Results 91 to 100 of about 3,414,711 (270)

A polygenic score for height identifies an unmeasured genetic predisposition among pediatric patients with idiopathic short stature

Genome Medicine
Background A subset of children with short stature do not have an identified clinical explanation after extensive diagnostic evaluation. We hypothesized that a polygenic score for height (PGSheight) could identify children with non-familial idiopathic ...
John P. Shelley, Mingjian Shi, Josh F. Peterson, Sara L. Van Driest, Jill H. Simmons, Jonathan D. Mosley   +5 more
doaj   +1 more source

MOESM6 of Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning

, 2019
Additional file 6: Table S1. Top 88 genetic loci identified from the initial genome-wide association study (GWAS) screening of Taiwanese familial short stature (FSS).
Wei-Chiao Chang (106725), Henry Wong (2332252), Ying-Ju Lin (419103), Wen-Ling Liao (2589685), Hsing-Fang Lu (813820), Jer-Yuarn Wu (92059), Fuu-Jen Tsai (230856), Chien-Hsiun Chen (28863)   +7 more
core   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

Familial patellar dislocation and concomitant short stature due to a loss of function in ACAN gene detected by nanopore long-read sequencing

Journal of Rare Diseases
We reported the use of PCR-free nanopore long-read DNA sequencing to identify the disruption of ACAN gene function subsequent to apparently balanced chromosomal translocation involving chromosomes 15 and 20.
Lisa L. P. Siu, Henry C. M. Leung, Stephanie K. L. Ho, Shirley S. W. Cheng, Tak-wah Lam, Ivan F. M. Lo, Ho-ming Luk   +6 more
doaj   +1 more source

Short Stature

This chapter outlines a practical approach to the diagnosis and management of common human genetic conditions in patients who present with short stature.
Melanie A. Manning
core   +1 more source

Maternal overweight and obesity during pregnancy and sex‐dependent dysregulation of the materno‐fetal stress axis

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Maternal obesity and excess gestational weight gain (GWG) are linked to adverse perinatal outcomes, potentially via disruption of the maternal–fetal stress axis. Placental HSD11B2 protects the fetus from excess glucocorticoids and may influence fetal programming during maternal metabolic stress.
Thorsten Braun, Marie Hofmann, Rebecca Rancourt, Julia Sommer, Alexandra Kühn, Loreen Ehrlich, Thomas Ziska, Kerstin Melchior, Karen Schellong, Wolfgang Henrich, Sonja Entringer, Katherine Margaret Kennedy, Andreas Plagemann, Deborah Magdalena Sloboda   +13 more
wiley   +1 more source

Familial patellar dislocation associated with t(15;20) (q24;q13.1)

Journal of Orthopaedic Surgery, 2018
Patellar instability is a common debilitating injury affecting young active individuals. It accounts for approximately 3% of all knee injuries. We report a family, of which five members across three generations, who suffered from autosomal dominant ...
CM Jimmy Chan, YM Jackie Chau, SB Woo, HM Luk, Ivan FM Lo   +4 more
doaj   +1 more source

Managing idiopathic short stature: role of somatropin (rDNA origin) for injection

, 2010
J Paul Frindik1, Stephen F Kemp11University of Arkansas for Medical Sciences and Arkansas Children’s Hospital, AR, USAAbstract: Idiopathic short stature (ISS) is a term that describes short stature in children who do not have growth hormone (GH)
J Paul Frindik, Stephen F Kemp
core  

Nutritional and environmental determinants of maturation and disruption of the early life gut microbiome: A narrative review

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract The first 1000 days of life represent a critical window for gut microbiome assembly, with lifelong implications for child growth, immune development, and disease risk. This review synthesizes evidence on maternal, perinatal, and especially nutritional factors that influence early‐life intestinal colonization and highlights the consequences of ...
Carly Burow, Romy Shenderey, Fariha Chowdhury, Nyah Shah, Nikhil Pai   +4 more
wiley   +1 more source

Etiological profile of short stature in a referral endocrinology clinic

, 2007
Background: Physiological growth is a sensitive long-term indicator of child health. Impaired growth of children may be the first manifestation of a serious chronic disease. Short stature is a common pediatric endocrine problem.
sharbatdar-alaei, MR, Rezaie, M, Nourbakhsh, MK, Rabbani, A   +3 more
core   +1 more source