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Items: 1 to 20 of 38

1.
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
ArticlePDF–1.4M
2.
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
ArticlePDF–1.9M
3.
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
ArticlePDF–1.8M
4.
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
ArticlePDF–647K
5.
Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features
Eric S. Traub, Sarah E. Sheppard, Yoav Dori, Katelyn D. Burns, Elaine H. Zackai, Stephanie M. Ware, Benjamin J. Landis, Dong Li, David D. Weaver
Clin Dysmorphol. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: Clin Dysmorphol. 2021 Apr 1; 30(2): 89–92. doi: 10.1097/MCD.0000000000000347
PMCID:
PMC7933106
ArticlePDF–476K
6.
Clinical and molecular spectrum of CHOPS syndrome
Sarah E. Raible, Devanshi Mehta, Chiara Bettale, Sarah Fiordaliso, Maninder Kaur, Livija Medne, Marlene Rio, Eric Haan, Susan M. White, Kristina Cusmano-Ozog, Eriko Nishi, Yiran Guo, Honglin Wu, Xiaoqing Shi, Qingjie Zhao, Xueqin Zhang, Qi Lei, Aimei Lu, Xiyu He, Nobuhiko Okamoto, Noriko Miyake, Joseph Piccione, Julian Allen, Naomichi Matsumoto, Mary Pipan, Ian D. Krantz, Kosuke Izumi
Am J Med Genet A. Author manuscript; available in PMC 2020 Sep 4.
Published in final edited form as: Am J Med Genet A. 2019 Jul; 179(7): 1126–1138. Published online 2019 May 6. doi: 10.1002/ajmg.a.61174
PMCID:
PMC7473581
ArticlePDF–2.2M
7.
Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy
Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol
Mol Genet Genomic Med. 2020 Aug; 8(8): e1277. Published online 2020 Jun 14. doi: 10.1002/mgg3.1277
PMCID:
PMC7434744
ArticlePDF–500K
8.
幼儿特殊面容伴发育落后与多系统畸形
路 通, 王 艺
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Aug 25; 19(8): 921–925. Chinese. doi: 10.7499/j.issn.1008-8830.2017.08.014
PMCID:
PMC7390051
ArticlePDF–1.7M
9.
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
ArticlePDF–611K
10.
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation
Liangliang Li, Zhi Yi, Hongmin Xi, Lili Ma, Hui Shao, Wenwen Wang, Hong Pan, Miaomiao Li, Hong Jiang
Ital J Pediatr. 2019; 45: 109. Published online 2019 Aug 23. doi: 10.1186/s13052-019-0690-2
PMCID:
PMC6708249
ArticlePDF–1.6M
11.
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
ArticlePDF–2.7M
12.
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
ArticlePDF–1.4M
13.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer M. Tarpinian, Jill A. Rosenfeld, Brendan H. Lee, Undiagnosed Diseases Network, Philippe M. Campeau
Am J Hum Genet. 2019 Jan 3; 104(1): 164–178. Published online 2018 Dec 20. doi: 10.1016/j.ajhg.2018.11.007
PMCID:
PMC6323608
ArticlePDF–1.8M
14.
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
ArticlePDF–3.4M
15.
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
ArticlePDF–1.0M
16.
The Phenotype of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1: Report and Review
Natario L. Couser, Maheer M. Masood, Natasha T. Strande, Ann Katherine M. Foreman, Kristy Crooks, Karen E. Weck, Mei Lu, Kirk C. Wilhelmsen, Myra Roche, James P. Evans, Jonathan S. Berg, Cynthia M. Powell
Am J Med Genet A. Author manuscript; available in PMC 2018 Aug 24.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 167A(9): 2176–2181. Published online 2015 Apr 29. doi: 10.1002/ajmg.a.37129
PMCID:
PMC6108425
ArticlePDF–1.0M
17.
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
ArticlePDF–1.1M
18.
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Sandra Jansen, Alexander Hoischen, Bradley P. Coe, Gemma L. Carvill, Hilde Van Esch, Daniëlle G. M. Bosch, Ulla A. Andersen, Carl Baker, Marijke Bauters, Raphael A. Bernier, Bregje W. van Bon, Hedi L. Claahsen-van der Grinten, Jozef Gecz, Christian Gilissen, Lucia Grillo, Anna Hackett, Tjitske Kleefstra, David Koolen, Malin Kvarnung, Martin J. Larsen, Carlo Marcelis, Fiona McKenzie, Marie-Lorraine Monin, Caroline Nava, Janneke H. Schuurs-Hoeijmakers, Rolph Pfundt, Marloes Steehouwer, Servi J. C. Stevens, Connie T. Stumpel, Fleur Vansenne, Mirella Vinci, Maartje van de Vorst, Petra de Vries, Kali Witherspoon, Joris A. Veltman, Han G. Brunner, Heather C. Mefford, Corrado Romano, Lisenka E. L. M. Vissers, Evan E. Eichler, Bert B. A. de Vries
Eur J Hum Genet. 2018 Jan; 26(1): 54–63. Published online 2017 Dec 5. doi: 10.1038/s41431-017-0039-5
PMCID:
PMC5839042
ArticlePDF–1.0M
19.
Robinow syndrome: report of two patients and review of literature
Merlin G. Butler, William B. Wadlington
Clin Genet. Author manuscript; available in PMC 2017 Jun 30.
Published in final edited form as: Clin Genet. 1987 Feb; 31(2): 77–85. doi: 10.1111/j.1399-0004.1987.tb02773.x
PMCID:
PMC5493386
ArticlePDF–1.1M
20.
A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes
Kelly L. Jones, Ulrike Schwarze, Margaret P. Adam, Peter H. Byers, Heather C. Mefford
Am J Med Genet A. Author manuscript; available in PMC 2015 Nov 21.
Published in final edited form as: Am J Med Genet A. 2015 Nov; 167(11): 2691–2696. Published online 2015 Jun 18. doi: 10.1002/ajmg.a.37209
PMCID:
PMC4654953
ArticlePDF–689K

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