Antonie Debra Kline

Instructor

1992 …2019
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Fingerprint Dive into the research topics where Antonie Debra Kline is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
De Lange Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Chromosomes, Human, Pair 18 Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Genes Medicine & Life Sciences
Missense Mutation Medicine & Life Sciences

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Research Output 1992 2019

Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018

Kline, A. D., Krantz, I. D., Bando, M., Shirahige, K., Chea, S., Sakata, T., Rao, S., Dorsett, D., Singh, V. P., Gerton, J. L., Horsfield, J. A., Calof, A. L., Katz, O., Grados, M., Raible, S., Baranano, K., Lyon, G., Musio, A., Carrico, C. S., Clemens, D. K. & 6 others, Caudill, P., Massa, V., McGill, B. E., Dommestrup, A., O'Connor, J. T. & Haaland, R. E., Jun 1 2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 1080-1090 11 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Mutation
Microcephaly
Ethics Committees
Baltimore

Cornelia de Lange syndrome in diverse populations

Dowsett, L., Porras, A. R., Kruszka, P., Davis, B., Hu, T., Honey, E., Badoe, E., Thong, M. K., Leon, E., Girisha, K. M., Shukla, A., Nayak, S. S., Shotelersuk, V., Megarbane, A., Phadke, S., Sirisena, N. D., Dissanayake, V. H. W., Ferreira, C. R., Kisling, M. S., Tanpaiboon, P. & 45 others, Uwineza, A., Mutesa, L., Tekendo-Ngongang, C., Wonkam, A., Fieggen, K., Batista, L. C., Moretti-Ferreira, D., Stevenson, R. E., Prijoles, E. J., Everman, D., Clarkson, K., Worthington, J., Kimonis, V., Hisama, F., Crowe, C., Wong, P., Johnson, K., Clark, R. D., Bird, L., Masser-Frye, D., McDonald, M., Willems, P., Roeder, E., Saitta, S., Anyane-Yeoba, K., Demmer, L., Hamajima, N., Stark, Z., Gillies, G., Hudgins, L., Dave, U., Shalev, S., Siu, V., Ades, A., Dubbs, H., Raible, S., Kaur, M., Salzano, E., Jackson, L., Deardorff, M., Kline, A. D., Summar, M., Muenke, M., Linguraru, M. G. & Krantz, I. D., Feb 1 2019, In : American Journal of Medical Genetics, Part A. 179, 2, p. 150-158 9 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Lip
Population
Technology
Nose
Ehlers-Danlos Syndrome
Quality of Life
Fatigue
Primary Dysautonomias
Pediatrics

Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo

Cukrov, D., Newman, T. A. C., Leask, M., Leeke, B., Sarogni, P., Patimo, A., Kline, A. D., Krantz, I. D., Horsfield, J. A. & Musio, A., Jan 1 2018, In : Human Molecular Genetics. 27, 17, p. 3002-3011 10 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Antioxidants
Genomic Instability
Zinc Fingers
Pharmaceutical Preparations

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism

Fan, Y., Yin, W., Hu, B., Kline, A. D., Zhang, V. W., Liang, D., Sun, Y., Wang, L., Tang, S., Powis, Z., Li, L., Yan, H., Shi, Z., Yang, X., Chen, Y., Wang, J., Jiang, Y., Tan, H., Gu, X., Wu, L. & 1 others, Yu, Y., Sep 6 2018, In : American Journal of Human Genetics. 103, 3, p. 448-455 8 p.

Research output: Contribution to journalArticle

Developmental Disabilities
Intellectual Disability
Hypertelorism
Eyebrows
Haploinsufficiency