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Results: 31

Buggies, villi, cornelia, and genes: My extended mentorship with LG Jackson.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 83, doi. 10.1002/ajmg.c.31482
By:
- Kline, Antonie D.
Publication type:
Article
Laird Jackson: Role model, mentor and friend.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 80, doi. 10.1002/ajmg.c.31483
By:
- Valverde, Kathleen D.;
- Eunpu, Deborah;
- Harasink, Susan Moyer;
- Koch, Susan;
- Weinblatt, Vivian J.
Publication type:
Article
Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 138, doi. 10.1002/ajmg.c.31484
By:
- Kawauchi, Shimako;
- Santos, Rosaysela;
- Muto, Akihiko;
- Lopez‐Burks, Martha E.;
- Schilling, Thomas F.;
- Lander, Arthur D.;
- Calof, Anne L.
Publication type:
Article
Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 92, doi. 10.1002/ajmg.c.31485
By:
- Katz, Olivia L.;
- Krantz, Ian D.;
- Noon, Sarah E.
Publication type:
Article
From picnics in the park to board rooms in the United States and the world: Our journey with Dr. Jackson.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 76, doi. 10.1002/ajmg.c.31486
By:
- Mairano, Julie A.;
- Audette, Lynn P.
Publication type:
Article
Using fetal cells for prenatal diagnosis: History and recent progress.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 123, doi. 10.1002/ajmg.c.31487
By:
- Beaudet, Arthur L.
Publication type:
Article
A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 102, doi. 10.1002/ajmg.c.31488
By:
- Zhao, Jianhua;
- Noon, Sarah E.;
- Krantz, Ian D.;
- Wu, Yaning
Publication type:
Article
Cytogenetic highlights and transitions.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 87, doi. 10.1002/ajmg.c.31489
By:
- Spinner, Nancy B.
Publication type:
Article
Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 237, doi. 10.1002/ajmg.c.31500
By:
- January, Kathleen;
- Conway, Laura J.;
- Deardorff, Matthew;
- Harrington, Ann;
- Krantz, Ian D.;
- Loomes, Kathleen;
- Pipan, Mary;
- Noon, Sarah E.
Publication type:
Article
Special cases in Cornelia de Lange syndrome: The Spanish experience.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 198, doi. 10.1002/ajmg.c.31501
By:
- Pié, Juan;
- Puisac, Beatriz;
- Hernández‐Marcos, Maria;
- Teresa‐Rodrigo, Maria Esperanza;
- Gil‐Rodríguez, Maria;
- Baquero‐Montoya, Carolina;
- Ramos‐Cáceres, Maria;
- Bernal, Maria;
- Ayerza‐Casas, Ariadna;
- Bueno, Inés;
- Gómez‐Puertas, Paulino;
- Ramos, Feliciano J.
Publication type:
Article
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 206, doi. 10.1002/ajmg.c.31502
By:
- Mariani, Milena;
- Decimi, Valentina;
- Bettini, Laura Rachele;
- Maitz, Silvia;
- Gervasini, Cristina;
- Masciadri, Maura;
- Ajmone, Paola;
- Kullman, Gaia;
- Dinelli, Marco;
- Panceri, Roberto;
- Cereda, Anna;
- Selicorni, Angelo
Publication type:
Article
Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 190, doi. 10.1002/ajmg.c.31503
By:
- Roshan Lal, Tamanna R.;
- Kliewer, Mark A.;
- Lopes, Thelma;
- Rebsamen, Susan L.;
- O'Connor, Julia;
- Grados, Marco A.;
- Kimball, Amy;
- Clemens, Julia;
- Kline, Antonie D.
Publication type:
Article
Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 229, doi. 10.1002/ajmg.c.31504
By:
- Cacioppo, Cara N.;
- Conway, Laura J.;
- Mehta, Devanshi;
- Krantz, Ian D.;
- Noon, Sarah E.
Publication type:
Article
Confined placental mosaicism and its impact on confirmation of NIPT results.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 118, doi. 10.1002/ajmg.c.31505
By:
- Mardy, Anne;
- Wapner, Ronald J.
