. January 2008 31(3)

مصطلحات موضوعية: orofacial clefts, nectins, PVRL3, mutation analysis

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400008

المؤلفون: Sözen, Mehmet A., Hecht, Jacqueline T., Spritz, Richard A.

المصدر: Genetics and Molecular Biology. January 2009 32(3)

مصطلحات موضوعية: PVR, PVRL2, cleft lip and palate, mutation, SSCP

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300007

المؤلفون: Hecht, Jacqueline T.^1,2 (AUTHOR) jacqueline.t.hecht@uth.tmc.edu, Veerisetty, Alka C.¹ (AUTHOR) alka.veerisetty@uth.tmc.edu, Hossain, Mohammad G.¹ (AUTHOR) mohammad.g.hossain@uth.tmc.edu, Patra, Debabrata³ (AUTHOR) debabratapatra@wustl.edu, Carrer, Michele⁴ (AUTHOR) mcarrer@ionis.com, Chiu, Frankie¹ (AUTHOR) frankie.chiu@uth.tmc.edu, Relic, Dorde⁴ (AUTHOR) drelic@ionis.com, Jafar-nejad, Paymaan⁴ (AUTHOR) pjafar-nejad@ionis.com, Posey, Karen L.¹ (AUTHOR) karen.posey@uth.tmc.edu

المصدر: International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 1, p16. 17p.

مصطلحات موضوعية: *JOINT pain, *EXTRACELLULAR matrix proteins, *ARTHROPLASTY, *CLINICAL pathology, *PROTEIN folding

المؤلفون: 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.

المساهمون: BioMarin Pharmaceutical, Alan and Kathryn Greenberg Center for Skeletal Dysplasia at Johns Hopkins University

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02738-x
https://link.springer.com/content/pdf/10.1186/s13023-023-02738-x.pdf
https://link.springer.com/article/10.1186/s13023-023-02738-x/fulltext.html

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

المساهمون: National Institutes of Health, Cancer Prevention and Research Institute of Texas, National Institute of General Medical Sciences, National Institute of Dental and Craniofacial Research, John S. Dunn Gulf Coast Consortium for Chemical Genomics

المصدر: Frontiers in Cell and Developmental Biology ; volume 11 ; ISSN 2296-634X

الاتاحة: http://dx.doi.org/10.3389/fcell.2023.1141893
https://www.frontiersin.org/articles/10.3389/fcell.2023.1141893/full

المؤلفون: Robinson, Kelsey, Mosley, Trenell J., Rivera-González, Kenneth S., Jabbarpour, Christopher R., Curtis, Sarah W., Adeyemo, Wasiu Lanre, Beaty, Terri H., Butali, Azeez, Buxó, Carmen J., Cutler, David J., Epstein, Michael P., Gowans, Lord J.J., Hecht, Jacqueline T., Murray, Jeffrey C., Shaw, Gary M., Uribe, Lina Moreno, Weinberg, Seth M., Brand, Harrison, Marazita, Mary L., Lipinski, Robert J., Leslie, Elizabeth J.

المساهمون: NIH

المصدر: Human Genetics and Genomics Advances ; volume 4, issue 4, page 100234 ; ISSN 2666-2477

الاتاحة: http://dx.doi.org/10.1016/j.xhgg.2023.100234
https://api.elsevier.com/content/article/PII:S2666247723000660?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666247723000660?httpAccept=text/plain

المؤلفون: Diaz Perez, Kimberly K., Curtis, Sarah W., Sanchis-Juan, Alba, Zhao, Xuefang, Head, Taylor, Ho, Samantha, Carter, Bridget, McHenry, Toby, Bishop, Madison R., Valencia-Ramirez, Luz C., Restrepo, Claudia, Hecht, Jacqueline T., Uribe, Lina M., Wehby, George, Weinberg, Seth M., Beaty, Terri H., Murray, Jeffrey C., Feingold, Eleanor, Marazita, Mary L., Cutler, David J., Epstein, Michael P., Brand, Harrison, Leslie, Elizabeth J.

