Results 151 to 160 of about 207,642 (302)

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Serum fetuin-A in major depressive disorder: Lower levels in patients, but no correlation with symptom severity. [PDF]

PCN Rep
Ikenouchi A, Fujii R, Yoshimura R.
europepmc   +1 more source

Symptoms and Circuits, Part 1: Major Depressive Disorder

, 2003
Stephen M. Stahl
openalex   +2 more sources

Sertraline reduced the severity of patients' depressive symptoms in major depressive disorder [PDF]

, 2004
Karen Wagner, P Ambrosini, Moira A. Rynn, John S. March   +3 more
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Breakdown of Long-Range Temporal Correlations in Theta Oscillations in Patients with Major Depressive Disorder [PDF]

, 2005
Klaus Linkenkaer‐Hansen, Simo Monto, Heikki Rytsälä, Kirsi Suominen, Erkki Isometsä, Seppo Kähkönen   +5 more
openalex   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source

When the Stars Misfire: Astrocytic Dysfunctions in Major Depressive Disorder. [PDF]

Neurochem Res
González-Arias C, Perea G.
europepmc   +1 more source

Association between the 5‐HT6 receptor C267T polymorphism and response to antidepressant treatment in major depressive disorder [PDF]

, 2005
Seung‐Hwan Lee, Kang-Joon Lee, Heon‐Jeong Lee, Byung‐Joo Ham, Seungho Ryu, MIN‐SOO LEE   +5 more
openalex   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source