Publication type:
Article
Cover Image, Volume 172C, Number 2, June 2016.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. i, doi. 10.1002/ajmg.c.31506
By:
- Noon, Sarah E.;
- Deardorff, Matthew A.;
- Krantz, Ian D.
Publication type:
Article
Introduction.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 71, doi. 10.1002/ajmg.c.31507
Publication type:
Article
Cytogenetics.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 86, doi. 10.1002/ajmg.c.31508
Publication type:
Article
Prenatal Diagnostics.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 117, doi. 10.1002/ajmg.c.31509
Publication type:
Article
Table of Contents, Volume 172C, Number 2, June 2016.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 67, doi. 10.1002/ajmg.c.31452
Publication type:
Article
Publication schedule for 2016.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 70, doi. 10.1002/ajmg.c.31453
Publication type:
Article
The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 129, doi. 10.1002/ajmg.c.31490
By:
- Dorsett, Dale
Publication type:
Article
Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 146, doi. 10.1002/ajmg.c.31491
By:
- Lopez‐Burks, Martha E.;
- Santos, Rosaysela;
- Kawauchi, Shimako;
- Calof, Anne L.;
- Lander, Arthur D.
Publication type:
Article
Genome stability: What we have learned from cohesinopathies.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 171, doi. 10.1002/ajmg.c.31492
By:
- Cucco, Francesco;
- Musio, Antonio
Publication type:
Article
Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 222, doi. 10.1002/ajmg.c.31493
By:
- Moretto, Alessandra;
- Scaravilli, Vittorio;
- Ciceri, Valentina;
- Bosatra, Mariagrazia;
- Giannatelli, Federica;
- Ateniese, Bianca;
- Mariani, Milena;
- Cereda, Anna;
- Sosio, Simone;
- Zanella, Alberto;
- Pesenti, Antonio;
- Selicorni, Angelo
Publication type:
Article
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 179, doi. 10.1002/ajmg.c.31494
By:
- Cereda, Anna;
- Mariani, Milena;
- Rebora, Paola;
- Sajeva, Anna;
- Ajmone, Paola Francesca;
- Gervasini, Cristina;
- Russo, Silvia;
- Kullmann, Gaia;
- Valsecchi, Grazia;
- Selicorni, Angelo
Publication type:
Article
NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 163, doi. 10.1002/ajmg.c.31495
By:
- Kaur, Maninder;
- Mehta, Devanshi;
- Noon, Sarah E.;
- Deardorff, Matthew A.;
- Zhang, Zhe;
- Krantz, Ian D.
Publication type:
Article
Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 109, doi. 10.1002/ajmg.c.31496
By:
- Ramos, Maria;
- Wilkens, Alisha;
- Krantz, Ian D.;
- Wu, Yaning
Publication type:
Article
Sleep disorders in Cornelia de Lange syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 214, doi. 10.1002/ajmg.c.31497
By:
- Zambrelli, Elena;
- Fossati, Chiara;
- Turner, Katherine;
- Taiana, Matteo;
- Vignoli, Aglaia;
- Gervasini, Cristina;
- Russo, Silvia;
- Furia, Francesca;
- Masciadri, Maura;
- Ajmone, Paola;
- Kullman, Gaia;
- Canevini, Maria Paola;
- Selicorni, Angelo
Publication type:
Article
Characterization of limb differences in children with Cornelia de Lange Syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 155, doi. 10.1002/ajmg.c.31498
By:
- Mehta, Devanshi;
- Vergano, Samantha A. Schrier;
- Deardorff, Matthew;
- Aggarwal, Sarika;
- Barot, Akash;
- Johnson, Drew M.;
- Miller, Nathan F.;
- Noon, Sarah E.;
- Kaur, Maninder;
- Jackson, Laird;
- Krantz, Ian D.
Publication type:
Article
Dr. Laird G. Jackson Festschrift.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 72, doi. 10.1002/ajmg.c.31499
By:
- Noon, Sarah E.;
- Deardorff, Matthew A.;
- Krantz, Ian D.
Publication type:
Article
Cornelia de Lange Syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 128, doi. 10.1002/ajmg.c.31510
Publication type:
Article