المساهمون: National Institutes of Health, Howard Hughes Medical Institute, Common Fund

المصدر: Genetics in Medicine ; volume 25, issue 10, page 100918 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2023.100918
https://api.elsevier.com/content/article/PII:S1098360023009310?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023009310?httpAccept=text/plain

المؤلفون: Hecht, Jacqueline T., Chiu, Frankie, Veerisetty, Alka, Hossain, Mohammad, Posey, Karen L.

المصدر: Matrix Biology ; volume 119, page 101-111 ; ISSN 0945-053X

الاتاحة: http://dx.doi.org/10.1016/j.matbio.2023.03.008
https://api.elsevier.com/content/article/PII:S0945053X23000446?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0945053X23000446?httpAccept=text/plain

المؤلفون: Legare, Janet M., Ingram, David G., Pauli, Richard M., Hecht, Jacqueline T., Dujmusic, Lorena, Rodriguez-Buritica, David F., Campbell, Jeffrey W., Modaff, Peggy, Little, Mary E., Smid, Cory J., Serna, Maria E., Bober, Michael B., Hoover-Fong, Julie E., Hashmi, S. Shahrukh

المصدر: Sleep & Breathing; Mar2025, Vol. 29 Issue 1, p1-10, 10p

المؤلفون: Robinson, Kelsey, Parrish, Randy, Adeyemo, Wasiu Lanre, Beaty, Terri H., Butali, Azeez, Buxó, Carmen J., Gowans, Lord J. J., Hecht, Jacqueline T., Moreno Uribe, Lina, Murray, Jeffrey C., Shaw, Gary M., Weinberg, Seth M., Brand, Harrison, Marazita, Mary L., Cutler, David J., Epstein, Michael P., Yang, Jingjing, Leslie, Elizabeth J.

المصدر: Human Genetics; Nov2024, Vol. 143 Issue 11, p1341-1352, 12p

مصطلحات موضوعية: CLEFT palate, CLEFT lip, GENOME-wide association studies, GENE expression, HUMAN abnormalities

المؤلفون: Howe, Brian J., Pendleton, Chandler, Withanage, Miyuraj Harishchandra Hikkaduwa, Childs, Christopher A., Zeng, Erliang, van Wijk, Arjen, Hermus, Ruurd, Padilla, Carmencita, Hecht, Jacqueline T., Poletta, Fernando A., Orioli, Iêda M., Buxó-Martínez, Carmen J., Deleyiannis, Frederic, Vieira, Alexandre R., Butali, Azeez, Valencia-Ramirez, Consuelo, Muñeton, Claudia Restrepo, Wehby, George L., Weinberg, Seth M., Marazita, Mary L., Uribe, Lina M.Moreno, Xie, Xian Jin

المصدر: Howe , B J , Pendleton , C , Withanage , M H H , Childs , C A , Zeng , E , van Wijk , A , Hermus , R , Padilla , C , Hecht , J T , Poletta , F A , Orioli , I M , Buxó-Martínez , C J , Deleyiannis , F , Vieira , A R , Butali , A , Valencia-Ramirez , C , Muñeton , C R , Wehby , G L , Weinberg , S M , Marazita , M L , Uribe , L M M ....

مصطلحات موضوعية: cleft lip and palate, hypodontia, machine learning, phenotype

الاتاحة: https://research.vu.nl/en/publications/9e97e774-07e2-4513-a45c-c52f31791131
https://doi.org/10.3390/dj10070128
https://hdl.handle.net/1871.1/9e97e774-07e2-4513-a45c-c52f31791131
http://www.scopus.com/inward/record.url?scp=85133844939&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85133844939&partnerID=8YFLogxK

المؤلفون: Mukhopadhyay, Nandita, Feingold, Eleanor, Moreno-Uribe, Lina, Wehby, George, Valencia-Ramirez, Luz Consuelo, Restrepo Muñeton, Claudia P., Padilla, Carmencita, Deleyiannis, Frederic, Christensen, Kaare, Poletta, Fernando A., Orioli, Ieda M., Hecht, Jacqueline T., Buxó, Carmen J., Butali, Azeez, Adeyemo, Wasiu L., Vieira, Alexandre R., Shaffer, John R., Murray, Jeffrey C., Weinberg, Seth M., Leslie, Elizabeth J., Marazita, Mary L.

