PMC Articles for MedGen (Select 867276) - PMC

Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin‐Ho Choi, Minji Kang, Gu‐Hwan Kim, Han‐Wook Yoo, Beom Hee Lee

Mol Genet Genomic Med. 2023 Apr; 11(4): e2127. Published online 2022 Dec 23. doi: 10.1002/mgg3.2127

PMCID:: PMC10094073

Abstract Article PDF–2.1M

Select item 96265635.

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung-Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Quan Li, Kai Wang, Anastassia Voronova, Peter M. Krawitz, Gholson J. Lyon

Eur J Hum Genet. 2022 Nov; 30(11): 1244–1254. Published online 2022 Aug 15. doi: 10.1038/s41431-022-01171-1

PMCID:: PMC9626563

Abstract Article PDF–1.4M

Select item 88327496.

Abnormal eruption of teeth in relation to FGFR1 heterozygote mutation: a rare case of osteoglophonic dysplasia with 4-year follow-up

Yuchun Zou, Hanyu Lin, Weijia Chen, Lin Chang, Senxin Cai, You-Guang Lu, Linyu Xu

BMC Oral Health. 2022; 22: 36. Published online 2022 Feb 11. doi: 10.1186/s12903-022-02069-6

PMCID:: PMC8832749

Abstract Article PDF–1.9M

Select item 85721217.

Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling

Chunxue Liu, Dongyun Li, Haowei Yang, Huiping Li, Qiong Xu, Bingrui Zhou, Chunchun Hu, Chunyang Li, Yi Wang, Zhongwei Qiao, Yong-hui Jiang, Xiu Xu

Prog Neurobiol. Author manuscript; available in PMC 2021 Nov 6.

Published in final edited form as: Prog Neurobiol. 2021 May; 200: 101985. Published online 2020 Dec 31. doi: 10.1016/j.pneurobio.2020.101985

PMCID:: PMC8572121

Abstract Article PDF–1.8M

Select item 79888378.

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

K. Taylor Wild, Tia Gordon, Elizabeth J. Bhoj, Haowei Du, Shalini N. Jhangiani, Jennifer E. Posey, James R. Lupski, Daryl A. Scott, Elaine H. Zackai

Am J Med Genet A. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Am J Med Genet A. 2020 Dec; 182(12): 2919–2925. Published online 2020 Sep 21. doi: 10.1002/ajmg.a.61878

PMCID:: PMC7988837

Abstract Article PDF–647K

Select item 76863009.

Impaired cell migration and structural defects in myeloid cells overexpressing miR-30b and miR-142–3p

Araceli Valverde, Salvador Nares, Afsar Raza Naqvi

Biochim Biophys Acta Gene Regul Mech. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Biochim Biophys Acta Gene Regul Mech. 2020 Nov; 1863(11): 194628. Published online 2020 Sep 24. doi: 10.1016/j.bbagrm.2020.194628

PMCID:: PMC7686300

Abstract Article PDF–3.5M

Select item 701660710.

Finding the Unicorn, a New Mouse Model of Midfacial Clefting

Brandi Lantz, Casey White, Xinyun Liu, Yong Wan, George Gabriel, Cecilia W. Y. Lo, Heather L. Szabo-Rogers

Genes (Basel) 2020 Jan; 11(1): 83. Published online 2020 Jan 11. doi: 10.3390/genes11010083

PMCID:: PMC7016607

Abstract Article PDF–4.7M

Select item 691395611.

Breeding French bulldogs so that they breathe well—A long way to go

Eva-Marie Ravn-Mølby, Line Sindahl, Søren Saxmose Nielsen, Camilla S. Bruun, Peter Sandøe, Merete Fredholm

PLoS One. 2019; 14(12): e0226280. Published online 2019 Dec 16. doi: 10.1371/journal.pone.0226280

PMCID:: PMC6913956

Abstract Article PDF–1.0M

Select item 687153112.

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

R. Martin, M. Splitt, D. Genevieve, E. Aten, A. Collins, C. I. de Bie, L. Faivre, N. Foulds, J. Giltay, R. Ibitoye, S. Joss, J. Kennedy, B. Kerr, E. Kivuva, M. Koopmans, R. Newbury-Ecob, N. Jean-Marçais, E. A. J. Peeters, S. Smithson, S. Tomkins, F. Tranmauthem, A. Piton, A. van Haeringen

Eur J Hum Genet. 2019 Nov; 27(11): 1677–1682. Published online 2019 Jun 14. doi: 10.1038/s41431-019-0413-6

PMCID:: PMC6871531

Abstract Article PDF–611K

Select item 667202613.

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

Kirsten E. Craddock, Volkan Okur, Ashley Wilson, Erica H. Gerkes, Keri Ramsey, Jennifer M. Heeley, Jane Juusola, Antonio Vitobello, Marie-Noelle Bonnet Dupeyron, Laurence Faivre, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004200. doi: 10.1101/mcs.a004200

PMCID:: PMC6672026

Abstract Article PDF–2.7M

Select item 636795014.

