Results 151 to 160 of about 2,167,838 (317)

The clinical significance of congenital uterine abnormalities [PDF]

, 1958
Archibald Torquil MacNeil
openalex  

Congenital dysfibrinogenemia caused by γAla327Val mutation: structural abnormality of D region [PDF]

, 2021
Aiqiu Wei, Yangyang Wu, Liqun Xiang, Jie Yan, Peng Cheng, Donghong Deng, Faquan Lin   +6 more
openalex   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities. [PDF]

Genet Med, 2021
Snijders Blok L, Vino A, den Hoed J, Underhill HR, Monteil D, Li H, Reynoso Santos FJ, Chung WK, Amaral MD, Schnur RE, Santiago-Sim T, Si Y, Brunner HG, Kleefstra T, Fisher SE.   +14 more
europepmc   +1 more source

Neurocardiogenic Syncope and Supraventricular Tachycardia in Association with a Rare Congenital Aortic Valve Abnormality [PDF]

, 2016
Yashwant Agrawal, Jagadeesh K Kalavakunta, Vishal Gupta, William F. Lapenna   +3 more
openalex   +1 more source

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Nature Genetics, 2016
C. Redin, H. Brand, Ryan L. Collins, T. Kammin, Elyse B Mitchell, Jennelle C Hodge, Carrie Hanscom, V. Pillalamarri, C. Seabra, M. Abbott, Omar Abdul-Rahman, E. Åberg, Rhett Adley, S. Alcaraz-Estrada, F. Alkuraya, Y. An, M. Anderson, Caroline Antolik, K. Anyane-Yeboa, Joan F. Atkin, Tina M Bartell, Jonathan A Bernstein, Elizabeth Beyer, Ian Blumenthal, E. Bongers, E. H. Brilstra, Chester W. Brown, H. Brüggenwirth, B. Callewaert, Colby Chiang, K. Corning, H. Cox, E. Cuppen, Benjamin Currall, T. Cushing, D. David, M. Deardorff, A. Dheedene, M. D’hooghe, B. Vries, Dawn L. Earl, H. Ferguson, Heather Fisher, David R Fitzpatrick, P. Gerrol, D. Giachino, J. Glessner, Troy J. Gliem, M. Grady, Brett H. Graham, Cristin Griffis, K. Gripp, A. Gropman, Andrea Hanson‐Kahn, David J Harris, M. Hayden, Rosamund Hill, R. Hochstenbach, Jodi D. Hoffman, R. J. Hopkin, M. W. Hubshman, A. M. Innes, M. Irons, M. Irving, J. Jacobsen, S. Janssens, T. Jewett, John P Johnson, M. Jongmans, Stephen Kahler, D. Koolen, J. Korzelius, P. Kroisel, Y. Lacassie, W. Lawless, E. Lemyre, K. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, E. Lose, D. Lucente, M. Macera, Poornima Manavalan, G. Mandrile, Carlo L. Marcelis, L. Margolin, Tamara Mason, D. Masser-Frye, Michael W. McClellan, Cinthya J Zepeda Mendoza, B. Menten, Sjors Middelkamp, L. Mikami, Emily J. Moe, S. Mohammed, T. Mononen, Megan Mortenson, Graciela Moya, A. Nieuwint, Zehra Ordulu, S. Parkash, Susan P Pauker, S. Pereira, Danielle L Perrin, K. Phelan, Raul E Piña Aguilar, P. Poddighe, Giulia Pregno, S. Raskin, L. Reis, W. Rhead, D. Rita, I. Renkens, F. Roelens, Jayla Ruliera, P. Rump, Samantha L. P. Schilit, R. Shaheen, R. Sparkes, Erica S. Spiegel, B. Stevens, M. Stone, Julia Tagoe, J. Thakuria, B. V. Bon, Jiddeke van de Kamp, I. Burgt, T. Essen, C. V. Ravenswaaij-Arts, M. V. Roosmalen, S. Vergult, Catharina M. L. Volker-Touw, Dorothy P Warburton, Matthew J. Waterman, S. Wiley, Anna Wilson, Maria de la Concepcion A Yerena-de Vega, Roberto T. Zori, B. Levy, Han G. Brunner, N. Leeuw, W. Kloosterman, E. Thorland, Cynthia C Morton, J. Gusella, M. Talkowski   +148 more
semanticscholar   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

Congenital malformations of newborns at Songklanagarind Hospital

Journal of Health Science and Medical Research (JHSMR), 2003
Objective: To determine the incidence and types of congenital anomalies in neonates delivered at Songklanagarind Hospital Material and Methods: A retrospective study. Results: Among a total of 27,061 neonates delivered at Songklanagarind Hospital between
S Dissaneevate, S Jaruratanasirikul, P Chanvithan, W Janjindamai   +3 more
doaj  

Congenital abnormalities of the retinal vasculature in neurofibromatosis type I. [PDF]

Sci Rep, 2020
Chun BY, Yoon JH, Son BJ, Hwang SK, Lim HT.   +4 more
europepmc   +1 more source