المصدر: Mukhopadhyay , N , Feingold , E , Moreno-Uribe , L , Wehby , G , Valencia-Ramirez , L C , Restrepo Muñeton , C P , Padilla , C , Deleyiannis , F , Christensen , K , Poletta , F A , Orioli , I M , Hecht , J T , Buxó , C J , Butali , A , Adeyemo , W L , Vieira , A R , Shaffer , J R , Murray , J C , Weinberg , S M , Leslie , E J & Marazita , M L 2022 , ....

مصطلحات موضوعية: comparison of genetic etiology, genome-wide association, multiethnic study, subtypes of orofacial clefts, Genome-Wide Association Study, Humans, Interferon Regulatory Factors/genetics, Phenotype, DNA-Binding Proteins/genetics, Cleft Lip/genetics, Polymorphism, Single Nucleotide, Brain/abnormalities, Cleft Palate/genetics

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/c7612e3a-7802-4965-b750-26a9465baf46

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/c7612e3a-7802-4965-b750-26a9465baf46
https://doi.org/10.1002/gepi.22447
https://findresearcher.sdu.dk/ws/files/200073236/gepi.22447.pdf

المؤلفون: 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.

المصدر: Carlson , J C , Shaffer , J R , Deleyiannis , F , Hecht , J T , Wehby , G L , Christensen , K , Feingold , E , Weinberg , S M , Marazita , M L & Leslie , E J 2022 , ' Genome-wide Interaction Study Implicates VGLL2 and Alcohol Exposure and PRL and Smoking in Orofacial Cleft Risk ' , Frontiers in Cell and Developmental Biology , vol. 10 , 621261 . https://doi.org/10.3389/fcell.2022.621261

مصطلحات موضوعية: case- control, gene-environement interactions, GWAS, maternal exposures, orofacial cleft

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/b948e51a-ed6f-4d00-a72a-d56d846ec7a9

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/b948e51a-ed6f-4d00-a72a-d56d846ec7a9
https://doi.org/10.3389/fcell.2022.621261
https://findresearcher.sdu.dk/ws/files/199736656/Open_Access_Version.pdf

المؤلفون: Zhu, Victor Z., Hansen-Kiss, Emily, Hecht, Jacqueline T., Payne, Phileemon E.

المصدر: Archives of Plastic Surgery ; volume 49, issue 04, page 517-522 ; ISSN 2234-6163 2234-6171

الاتاحة: http://dx.doi.org/10.1055/s-0042-1751107
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0042-1751107.pdf

المؤلفون: Ragodos, Ronilo, Wang, Tong, Padilla, Carmencita, Hecht, Jacqueline T., Poletta, Fernando A., Orioli, Iêda M., Buxó, Carmen J., Butali, Azeez, Valencia-Ramirez, Consuelo, Restrepo Muñeton, Claudia, Wehby, George L., Weinberg, Seth M., Marazita, Mary L., Moreno Uribe, Lina M., Howe, Brian J.

المساهمون: National Institutes of Health, Robert Wood Johnson Foundation

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-022-15788-1
https://www.nature.com/articles/s41598-022-15788-1.pdf
https://www.nature.com/articles/s41598-022-15788-1

المؤلفون: Ragodos, Ronilo, Wang, Tong, Padilla, Carmencita, Hecht, Jacqueline T., Poletta, Fernando A., Orioli, Iêda M., Buxó, Carmen J., Butali, Azeez, Valencia-Ramirez, Consuelo, Muñeton, Claudia Restrepo, Wehby, George L., Weinberg, Seth M., Marazita, Mary L., Moreno Uribe, Lina M., Howe, Brian J.