Cornelia de Lange Syndrome in Diverse Populations

Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Eben Badoe, Meow-Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S. Nayak, Vorasuk Shotelersuk, Andre Megarbane, Shubha Phadke, Nirmala D. Sirisena, Vajira H.W. Dissanayake, Carlos R. Ferreira, Monisha S. Kisling, Pranoot Tanpaiboon, Annette Uwineza, Leon Mutesa, Cedrik Tekendo-Ngongang, Ambroise Wonkam, Karen Fieggen, Leticia Cassimiro Batista, Danilo Moretti-Ferreira, Roger E. Stevenson, Eloise J. Prijoles, David Everman, Kate Clarkson, Jessica Worthington, Virginia Kimonis, Fuki Hasama, Carol Crowe, Paul Wong, Kisha Johnson, Robin D. Clark, Lynne Bird, Diane Masser-Frye, Marie McDonald, Patrick Willems, Elizabeth Roeder, Sulgana Saitta, Kwame Anyane-Yeoba, Laurie Demmer, Naoki Hamajima, Zornitza Stark, Greta Gillies, Louanne Hudgins, Usha Dave, Stavit Shalev, Victoria Siu, Ann Ades, Holly Dubbs, Sarah Raible, Maninder Kaur, Emanuela Salzano, Laird Jackson, Matthew Deardorff, Antonie Kline, Marshall Summar, Maximilian Muenke, Marius George Linguraru, Ian D. Krantz

Am J Med Genet A. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Am J Med Genet A. 2019 Feb; 179(2): 150–158. Published online 2019 Jan 6. doi: 10.1002/ajmg.a.61033

PMCID:: PMC6367950

Abstract Article PDF–1.4M

Select item 628827915.

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John D. Burke, Matthew Herzog, Anju Shukla, Katharina Steindl, Ascia Eskin, Siddaramappa J. Patil, Pascal Joset, Hane Lee, Lisa. J. Garrett, Tadafumi Yokoyama, Nicholas Balanda, Steven P. Bodine, Nathanial J. Tolman, Patricia M. Zerfas, Allison Zheng, Georgia Ramantani, Katta M. Girisha, Cecilia Rivas, Pujar V. Suresh, Abdel Elkahloun, Hessa S. Alsaif, Salma M. Wakil, Laila Mahmoud, Rehab Ali, Michaela Prochazkova, Undiagnosed Diseases Network members, Ashok B. Kulkarni, Tawfeg Ben-Omran, Dilek Colak, H. Douglas Morris, Anita Rauch, Julian A. Martinez-Agosto, Stanley F. Nelson, Fowzan S. Alkuraya, William A. Gahl, May Christine V. Malicdan

Am J Hum Genet. 2018 Dec 6; 103(6): 948–967. Published online 2018 Dec 6. doi: 10.1016/j.ajhg.2018.11.001

PMCID:: PMC6288279

Abstract Article PDF–3.4M

Select item 623830516.

Ring chromosome 15 – cytogenetics and mapping arrays: a case report and review of the literature

César Paz-y-Miño, Jaime Guevara-Aguirre, Ariane Paz-y-Miño, Francesca Velarde, Isaac Armendáriz-Castillo, Verónica Yumiceba, Jesús María Hernández, Juan Luis García, Paola E. Leone

J Med Case Rep. 2018; 12: 340. Published online 2018 Nov 16. doi: 10.1186/s13256-018-1879-5

PMCID:: PMC6238305

Abstract Article PDF–1.0M

Select item 608650817.

Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review

Crîngu Antoniu Ionescu, Dan Calin, Dan Navolan, Alexandra Matei, Mihai Dimitriu, Catalin Herghelegiu, Liana Ples

Medicine (Baltimore) 2018 Jul; 97(29): e11521. Published online 2018 Jul 20. doi: 10.1097/MD.0000000000011521

PMCID:: PMC6086508

Abstract Article PDF–818K

Select item 602028418.

Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient

Yan-ping Xu, Li-ping Shi, Jiajun Zhu

BMC Pediatr. 2018; 18: 203. Published online 2018 Jun 26. doi: 10.1186/s12887-018-1181-0

PMCID:: PMC6020284

Abstract Article PDF–1023K

Select item 599205619.

Soft-Tissue Nasal Asymmetry as an Indicator of Orofacial Cleft Predisposition

Charles Zhang, Steven F. Miller, Jasmien Roosenboom, George L. Wehby, Lina M. Moreno Uribe, Jacqueline T. Hecht, Frederic W.B. Deleyiannis, Kaare Christensen, Mary L. Marazita, Seth M. Weinberg

Am J Med Genet A. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Am J Med Genet A. 2018 Jun; 176(6): 1296–1303. Published online 2018 Apr 16. doi: 10.1002/ajmg.a.38688

PMCID:: PMC5992056

Abstract Article PDF–532K

Select item 598317320.

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections

Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C. Jones, David P. Dimmock, Stephen F. Kingsmore, on behalf of the RCIGM Investigators

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002469. doi: 10.1101/mcs.a002469

PMCID:: PMC5983173

Abstract Article PDF–1.1M

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