Results 261 to 270 of about 379,249 (335)

Genome-annotated bivariate analysis of shared heritability in autoimmune hepatitis with psychiatric comorbidity. [PDF]

Sci Rep
Liu L, Chen J, Chen T, Li J, Wang Q.
europepmc   +1 more source

Schizophrenia Genetics Modulates Clinical Depressive Features

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti, Daniel Souery, Siegfried Kasper, Joseph Zohar, Stuart Montgomery, Panagiotis Ferentinos, Dan Rujescu, Raffaele Ferri, Giuseppe Fanelli, Chiara Fabbri, Raffaella Zanardi, Francesco Benedetti, Bernhard T. Baune, Julien Mendlewicz   +13 more
wiley   +1 more source

Analysis of AZF microdeletion, chromosome karyotypes, and sex hormone levels in 3060 male infertility: A retrospective study in Ningxia of China. [PDF]

Medicine (Baltimore)
Fan M, Sui R, Song X, Yan X.
europepmc   +1 more source

Pre- and post-test genetic counseling for chromosomal and Mendelian disorders

, 2015
Jill Fonda Allen, Katie Stoll, Barbara A. Bernhardt   +2 more
openalex   +2 more sources

Targeted Therapy for a Rare <i>PDGFRB</i>-Rearranged Myeloproliferative Neoplasm: A Case Report. [PDF]

Int J Mol Sci
Barbato C, Lasorsa VA, Grimaldi F, Errichiello S, Pisano I, Capuozzo M, Capone M, Izzo V, Quarantelli F, Potenza A, Visconti R, Galdiero A, Zanniti A, Prete CD, Femiano T, Esposito G, Pugliese N, Russo R, Capasso M, Izzo B.   +19 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Sex-determining Region of Y-gene Translocation and 46,XX Testicular Disorders of Sex Development: Cytogenetic and Molecular Insights into Male Infertility. [PDF]

J Hum Reprod Sci
Priya PK, Patel H, Dalal D, Shah A.
europepmc   +1 more source

Screening Data of the Chromosomes in Congenital Disorders and Maldevelopment, from a Survey in a Japanese Population (1964 to 1967)

, 1968
Sajiro Makino
openalex   +1 more source

An Additional Report of a Female With a Complex XY Translocation Is Presented Who Has Successfully Completed a Pregnancy With Significant Y Chromosome Material Gain and Partial X Deletion

American Journal of Medical Genetics Part A, EarlyView.
John Coleman, Nicola Walsh, Deborah M. Lambert, Andrew Green, Sally Ann Lynch   +4 more
wiley   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source