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

الاتاحة: https://doi.org/10.1038/s41598-022-17668-0
https://www.nature.com/articles/s41598-022-17668-0.pdf
https://www.nature.com/articles/s41598-022-17668-0

المؤلفون: Alotaibi, Rasha N., Howe, Brian J., Moreno Uribe, Lina M., Valencia Ramirez, Consuelo, Restrepo, Claudia, Deleyiannis, Frederic W. B., Padilla, Carmencita, Orioli, Ieda M., Buxó, Carmen J., Hecht, Jacqueline T., Wehby, George L., Neiswanger, Katherine, Murray, Jeffrey C., Shaffer, John R., Weinberg, Seth M., Marazita, Mary L.

المساهمون: National Institutes of Health

المصدر: Frontiers in Dental Medicine ; volume 2 ; ISSN 2673-4915

الاتاحة: http://dx.doi.org/10.3389/fdmed.2021.771116
https://www.frontiersin.org/articles/10.3389/fdmed.2021.771116/full

المؤلفون: McMillin, Margaret J, Beck, Anita E, Chong, Jessica X, Shively, Kathryn M, Buckingham, Kati J, Gildersleeve, Heidi IS, Aracena, Mariana I, Aylsworth, Arthur S, Bitoun, Pierre, Carey, John C, Clericuzio, Carol L, Crow, Yanick J, Curry, Cynthia J, Devriendt, Koenraad, Everman, David B, Fryer, Alan, Gibson, Kate, Uzielli, Maria Luisa Giovannucci, Graham, John M, Hall, Judith G, Hecht, Jacqueline T, Heidenreich, Randall A, Hurst, Jane A, Irani, Sarosh, Krapels, Ingrid PC, Leroy, Jules G, Mowat, David, Plant, Gordon T, Robertson, Stephen P, Schorry, Elizabeth K, Scott, Richard H, Seaver, Laurie H, Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G, Weaver, David D, Whiteford, Margo, Williams, Marc S, Tabor, Holly K, Smith, Joshua D, Shendure, Jay, Nickerson, Deborah A, Genomics, University of Washington Center for Mendelian, Bamshad, Michael J

المصدر: American Journal of Human Genetics. 94(5)

مصطلحات موضوعية: Rare Diseases, Human Genome, Genetics, Congenital Structural Anomalies, Pediatric, Dental/Oral and Craniofacial Disease, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Arachnodactyly, Arthrogryposis, Blepharophimosis, Child, Child, Preschool, Cleft Palate, Clubfoot, Connective Tissue Diseases, Contracture, Exome, Female, Hand Deformities, Congenital, Humans, Ion Channels, Male, Mutation, Ophthalmoplegia, Pedigree, Retinal Diseases, University of Washington Center for Mendelian Genomics, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2mm0j4f2

المؤلفون: Patel, Omkar, Hashmi, S. Shahrukh, Chiquet, Brett, Hecht, Jacqueline T.

المصدر: Birth Defects Research; Jul2024, Vol. 116 Issue 7, p1-11, 11p

المؤلفون: Savarirayan, Ravi, Irving, Melita, Wilcox, William R, Bacino, Carlos A, Hoover-Fong, Julie E, Harmatz, Paul, Polgreen, Lynda E, Palm, Katja, Prada, Carlos E, Kubota, Takuo, Arundel, Paul, Kotani, Yumiko, Leiva-Gea, Antonio, Bober, Michael B, Hecht, Jacqueline T, Legare, Janet M, Lawrinson, Sue, Low, Andrea, Sabir, Ian, Huntsman-Labed, Alice, Day, Jonathan R S

المصدر: Med ; ISSN:2666-6340

مصطلحات موضوعية: Translation to patients, achondroplasia, growth, proportionality, safety, vosoritide

Relation: https://doi.org/10.1016/j.medj.2024.11.019; https://pubmed.ncbi.nlm.nih.gov/39740666

الاتاحة: https://doi.org/10.1016/j.medj.2024.11.019
https://pubmed.ncbi.nlm.nih.gov/39740666