Results 181 to 190 of about 214,782 (285)

An unexpectedly prolonged severe hyperbilirubinemia in a patient with pre-existing hepatitis A: a role of genetic predisposition?

, 2018
Felicia Stefania Falvella, Elena Angeli, Laura Cordier, Emilio Clementi, Mauro Panteghini   +4 more
openalex   +2 more sources

Risk of pre‐eclampsia in patients with a maternal genetic predisposition to common medical conditions: a case–control study

, 2020
Kathryn J. Gray, VP Kovacheva, Hooman Mirzakhani, A. C. Bjonnes, Berta Almoguera, Melissa L. Wilson, SA Ingles, Charles J. Lockwood, Håkon Håkonarson, TF McElrath, JC Murray, ER Norwitz, S. Ananth Karumanchi, B.T. Bateman, BJ Keating, Richa Saxena   +15 more
openalex   +2 more sources

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

Genetic Predisposition to Excess Body Weight and Survival in Women Diagnosed With Breast Cancer.

JAMA Netw Open
Bodelon C, Landry M, Lori A, Hodge JM, Choudhury PP, Rees-Punia E, Wang Y, McCullough LE, Patel AV, Teras LR.   +9 more
europepmc   +1 more source

Accelerated Biological Aging, Genetic Predisposition, and Incident Valvular Heart Disease. [PDF]

JACC Asia
Zhu YJ, Suo XY, Guo J, Lu S, Zhang JX, Bo YC, Han ZY, Qiu CG.   +7 more
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Male Breast Cancer in Serbia: A 33-Year Retrospective Cohort Study of Genetic Predisposition, Clinicopathological Features, and Survival Outcomes. [PDF]

Cancers (Basel)
Inić Z, Žegarac M, Krivokuća A, Živković O, Buta M, Vučić N, Stević D, Milićević A, Marković I, Đurišić I.   +9 more
europepmc   +1 more source

Genetic predisposition to osteosarcoma

BoneKEy Reports, 2013
openaire   +3 more sources

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source