Results 41 to 50 of about 500 (134)

Clinical application of exome sequencing in undiagnosed genetic conditions [PDF]

, 2012
BACKGROUND: There is considerable interest in the use of next-generation sequencing to help diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a clinical setting that includes patients with a broad range of ...
Goldstein, David B, Hitomi, Yuki, McDonald, Marie T, Meisler, Miriam H, Need, Anna C, Schoch, Kelly, Shashi, Vandana, Shianna, Kevin V   +7 more
core   +2 more sources

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle [PDF]

, 2020
In spring 2020, six Hereford calves presented with congenital facial deformities attributed to a condition we termed mandibulofacial dysostosis (MD). Affected calves shared hallmark features of a variably shortened and/or asymmetric lower mandible and ...
Bedwell, Patrick S., Fuller, Anna M., Peng, Sichong, Petersen, Jessica Lynn, SAnders, Stacy K., Sieck, Renae L., Steffen, David J., Ward, Jack A., Xiang, Shi-Hua   +8 more
core   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

An Approach to the Airway Management in Children with Craniofacial Anomalies [PDF]

, 2020
Managing the airways during anesthesia in pediatric patients with craniofacial abnormalities is a challenging and stressful situation for even experienced anesthesiologists.
Adham, Al Moataz Billah, Al-Khelaifi, Mashael, Assaf, Omed, Boudjenah, Brahim, Chinnappa, Surendra M.   +4 more
core   +1 more source

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger, Bryn D. Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta   +4 more
wiley   +1 more source

Associated Anomalies in Radial Ray Deficiency

American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Radial ray deficiency (RRD) may be isolated, without other congenital anomalies or co‐occurring with other, non‐RRD, congenital anomalies. The prevalence and the types of co‐occurring anomalies are variable in the reported studies. The aim of this study was to obtain the prevalence and the types of co‐occurring congenital anomalies among cases
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications

Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.
ABSTRACT Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. The syndrome is characterized by phenotypic polymorphism and reduced penetrance. Methods Patients were investigated by performing a cytogenetic analysis of GTG‐banded metaphases, aCGH with ...
A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, A. D. Lobanov, E. A. Fonova, I. Z. Zhalsanova, A. A. Zarubin, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, A. A. Agafonova, A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev   +16 more
wiley   +1 more source

Application of Whole‐Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities

Molecular Genetics &Genomic Medicine, Volume 12, Issue 10, October 2024.
An additional 28.9% (43/149) diagnostic yield was increased by WES in the prenatal evaluation of foetuses with any CNS abnormalities anomaly following negative results by karyotyping and chromosome array. WES may also be of benefit for foetuses with isolated CNS anomalies.
Caiqun Luo, Erya Wen, Yang Liu, Hui Wang, Bei Jia, Liyuan Chen, Xiaoxia Wu, Qian Geng, Huaxuan Wen, Shengli Li, Bingguang Liu, Weiqing Wu, Mei Zhong   +12 more
wiley   +1 more source

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula [PDF]

, 2016
Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients.
Bever, Y. (Yolande) van, Beverloo, H.B. (Berna), Boemers, T.M. (Thomas M.), Brooks, A.S. (Alice), Brosens, E. (Erwin), Choinitzki, V. (Vera), Douben, H. (Hannie), Eussen, H.J.F.M.M. (Bert), Helm, R.M. (Robert) van der, Herms, S. (Stefan), Hilger, A.C. (Alina C), Hoffmann, P. (Per), Hölscher, A. (Alice), IJsselstijn, H. (Hanneke), Jong, E.M. (Elisabeth) de, Klein, A. (Annelies) de, Lacher, M., Ludwig, M. (Michael), Marsch, F. (Florian), Reutter, H. (Heiko), Schumacher, J. (Johannes), Scott, D.A., Tibboel, D. (Dick), Ure, B. (Benno), Van Opstal, A.R.M. (Diane), Wijnen, R.M.H. (René), Zaveri, H.P. (Hitisha)   +26 more
core   +1 more source

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects [PDF]

, 2020
International ...
Afenjar, Alexandra, Alembik, Yves, Drunat, Séverine, El Ghouzzi, Vincent, Elmaleh-Bergès, Monique, Ernault, Anais, Gressens, Pierre, Guilmin Crepon, Sophie, Guimiot, Fabien, Héron, Delphine, Kaguelidou, Florentia, Kubis, Nathalie, Létard, Pascaline, Milani, Paolo, Momtchilova, Martha, Moutard, Marie Laure, Nasser, Hala, Passemard, Sandrine, Pouvreau, Nathalie, Rauch, Anita, Steindl, Katharina, Teissier, Natacha, Vera, Liza, Verloes, Alain, Zollino, Marcella   +24 more
core   +4 more sources