Results 91 to 100 of about 59,286 (281)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

A Natural System of Chromosome Transfer in Yersinia pseudotuberculosis [PDF]

, 2012
The High Pathogenicity Island of Yersinia pseudotuberculosis IP32637 was previously shown to be horizontally transferable as part of a large chromosomal segment.
Biliana Lesic, Didier Mazel (158958), Magaly Ducos-Galand, Didier Mazel, Magaly Ducos-Galand (178854), Marie-Christine Prévost, Prévost Marie-Christine, Huon Christèle, Marie-Laure Rosso, Ducos-Galand, Magaly, Zouine, Mohamed, Marie-Christine Prévost (2280838), Christèle Huon (178859), Marie-Laure Rosso (178864), Carniel Elisabeth, Christèle Huon, Elisabeth Carniel (87260), Ducos-Galand Magaly, Mohamed Zouine, Mazel, Didier, Biliana Lesic (45391), Elisabeth Carniel, Lesic, Biliana, Rosso, Marie-Laure, Mazel Didier, Prévost, Marie-Christine, Mohamed Zouine (178847), Zouine Mohamed, Lesic Biliana, Huon, Christèle, Carniel, Elisabeth, Rosso Marie-Laure   +31 more
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +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

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage:a systematic review and meta-analysis

, 2013
Approximately 50% of spontaneous miscarriages are associated with chromosome abnormalities. Identification of these karyotypic abnormalities helps to estimate recurrence risks in future pregnancies.
McMullan, D, Coomarasamy, A, Dhillon, Rima; id_orcid, Kilby, Mark, Morris, Rachel; id_orcid, Hillman, Sarah; id_orcid, Williams, D   +6 more
core   +1 more source

Oocyte–cumulus cell interaction: a key factor in early embryo development

Biological Reviews, EarlyView.
ABSTRACT The evaluation of oocyte competence is a fundamental step in achieving successful outcomes following assisted reproduction techniques (ART). At present, however, conventional oocyte maturation assessment is carried out by morphological observation, which is a subjective method that does not consider molecular features.
Marc Torres‐Garrido, Marc Yeste, Yentel Mateo‐Otero   +2 more
wiley   +1 more source

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

Clinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples, Shayna R. Killam, Karen E. Brown, Rachel Dalton, Elizabeth Sather, Qiang Chen, Joshua Loveland, Corbin Schwanke, Abdallah F. Elias, Kristin L. Bigos, Erica L. Woodahl   +10 more
wiley   +1 more source

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

Epilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis, Emilia Ricci, Maria Paola Canevini, Lieven Lagae, Kentaro Tokumoto, Yushi Inoue, Tim Buckinx, Allison Watson, Kenneth A. Myers   +8 more
wiley   +1 more source