PMC Articles for MedGen (Select 1752632) - PMC

Select item 78988011.

Two loss‐of‐function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway

Tingting Zhang, Yun Yang, Xueling Yin, Xueqing Wang, Jihong Ni, Zhiya Dong, Chuanyin Li, Wenli Lu

Am J Med Genet A. 2021 Mar; 185(3): 710–718. Published online 2020 Dec 22. doi: 10.1002/ajmg.a.62024

PMCID:: PMC7898801

Select item 75365752.

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche, Ann Katherine M. Foreman, Julianne M. O’Daniel, Bryce A. Seifert, Kristy Lee, Alicia Brandt, Chelsea Gustafson, Daniela M. DeCristo, Natasha T. Strande, Lori Ramkissoon, Laura V. Milko, Phillips Owen, Sayanty Roy, Mai Xiong, Ryan S. Paquin, Rita M. Butterfield, Megan A. Lewis, Katherine J. Souris, Donald B. Bailey, Jr., Christine Rini, Jessica K. Booker, Bradford C. Powell, Karen E. Weck, Cynthia M. Powell, Jonathan S. Berg

Am J Hum Genet. 2020 Oct 1; 107(4): 596–611. Published online 2020 Aug 26. doi: 10.1016/j.ajhg.2020.08.001

PMCID:: PMC7536575

Article PDF–547K

Select item 63840573.

Intrahost Dynamics of Human Cytomegalovirus Variants Acquired by Seronegative Glycoprotein B Vaccinees

Cody S. Nelson, Diana Vera Cruz, Melody Su, Guanhua Xie, Nathan Vandergrift, Robert F. Pass, Michael Forman, Marie Diener-West, Katia Koelle, Ravit Arav-Boger, Sallie R. Permar

J Virol. 2019 Mar 1; 93(5): e01695-18. Prepublished online 2018 Dec 5. Published online 2019 Feb 19. doi: 10.1128/JVI.01695-18

PMCID:: PMC6384057

Article PDF–1.8M

Select item 61433474.

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

Mariana Gutiérrez, Paula Scaglia, Ana Keselman, Lucía Martucci, Liliana Karabatas, Sabina Domené, Ayelen Martin, Patricia Pennisi, Miguel Blanco, Nora Sanguineti, Liliana Bezrodnik, Daniela Di Giovanni, María Soledad Caldirola, María Esnaola Azcoiti, María Isabel Gaillard, Lee A. Denson, Kejian Zhang, Ammar Husami, Nana-Hawa Yayah Jones, Vivian Hwa, Santiago Revale, Martín Vázquez, Héctor Jasper, Ashish Kumar, Horacio Domené

Mol Cell Endocrinol. Author manuscript; available in PMC 2018 Sep 18.

Published in final edited form as: Mol Cell Endocrinol. 2018 Sep 15; 473: 166–177. Published online 2018 Feb 3. doi: 10.1016/j.mce.2018.01.016

PMCID:: PMC6143347

Article PDF–2.0M

Select item 60383465.

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos

BMC Med Genomics. 2018; 11: 58. Published online 2018 Jul 9. doi: 10.1186/s12920-018-0375-5

PMCID:: PMC6038346

Article PDF–964K

Select item 58237386.

Congenital Cavitary Optic Disc Anomaly and Axenfeld’s Anomaly in Wolf-Hirschhorn Syndrome: A Case Report and Review of the Literature

Mohsin H. Ali, Nathalie F. Azar, Vinay Aakalu, Felix Y. Chau, Javaneh Abbasian, Pete Setabutr, Irene H. Maumenee

Ophthalmic Genet. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Ophthalmic Genet. 2018 Apr; 39(2): 271–274. Published online 2017 Dec 4. doi: 10.1080/13816810.2017.1408850

PMCID:: PMC5823738

Article PDF–182K

Select item 52252727.

Veronique Pingault, Laurence Pierre-Louis, Asma Chaoui, Alain Verloes, Elisabeth Sarrazin, Goran Brandberg, Nadege Bondurand, Peter Uldall, Sylvie Manouvrier-Hanu

Am J Med Genet A. Author manuscript;

Published in final edited form as: Am J Med Genet A. 2014; 164(9): 2344–2350. doi: 10.1002/ajmg.a.36612

PMCID:: PMC5225272

Article

Select item 34223248.

Inner Ear Gene Transfection in Neonatal Mice Using Adeno-Associated Viral Vector: A Comparison of Two Approaches

Li Xia, Shankai Yin, Jian Wang

PLoS One. 2012; 7(8): e43218. Published online 2012 Aug 17. doi: 10.1371/journal.pone.0043218

PMCID:: PMC3422324

Article PDF–506K

Select item 10155109.

De novo partial trisomy 15q (proximal type).

T J Herweijer, J W Oorthuys, N J Leschot

J Med Genet. 1988 Apr; 25(4): 260–262. doi: 10.1136/jmg.25.4.260

PMCID:: PMC1015510

Summary Page Browse PDF–616K

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