Results 221 to 230 of about 3,786,126 (364)

Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders

Nature Genetics, 2016
Min-Tzu Lo, D. Hinds, J. Tung, C. Franz, C. Fan, Yunpeng Wang, O. Smeland, A. Schork, D. Holland, K. Kauppi, Nilotpal Sanyal, V. Escott-Price, Danny J. Smith, M. O’Donovan, H. Stefánsson, G. Bjornsdottir, T. Thorgeirsson, K. Stefánsson, L. McEvoy, A. Dale, O. Andreassen, Chi-Hua Chen   +21 more
semanticscholar   +1 more source

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Development of Schizophrenia in an Autistic Patient With a Rare Chromosome 8p23.1 Deletion. [PDF]

Cureus
Pogue AM, Agustines D.
europepmc   +1 more source

Bloom syndrome: multiple retinopathies in a chromosome breakage disorder [PDF]

, 2004
Robert B. Bhisitkul
openalex   +1 more source

Unusual maintenance of X chromosome inactivation predisposes female lymphocytes for increased expression from the inactive X

Proceedings of the National Academy of Sciences of the United States of America, 2016
Jianle Wang, C. Syrett, Marianne C. Kramer, Arindam Basu, M. Atchison, M. Anguera   +5 more
semanticscholar   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Karyotypic analysis of 62,587 Han Chinese infertile couples undergoing assisted reproductive technology treatments: insights into chromosomal variations. [PDF]

BMC Genomics
Zhu S, Zhang Q, Hu M, Zhang Y, Sun A, Gao X, Chen H, Yan J.   +7 more
europepmc   +1 more source

Erratum: Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33 [PDF]

, 2004
Y-S Chen, Nirmala Akula, Sevilla D. Detera‐Wadleigh, Thomas G. Schulze, James Thomas, Jesse Potash, J. Raymond DePaulo, M. G. McInnis, N Cox, Francis J. McMahon   +9 more
openalex   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source